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Visual Impairment Due To Intracranial Pressure
Wikipedia
A follow-up project has been initiated (the "One Carbon" study) to follow up and clarify these preliminary findings. Space obstructive syndrome [ edit ] An anatomic cause of the microgravity related intracranial hypertension and visual disturbances has been proposed and is termed Space Obstructive Syndrome or SOS. ... Case definition and clinical practice guidelines [ edit ] According to guidelines set forth by the Space Medicine Division, all long-duration astronauts with postflight vision changes should be considered a suspected case of VIIP syndrome. Each case could then be further differentiated by definitive imaging studies establishing the postflight presence of optic-disc edema, increased ONSD and altered OCT findings. ... PMID 22298570 . ^ Wiener, TC (January 2012). "Space obstructive syndrome: intracranial hypertension, intraocular pressure, and papilledema in space". ... Love, Shayla (9 July 2016). "The mysterious syndrome impairing astronauts' sight" . ... "Intraocular/Intracranial pressure mismatch hypothesis for visual impairment syndrome in space". Aviation, Space, and Environmental Medicine . 85 (1): 78–80. doi : 10.3357/asem.3789.2014 .
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Mesoamerican Nephropathy
Wikipedia
option=com_content&view=article&id=8833&Itemid=40033&lang=en Accessed June 13, 2013 v t e Kidney disease Glomerular disease See Template:Glomerular disease Tubules Renal tubular acidosis proximal distal Acute tubular necrosis Genetic Fanconi syndrome Bartter syndrome Gitelman syndrome Liddle's syndrome Interstitium Interstitial nephritis Pyelonephritis Balkan endemic nephropathy Vascular Renal artery stenosis Renal ischemia Hypertensive nephropathy Renovascular hypertension Renal cortical necrosis General syndromes Nephritis Nephrosis Renal failure Acute renal failure Chronic kidney disease Uremia Other Analgesic nephropathy Renal osteodystrophy Nephroptosis Abderhalden–Kaufmann–Lignac syndrome Diabetes insipidus Nephrogenic Renal papilla Renal papillary necrosis Major calyx / pelvis Hydronephrosis Pyonephrosis Reflux nephropathy
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Anemia
Wikipedia
Chronic anemia may result in behavioral disturbances in children as a direct result of impaired neurological development in infants, and reduced academic performance in children of school age. Restless legs syndrome is more common in people with iron-deficiency anemia than in the general population. [18] Causes [ edit ] Figure shows normal red blood cells flowing freely in a blood vessel. ... Iron deficiency anemia , resulting in deficient heme synthesis [21] Thalassemias , causing deficient globin synthesis [21] Congenital dyserythropoietic anemias , causing ineffective erythropoiesis Anemia of kidney failure [21] (also causing stem cell dysfunction) Other mechanisms of impaired RBC production Myelophthisic anemia [21] or myelophthisis is a severe type of anemia resulting from the replacement of bone marrow by other materials, such as malignant tumors, fibrosis, or granulomas. Myelodysplastic syndrome [21] anemia of chronic inflammation [21] Leukoerythroblastic anemia is caused by space-occupying lesions in the bone marrow that prevent normal production of blood cells. [23] Increased destruction [ edit ] Further information: Hemolytic anemia Anemias of increased red blood cell destruction are generally classified as hemolytic anemias . ... Microcytic [ edit ] Main article: Microcytic anemia Microcytic anemia is primarily a result of hemoglobin synthesis failure/insufficiency, which could be caused by several etiologies: Heme synthesis defect Iron deficiency anemia (microcytosis is not always present) Anemia of chronic disease (more commonly presenting as normocytic anemia) Globin synthesis defect Alpha-, and beta- thalassemia HbE syndrome HbC syndrome Various other unstable hemoglobin diseases Sideroblastic defect Hereditary sideroblastic anemia Acquired sideroblastic anemia, including lead toxicity [49] Reversible sideroblastic anemia Iron deficiency anemia is the most common type of anemia overall and it has many causes. ... It may be drug-induced, for example in cats and dogs by acetaminophen (paracetamol), [58] or may be caused by eating various plants or other substances: In cats and dogs after eating either raw or cooked plants from the genus Allium , for example, onions or garlic. [59] In dogs after ingestion of zinc , for example, after eating U.S. pennies minted after 1982. [58] In horses which eat dry or wilted red maple leaves. [60] Hyperanemia [ edit ] Hyperanemia is a severe form of anemia, in which the hematocrit is below 10%. [61] Refractory anemia [ edit ] Refractory anemia, an anemia which does not respond to treatment , [62] is often seen secondary to myelodysplastic syndromes . [63] Iron deficiency anemia may also be refractory as a manifestation of gastrointestinal problems which disrupt iron absorption or cause occult bleeding . [64] Transfusion dependent [ edit ] Transfusion dependent anemia is a form of anemia where ongoing blood transfusion are required. [65] Most people with myelodysplastic syndrome develop this state at some point in time. [66] Beta thalassemia may also result in transfusion dependence. [67] [68] Concerns from repeated blood transfusions include iron overload . [66] This iron overload may require chelation therapy . [69] Treatment [ edit ] Treatment for anemia depends on cause and severity. ... "The Prevalence and Impact of Restless Legs Syndrome on Patients with Iron Deficiency Anemia" .HAMP, REN, SLC46A1, EPO, GATA1, SLC40A1, TNF, HBB, CSF3, HP, ALAS2, MTHFR, PTH, IFNA2, CSF2, TYMS, IL3, CLEC11A, PARP1, AGT, SOD2, PRL, CDK6, TF, IL2, NUP98, ASPG, ACHE, GSR, ATP7A, TNFRSF10A, HOXD13, KRAS, SLC25A37, IGF2, ATG5, ATG7, IREB2, JAK2, BMP6, ALAD, HBA1, ITPA, GPX1, HBA2, TFRC, KLF1, HBG2, CP, ACAD8, HBG1, TTR, IFNG, CALR, TP53, KIT, IL12B, TFR2, GBA, MPL, TGFB1, STAT3, F2, MUC1, PDGFRA, MPIG6B, GLRX5, MECOM, FANCB, FIP1L1, TET2, IGH, COX4I2, LCAT, THRA, SMAD4, MARS1, FANCA, HLA-B, COX10, TERT, CAD, PRKAR1A, STAT5B, RMRP, APOA1, CASR, ANK1, ACVRL1, SEC61A1, ABCA1, COQ2, TRNT1, UBE2T, PRF1, SNX10, ITGA2B, SDHA, SDHC, SDHB, ALX4, GNA14, FAM111A, NOD2, IFIH1, ITGB3, NLRC4, ITK, SCO1, OSTM1, RPS27, RPS26, RPS15A, KRT14, RPS10, LAMA3, LAMB3, LAMC2, RRM2B, COG6, RPL27, LIG4, IL7R, TERC, IL6, ALG8, HPRT1, HPGD, NDUFAF3, HMGCL, SRP54, TALDO1, SURF1, IDH1, HIF1A, NDUFAF5, GNPTAB, HELLS, KIF1B, FASTKD2, STK11, TBCE, DCLRE1C, TBXAS1, IGLV10-54, IL2RG, RPL26, VPS45, MLX, IFNGR1, FOXP1, IDH2, SLCO2A1, NABP1, ACD, TINF2, SP110, ZBTB20, LIPA, NDUFA12, KIF15, SLC11A2, PCCA, PARN, PSMB9, OCRL, SBDS, NUMA1, SAMD9, PCNT, NPM1, NPHP1, BCOR, PTH1R, NSUN2, SARS2, PCCB, PSMB8, NDUFA13, LARS1, PRKACG, PHF21A, POLG, PML, PLEC, PSAP, PHKG2, PDHA1, PHKA2, LIPT1, RTEL1, PSMB4, PFKM, PEPD, MALT1, YARS2, SH2D1A, FERMT1, TRNS1, TRNN, MTRR, FOXP3, FOXRED1, RAG1, MMP1, MMUT, CHD7, NHP2, RAG2, RARA, SMARCAL1, TACO1, ABCD4, NOP10, FANCL, NDUFV1, WRAP53, PNPO, STEAP3, NDUFV2, NDUFS8, NDUFS4, NDUFS3, NDUFA2, NDUFS2, NDUFS1, NDUFB8, NDUFA10, NDUFA9, NDUFA4, ITGB4, VPS33A, EFL1, AASS, CRP, COX15, COX8A, COX6B1, COL17A1, COL7A1, MMAA, FARSB, CLCN7, LYST, UBR1, SCO2, UNC13D, SAMD9L, PTF1A, NPHP4, IFNL3, GTF2E2, FGF23, XRCC4, SLC25A13, ELANE, NLRP3, ECHS1, TYMP, DNMT3B, MYSM1, ZBTB16, COX20, DKC1, MTFMT, RNF113A, TCIRG1, DNAJC21, DBH, MPLKIP, NDUFAF6, CTSK, SCARB2, TNFSF11, MMAB, STING1, PLEKHM1, PET100, ZBTB24, ALPL, ALB, AK2, COG1, RECQL4, CRIPT, AGXT, IFT140, KIF23, ADA, ACVR1, ACTN4, RN7SL263P, ABCB7, AIRE, BIRC3, XIAP, ERCC6L2, CA2, IRF2BP2, BTK, BRCA1, BMPR1A, NDUFS7, CCND1, STX11, SLC7A7, ATRX, ATP7B, GTF2H5, TNFRSF11A, CISD2, BCL10, RBM8A, ENG, STIM1, FANCE, LYRM7, GPT, FANCD2, ERCC2, TBL1XR1, ERCC3, IKZF1, FANCC, TMEM67, EWSR1, MAD2L2, NHEJ1, UMPS, GLA, EXT2, CTC1, COX14, WFS1, ERBB3, FANCG, NDUFAF2, SLX4, FMO3, WT1, FLI1, COA8, G6PC3, CDCA7, FERMT3, SLC19A3, G6PC, ORAI1, G6PD, USB1, PUS1, TMPRSS6, PAEP, HFE, IFNA13, IFNA1, RPS19, IL1B, EPAS1, CHMP2B, ACE, DMRT1, ERFE, TLR9, ABO, IL10, IDUA, PON1, COPD, TGM2, NFE2L2, SLC19A2, JAK1, EPOR, SF3B1, CYGB, CD59, ABCB1, IGF1, GDF15, MIR144, HEPH, PKLR, LCN2, MPO, FCGR2A, VEGFA, SLC28A2, GSTP1, CXCL8, SLC29A1, IL1A, GABPA, THAS, ICAM1, GBAP1, IL18, IL17A, SOD1, EGLN1, CEACAM5, CD274, SEC23B, SLC17A5, B2M, GSTT1, AKT1, ABL1, MIR146A, RARS1, SLC6A8, SLC11A1, TNFSF10, KL, ACR, BACH1, HMOX1, ERVK-20, IFNAR1, SOAT1, ASF1A, ERVW-1, FAS, GATA2, CCL21, TBX1, SETD2, SCD, NOS2, BCL2, CDKN2A, UGT1A1, ERVK-6, LOH19CR1, RLS1, NCOA5, INSRR, BMP4, TLR4, DNASE2, FABP1, VWF, F10, GDF11, KDR, CYP2C8, CD55, DECR1, HPSE, APOA5, MTX1, SLC28A3, CAV2, BPIFA4P, EPCAM, FLOT2, IL2RA, VDR, CA5A, CALCR, CAT, CAV1, EGFR, ERCC1, FTMT, CD34, CD40LG, MBL2, CD47, PGK1, ARL6IP5, GIPC1, IVNS1ABP, PDLIM5, RASA3, TNFSF13B, RTN3, TXNRD2, TRIM13, PPARGC1A, PCLAF, TREX1, BCL2L11, BTG3, KCNE2, NR1D2, GNLY, ADRM1, MFN2, ADAMTS13, AMMECR1, PROCR, NR1I3, NAT2, ARHGEF12, TSPAN33, OR10A4, ALKBH3, JMJD1C, SAMD14, ARID2, ASXL1, BMPER, ZFPM1, IL23R, DIRAS1, B3GLCT, CCDC26, EMB, IL17RE, CTHRC1, MUC16, ATP5IF1, INTS4, BOC, ATP11C, UOX, TMED3, SMIM10L2A, H3P10, THRA1/BTR, PCAT2, LOC102724971, LOC102723407, LINC01152, IFNL4, PCAT1, PSC, WASHC1, C20orf181, TEC, CRPPA, DNLZ, SFTPA1, WASH6P, CXADRP1, SMIM10L2B, MIR22, ESAM, DUOXA1, UBASH3B, ATOH8, PGPEP1, TRIT1, IL17RD, KRT20, BCL11A, IL23A, PRKAG2, AHSP, TLR7, AK3, IL22, IGHV3-69-1, IGHV3OR16-7, SLCO1B3, DKK3, BBC3, SAMHD1, PADI4, MMD, MOCOS, FBXW7, MEG3, IGAN1, ATAD1, BRIP1, STK40, PRSS27, ZC3H12A, DHX40, P2RY12, SLC39A8, BACH2, RBM38, IL21, ZNF471, AICDA, TTC7A, ZC4H2, CACNA2D3, LUC7L, SOX6, LPIN2, PTPN6, TCL1B, FUT1, FOLH1, FLT3, FHIT, FGF2, FECH, FCGR3B, FCGR3A, FCGR2B, FAT1, FABP3, FABP2, F11, F9, F3, ETV6, ESR1, ERBB2, EPHX1, EPHB6, DMTN, ENO1, ADGRE1, EGR1, S1PR1, E2F2, DNMT1, DNASE1, DMD, DHFR, GAST, FUT2, DDIT3, FUT3, LAIR1, KCNQ1, ISL1, ISG20, CXCL10, INHA, IL15, IL13, IL12RB1, IL12A, IL9, CXCR1, IL4, IL1RN, IFNAR2, IFNA8, HSP90AA1, HK1, HGF, CFH, H2AX, GSTM1, GPX4, GPI, GNAS, GCLC, CBLIF, GDF2, GAS6, DGCR, GADD45A, KLK4, BMP1, BCHE, AVP, ATP5F1E, ATP2B4, ARSA, ARR3, RHOC, AR, AQP3, AQP1, FASLG, KLK3, APOH, APOE, APOB, APCS, ANXA6, SLC25A5, ALOX5, ALK, ALCAM, AIF1, AHSG, AHR, AGRP, ADH1B, ADD2, ACTB, ACO1, BCL6, VPS51, DBI, CASP3, CYP1B1, CYBB, CXADR, CUX1, CTNNB1, CTLA4, CSNK1A1, CRYGD, COL11A2, ABCC2, CCR7, CCR4, CHI3L1, CHEK1, AKR1C4, CFTR, CDR1, CDKN1B, CDK4, CDH1, CDC25A, CDAN3, CD69, CD38, CD36, MS4A1, CD5L, RUNX1T1, RUNX1, LCK, LEP, LGALS3BP, TNFRSF1B, TLR3, TLR1, TIMP1, THY1, THPO, TG, TFAP2A, TEK, TRBV20OR9-2, STXBP2, STAT6, STAT5A, STAT1, ST13, TRIM21, SRY, SRC, SPTA1, SPRR2C, SPG7, SOS1, SIGLEC1, SMN2, SMN1, SLPI, SLC20A1, SLC15A1, SLC9A3, SLC4A1, TNFRSF1A, TOP1, LRPAP1, TPMT, FHL5, ADIPOQ, LHX2, EBAG9, FCGR2C, ARTN, H2BC11, TP63, THOC5, SMARCA5, CUL4A, DYRK3, CDR3, TCL1A, HMGA2, ANC, NCOA4, CUBN, HBFQTL2, WNT3, WNT2, BEST1, VHL, VAV1, UQCRFS1, UGT1A, UGCG, UBE2D1, TRV-AAC1-4, SIPA1, SHMT2, SET, SELP, PDCD1, PDC, TNFRSF11B, OAS1, NPPB, NPC1, PNP, CNOT3, NOS3, NOS1, NFE2, NFATC1, NEO1, NEK1, RPL10A, NCAM1, NBN, MTR, CYTB, MT1E, MPG, MIF, KITLG, MET, SMCP, MBP, MAOB, LTF, LTA, PDGFB, PDGFRB, ENPP1, PTPRC, SEA, CCL19, CCL5, CCL2, SCT, ACSM3, RPS15, RPS14, RPS7, RHD, RASGRF1, RAC2, RAC1, PTPN11, PFN2, PTGS2, PTEN, PRCP, PRB1, PPOX, PPARA, POU1F1, PMCH, PI4KA, PIK3CA, PIK3C2A, PGF, PGAM1, H3P22
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Specific Language Impairment
Wikipedia
More commonly SLI results from the combined influence of multiple genetic variants, each of which is found in the general population, as well as environmental influences. [3] Contents 1 Classification 1.1 Terminology 1.2 Subtypes (Rapin and Allen 1987) 1.2.1 Receptive/expressive developmental language disorder 1.2.2 Expressive developmental language disorder syndromes 1.2.3 Higher order processing disorders 1.3 Relationship with other neurodevelopmental disorders 2 Presentation 2.1 Associated factors 3 Genetic 4 Diagnosis 4.1 Assessment 5 Intervention 6 Outcome 7 Prevalence 8 Research 9 See also 10 References 11 Further reading Classification [ edit ] Specific language impairment (SLI) is diagnosed when a child has delayed or disordered language development for no apparent reason. [4] Usually the first indication of SLI is that the child is later than usual in starting to speak and subsequently is delayed in putting words together to form sentences. ... In 1983 Rapin and Allen [10] proposed a classification of developmental language disorders based on the linguistic features of language impairment, which was subsequently updated by Rapin. [11] Note that Rapin is a child neurologist, and she refers to different subtypes as "syndromes"; many of those coming from the perspective of education or speech-language therapy reject this kind of medical label, and argue that there is not a clear dividing line between SLI and normal variation. [12] Also, although most experts would agree that children with characteristics of the Rapin subtypes can be identified, there are many cases who are less easy to categorise, and there is also evidence that categorisation can change over time. [13] Rapin's subgroups fall into three broad categories: Receptive/expressive developmental language disorder [ edit ] Receptive/expressive phonologic/syntactic deficit syndrome is the most common form of SLI, in which the child's most obvious problems are a tendency to speak in short, simplified sentences, with omission of some grammatical features, such as past tense -ed. [14] It is common also to see simplified speech production when the child is young. ... It typically occurs as a symptom of Landau-Kleffner syndrome , in which case a diagnosis of SLI would not be appropriate, as there is a known neurological origin of the language difficulties. Expressive developmental language disorder syndromes [ edit ] Developmental verbal dyspraxia (DVD) – in the child with DVD, comprehension is adequate; the onset of speech is very delayed and extremely limited with impaired production of speech sounds and short utterances. ... Children with DVD also typically have major literacy problems, and receptive language levels may be poor on tests of vocabulary and grammar. [18] Phonologic programming deficit syndrome – the child speaks in long but poorly intelligible utterances, producing what sounds like jargon .PLAT, L1CAM, GRN, ACTB, CFHR3, TCF4, TCOF1, HIRA, UBTF, UFD1, VCP, SQSTM1, ADAMTS2, POLR1C, SEC24C, RAI1, CHMP2B, SMARCA2, NSDHL, POLR1D, TREM2, NDUFB11, TMEM106B, ALG1, EHMT1, L2HGDH, PRRT2, AMER1, CKAP2L, FLCN, C9orf72, TBX1, SCN8A, ACTG1, SCN2A, STS, ARVCF, ATP1A2, ATRX, CACNA1A, COL1A1, COL1A2, COMT, COX7B, FGFR1, GP1BB, GRIN2A, HCCS, CFH, CFHR1, KCNQ2, KCNQ3, KRAS, MAPT, MECP2, OCRL, PLEC, PSEN1, RREB1, SCN1A, JMJD1C, TARDBP, IARS2
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Gestational Diabetes
Wikipedia
An early age of onset or long-standing disease comes with greater risks, hence the first three subtypes. [ medical citation needed ] Two other sets of criteria are available for diagnosis of gestational diabetes, both based on blood-sugar levels. [9] Criteria for diagnosis of gestational diabetes, using the 100 gram Glucose Tolerance Test , according to Carpenter and Coustan: [10] Fasting 95 mg/dl 1 hour 180 mg/dl 2 hours 155 mg/dl 3 hours 140 mg/dl Criteria for diagnosis of gestational diabetes according to National Diabetes Data Group: [9] [11] Fasting 105 mg/dl 1 hour 190 mg/dl 2 hours 165 mg/dl 3 hours 145 mg/dl Risk factors [ edit ] Classical risk factors for developing gestational diabetes are: [12] Polycystic ovary syndrome A previous diagnosis of gestational diabetes or prediabetes , impaired glucose tolerance , or impaired fasting glycaemia A family history revealing a first-degree relative with type 2 diabetes Maternal age – a woman's risk factor increases as she gets older (especially for women over 35 years of age). ... (for example in those with polycystic ovarian syndrome or acanthosis nigricans ). [29] Non-challenge blood glucose tests involve measuring glucose levels in blood samples without challenging the subject with glucose solutions. ... When comparing which diabetes tablets (medication by mouth) work best and are safest, there is not enough quality research to support one medication over another. [73] The medication metformin is better than glyburide . [74] If blood glucose cannot be adequately controlled with a single agent, the combination of metformin and insulin may be better than insulin alone. [74] Another review found good short term safety for both the mother and baby with metformin but unclear long term safety. [75] People may prefer metformin by mouth to insulin injections. [3] Treatment of polycystic ovarian syndrome with metformin during pregnancy has been noted to decrease GDM levels. [76] Almost half of the women did not reach sufficient control with metformin alone and needed supplemental therapy with insulin; compared to those treated with insulin alone, they required less insulin, and they gained less weight. [77] With no long-term studies into children of women treated with the drug, there remains a possibility of long-term complications from metformin therapy. [3] Babies born to women treated with metformin have been found to develop less visceral fat, making them less prone to insulin resistance in later life. [77] Prognosis [ edit ] Gestational diabetes generally resolves once the baby is born. ... Labelling a woman as having GDM may in itself increase the risk of having an unnecessary caesarean section. [91] [92] Neonates born from women with consistently high blood sugar levels are also at an increased risk of low blood glucose ( hypoglycemia ), jaundice , high red blood cell mass ( polycythemia ) and low blood calcium ( hypocalcemia ) and magnesium ( hypomagnesemia ). [93] Untreated GDM also interferes with maturation, causing dysmature babies prone to respiratory distress syndrome due to incomplete lung maturation and impaired surfactant synthesis. [93] Unlike pre-gestational diabetes, gestational diabetes has not been clearly shown to be an independent risk factor for birth defects . ... "Risk of gestational diabetes mellitus in women with polycystic ovary syndrome: a systematic review and a meta-analysis".ADIPOQ, LEP, LEPR, FGF2, MBL2, SOD2, CYP19A1, SIRT3, INSR, AR, MIR133A1, GCK, GPX1, BNIP3L, MET, PPARG, IGF1R, CDKAL1, KCNJ11, IGF2BP2, MTOR, FBN1, GJA1, TCF7L2, INS, SUFU, IL10, SHH, IL6, HNF4A, ERGIC1, LZTR1, GLI2, SIX3, FUZ, IRS1, GAS1, TRIM8, VANGL1, DISP1, FGFR1, CLCNKB, TGIF1, FGF8, TNF, PROKR2, ZIC2, TDGF1, CRP, SOX2, ARNT2, PTCH1, TRIP11, SHBG, OTX2, CDON, NODAL, SLC12A3, FOXH1, MTNR1B, RBP4, DLL1, NKX2-5, HESX1, SOX3, RARRES2, FABP4, RETN, IGF1, SLC2A1, FTO, FGF21, SLC30A8, GCG, CAT, CDKN2A, VEGFA, IGF2, SLC2A4, IL1B, KCNQ1, AKT1, PAPPA, PIK3CD, CAPN10, LPL, GCKR, VDR, ANGPTL8, AHSG, PPARA, HLA-DQB1, GLS2, PPARGC1A, CXCL8, PIK3CA, PIK3CB, HNF1A, PIK3CG, IRS2, SLC29A1, ADRB3, MIR137, ALB, AFM, LOC102723407, PGF, ICAM1, SERPINE1, GPT, NOS3, PRLR, PTX3, CETP, MC4R, VCAM1, SPX, MIF, GH1, GH2, MTHFR, TXNIP, GIP, ENPP1, LIPG, HIF3A, LDLR, ADM, CRY2, TXN, MIR222, TLR4, TGFB1, TERC, SLC30A10, EGF, SREBF1, ESR1, F2R, PER2, KDR, AGER, SLC6A4, LCN2, HP, ADIPOR1, LGALS1, NHS, LIPE, MTNR1A, IGFBP3, SLC27A6, MIR29B1, MIR29B2, ANGPTL4, AQP9, BCL2, CSH2, PDX1, AVP, MMP8, ANPEP, FBXO8, APCS, APOA1, FETUB, MIR330, CSH1, NUCB2, PAX4, SLC2A2, SLC2A3, ADRA2A, SOD1, STK11, ABCC8, ADCY5, ADA, FCN3, ACP1, TIMP1, TLR2, ACACA, VIP, DALIR, AGA, SELENOP, ZGLP1, PRL, HMG20A, PON1, CASP3, PPIA, PRKAA1, ATP6AP2, NAMPT, ROS1, FGF19, PTH, ABCA1, BMS1, MOK, ABCG1, PPARD, IL37, MIR223, FBRS, HLA-G, DPP4, NRG4, HLA-DQB2, HAMP, HHEX, GSTT1, GSTP1, GSTM1, PTK2B, NLRP3, MIR20A, PNPLA2, GOT2, MFSD2A, GNAO1, GLP1R, FOXO1, CD36, FOXO3, EHMT1, FOLR1, GAD1, CDKN2B, HMGB1, GC, MEG3, IFNG, IAPP, NTN1, CLOCK, VPS26A, VPREB1, GDF15, ADAMTS4, FHL5, ABCG2, KLB, ST6GALNAC3, MIR657, FNDC5, CD163, MIR143, CDCA5, MSC, EBAG9, NFE2L3, VIPR2, UNC5B, ARHGEF11, EBI3, FFAR4, MIR146A, MFN2, INO80B, POU5F1P3, OR10A4, PROK1, VIPR1, IL1F10, INSM2, HDAC4, POU5F1P4, LOC646736, UTS2B, SH3PXD2A, SLC7A7, MIR132, AOC3, C5orf34, PER3, SLC16A11, APLN, ZNF236, CDK5R1, CCN4, LYPD6, SLCO6A1, PLA2G7, TRPM6, DGAT1, ANC, LINGO2, MICA, IL34, LINC01672, PICALM, RBM45, MIR4273, PCBP1-AS1, MIR1243, VTN, ARTN, TRIM9, LAT2, MALAT1, APOA5, C20orf181, ACTBL2, CCRL2, ARAP1, WFS1, DIP, MIR155, CYP2R1, PIKFYVE, GSTK1, CDC123, SLC27A1, RAMP3, MIR15A, GAL, SOST, POTEKP, MIR335, TAS2R9, CAMK1D, CD209, LGALS13, APMAP, MIR342, MCAT, MIR21, MIR345, B3GAT1, G6PC2, RNU1-1, PTBP2, CXCL16, HPSE2, PRPF31, ADAMTS9, MIR210, CALCRL, MEPE, DGCR8, MIR23A, NANS, FAM3B, ARID4B, MIR27A, RNLS, GDE1, UBR5, PLAC8, CYB5R4, MIR33A, USE1, SLC2A9, MIR221, MIR96, ABHD5, LGALS14, MIR98, ACOT11, QPCT, SIRT1, PAPPA2, NFAT5, OGA, MIR508, ADIPOR2, MIR19A, LIN28A, PAIP1, FST, CITED2, MIR195, FSTL3, HKDC1, TET2, SCUBE1, MIR183, POTEM, MIR15B, PNPLA3, PRG4, MIR19B1, UTS2, SDS, MGLL, MIR323B, MIR410, DICER1, LPIN1, PLXND1, VASH1, STRA6, COBLL1, ACOT7, UBE2Z, SLC2A6, SLC26A6, MIR494, ADAMTS5, MIR518D, ESM1, SLC27A2, MIR503, SERPINA3, PTPRC, COL14A1, HSPG2, G6PC, FOLR2, FN1, FLT1, FLOT2, FOXC2, FGR, FGF13, FGB, FCN2, FASN, FABP2, F3, EZH2, ELF5, EGR1, E2F1, DUSP9, DSPP, DDIT3, DCX, ACE, DCN, DAPK3, CYP24A1, CYP7A1, CYP1B1, GAD2, GATA3, GCHFR, GZMM, HSD11B2, HSD11B1, HRC, HOXD13, FOXA2, HMGCR, HLA-DRB1, HLA-DQA1, HLA-A, HIF1A, HFE, HDAC2, GYS2, MSTN, GSTA1, GSR, NR3C1, GRB14, GPR1, GNB3, GNAS, GLO1, GIPR, GHSR, GHR, GFAP, CYBB, CX3CR1, CTSB, ALAD, B2M, ASCL1, ARNTL, ARNT, APOC3, APOB, ANXA2, ANXA1, ANGPT2, BIN1, AMH, AMBP, NR0B1, BDNF, APLNR, AGTR1, AGT, AGRP, ADRB1, ADORA2B, ADK, ADCYAP1, ACTG2, ACTG1, ACTB, ABO, BAX, BGLAP, CTF1, CDH5, CREB1, CPA1, CORT, COL6A2, ABCC2, CMKLR1, CLK1, CLU, CLCN2, CHRM3, CEACAM8, CDK4, CDK1, BID, CD68, CD59, CD44, CD34, CD86, MS4A3, CCNG2, CAV1, CASR, CASP8, CALM1, TSPO, HSPA4, HTC2, UBE2E2, HTR2A, SFRP4, SELE, SDHC, CCL2, SCD, SAT1, TSPAN31, S100A9, RXRG, RXRA, RREB1, RPS14, RPS6KB1, ROCK1, REN, RAP1A, PVT1, PTPRN, PTGS2, PTGFRN, PTEN, PTBP1, PROX1, MAPK8, PRKAB1, PRKAA2, POU5F1, SFTPB, SFTPC, ST3GAL4, PRDX2, TTN, TRPC3, TPO, TPH1, TSPAN8, TLE1, TIMP3, THBD, TGFBR1, TG, TFRC, TERT, TRG, SLC7A1, TRBV20OR9-2, GCFC2, HNF1B, TBL1X, TAGLN, STAT5A, STAT3, SSR1, SREBF2, SPARC, SOS1, SOAT1, POMC, POLR2G, PLTP, ITGAX, SMAD2, SH2D1A, LUM, LNPEP, LMNA, FADS3, FADS1, LHCGR, LDHA, LCT, KISS1, KCNB1, INSIG1, MEN1, CXCL10, IL18, IL17A, IL15, IL12A, IL4, IL1RN, IL1R1, IGFBP4, IGFBP2, IGFBP1, HTR2B, MECP2, MEST, PLIN1, NPPB, PLG, PITX3, ABCB1, PGM1, VIT, PECAM1, PDE6A, PCK1, PAK1, SERPINB2, OLR1, OGG1, NOTCH2, MGAT1, NOS2, NOS1, NFE2L2, NEUROD1, MYD88, RNR2, MTR, ND1, COX2, MNAT1, MMP9, MGAT2, UPK3B
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Amyotrophic Lateral Sclerosis
Wikipedia
Flail arm syndrome and flail leg syndrome are often considered to be regional variants of PMA because they only involve lower motor neurons. ... These regional variants of ALS cannot be diagnosed at the onset of symptoms; a failure of the disease to spread to other spinal cord regions for an extended period of time (at least 12 months) must be observed. [30] Flail arm syndrome, also called brachial amyotrophic diplegia, [a] is characterized by lower motor neuron damage in the cervical spinal cord only, leading to gradual onset of weakness in the proximal arm muscles and decreased or absent reflexes. Flail leg syndrome, also called leg amyotrophic diplegia, [b] is characterized by lower motor neuron damage in the lumbosacral spinal cord only, leading to gradual onset of weakness in the legs and decreased or absent reflexes. ... Myasthenic syndrome , also known as Lambert–Eaton syndrome, can mimic ALS, and its initial presentation can be similar to that of myasthenia gravis (MG), a treatable autoimmune disease sometimes mistaken for ALS. [95] [96] Benign fasciculation syndrome and Cramp fasciculation syndrome are other conditions that mimic some of the early symptoms of ALS, but are accompanied by normal EMG readings and no major disablement. [97] Most cases of ALS, however, are correctly diagnosed, with the error rate of diagnosis in large ALS clinics being less than 10%. [98] [99] One study examined 190 people who met the MND/ALS diagnostic criteria, complemented with laboratory research in compliance with both research protocols and regular monitoring. ... The person with ALS will continue to lose motor function, making communication increasingly difficult and sometimes leading to locked-in syndrome , in which they are completely paralyzed except for their eye muscles. [18] About half of the people with ALS who choose to undergo invasive ventilation report a decrease in their quality of life [19] but most still consider it to be satisfactory.C9orf72, SOD1, PON1, ATXN2, FUS, TARDBP, TAF15, OPTN, SQSTM1, MATR3, TBK1, UNC13A, CHMP2B, NEK1, DAO, CFAP410, DCTN1, SIGMAR1, TREM2, CHCHD10, ANG, NEFH, UBQLN2, EPHA4, PFN1, HNRNPA1, VCP, VAPB, PRPH, SETX, HNRNPA2B1, PPARGC1A, DPP6, CCNF, ANXA11, GLT8D1, ERBB4, GLE1, FIG4, SCFD1, SLC1A2, EWSR1, PON2, PON3, GFAP, MOBP, TP53, ARHGEF28, PTGS2, SOD2, GSR, TNFRSF21, SLC6A1, CD40LG, PLA2G4A, CAMK1G, DBR1, GSTP1, ADARB1, CASP3, AQP4, C5AR1, C3, NEFM, KCNJ10, BCL2L1, ZNF106, KIF1B, MSTN, CASP9, PSMC4, PTPRZ1, RARA, EPG5, ALS2, CASP12, MAPT, IGF1R, IGF2R, TUBA4A, KIFAP3, KIF5A, TRPM7, SARM1, ATXN3, SPG11, PSEN1, TNIP1, SUSD2, MOB3B, DCDC2, HFE, CENPV, SUN3, CST3, DCTN4, ST3GAL3, GTF2H1, ICE1, GRN, CSF2, SUN2, GRIA2, CPNE4, LAMA3, LAMC2, PTBP1, STMN1, NUP62, STK36, MAK16, NUP98, NEFL, GABPA, SRRM2, RBMS3, NFE2L2, GRIP1, GDNF, ARAP2, APTX, SCN8A, NPEPPS, APP, KIAA0513, SMN1, ARHGEF2, WASHC5, SNURF, APOE, TIAM1, AR, NRXN1, TNF, IGFALS, KHDRBS1, IGF1, PNO1, VEGFA, BDNF, ACTB, BCL2, SNCA, SMN2, NME9, GTPBP1, CNTF, KIAA0040, PIGL, SNRPN, ADA, SIRT1, CCL2, GRM2, IL6, MAPK1, TIA1, CDK5, P2RX7, CHI3L1, GPNMB, RIPK1, MIR206, CHGB, CHIT1, P4HB, GRM5, PARP1, IL1B, HTT, TNFRSF1B, EPO, MIR338, LY6E, VGF, ABCB1, MCIDAS, GRM1, DECR1, APEX1, CYBB, PINK1, ZNF512B, XBP1, HCLS1, ADIPOQ, HGF, MMP9, LMNB1, ATG5, NGF, NRG1, SIGLEC7, GRIA1, TANK, DNM1L, KHSRP, FGF2, SS18L1, CSF3, TUSC2, IL2RB, PSIP1, HSPB1, RBM45, TCF3, RAN, CUX1, RNF19A, MAPK14, NLRP3, SMUG1, SFPQ, CASP1, AIF1, ZNF569, KEAP1, TPPP, MST1, CHCHD2, RNASE4, RBM8A, RREB1, MSC, TMEM189-UBE2V1, OXR1, TMEM189, CHGA, ATXN2-AS, RRM2, CX3CR1, ZNF629, ATF6, TMED9, CNR2, ASPM, ZNF253, NAIP, ELP3, LGALS3, HRES1, PPARG, UBE2V1, FMR1, ERN1, EPHB2, LCN2, HNRNPA1P10, HSF1, TTR, ASPA, ASIP, SEMA3A, VDAC1, ZNF763, A1CF, TLR4, CAT, CCS, THY1, ZNF436, HSPA4, ROPN1L, NIPA1, EDN1, CDK5R1, TGM2, TNPO1, CASZ1, CXCL8, RTN4, LGALS1, RNASEL, TMEM106B, S100A6, SLC1A1, SOX2, STAT3, TFAM, TGFB1, SUMO1, AHSA1, SLC35A1, VRK1, CLEC10A, AIMP2, ELP1, HNRNPDL, VAPA, GRAP2, S100B, RRM1, VPS54, RNASE1, MSMB, FIS1, COX2, FOXP3, NOS1, NOS2, NTF3, P2RX4, HSPB8, PIN1, POLDIP2, PTPA, MAP2K5, PRNP, RAG2, IL4, GAL3ST1, CRK, AGER, HNRNPH2, ADAR, HNRNPC, CRP, EGFR, ADCYAP1, LMLN, MIR155, PRMT1, SUGP1, ANPEP, HNRNPH1, MTOR, CST12P, FXN, C19orf12, PDIA3, CTNNB1, GAPDH, TMPRSS13, CYP27A1, HIF1A, CS, LRRK2, IFNG, ALAD, DES, CP, CCL27, FCGR3A, PPIA, PHGDH, SLC52A3, FCGR3B, CFDP1, NEAT1, SPAG11B, ATRNL1, SLC30A3, ATM, PRRT2, SYT1, FMO1, CST7, GAP43, PDLIM3, GSTK1, SIRT2, XIAP, DENR, CAV1, SLPI, CAST, TFEB, FN1, CCR2, PRKN, APRT, STMN2, TLR2, TFPI2, ATHS, PDC, MAPK8, CREBBP, UCHL1, MOK, NOP56, SLCO6A1, RANBP2, ATG7, DNMT1, RASGRF1, UCP2, RELA, TSPO, PRKCA, TXN, CTBS, SIRT3, RRAD, TTN, CTF1, ATP13A2, TRPM2, ATXN1, RAB5A, DAPK2, PVALB, UTRN, PRKCB, XBP1P1, FBXO32, SPAG11A, BECN1, RAB3GAP2, WNT5A, EPHA3, EPHA1, VSNL1, CRMP1, VIM, EIF4G2, PSMD2, SGCG, VDR, PTGER2, TNFRSF1A, EGF, HPGDS, GARS1, TSHZ1, MAOB, SNPH, HDAC4, SRR, NAT10, SPAST, LIG4, LRP4, MIR146A, HMOX1, HMGB1, LSM2, MAP2, SIL1, GORASP1, PDIA2, MTHFSD, NPY, ERVK-12, SOX9, ERVK-2, LEP, ERVK-11, MFAP1, MTCO2P12, GJD2, IL10, RIPK3, DDX20, ABL1, SLC17A6, STAT5A, PCYT1B, IGF2, CTR9, FGGY, TDP1, CCDC88A, HDAC9, ABCG2, MFN1, KDR, TEAD1, RHOT1, DNAJB2, MET, ERVK-22, KITLG, CHAF1A, LINC01672, CHI3L2, UBQLN1, MALAT1, FNDC3A, GLS, PADI1, ASRGL1, NRP1, CLU, GH1, SNAP25, RAB11A, DBNL, NFKB1, ALYREF, MIR1825, CCN2, NOTCH1, KCNIP3, HSP90B2P, PIK3R4, ARHGEF7, ALB, GEMIN4, ALPP, SOS1, HDAC6, ALS3, DERL1, WNK1, AKT1, GPX3, HDAC1, MTHFR, SLC25A37, AKT3, PNPLA6, LILRA2, MIR193A, RBBP9, PAPOLA, NES, YWHAQ, ARPP21, MIR29B1, MIR93, JTB, MIR29B2, MRPS30, MIR143, MIR23A, MIR15A, MIR183, ERGIC1, OGA, P2RX5-TAX1BP3, OLIG2, EBI3, NAMPT, MIR4299, PPIF, ABCC9, SH2B3, OCLN, FGFBP1, MFN2, MIR4649, CALCOCO2, PINK1-AS, LZTS3, ELDR, TPTEP2-CSNK1E, GDA, CREB5, H3P13, CCL4L2, PTGES, BAG3, GDF11, GLYAT, TSBP1, LOC643387, MIR17HG, MIR326, MIR375, ERLIN1, MIR378A, MIR494, MIR193B, MIR524, ZNF704, POU5F1P3, POU5F1P4, RAMP3, CARM1, UNC13B, MIR582, OLFM1, RACK1, TUBA1B, MIR638, LANCL1, STUB1, MIR1246, POTEF, CLEC4C, MIR142, NOP53, SRCIN1, RUBCNL, IFT74, UBN1, ATAT1, DHDDS, SLC40A1, FLVCR1, KCNIP1, ASAP1, GGNBP2, ASCC1, HDAC11, ATL1, ARHGAP24, REM1, MIR139, TTBK1, PABPC1, CYFIP2, NOX1, ATAD1, ANKRD1, CACYBP, AGO2, HTRA2, HCAR1, TUBGCP4, BTBD10, COQ2, POLDIP3, EIF3K, GEMIN6, MMP28, NMD3, NLN, FAM160B1, SLC30A6, MAGEE1, NGLY1, KCNT1, ZKSCAN7, PRMT8, APH1A, LXN, FAM20C, NUP107, SLC12A5, NDRG2, MCOLN1, SAGE1, HAMP, NGB, WDR41, RMDN3, MTPAP, COP1, WIPI1, XRN1, P2RY12, DCUN1D1, IL23A, SIRT6, BCL11B, IGF2-AS, ACD, CUEDC2, BSCL2, AATF, WNT3A, CAMTA1, HCA1, NUP205, ATG4B, MLC1, PLCB1, ALS2CL, MGRN1, TICAM1, BICD2, SPDYA, HNRNPA3, MED19, FLCN, SIRT5, WDTC1, MIF-AS1, TAAR6, MYH15, P2RX2, GADL1, TGM6, ERCC6L2, KMT5A, ATG14, CCL4L1, AAK1, MGLL, MIRLET7B, PDAP1, MIR126, PARK7, JPH3, TTBK2, FGF21, GLCE, GRIN3B, NT5C3B, CARD16, AZIN2, L3MBTL1, OSBPL3, EGLN3, SYT9, DNER, NOC2L, MTDH, MCU, SPAG8, ANKRD2, THEM4, PANX1, ZFYVE27, TFIP11, PPIL2, SLC7A11, PPP1R15A, TPH2, CD2AP, JDP2, PDSS1, DDX58, PPARGC1B, PADI4, TRIM69, CABIN1, SMCR8, A1BG, SUMO2, GDF15, GHR, GJB1, GCLM, GLUL, CXCR3, GPX7, GRIA3, GRIA4, GRIK1, GRIN2A, GRM3, CXCL1, GSK3B, HADHA, HDAC2, HEXA, HK1, HLA-B, MNX1, HLA-DRB1, HLA-DRB5, HLA-F, GJA1, GFRA1, ADAMTS3, GEM, ESR1, ESR2, ETS2, EZH2, F9, PTK2B, FGF1, FGF13, FKBP4, FKBP5, FMO3, AFF2, FPR2, FRAXE, FTH1, FTL, FZD2, GBA, GBAP1, GC, GCG, HMOX2, HNMT, HNRNPK, HP, ITGB2, ITPR1, ITPR2, ITPR3, JAG2, JAK3, KCNJ8, KCNJ11, KCNK2, KIF5B, KIR3DL1, LAMC1, LGALS2, LGALS4, LIF, FADS3, LTBR, LUM, SH2D1A, MARCKS, MAP1B, ISG20, IRF3, IRF1, IFRD1, HPGD, AGFG1, HES1, HSPA8, HSPB2, DNAJB1, HTC2, ID2, IFNGR1, IGFBP5, INPP5B, IGFBP7, IL1A, IL2, IL2RA, IL13, IL15, IL17A, IL18, CXCL10, EREG, EPHB1, ENG, CD36, BAG1, BAX, BBS2, CCND1, BMP4, BNIP1, BNIP3L, BRCA1, CACNA1A, CACNA1S, CALB1, CALB2, CALR, CAMK4, CAPG, CAPN1, CAPN2, CASR, CBR1, CBS, CD14, ATP7A, ATP5F1A, ARG1, ADH5, AOC1, ACAT2, ACHE, ACP3, ACTA1, ACTN3, ACY1, ADARB2, ADCYAP1R1, JAG1, FAS, AHR, AK4, ALOX5, ALOX15, AMPH, ANGPT1, APCS, APOA1, APOB, CD34, CD40, ELAVL4, CD59, CTSL, CYP1A1, CYP1A2, CYP2D6, CYP19A1, ACE, DCX, DDIT3, DDX3X, DHFR, DLD, DMD, DYNC1H1, DNMT3A, DPYD, DPYSL2, EFNA5, EFNB1, CELSR3, EGR1, ELAVL1, CTSD, CSNK1E, CSNK1D, TBCB, CD68, CDK2, CDK9, CDKN2A, CDKN2D, CEBPD, CTSC, CEACAM4, CHRNG, ABCC2, CRYM, CNR1, CNTFR, COL4A2, COL11A2, COL19A1, CORD1, MAP3K8, COX8A, CREB1, MB, MBP, MC4R, RNF112, TAT, TGFB2, TIMP1, TIMP2, TIMP3, CLDN5, TP73, TPO, NR2C2, TRN-GTT2-1, DNAJC7, UBC, UBE2H, UCP1, UCP3, SCGB1A1, UGCG, XDH, XPO1, XRCC1, XRCC5, MAP3K7, TACR1, TAC1, SOAT1, SHBG, SHH, SI, SLC1A3, SLC8A3, SLC12A2, SLC12A4, SUMO3, SERPINA3, SOD3, SYP, SOX5, SOX10, SPP1, SREBF1, SST, SULT1E1, STXBP1, SUPT4H1, ABCC8, YWHAZ, TUBA1A, SEL1L, CXCR4, MGAM, HSPB3, SELENBP1, UNC119, INA, P2RX6, SLC33A1, XPR1, KLF4, ZNHIT3, CD163, LONP1, KL, CHST2, GSTO1, MAP4K4, EIF2AK3, HOMER1, PICK1, ROCK2, ADAMTS4, RAB29, BCL10, CACNA1H, DYNLL1, SCG2, PABPN1, CDC7, GEMIN2, MAP4K3, PPM1D, FCN3, BLZF1, LGR5, TNKS, SYNJ2, DGAT1, TNFSF14, TNFRSF10B, IL18R1, PROM1, ASAP2, ALDH1A2, NR1I2, SYNJ1, SGK1, CX3CL1, DNAJB9, P2RY2, MYOD1, NAP1L1, CEACAM6, NCAM1, NEDD8, NEUROG1, NFIL3, NGFR, NONO, SLC11A2, NRF1, NRGN, NTF4, NTRK1, NTRK2, NTRK3, OPA1, OSBP, P2RX1, P2RX3, P2RX5, MYO6, MYH9, MYH6, MMP14, MDH1, MECP2, MEF2A, MEF2C, MAP3K5, MICE, MIF, MIP, MMP7, MPZ, MYC, MRC1, MS, MT1A, MT1B, ATP6, NUDT1, ND5, MUSK, MYBPH, P2RY1, PAH, CCL18, REG3A, PTPRN, PURA, RAB1A, RANGAP1, RBP4, REG1A, UPF1, REST, RET, TRIM27, ROS1, RPS17, RPS25, RPS27A, SORT1, S100A4, S100A8, S100A9, SCD, SCNN1A, CCL4, PTGER3, PTEN, PTAFR, PLEC, PAWR, PCBP1, PCSK2, SERPINF1, PFN2, PGK1, PHB, SERPINA1, PLCD1, PLP1, PSMA7, PLXNA2, POMC, POU5F1, PPID, PKN1, MAPK3, MAPK9, EIF2AK2, PSAP, H3P40
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Dihydrolipoamide Dehydrogenase Deficiency
Gene_reviews
Features of the Early-Onset Neurologic Phenotype View in own window Disease Features Frequency 1 % Clinical presentation 2 Hypotonia 16/25 64 Developmental delay 12/25 48 Emesis 12/25 48 Hepatomegaly 10/25 40 Lethargy 8/25 32 Seizures 7/25 28 Spasticity (hypertonia &/or hyperreflexia) 7/25 28 Leigh syndrome phenotype 6/25 24 Failure to thrive 6/25 24 Microcephaly 5/25 20 Vision impairment 4/25 16 Ataxia 3/25 12 Cardiac involvement 3/25 12 Laboratory abnormalities Metabolic acidosis 3 22/25 88 ↑ plasma lactate 4 18/25 72 ↑ urine α-ketoglutarate 4 13/25 52 Hypoglycemia 5 12/25 48 ↑ plasma BCAA 4 10/25 40 ↑ transaminases 11/25 44 ↑ urine branched-chain ketoacids 4 7/25 28 Hepatic failure 5/25 20 ↑ plasma allo-isoleucine 4 4/25 16 Low free plasma carnitine 6 3/25 12 Hyperammonemia 7 4/25 16 Includes only individuals biochemically confirmed to have DLD deficiency BCAA = branched-chain amino acids 1. ... Some individuals with DLD deficiency have features of Leigh syndrome [Quinonez et al 2013]. Leigh syndrome consists of characteristic clinical findings and brain pathology. The diagnostic criteria for Leigh syndrome include: (1) progressive neurologic disease with motor and intellectual developmental delay; (2) signs and features of brain stem or basal ganglia disease; (3) elevated lactate levels in the blood or cerebrospinal fluid; and (4) one or more of three features: Characteristic features of Leigh syndrome on neuroradioimaging (symmetric hypodensities in the basal ganglia on computed tomography, or hyperintense lesions on T 2 -weighted MRI) Typical neuropathologic changes at postmortem examination Typical neuropathology in a similarly affected sib Liver abnormalities. ... Liver biopsies have shown increased glycogen content and mild fibrosis or fatty, acute necrosis with a Reye syndrome-like appearance. Cardiac dysfunction.
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Parkinson's Disease
Wikipedia
Several neurodegenerative disorders also may present with parkinsonism and are sometimes referred to as "atypical parkinsonism" or "Parkinson plus" syndromes (illnesses with parkinsonism plus some other features distinguishing them from PD). ... The clinical course of the illness over time may reveal it is not Parkinson's disease, requiring that the clinical presentation be periodically reviewed to confirm accuracy of the diagnosis. [31] [84] Other causes that can secondarily produce parkinsonism are stroke and drugs. [84] Parkinson plus syndromes such as progressive supranuclear palsy and multiple system atrophy must be ruled out . [31] Anti-Parkinson's medications are typically less effective at controlling symptoms in Parkinson plus syndromes. [31] Faster progression rates, early cognitive dysfunction or postural instability, minimal tremor or symmetry at onset may indicate a Parkinson plus disease rather than PD itself. [85] Genetic forms with an autosomal dominant or recessive pattern of inheritance are sometimes referred to as familial Parkinson's disease or familial parkinsonism. [16] Medical organizations have created diagnostic criteria to ease and standardize the diagnostic process, especially in the early stages of the disease. ... This finding is not entirely specific, however, and can be seen with both PD and Parkinson-plus disorders. [90] In the United States, DaTSCANs are only FDA approved to distinguish Parkinson’s disease or Parkinsonian syndromes from essential tremor . [95] Differential diagnosis Other conditions that can have similar presentations to PD include: [96] Arthritis Corticobasal syndrome Dementia with Lewy bodies Depression Drug induced parkinsonism Fragile X-associated tremor/ataxia syndrome Frontotemporal dementia and parkinsonism linked to chromosome 17 Huntington’s disease Idiopathic basal ganglia calcification Multiple system atrophy Neurodegeneration with brain iron accumulation Normal-pressure hydrocephalus Obsessional slowness Progressive supranuclear palsy Psychogenic parkinsonism Toxins Wilson’s disease Vascular parkinsonism Prevention Exercise in middle age may reduce the risk of Parkinson's disease later in life. [18] Caffeine also appears protective with a greater decrease in risk occurring with a larger intake of caffeinated beverages such as coffee. [97] People who smoke cigarettes or use smokeless tobacco are less likely than non-smokers to develop PD, and the more they have used tobacco, the less likely they are to develop PD. ... Medications, surgery, and physical treatment may provide relief, improve the quality of a persons life, and are much more effective than treatments available for other neurological disorders like Alzheimer’s disease, motor neuron disease , and Parkinson plus syndromes . [101] The main families of drugs useful for treating motor symptoms are levodopa (always combined with a dopa decarboxylase inhibitor and sometimes also with a COMT inhibitor , dopamine agonists and MAO-B inhibitors . ... This is now discouraged since it can bring on dangerous side effects such as neuroleptic malignant syndrome . [103] Most people with PD will eventually need levodopa and will later develop levodopa-induced fluctuations and dyskinesias. [103] There are controlled-release versions of levodopa.SNCA, PINK1, DRD2, TH, DDC, MAOB, ATP13A2, PRKN, SLC18A2, PARK7, DRD1, IGF1R, LRRK2, BST1, MAPT, GBA, GAK, HLA-DRA, CYP2D6, CP, PPARGC1A, TNF, SOD2, SOD1, BDNF, ABCB1, VPS35, IL6, NOS1, PARK16, MTHFR, GDNF, GFAP, TMEM230, MAOA, DNM1L, GSTM1, HFE, HMOX1, HSPA9, SLC6A3, DDIT4, GSTP1, CYP2E1, MAP3K5, NGF, AIF1, NQO1, IGF2, GSTA4, TRPM2, IGF2R, INS, HLA-DRB5, GPX1, TCL1B, MIR181C, MTA1, ENO2, BAG5, MAG, FCER2, HGF, HSPA1A, FBP1, INSR, HSPA8, NCAPG2, HBG1, RPL23A, GSK3B, HSPA4, NR4A2, RPS8, COL19A1, TALDO1, SLC30A10, DRAXIN, PITX3, CNTNAP2, NECTIN2, IL1B, ADARB2, CEACAM6, TFAM, MAP2, EDN1, FGB, KCNJ4, RPL6, RPL14, SLC2A14, OPTN, SPR, TWNK, ATG7, GRK5, HTR1A, PENK, GDF5, PPP1R9B, ADH7, DLG4, ABL1, HSF1, LEP, PTN, HSPD1, ND3, GRK6, DLG1, DBN1, ADCY5, HCN3, CCN2, FEZ1, APOE, FASLG, COX10, GJC2, RRN3, RIT2, GCH1, ARPC3, GRK3, GRK2, STK39, LAMP3, SLC41A1, CCDC62, MCCC1, GPNMB, DGKQ, TMEM175, VPS13C, STH, HLA-DRB1, SIPA1L2, CTSB, SREBF1, HIP1R, NUCKS1, MAPT-AS1, RAI1, BCKDK, BIN3, RREB1, TCEANC2, TPM1, PAM, DLG2, ITPKB, MMRN1, KANSL1, FAM47E, ITGA8, LHFPL2, SH3GL2, LMNA, FAM47E-STBD1, NSF, INPP5F, TMC3-AS1, CCDC82, DRD3, SLC50A1, DSCAS, MUL1, RABEP2, NOS2, MANF, ADORA2A, WBP1L, AIMP2, PLPPR1, PTEN, GBF1, EEF1A2, DNAJC1, BAP1, NEFL, SQSTM1, PIP4P2, EIF4G1, PLA2G6, GPR65, MX2, ESR1, PDSS2, NFE2L2, TBC1D5, LINC02224, SMUG1, HTT, SIRT1, TARDBP, SF3B1, GSTT1, LAMC2, GRM5, LRRK2-DT, FRY, FBXO7, GRIN2B, RNF19A, GRN, LINC02451, ACHE, SYNM, RAB29, AHSA1, IL1A, IL10, IGFALS, IGF1, CIT, ITIH1, SIRT2, MCF2L, RET, LOC107987479, TBC1D9, MPHOSPH6, SYT11, TNK2, GPR37, GIGYF2, POLDIP2, MAP4K4, SNCAIP, IP6K2, FYN, MTOR, ATXN3, SYT17, FMR1, FGF20, DCUN1D1, GRAP2, TREM2, MPZ, TET2, CNNM2, GABPA, CHCHD2, GAPDH, ZNF646, GBAP1, GCG, LINC02210-CRHR1, LINC02471, CTNNA3, REM1, HTRA2, HPGDS, GLP1R, CTIF, LY6E, PLEKHM1, LRP2, KCNIP4, ATXN2, ZP3, PARK3, TPTE2P6, PM20D1, LINC02210, MAPK1, TP53, TPO, LINC01121, SLCO6A1, DPY19L2P3, CA8, CDNF, TYW1B, APP, POLG, CNTN1, COL5A2, COL13A1, KLHDC1, COMT, BORCS7, AGAP1, CRHR1, CRK, PIK3CD, CRP, RAB39B, GSTK1, TLR4, CHM, CASP3, PIK3CG, PRSS53, PIK3CB, PIK3CA, TMC3, ALDH1A1, C9orf72, NAT2, ASXL1, PARK10, SPTSSB, SPPL2C, CDH8, CDK5, PRNP, MCIDAS, MDGA2, TMEM229B, PTGS2, CBLL2, THY1, CNKSR3, CASC16, TMPRSS9, SNCA-AS1, NLRP3, RPA2P1, MAPK14, NDUFAF2, UCHL1, SMPD1, YWHAE, BCHE, ALDH2, BCL2, SCN2A, CCL2, AKT1, LINGO1, WNT3, VDR, SLC45A3, CYP17A1, MAPT-IT1, UNC13C, SNCG, CCNT2-AS1, ADAMTSL1, CTSD, TPTE2, BORCS7-ASMT, ZNF165, PREP, SLC2A13, PON1, SNCB, BRINP1, CSF2, ACE, PAFAH1B1, ZSCAN16-AS1, NRTN, CAB39L, DBH, VEGFA, HCRT, GAD1, FUS, SLC11A2, CXCL8, SLC6A4, PARP1, CRMP1, DENR, PPARG, ULK1, DNAJC13, P2RX7, REG1A, IFNG, UTRN, MIR133B, DAPK2, LAMP2, APLN, CTNNB1, TYR, HIF1A, ESR2, PAEP, HNMT, CYP1A2, MC1R, EHMT1, LRRK1, ACMSD, CALB1, USP24, NUP62, CASP9, GRIN2A, TSPO, S100B, CAT, LMX1A, TAC1, GTF2H1, UBE2K, SIRT3, TLR2, LINC01672, DYRK1A, CNR2, ADRB2, CNR1, PDE10A, SYNJ1, HSP90AA1, KHDRBS1, SLC1A2, TPPP, ANG, DNAJB1, ZGLP1, CHRNA4, RMDN3, SCARB2, GIP, LILRB1, DCTN4, PSPN, ROS1, TGFB1, ACTB, SERPINA3, DECR1, IL17A, GRM4, PSPH, CRYZ, STX1B, HTR2A, SLC6A2, BPIFA2, STXBP3, MSMB, MPO, AGER, MAPK8, MEF2D, LMX1B, RIDA, HMGB1, CAV1, CXCR4, CYBB, TOMM40, POTEKP, CCR2, REST, MIR433, AQP4, AGFG1, POTEM, SIGMAR1, ACOT7, ACTG1, MIR34B, ZFPM1, RPS27A, RMDN2, CLOCK, FHL5, NMS, COX2, GSTO2, SUCLA2, SYBU, UBC, BECN1, CST3, CYP1A1, NTS, NNMT, NTF3, DRD4, TFEB, PPP1R2C, RMDN1, MMP9, NQO2, MIR221, TBP, ACTG2, ACTBL2, STAT3, CHMP2B, MFN2, CHCHD10, GSTM2, DNAJC6, GLA, CCK, PLK2, NEDD4, NPC1, VCP, PICALM, NGFR, SYP, SEPTIN4, TRPV1, PTPA, NPY, XBP1, LCN2, TFRC, MAPK3, SKP1, AKR1A1, PRDX2, GDF15, GSTO1, MMP3, LAG3, KLK6, OGA, PSEN1, DNAJB6, PHOX2B, CDK5R1, CXCL12, TCF3, CX3CL1, A2M, REN, CREB1, SNHG1, MIR34A, MIR205, DNM3, MALAT1, NEAT1, GLRX, RLS1, DNAJB1P1, LINGO2, ZNF746, CUX1, SV2C, CYP2D7, DMRT1, NIF3L1, ELAVL4, FKBP1A, ELK3, EPHB1, SLC2A9, FGF2, PTK2B, FABP3, ATF4, RHOT1, MIR4697, HP, HSPA5, ADCYAP1, ICAM1, APOA1, IAPP, CX3CR1, MAP1LC3B, WNT1, AGT, CYP2B6, VIPR2, OGDH, OGG1, VDAC1, APRT, NRGN, P2RX3, VCAM1, AGTR1, UCP2, CTSL, PEBP1, UBB, PINK1-AS, PROKR2, TMEM163, RAB10, NRF1, ADH1B, MOK, RAC1, NR1I2, PARL, F2, ACP3, RAB1A, EPHB2, MARK2, NDUFV2, TRPC1, NEDD9, PVALB, RTN4R, RIC3, HSD3B7, DNMT1, ADH1C, DNAJC5, YWHAZ, TSC2, CLU, PCNA, PACRG, PSMC4, PON2, PPARA, PPARD, MIR29C, PRKAA1, HOTAIR, PRKAA2, PRKAB1, AVP, SMN2, SMN1, PRKAR2A, PRKD1, SGCA, MIR135B, ASAH1, ARNTL, WASH6P, FAS, SKIL, APEX1, MIR200A, SEPTIN5, ATXN8OS, SIAH1, PDE4A, CHRM3, PDYN, TIMP2, ALB, CFP, CDKN2D, CDKN2A, CD38, MIR19B1, WASHC1, USP40, APAF1, PIN1, CASP1, CALCA, SST, PNOC, MIR195, TFR2, IL4, DCTN1, DCDC2, FKBP1AP2, FOXA2, TRAP1, ATG12, GAP43, GRIA2, FKBP1AP3, FKBP1AP4, PRRX2, HMOX2, FTL, MSC, MEFV, FKBP4, ISYNA1, GPX4, NCS1, PPIG, FOXO1, LSAMP, TLR9, LGALS4, MACF1, LAMP1, LRPPRC, ATG5, GRIN2D, MFAP1, BAG3, LDLR, LRP10, GRM2, IREB2, KEAP1, COQ2, FAF1, SBNO2, VPS41, SGSM3, NOX1, SEMA5A, IL1RN, PSIP1, FKBP1AP1, TOMM20, CYP4F3, SLC40A1, PTPN22, GLUD2, SBNO1, IL18, MIR27A, MIR185, MIR137, SNAP25, MIR132, MIR126, TAL1, MIR29A, SP1, SRY, PPIF, MIR204, SPG7, SPP1, FBXO8, MIR21, HDAC6, MIR212, MIR223, USP15, MIR22, RNF11, SOAT1, SNRPF, SNRNP70, SOD3, BDNF-AS, BACE1, FST, ARL6IP5, NLRP1, P2RX5-TAX1BP3, SCD, TXNIP, MGLL, CHP1, MIR4519, HRH3, NES, OPN1MW3, RIPK3, RAB32, TMED10, RNASE4, RNASE1, MTCO2P12, PRSS21, TRIM27, RFC1, LINC02605, H3P13, RENBP, CCL5, P2RX2, ATP6AP2, ABCA7, SMARCA1, CD2AP, SLC22A1, SLC18A3, SRRM2, MIR326, SLC16A1, SLC8A1, MIR494, MIR505, ARC, UCA1, RNF41, MPRIP, HMGXB3, ST3GAL2, MIR563, SI, SHMT2, TRIM32, SHMT1, OPN1MW2, SGTA, SIGLEC7, SPHK1, ERCC6L2, TET1, P2RX6, AXIN2, NEUROG2, NOD2, FBRS, HS1BP3, DDRGK1, SLC52A2, PANK2, MAP3K13, NELFE, H3C1, RAB7A, XPR1, COASY, ZNF184, NDFIP1, EGLN1, MFHAS1, GPR55, KLF4, RNF146, HIVEP3, H3C4, XIST, TMED9, TRPM7, CISD1, RIPK1, DNAJC12, B3GALT4, H3C7, PDE8B, KHSRP, SLC17A6, MGAM, STBD1, H3C3, NOL3, SEMA6A, H3C2, H3C10, H3C12, TMEM106B, H3C8, H3C11, H3C6, TRIB3, C19orf12, SESN2, TCOF1, TIMP3, TRAF2, MZB1, SESN3, GAL, TNFRSF1B, PWAR1, TRAT1, PLB1, TLN1, HDAC4, ATG13, CD200R1, TAS2R13, BMS1, RMC1, EIF2B3, MCAT, MTIF3, ANKK1, PGP, RAB7B, HCAR2, TRH, TTR, PPP1R1B, IL23A, SYVN1, GPR88, HOMER1, SHC3, VIM, ATAD1, MIDN, SELENOT, ROCK2, SLC25A27, DNER, TPH2, USP1, SCLY, UCHL3, FTMT, OPN4, UBE2L3, TXNRD3, VPS26A, CARD16, TXN, TGM2, TGFB2, IDUA, CHRNA5, HK2, LGALS1, BAG1, PLA2G1B, F9, HLA-C, LBP, E2F1, BAX, CLK1, NCL, HCN2, F2R, NR4A1, FOXA1, NDUFA1, NDUFA2, NDUFS3, PLD2, HK1, HOXD13, TOR1A, COL17A1, COL11A2, PPID, FCGR3A, POU2F1, POMC, POLB, ARSA, ASCL1, LGALS3, HCLS1, PLXNA2, LIFR, FAAH, ATM, ATOX1, NRG1, ATP1A3, BNIP3L, NDUFS4, PDIA3, CBS, P2RY2, IL7, KCNJ6, P2RY1, P2RX5, P2RX4, P2RX1, OPRL1, CCKAR, KDR, GPR143, NUCB2, IL13RA1, ISG20, ITGAM, NTRK2, NT5E, CD19, IL2RB, IL2RA, EGF, PCP4, HRES1, NEFM, CHAT, CTSC, ERG, CEBPB, PDC, NFKB1, EGR1, CAST, HTC2, CACNA1A, NHS, HTR1B, KRT7, IDE, CAPN1, NOS3, COX8A, ELAVL2, FRAXE, CBLIF, RBM3, PSMB8, DDIT3, CD200, DAPK1, CSF3, PSEN2, APOD, PSAP, CYTB, GPX7, APOB, DNMT3B, MFGE8, ADCYAP1R1, FXN, GLB1, PTBP1, GLUL, GRP, FTH1, PTPRC, ALOX5, AKR1B1, MSRA, ADH4, MEF2C, GAD2, AHR, GALC, MS, DPEP1, FOSL2, ND1, ATF2, CYP3A4, DRD5, MIF, ACACA, MTRR, NR3C1, MTR, DPYSL2, MAPK10, DPP4, KLK3, ND5, MRC1, FOXO3, OPN1MW, GC, CD55, ND2, CRY1, SLC39A8, FSD1L, SNX6, CYP27B1, KREMEN1, TNMD, DLGAP3, EHHADH, ANO3, GBA2, CYP3A5, TINAGL1, MAK16, DTNBP1, EIF2B1, NEUROD6, LSM2, ATP13A4, MINDY4, DAPK3, TLCD3B, FKBP10, EIF4E, PROK2, EIF4EBP1, HAPLN2, HAMP, LGR6, ACE2, EIF4A2, LIN28A, APH1B, PAGR1, DOCK3, SLC8B1, ASPSCR1, ELOVL7, FA2H, DHRS11, BRCC3, FSD1, CWC22, DHDDS, XYLT2, DVL1, DUSP8, TNFAIP8L2, MCPH1, PEAK1, NEIL1, RTL10, ATN1, DUSP2, DUSP26, DMPK, DLD, TIMM8A, SLC25A28, TFB2M, MS4A6A, EGFR, MEGF8, HIF3A, RAB1B, CSMD1, DAXX, DBI, DCC, DCN, TAS1R2, ZNF436, PDIA2, EEF2, RAPH1, TNKS2, EEF1A1, FYCO1, REL, USP37, FBXO42, FPR2, WWOX, INPP5K, IL17D, PANK1, FN1, PPIL3, IMMTP1, AFF2, FLNB, H2BS1, FKBP5, TREM1, WNT4, FKBP3, ATG16L1, FKBP2, UGT1A9, FKBP1B, FGG, MARCHF5, FGF13, FGF9, FGF8, NDE1, FGF1, GPC4, FDXR, ANKHD1, FCGR3B, VPS29, TRAPPC2L, NUB1, FKBP7, GDF1, DPP7, PSAT1, UBQLN2, UBQLN1, SLC39A2, OBP2A, VSX1, NOX4, ASAP1, GATA2, SOST, TMED7, ST8SIA3, NMD3, POLR1D, GALNS, TFB1M, B4GALNT1, TRIM17, GABBR1, TRAPPC4, G6PD, GAST, HSD17B7, FRAXA, SIRT7, RAB6B, PPIL1, HEATR3, OXR1, SH3RF1, PELI1, EPRS1, NPDC1, TCIM, PNO1, EPO, PAK6, ARNTL2, ZGPAT, RGMA, EPHX2, CASS4, TIGAR, EPHX1, PGLYRP4, ENDOG, THAP1, ANKRD50, VN1R1, MCOLN1, CYP20A1, NDRG2, PPM1H, ZNF512B, NLN, XPO5, GPR158, NUFIP2, NCEH1, ELF4, ELAVL1, ERBB2, ERBB3, CTNNBL1, ZNF253, MTPAP, FCGR2B, MAP1S, FASN, RCBTB1, ADI1, QRSL1, F12, FBXW7, CHDH, YOD1, TRPV6, GPRC5D, SAGE1, SMPD3, F2RL1, SOX6, AMBRA1, EZH2, MECOM, ARFGAP1, MBD5, VPS11, ESRRG, PSENEN, GPRC5C, ERN1, MYO5C, MYDGF, MAP1LC3A, CRY2, EBPL, GET3, MIR342, MIR335, MIR331, ASIP, MIR324, MIR148B, GPR166P, SPAG11A, VN1R17P, ATP5F1B, ATP7A, ATR, MIR96, MIR34C, PLF, MIR425, FBXO48, MIR410, ARRB1, MIR520D, ARR3, MIR486-1, ARG1, POU5F1P3, ARF3, AR, POU5F1P4, CCDC154, NORAD, LINC00273, AQP9, ADGRB1, MIR320A, MIR30E, MIR19A, MIR107, CA12, CA2, MIR134, C4B, MIR142, MIR144, MIR15B, MIR181A2, C4A, MIR183, C1R, MIR190A, KLF9, BRAF, MIR30C2, DST, BMX, BMP2, BMI1, MIR214, MIR217, BGLAP, CFB, MIR222, BCR, MIR27B, BCL2L1, MIR30A, MIR30C1, CXADRP1, AQP1, MIRLET7D, PGR-AS1, LOC102724334, MIR8061, LOC101928100, ADORA1, UCHL1-AS1, TLE5, APLNR, OCM, ERVW-4, MIR4639, ALAD, MICOS10-NBL1, AMFR, BIN1, CBSL, HAGLROS, TP53COR1, APOA1-AS, SNHG14, ADAM10, ADA, ACO2, SIRT1-AS, BUB1B-PAK6, ACO1, ASIC2, LOC110366354, LOC110806262, AOC1, ABCA1, H3P17, MIR3143, ANGPT1, TMED7-TICAM2, PLIN4, MIR545, MIR542, PARK12, MIR561, MIR579, MIR590, MIR599, MIR613, MIR625, MIR626, MIR634, ATXN8, POTEF, APOC3, MIR671, C4B_2, XIAP, VTRNA2-1, MIR543, APC, MUPP, APBB1, ANXA5, ANK2, ANK1, CD24, MIR1224, MFT2, ANGPT2, TIMM23, MIR100, CALB2, SPZ1, KLF6, CCR7, ABCC2, CNGA1, CNTF, GPR139, MTFMT, CPOX, CHI3L1, CRAT, EXOSC6, MRGPRX4, MRGPRX3, RAB3IP, NUS1, GNPDA2, CCR5, GPR151, CCR3, PXDNL, CMA1, SIRPA, STK35, CACUL1, CLN3, CHRNB4, ZFP90, CHRNB3, ZNF569, GLIS1, PDIK1L, FBXO41, PGLYRP3, PGLYRP2, EEF2K, PLXNA4, CYP2C9, USP30, PTPN5, ORAI1, CYP2C19, CYP1B1, PPIL4, DNAJC14, CYLD, CHRFAM7A, CYC1, MCU, IL33, TRIM41, DEPDC7, CRYAB, CXADR, MTDH, CTSZ, CTSK, PRDM6, CTRL, CADPS2, CTNS, CSNK1D, TGS1, NACC1, TRIM9, CSF1R, CSF1, CHIT1, CEL, HSP90AB2P, TMED10P1, CASR, GOLGA6A, CPP, RSPO2, CAV2, RUNX1, PPIL6, SHOC1, FBXW12, ZNF763, LYPD5, CCKBR, CCND3, OR10A4, NANOS3, HSD17B13, PFN3, CASP8, CASP7, SEPTIN14, AMIGO2, HCN1, TICAM2, CASP6, NDUFS7, CALR, CALD1, CALCR, TMEM189, TMEM189-UBE2V1, UOX, CD14, SELENOH, MRGPRX1, ARID2, CDKN1B, CDKN1A, FSIP1, CDK6, CDC42, TMPRSS6, OXER1, CDK1, DDX53, CDA, CD69, RHOV, CD59, CD47, MLKL, GPX6, CDCP2, PRSS55, CD44, CD36, TPCN2, ZUP1, GPRC6A, CD34, IL27, LCLAT1, EBF3, PHYHD1, CD28, GK5, HOOK2, GPR3, USP25, UMOD, VHL, VGF, OPA1, OPRM1, UQCRH, UQCRFS1, UCP1, NPPC, UCN, P2RY6, P4HB, UBTF, UBE3A, UBE2V1, OMP, VIP, VIPR1, VSNL1, WAS, WFS1, NUCB1, WNT5A, NTRK1, NTF4, XK, XRCC1, XRCC3, YWHAG, YWHAH, NPTX2, CNBP, PRDX1, PAH, SERPINE1, TRAF6, PECAM1, TKT, PDR, PDPK1, PDHA1, TM7SF2, PDE1B, PDE7A, PDCD2, PDB1, TPT1, CRISP2, NR2C1, HSP90B1, PCNT, TYROBP, PCMT1, TRPC6, SERPINA5, PAX4, PHLDA2, TST, PAWR, TUBA4A, TUFM, TNFRSF4, REG3A, TXNRD1, TYMS, PAK1, ZSCAN21, NPPB, EIF2S2, MYOC, PEA15, MYL4, EIF3A, HSD17B6, TP63, PSMG1, USO1, NPPA, PRKRA, CASK, NAGLU, PDXK, NBL1, LGR5, MYD88, SNX3, MYCN, MYC, TNFRSF14, FADD, SNAP23, RGS9, MTX1, FGF18, CCN6, TRNL1, ASAP2, MTTP, MTNR1B, FUBP1, EIF2B4, CHST1, DGKD, NUBP1, SLC14A2, MAP3K12, PRDM2, LRP8, TUBA1A, NPM1, NPAS2, NOTCH4, ST8SIA4, NOTCH2, LAP, NKTR, CSRP3, FGF23, SLC7A5, MLRL, CUL1, SYN3, GTPBP6, NFKBIA, AXIN1, NFKB2, FZD4, NFE2L1, NFE2, NEK1, NEFH, NEDD8, NDN, NR0B2, NCK2, SERPINF1, TIMP1, TIAL1, PSMC1, PSMA2, SGK1, SELENOP, SELE, SEL1L, PSMB9, PSMD11, PER1, CCL3, SCN9A, SCN8A, TAS2R38, SCN1A, PTGER2, PSG5, SHH, HTRA1, KLK7, PRSS2, LGMN, PROS1, SLC1A1, PROP1, SLC1A6, SLC2A1, SLC2A4, PROC, PRL, MAP2K7, SLC6A8, SLC6A11, PTGER4, PTH, SATB1, ROCK1, RB1, RAP2B, RAP1B, RAN, RGS2, RGS4, RGS10, RHEB, RAD51B, RING1, RAD51, RAB6A, RNH1, RNY1, RAB3B, SAT1, QDPR, PTX3, RPL32, RPS6, RPS6KB1, PTPRA, RRAS, PTPN6, RTN1, RXRA, S100A9, S100A10, QSOX1, SALL1, SLC6A13, SLC7A1, MAP2K6, DYNLT3, CDKL5, STXBP1, SERPINF2, ABCC8, PLEK, PLG, ADAM17, TACR1, TAF1, PLD1, TAP1, CNTN2, PLAG1, PKD1, PITX2, STAT4, TEF, TMBIM6, TF, PIK3C2B, TFDP2, PIGC, SERPINA1, PHF1, SLC25A3, PHB, PGK1, THAS, THBS1, THOP1, STIM1, PLK1, SLC8A3, PPP3R1, SLC11A1, MAP2K2, PRKCG, SLC19A1, SLC20A2, PRKCD, SLC22A5, PRKAR1B, PRKAR1A, PRKACB, PRKACA, SMPD2, SMS, PPY, PPP4C, STAT1, PPP2R2B, PPP1R1A, PPBP, MED1, POU5F1, SORL1, SOX2, SPN, PODXL, PNMT, SPTBN1, PRRX1, FXYD1, ST13, EIF2B2, ENDOU, GFPT1, SARM1, HLA-A, HLA-B, ACSBG1, HLA-DQB1, KDM6B, CUL9, SMG1, GSR, TNIK, FAIM2, HLF, HNF4A, HNRNPA1, SEPHS1, SATB2, NEDD4L, HEXA, ZNF629, NCSTN, HDAC2, DICER1, SIRT5, HDAC1, HCRTR1, TPSD1, HAS2, ATP1B4, HSD17B10, ABCA5, TRAM1, GTF2H4, TLX2, RPH3A, HPD, RER1, MRPS30, JTB, PNPLA6, SUGT1, PAPOLA, RALBP1, PRDX3, IKBKB, IGHG3, COPS5, IMMT, RAB35, IFNAR1, STMN2, HTR6, DLGAP4, SLC2A6, PTGDR2, HSPB2, HSPB1, COPE, ECD, FKBP9, HSPA1L, PDAP1, TUSC2, GABARAP, HSPA1B, GABARAPL2, RRAS2, ZFYVE26, SEC14L2, MBD2, PDE7B, GLI1, RBMS3, SIT1, GLI2, GPR78, AGO2, CACYBP, LPAR3, CACNG5, B3GAT1, GLS, GLUD1, GNAL, ACAD8, TOX3, GJB2, GJB1, MAT2B, TOR2A, GHSR, GIT1, ACAD9, FLVCR1, MCTS1, DBNL, HIPK2, GHR, SETD2, SCG3, PYCARD, TBK1, ATP2C1, GNAQ, SEC22A, ARIH1, GSPT1, PDSS1, OPN3, MKRN2, GRM8, GRM3, LDOC1, PPP1R15A, SLC7A11, PPIL2, MAFF, GRIN2C, ATXN10, NOCT, TPSG1, CHORDC1, PRDX5, BACE2, PART1, GRIN1, GRIK3, GORASP2, FFAR1, GPER1, MCHR1, GPR17, UTS2R, FBXO2, FBXO9, GPR6, IL9, PPP1R13L, IL13, MICD, MAP3K3, RAB8A, PTGES, MGMT, TMEM59, NPEPPS, TBX4, PPP1R17, MAPK8IP1, MIP, MAP3K11, SH3BP5, KMT2A, AFF1, DNAJB9, ISG15, MCL1, HERPUD1, MBP, SART3, HDAC9, SETD1A, CLSTN3, PHACTR2, MATN3, MAS1, MARK1, PIEZO1, MAP6, MAP1B, CD180, AFDN, NR3C2, MME, MSX1, MTHFD1, NUDT1, USP13, MT3, HSPB3, PGLYRP1, MT2A, SOCS3, MT1E, ERDA1, MT1B, MT1A, PIAS2, USP10, AIFM1, COX5A, OSMR, SLC16A7, SLC33A1, VAPB, MOG, MMP8, GPR37L1, MMP7, MMP2, TAOK2, MMP1, LONP1, KL, ADIPOQ, LTF, LTA, LRPAP1, NXF1, SPRY1, STUB1, DNAJA2, KLC1, DLEU1, KNG1, CCL26, KLK2, NPM3, NDRG1, SPAG11B, UBAC1, KIF2A, KCNMA1, CIB1, CALCOCO2, PROCR, KCNA5, ARFGEF1, NPC2, SCGN, JUP, TRIM3, ITPR3, YKT6, ITPR1, ITGB2, PTGES3, GJB6, CPLX1, KRT10, STX6, HEPH, LPA, PSMD6, SV2B, SRGAP3, RBM19, NCAPD2, SEC16A, LRP6, LRP1, USP3, MVP, NR1I3, SRA1, LPO, BCL2L11, ABCB6, EIF1, LIG4, PTPRU, PQBP1, LIF, TRIM10, LCN1, G3BP1, RPSA, WASF2, LAMB2, LAD1, L1CAM, KRT31, TRIM13, H3P42
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Vitamin B12 Deficiency
Wikipedia
B 12 deficiency is more common in the elderly because gastric intrinsic factor, necessary for absorption of the vitamin, is deficient, due to atrophic gastritis. [28] Impaired absorption of vitamin B 12 in the setting of a more generalized malabsorption or maldigestion syndrome. This includes any form due to structural damage or wide surgical resection of the terminal ileum (the principal site of vitamin B 12 absorption). ... This process does not affect absorption of small amounts of B 12 in supplements such as multivitamins, since it is not bound to proteins, as is the B 12 in foods. [28] Surgical removal of the small bowel (for example in Crohn's disease ) such that the patient presents with short bowel syndrome and is unable to absorb vitamin B 12 . ... "Gastric Antral Vascular Ectasia (GAVE) Syndrome" (PDF) . Journal of the Association of Physicians of India . 52 : 757. ... PMID 24195595 . S2CID 11093737 . ^ "Blind loop syndrome - Diagnosis and treatment - Mayo Clinic" . www.mayoclinic.org . ... External links [ edit ] Classification D ICD - 10 : E53.8 ICD - 9-CM : 266.2 MeSH : D014806 DiseasesDB : 13905 External resources MedlinePlus : 000574 Patient UK : Vitamin B12 deficiency https://www.webmd.com/a-to-z-guides/vitamin-b12-deficiency-anemia-topic-overview WebMD overview Vitamin B 12 and Folate at Lab Tests Online v t e Malnutrition Protein-energy malnutrition Kwashiorkor Marasmus Catabolysis Vitamin deficiency B vitamins B 1 Beriberi Wernicke–Korsakoff syndrome Wernicke's encephalopathy Korsakoff's syndrome B 2 Riboflavin deficiency B 3 Pellagra B 6 Pyridoxine deficiency B 7 Biotin deficiency B 9 Folate deficiency B 12 Vitamin B 12 deficiency Other A: Vitamin A deficiency Bitot's spots C: Scurvy D: Vitamin D deficiency Rickets Osteomalacia Harrison's groove E: Vitamin E deficiency K: Vitamin K deficiency Mineral deficiency Sodium Potassium Magnesium Calcium Iron Zinc Manganese Copper Iodine Chromium Molybdenum Selenium Keshan disease Growth Delayed milestone Failure to thrive Short stature Idiopathic General Anorexia Weight loss Cachexia Underweight
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Vertigo
Wikipedia
While this classification appears in textbooks, it is unclear what relation it has to the pathophysiology or treatment of vertigo. [14] Peripheral [ edit ] Vertigo that is caused by problems with the inner ear or vestibular system , which is composed of the semicircular canals , the vestibule ( utricle and saccule ), and the vestibular nerve is called "peripheral", "otologic", or "vestibular" vertigo. [15] [16] The most common cause is benign paroxysmal positional vertigo ( BPPV ), which accounts for 32% of all peripheral vertigo. [16] Other causes include Ménière's disease (12%), superior canal dehiscence syndrome , labyrinthitis , and visual vertigo. [16] [17] Any cause of inflammation such as common cold , influenza , and bacterial infections may cause transient vertigo if it involves the inner ear, as may chemical insults (e.g., aminoglycosides ) [18] or physical trauma (e.g., skull fractures). ... The balance disorder associated with central lesions causing vertigo is often so severe that many people are unable to stand or walk. [16] A number of conditions that involve the central nervous system may lead to vertigo including: lesions caused by infarctions or hemorrhage , tumors present in the cerebellopontine angle such as a vestibular schwannoma or cerebellar tumors, [9] [11] epilepsy , [21] cervical spine disorders such as cervical spondylosis , [11] degenerative ataxia disorders, [9] migraine headaches , [9] lateral medullary syndrome , Chiari malformation , [9] multiple sclerosis , [9] parkinsonism , as well as cerebral dysfunction. [16] Central vertigo may not improve or may do so more slowly than vertigo caused by disturbance to peripheral structures. [16] Alcohol can result in positional alcohol nystagmus (PAN). ... Dopamine, histamine, serotonin , and acetylcholine are neurotransmitters thought to produce vomiting. [9] It is known that centrally acting antihistamines modulate the symptoms of acute symptomatic vertigo. [29] Diagnosis [ edit ] Tests for vertigo often attempt to elicit nystagmus and to differentiate vertigo from other causes of dizziness such as presyncope , hyperventilation syndrome , disequilibrium , or psychiatric causes of lightheadedness. [1] Tests of vestibular system (balance) function include electronystagmography (ENG), [1] Dix-Hallpike maneuver, [1] rotation tests, head-thrust test, [9] caloric reflex test , [9] [30] and computerized dynamic posturography (CDP). [31] The HINTS test, which is a combination of three physical examination tests that may be performed by physicians at the bedside, has been deemed helpful in differentiating between central and peripheral causes of vertigo. [32] The HINTS test involves the horizontal head impulse test, observation of nystagmus on primary gaze, and the test of skew. [33] CT scans or MRIs are sometimes used by physicians when diagnosing vertigo. [21] Tests of auditory system (hearing) function include pure tone audiometry , speech audiometry, acoustic reflex , electrocochleography (ECoG), otoacoustic emissions (OAE), and the auditory brainstem response test . [31] A number of specific conditions can cause vertigo. ... A systematic review of bedside diagnosis in acute vestibular syndrome" . Canadian Medical Association Journal . 183 (9): E571–E592. doi : 10.1503/cmaj.100174 . ... Medicine portal v t e Disorders of hearing and balance Hearing Symptoms Hearing loss Excessive response Tinnitus Hyperacusis Phonophobia Disease Loss Conductive hearing loss Otosclerosis Superior canal dehiscence Sensorineural hearing loss Presbycusis Cortical deafness Nonsyndromic deafness Other Deafblindness Wolfram syndrome Usher syndrome Auditory processing disorder Spatial hearing loss Tests Hearing test Rinne test Tone decay test Weber test Audiometry pure tone visual reinforcement Balance Symptoms Vertigo nystagmus Disease Balance disorder Peripheral Ménière's disease Benign paroxysmal positional vertigo Labyrinthitis Labyrinthine fistula Tests Dix–Hallpike test Unterberger test Romberg's test Vestibulo–ocular reflex v t e Diseases of the outer and middle ear Outer ear Otitis externa Otomycosis Middle ear and mastoid Otitis media Mastoiditis Bezold's abscess Gradenigo's syndrome Tympanosclerosis Cholesteatoma Perforated eardrum Symptoms Ear pain Hearing loss Tests Otoscope pneumatic tympanometryCACNA1A, COCH, SLC26A4, STRC, SCN5A, PRKAR1A, RARA, RYR2, SCN1B, SCN2A, NAGA, SLC1A3, SLC12A3, SPG7, STAT3, STAT4, STAT5B, PML, NUMA1, PDGFB, TLR4, NPM1, NF2, MYO7A, MYL2, MYD88, MVK, MPL, MEN1, MEFV, KCNJ10, KCNA1, JUP, JAK2, THPO, TNFRSF1A, IL10, VHL, IRF2BP2, UBAC2, TECRL, IL23R, TUBB6, FIP1L1, TBL1XR1, FKRP, NABP1, CDH23, BCOR, CNNM2, TRPM4, TET2, ADA2, ERAP1, STRN4, TPK1, PTPN22, DKK1, AFG3L2, NOP56, TRDN, SH2B3, TMEM94, AIP, CACNA1G, KLRC4, ZBTB16, IL12A, IL12A-AS1, CALM1, DBH, CACNB4, C4A, FLI1, GATA2, BRAF, EPOR, GCDH, CCND1, B2M, CASQ2, ATP1A2, CTNNB1, NKX2-5, FAS, FOXI1, EGF, GLA, SLC25A4, COL3A1, CALM2, GYG1, CCR1, HFE, CLCNKB, HLA-B, CLCN1, CALM3, CKMT1B, S100B, CYP2D6, ABCB1, CHRNA4, CCT, CHRNA3, CHRNA7, CHRNB2, CHRNB3, ASIC3, LGI1, TES, IL1B, CASP9, PRIMA1, ZGLP1, GRXCR1, ADCY5, ADRA1A, COPD, ADRB1, ADRB2, APOE, CCHCR1, SPRTN, PANK2, EHMT1, AVP, HRH4, SPAG9, CAD, CHRNB4, CRY1, SELENBP1, OPRM1, NT5E, NPPA, GCG, NPY, GFAP, ACR, GFER, GJA1, GJB2, GLP1R, MME, GRM5, KCNJ13, HINT1, IFNA1, ITGB3, IFNA13, NTRK1, PAEP, CHRNA6, PFN2, PER2, TPM3, COMT, IGF1, TAC1, CUX1, SRY, CYP3A5, SHBG, SGSH, CCL2, DPP4, DSPP, S100A1, ERF, FES, PGR, ACHE
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West Nile Fever
Wikipedia
Medical conditions such as cancer and diabetes , and age over 60 years, increase the risk of developing severe symptoms. [6] [7] Headache can be a prominent symptom of WNV fever, meningitis, encephalitis, meningoencephalitis, and it may or may not be present in poliomyelitis-like syndrome. Thus, headache is not a useful indicator of neuroinvasive disease. West Nile fever (WNF), which occurs in 20 percent of cases, is a febrile syndrome that causes flu-like symptoms . [8] Most characterizations of WNF describe it as a mild, acute syndrome lasting 3 to 6 days after symptom onset. ... West Nile neuroinvasive disease (WNND), which occurs in less than 1 percent of cases, is when the virus infects the central nervous system resulting in meningitis , encephalitis , meningoencephalitis or a poliomyelitis -like syndrome. [9] Many patients with WNND have normal neuroimaging studies, although abnormalities may be present in various cerebral areas including the basal ganglia , thalamus , cerebellum , and brainstem . [9] West Nile virus encephalitis (WNE) is the most common neuroinvasive manifestation of WNND. ... West Nile poliomyelitis (WNP), an acute flaccid paralysis syndrome associated with WNV infection, is less common than WNM or WNE. This syndrome is generally characterized by the acute onset of asymmetric limb weakness or paralysis in the absence of sensory loss.CCR5, ERVK-32, ROBO3, MAVS, DDX58, PLAAT4, IFIT2, ERVK-6, STAT1, SPP1, OAS1, IL1B, IFNB1, RNASEL, CASP8, HLA-DRB1, PELI1, SELENBP1, ARHGEF2, LRRFIP1, NAMPT, TRAIP, RIPK3, SEC14L2, CSF1R, LAMP3, ERVW-1, FOXP3, ZMYND10, DDX56, CCR7, VCP, CDKN2A, IFIH1, DHX58, ZBP1, HAVCR2, PIK3IP1, NLRP3, TNFRSF13C, TRIM6, RBM45, CCR2, ERVK-20, ERVK-18, VAMP8, TNFRSF1A, IFNA1, TNF, IFNA13, HLA-DQA1, IL1A, HLA-C, IL10, IL17A, IL18, IRF3, IRF5, KIR2DL2, KIR3DL1, KIR3DS1, LSAMP, CD180, SMAD4, MMP9, HLA-A, PIK3CA, PIK3CB, PIK3CD, PIK3CG, PZP, GLS, CASP1, SNCA, GEM, DDX3X, TAP1, TLR3, ATF4
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Leukemia
Wikipedia
Causes Inherited and environmental factors [5] Risk factors Smoking , family history, ionizing radiation , some chemicals, prior chemotherapy, Down syndrome . [3] [5] Diagnostic method Blood tests , bone marrow biopsy [2] Treatment Chemotherapy , radiation therapy , targeted therapy , bone marrow transplant , supportive care [3] Prognosis Five-year survival rate 57% (USA) [4] Frequency 2.3 million (2015) [6] Deaths 353,500 (2015) [7] Leukemia , also spelled leukaemia , is a group of blood cancers that usually begin in the bone marrow and result in high numbers of abnormal blood cells . [8] These blood cells are not fully developed and are called blasts or leukemia cells . [2] Symptoms may include bleeding and bruising , fatigue , fever , and an increased risk of infections. [2] These symptoms occur due to a lack of normal blood cells . [2] Diagnosis is typically made by blood tests or bone marrow biopsy . [2] The exact cause of leukemia is unknown. [5] A combination of genetic factors and environmental (non-inherited) factors are believed to play a role. [5] Risk factors include smoking , ionizing radiation , some chemicals (such as benzene ), prior chemotherapy, and Down syndrome . [5] [3] People with a family history of leukemia are also at higher risk. [3] There are four main types of leukemia— acute lymphoblastic leukemia (ALL), acute myeloid leukemia (AML), chronic lymphocytic leukemia (CLL) and chronic myeloid leukemia (CML)—as well as a number of less common types. [3] [9] Leukemias and lymphomas both belong to a broader group of tumors that affect the blood, bone marrow, and lymphoid system , known as tumors of the hematopoietic and lymphoid tissues . [10] [11] Treatment may involve some combination of chemotherapy , radiation therapy , targeted therapy , and bone marrow transplant , in addition to supportive care and palliative care as needed. [3] Certain types of leukemia may be managed with watchful waiting . [3] The success of treatment depends on the type of leukemia and the age of the person. ... Clonal eosinophilias involve a "clone" of eosinophils, i.e., a group of genetically identical eosinophils that all grew from the same mutated ancestor cell. [24] These disorders may evolve into chronic eosinophilic leukemia or may be associated with various forms of myeloid neoplasms, lymphoid neoplasms, myelofibrosis , or the myelodysplastic syndrome . [25] [26] [24] Pre-leukemia [ edit ] Transient myeloproliferative disease , also termed transient leukemia, involves the abnormal proliferation of a clone of non-cancerous megakaryoblasts . The disease is restricted to individuals with Down syndrome or genetic changes similar to those in Down syndrome, develops in a baby during pregnancy or shortly after birth, and resolves within 3 months or, in ~10% of cases, progresses to acute megakaryoblastic leukemia . ... "Transient Abnormal Myelopoiesis and AML in Down Syndrome: an Update" . Current Hematologic Malignancy Reports . 11 (5): 333–41. doi : 10.1007/s11899-016-0338-x . ... "Acute leukemias in children with Down syndrome". Molecular Genetics and Metabolism . 107 (1–2): 25–30. doi : 10.1016/j.ymgme.2012.07.011 .ATM, FANCD2, FANCC, BLM, FANCA, FANCG, FANCE, FANCF, NRAS, BRIP1, BRAF, ERG, TNFSF10, PTEN, STAT3, PTPN11, CDKN2A, PRAME, JAK2, KMT2A, WT1, GSTM1, CSF3R, MSH6, IL2, CCND1, SETD2, ESR1, TOP2A, LIG4, PLK1, HP, NF1, CFLAR, FOXM1, MGMT, KMT2E, PRF1, DDIT4, AR, BIRC2, FGF1, SMPD3, STAG2, BAD, PPP1R13L, LINC00977, PRKCZ, AQP9, GSTO1, NCOA3, BIRC3, SPHK1, SYNCRIP, BAP1, CREBBP, KRAS, MLH1, PIK3CA, BRD4, GATA2, TERT, MSH2, EP300, RB1, MYD88, CFTR, NUTM1, HAX1, KDM1A, CASR, RAF1, CD6, CBFB, FLT3, GEM, CXADRP1, STAT5A, STAT5B, PRMT5, TBC1D9, RUNX1, RUNX1T1, LONP1, MTOR, GATA1, RARA, NOTCH1, MECOM, FANCB, CTRC, SNAP91, ATN1, NR1I3, DNMT3A, CDKN1A, CDKN1B, DNMT1, CDKN2B, NQO1, IKZF1, MIR155, SCN11A, CXADR, CEBPA, CTNNB1, CEBPZ, CSF3, CSF2, SCN10A, SCN9A, CD19, TET2, MS4A1, CD22, EZH2, TCL1B, EVPL, CD33, CD34, ETV6, CD38, KRT20, VEGFA, CD40LG, CD44, ETS1, SPINK1, SPG7, EPO, EIF4E, CASP3, PRSS1, HIF1A, KIR3DL1, MEIS1, MDM2, ANPEP, MCL1, MLLT10, ABCB1, ASRGL1, APC, KAT6A, PIK3CB, LMO2, PIM1, PIK3CD, PIK3CG, HRX, POT1, KIF11, TERC, HLA-A, MEN1, PBX1, PAX5, PICALM, ABL1, NPM1, TNF, NUP98, NCAM1, MYH11, MYC, MYB, MTTP, TP53, PARP1, MTHFR, TCL1A, ABCC1, AKT1, MPO, MME, MLLT1, KIT, ARR3, CCR7, MAPK1, BCR, PRKAR1A, BMI1, DOT1L, TCF3, ALL1, TAL1, TMEM132D, MBD2, TLX1, BRCA2, HOXA@, TRIM13, CCNA1, HOXA10, BUB1B, IDH1, CALM1, CALM2, IDH2, PML, COMMD3-BMI1, PMS2, IL15, CXCR4, IL6, IL3, HOXA9, TRBV20OR9-2, IGH, BCL2, CALM3, IFNA13, IFNA1, NFE2L2, HLA-B, KDR, DNER, MAPK8, MLLT3, CXCL12, FHIT, ASPG, KLRK1, IFNG, IL1B, PROM1, ERVW-1, SPI1, OPN1SW, CD274, KLRC4-KLRK1, H3P10, CDK2, BTK, BRCA1, BAX, FUT4, FAS, FGFR1, PRAM1, MAPK14, MPL, MDM4, CBFA2T3, IRF8, CYP1A1, ELANE, NUP214, MIR21, ABO, GSTT1, JAK3, PTPA, DEK, RAC1, HPGDS, PRDM16, HLA-DPB1, TRIB2, ZBTB16, G6PD, PBX3, BCL11A, SCLY, PCBP4, PAG1, XIAP, TRIM5, HLA-C, IL2RA, SUB1, DHFR, WLS, LEP, AFF1, LIF, ABCG2, HSP90AA1, ZAP70, MAP2K7, NXT1, MRPL28, NBN, KRT7, IL10, SOAT1, FN1, H3P9, TOP1, ERVK-20, HDAC9, XRCC1, MARCKSL1, TPMT, IL7, FLI1, OPN1LW, EWSR1, SRC, IRF1, NCOA2, SCT, GFI1, CDK4, RAG2, RUNX2, HLF, PRTN3, CD80, IL2RG, CD14, S100A4, IL7R, AHI1, GSTK1, FASLG, APRT, MIR150, AFDN, BCL6, NME1, CCR5, NM, NFKB1, SLCO6A1, MAPK3, MIR17HG, MAP2K1, TLX3, MSH3, FLT1, FLII, PPARG, TGFB1, CD47, CIB1, LEF1, CDK6, MSI2, CNTNAP1, DNMT3B, LMO1, MNX1, APEX1, TET1, PDGFRA, SALL4, CD27, HPRT1, GABPA, HRAS, ASXL1, ZNF384, IL24, FLT3LG, IGF1, ICAM1, F2R, FGF2, DLL1, FUT1, AHSA1, RNASE3, HMGB1, GLIS2, PSIP1, POLDIP2, DCC, NR0B2, FBXW7, MFAP1, CD99, RTEL1, NR3C1, ALDH1A1, MIR22, FTO, SLC9A1, MMP9, PTPN6, THY1, MIR29B1, MIR29B2, PTPRC, SEPTIN9, GSTP1, CRK, MIR196B, CREB1, ROR1, CRLF2, PIM3, ABL2, SET, PECAM1, AIMP2, EGFR, ITGAM, HMOX1, EPOR, PHF6, EPHB2, SLC12A9, TP73, ASNS, CDK1, RNF19A, CALR, SAI1, MERTK, GRAP2, ZNF521, DOK1, MIR126, PDIK1L, LGALS3, EBF1, HLA-G, TAT, TRIB1, SIRT1, BUB1, TAC1, PSMB6, HOXA5, ADAM17, YY1, HFE, HOTAIR, HEMGN, TPPP2, JAK1, HTC2, ANXA2, MAFK, FIP1L1, H3P12, ERVK-18, BIRC5, APAF1, ABCB4, LYZ, PDGFRB, MEF2C, LBR, MLF1, MMP2, CD200, ERVK-32, MUC1, ACTB, CDR3, ACHE, TLR4, SOCS1, STMN1, BMP4, IL4, TSLP, IFI27, PDLIM5, BCL2A1, BCHE, INPP4B, IL1A, POU5F1, IL3RA, IL6ST, LETMD1, CXCL8, AXL, IL18, ILK, ATR, IRF4, ITGB2, QRSL1, IGF2BP1, ARHGEF1, CHEK2, CD40, DDX41, CBL, ZEB2, EGR1, WWOX, RUNX3, LRPPRC, CDKN2C, GLB1, MIR223, ZHX2, S100A8, CDA, RAG1, DCDC2, CDX2, ATXN1, TYMS, NAT2, EEF1E1, TYR, MACROD1, REN, RARG, SRSF2, MVP, DAXX, ATRAID, LAMTOR1, AURKA, MIR16-1, VAV1, CFL1, FCER2, F3, GRB2, WDR5, POU5F1P3, PDCD5, POU5F1P4, SYK, UBE2I, COL11A2, VDR, GSK3B, CRKL, ZNF197, CRYZ, SH2B3, PTK2B, CSF1R, RAC2, GPT, RAD51, APP, CCL2, DPY30, KMT2B, CCL3, EPS15, TCHP, KCNH2, LMNA, CDKN1C, SBDS, COL18A1, ABI1, SELL, AKR1C3, LINC01194, GYPE, E2F1, KLK3, TEK, CD79A, RERE, TNFSF13, POGLUT1, PIN1, TICAM2, ERCC2, ITGB3, CIAPIN1, SP100, ARHGAP24, EPHA3, GYPB, RALBP1, KMT2C, NAMPT, EBI3, TAF15, SOD1, CES1, OSM, SLC22A1, GORASP1, H3P23, MYCN, UGCG, SMARCA1, HMGA2, NCL, DCLRE1C, ELL, SMARCA4, COX8A, ERVK-6, NTRK1, NGFR, GDE1, CHEK1, PRG4, AHR, TNFSF13B, TLR9, FOXP3, NR4A3, SMAD4, DECR1, GADD45A, SETBP1, ACE, DCK, SPP1, TMED7, SLC52A2, PCNA, AICDA, CCN2, TFRC, THBS1, CYBB, DCTN6, ALK, AKR1B1, CTSG, KMT2D, THPO, MOS, WNK1, KDM6A, FGFR3, REG1A, BCL2L1, TMED7-TICAM2, CDKN2B-AS1, KLF4, WT1-AS, FPGS, SOCS3, NR4A1, ATG5, FLT4, HMMR, RGPD2, SF3B1, FOXO3, ID1, HOXB3, RELA, TCF7, JMJD1C, NOTCH3, CCNA2, DLEU2, HSPA5, GATA3, HOXB4, WNT5A, BCL10, CNTN2, BSG, EIF2AK2, ZNRD2, TCF4, PIM2, HSF1, NLRP2, HOXD13, KAT2A, AGFG2, PSMD9, HES1, NR1I2, XRCC3, FDXR, CLEC12A, GYPA, PVT1, CD28, B2M, EMB, OSCP1, HDAC1, NT5C2, PTPN2, SYT1, CD9, IL18R1, HIC1, ASH2L, DICER1, CD5, ROCK1, NUDT15, AURKB, GZMB, H4-16, AFF4, FCGR3B, PWAR1, RBPJ, FCGR3A, TNFRSF10B, ROS1, SON, SIRT6, PRKN, PSMA7, HSP90B2P, MRTFA, CD244, PAK3, SNAP25, IL23A, TWIST1, SMPD2, BACH2, A1CF, XIST, PTPRO, ABCC8, XPO1, RAD52, POLD4, PTK7, ZBTB7A, ODC1, PTGS2, TSG101, KLF10, CIP2A, PAEP, RANGAP1, PAFAH1B1, NECTIN2, TLR2, RAP1GAP, PVR, TIMP2, PTPN4, USP7, ATF7IP, PAX3, TRD, TRDD3, S100B, DDX4, PKM, TRBC1, TERF1, ACKR3, S100A9, TRDC, PRDM2, RNF6, SRPK2, SRPK1, PLAGL2, PLAT, TRDJ1, SRI, B3GAT1, TPM3, RXRA, PLAU, RPS19, LEPQTL1, EXOSC5, DLL4, SPIB, METTL3, POLE4, POLD1, ST8SIA4, PIP4K2A, BCOR, STIL, PF4, TGFBI, HIPK2, KDM3B, SH3GL1, PDC, ENOSF1, THUMPD1, IGHV1-12, PDCD1, PDGFB, U2AF1, SPN, WEE1, HNF1A, MAPK7, RET, SELP, PHB, NSD3, TF, TFPI2, SELE, VCAM1, KDM5A, ZFP36, SOX4, TYRO3, SDC1, ETV7, STAT1, TEAD1, KDM5B, GNL3, CSF1, HERPUD1, ABCB5, SETD1A, SLC29A1, ENG, EMD, EIF4A2, EIF4A1, EGR3, ANKRD26, LIN28B, TELO2, DUSP1, MIR125A, DNTT, DNASE1, MIR143, MIR15A, DAPK1, MIR183, MIR193A, CYP3A5, MIR203A, CYP2D6, CYP2B6, CYP1B1, CUX1, CTSB, MIR221, ESPL1, PLA2R1, DKK1, SEPTIN6, HGF, HDC, HDAC2, CCNE2, H2AX, GSN, GRIA3, GPX3, XPR1, PLB1, BTLA, CREBRF, GH1, ADIPOQ, F9, RECQL4, GPR180, NR5A2, KDM6B, NCR1, NOS2, FOXC1, KDM4C, FH, FGF4, FES, BCAR1, ASPM, CTNNA1, MIR34A, HMBS, MIR34B, CASP9, CASP8, CASP2, MAGED4, CALCA, C3, BTG1, BST2, DUX4, ARL6IP5, BCL3, BCAT1, ATRX, RAB40B, ASPA, ASIP, ABCC6, AQP8, ANG, ALPP, ALPI, ALOX5, ALB, EBP, ADAR, H3P13, ACP3, H3P5, ACACA, CAV1, MIR638, CCNB1, CDC42, CNTF, CCR6, OLIG2, GPHN, ABCC4, CEBPB, MIR375, CD52, CDKN2D, CDK9, DLEU1, H4C15, CDH1, CD70, CCNE1, MIR486-1, CD59, CD48, BCRP3, CD36, TNFRSF8, CD8B, CD8A, SCFV, CD3G, CD1D, CD1C, CD1A, GPRC5A, FOS, HSPB1, ABCC11, ISG20, INPP5D, KDM2B, MEF2D, MEIS2, CXCL10, IL17A, ZNF268, H4C5, TNFRSF9, H4C2, IL11, H4C8, TNFRSF10A, HAVCR2, IL5, IL1RN, H4C3, IL1R1, NUDCD1, ZC3H12A, SH3BP4, NRP1, H4C11, H4C12, ITGA2B, MECP2, H4C13, RPSA, LTA, GAS7, ULBP2, SMAD2, SAMHD1, MAGED4B, LIFR, LGALS1, LEPR, LDLR, LCK, BECN1, CD46, LAIR1, ABCC3, BAALC, RIPK1, MAGEA1, ROPN1L, MAGT1, TNFSF9, HMGA1, H4C14, ITGAL, SOCS2, IGFBP7, IFNAR1, NOD2, RBM15, IER3, HOXC5, HOXC4, HOXB7, MYOD1, ATG3, H4C9, HOXB@, CLDN5, HOXA11, HOXA7, HOXA4, HSPB3, NGF, HOXA1, CHAF1B, NOS1, MTRR, HOXC6, HTN3, GFI1B, H4C6, MRC1, IAPP, H4C4, H4C1, LYL1, HSPB2, LATS2, SERINC3, TRPM5, RUVBL2, ESM1, TFPT, HPSE, CCR9, COPS5, MYCBP, CHIC2, MTHFD2, NUDT21, HSPB8, SENP1, ZNF451, PHGDH, CHD5, ABHD2, MLLT11, EHMT2, CNTRL, APOBEC2, RIPK3, TES, PSAT1, BLNK, UHRF1, PAPOLA, FBXO9, TPPP, ADRM1, MRPS30, EPC2, RNU1-1, CKAP2, MAPRE2, TMED2, HEY1, L3MBTL1, MKRN2, RBFOX2, PHF8, LPAR3, PADI4, ZNF423, TRIM35, MYCBP2, SGSM3, SSBP2, NUP62, SETD1B, SETX, DESI1, CEP152, FAM168A, IGHV3-69-1, TRIM32, IGHV3OR16-7, CBX7, TNFRSF13B, KCNH3, FRAT2, POLM, ARHGEF12, SMCHD1, MLC1, SYNE1, FBXW11, KAT6B, WWC1, COBL, TNPO3, APOBEC3C, TRBV16, KAT7, QPCT, LAMP5, ZC3H7A, SIGLEC7, NOX1, DNAJC2, TFIP11, DROSHA, SNF8, PACSIN2, AKAP13, PYCARD, WIF1, IBTK, CORO1A, RGCC, FLVCR1, TRBV7-9, HSPA4L, SIRT2, SMPX, SIGLEC9, SACM1L, INVS, CILK1, LAT, PARK7, IKZF3, TUSC2, PDAP1, SGK3, PHB2, ECD, CHP1, NAT1, KCNIP3, SPINK6, SERINC5, ZBTB38, IL27, GPRC6A, APOBEC3A, CRTC2, ARID2, CLEC4C, DDX53, RASSF6, OXER1, LEXM, ZNF296, SPRED1, SLC5A8, SLC35G1, NKX2-3, NCR3, MRGPRX1, COPD, GOLGA6A, SERP2, MALAT1, GJB7, PWAR4, ARSH, CXorf66, C16orf96, STING1, CSNK2A3, CLEC4D, P2RY8, FRYL, VSTM1, PGP, HECTD4, NEAT1, CBLL2, VPS13B, ESCO2, MIR155HG, MRGPRX3, ARAP1, MRGPRF, CMTM5, LRRC3B, UHRF2, CGAS, DTX2, TWIST2, SLC46A1, IL17F, PRRT2, ZNF300, SLFN11, ESAM, LRSAM1, MRGPRX4, LRRK2, NKAIN2, BRI3BP, MARVELD2, PPM1K, PAQR3, LYPD4, APCDD1, A2ML1, NRSN1, GATA5, B4GALNT2, S100A16, PACRG, GPR151, CD200R1, RBM45, UHMK1, XRCC6P3, LOC390714, MIR107, ZNRD1, MIR10A, ERVK-2, BCL2L2-PABPN1, DEL11P13, TMX2-CTNND1, MICA, OCLN, HOTAIRM1, LINC01672, CD24, VIM2P, BMI1P1, CEMP1, CCR2, SPANXB1, POTEF, ANXA8L1, SSX2B, MIR4739, ERVK-12, ERVK-22, LOC102724971, H3P19, H3P47, LINC02605, LOC110806263, LOC105379528, LUNAR1, BGLT3, U2AF1L5, PARTICL, CBSL, LOC102724334, GATD3B, LOC102723407, LINC01152, AK6, ERVK-11, MIR663A, MIR600, MIR563, MIR146A, MIR29A, MIR27A, MIR23A, MIR222, MIR182, MIR17, MIR149, MIR144, MIR93, MIR142, MIR130A, MIR128-2, MIR128-1, MIR127, MIR125B2, MIR122, MIR29C, MIR98, ANXA8, MIR378A, UCA1, LINC00273, RASSF10, MIR495, MIR146B, MIR511, MIR449A, RBMXL1, EIF2AK4, TARP, MIR345, MIR331, GPR166P, ZFAS1, VN1R17P, NRARP, MLIP, GADD45GIP1, SLC25A21, SIGLEC10, DDX43, TRPV6, MEG3, LARP6, PI4K2B, ASXL2, PACC1, TRIM62, RCBTB1, MTPAP, FANCL, TESC, ANKHD1, WBP1L, SWT1, TRPM7, FBLIM1, SOX6, ZFP64, CNDP2, KYAT3, PMEPA1, LXN, ANKS1B, GPR137, RETN, LTB4R2, TRPV5, RNF20, SEPTIN11, MYDGF, WSB2, PBK, ASH1L, BEX1, DHX32, TMEM30A, PDP1, UGT1A1, EGLN1, DCTN4, UBR5, KLRF1, DACT1, TNFRSF12A, GMPR2, TLR7, HERC5, EGFL7, TRPV2, KMT5B, MLXIPL, GAL, ASAP1, MBL3P, IL22, NOX4, WNT16, CHMP5, ROBO4, MAP3K20, WNT4, H2BS1, A4GALT, S1PR5, MBD3, IL17D, ADA2, ATP8A2, NCKIPSD, ARID4B, CMPK1, GINS2, PIAS4, MED15, HDAC7, SIRT7, SMYD2, KNL1, TIGAR, TSGA10, JAM3, DYNLRB2, SOX7, TCF7L1, AMN, CAB39L, DUSP16, ULBP1, FSD1L, TRABD, SCD5, NANOG, UBA5, EHMT1, LIN28A, SUV39H2, CRISPLD2, USP42, VTCN1, ZFYVE19, LMLN, WNT3A, SLC22A16, EAF1, REPS1, UBL7, MIR22HG, ZNF382, KAT8, C19orf48, CBX2, BEX2, NT5C1A, RHOXF2, ZDHHC16, ARID5B, CCDC51, PGBD5, ZNF695, STIM2, LGR6, SIGIRR, ACE2, IL21, PLEKHB1, TRIB3, METTL14, PCDH10, BCORL1, AHRR, SCYL1, VANGL2, MCOLN1, ZMIZ1, RALGAPB, GOPC, NYX, PRDM14, MUL1, INTS3, NOX5, FSD1, TNIP2, PHF23, PVRIG, CENPM, GGCT, RTN4R, MAGEF1, ACD, BCL11B, CDCP1, MARCHF7, SMYD3, NSD1, SLC39A8, CDC73, SP1, NES, HBG2, HOXA6, HOXA3, HNRNPA1, SLC29A2, HNF4A, HMGCR, HMGB3, HMGB2, HLA-DRB3, HLA-DRB1, HLA-DQB1, HK2, HK1, HIP1, HTT, HCL2, HCFC1, HOXA13, HOXB1, HOXB2, HSPA4, IFIT3, ID4, MRPL58, TNC, HTN1, HSP90AB1, HSPA9, HSD11B2, HOXB5, PRMT1, HOXD3, HOXD@, HOXC10, HOXB9, HOXB8, HOXB6, HBZ, HBG1, IGF1R, HBA2, GATA6, GATA4, GAS6, FUT3, FUS, GAST, NR5A1, FRZB, FRA7G, FRA6F, FXN, FPR1, FOLR1, FOLH1, FMOD, FLNC, FOXO1, GCY, GGT1, B4GALT1, GPR42, HBA1, H2AZ1, GTF2H1, GSTA1, GRM3, GRB10, FFAR2, GPER1, GHRH, GPI, GNB2, GNB1, GLS, GLI2, GLI1, GJA1, IFNB1, IGF2, VEGFD, LRP6, RAB8A, ME2, MDK, MCM7, MCM3, MBL2, MATK, MAL, MAGEA3, SMAD7, SMAD5, EPCAM, SH2D1A, LYN, LY9, LTK, LTF, MET, MIF, MIP, COX1, NAIP, MYBL2, MUSK, MTX1, MTR, CYTB, MTCP1, MSX1, NR3C2, MST1R, MSR1, MOV10, MNDA, MNAT1, MMP7, MMP1, LTB, LRP1, IGFBP2, LRMP, JUND, JUN, JARID2, EIF6, ITGB1, IRF2, ITGA6, IRAK1, INS, IL15RA, IL12B, IL9, CXCR1, IL2RB, IGL, IGHM, IGFBP4, CD82, KCNH1, KIR2DL1, LAMP1, LOX, LLGL1, LIMS1, LIG3, LDHA, LCN2, LAMP2, LAMB3, KIR2DS1, LAG3, AFF3, KRT19, KLRC1, KIR3DL2, KIR2DS5, KIR2DS4, FIM3, FHL2, NEDD8, BMX, CBS, CBR1, CASP10, CASP5, CAMP, CAMLG, CAMK4, SLC25A20, DDR1, CA2, FMNL1, VPS51, C5AR1, C4BPA, BRS3, ZFP36L2, BPHL, CCKBR, CCND2, CCND3, CD79B, CEBPE, CDX4, CDR1, CDK8, CDK5, CDH13, CDC34, CD68, CCNG2, CD58, CD37, TNFSF8, CD86, MS4A3, CD247, CD2, BNIP3, BMP6, CHD1, BMP2, AMH, ALOX15, AKT2, AIC, JAG1, ADRA2B, ADRA1A, PARP4, ADD1, ADCYAP1, ADCY7, ADAM10, ADA, ACVRL1, ACTG1, ACP1, ABR, ANGPT2, ANK1, ANXA7, ATP2A3, PRDM1, BDNF, TNFRSF17, BCL2L2, BAK1, BAG1, ATP7A, ATIC, AOX1, ATF4, SERPINC1, ASS1, ARNTL, APOE, APOBEC1, APCS, RCBTB2, AKR1C4, FGFR2, DOCK2, EPAS1, ENO2, MARK2, EIF5A, EIF4EBP1, EGF, EFNB2, EFNB1, PHC1, EDNRB, EDNRA, DVL2, DVL1, DUSP2, TSC22D3, ARID3A, DPYD, EPHA1, EPHX1, ERBB2, F8, FCGRT, FCGR2B, FCGR2A, FCER1A, FAT1, FASN, FABP4, EZH1, ERBB3, EXT1, ETV5, ETS2, ERN1, ERF, ERCC5, ERCC1, DPP4, DNM2, CHGB, DNA2, CTBP2, CSPG4, CSNK2A2, CSNK2A1, CSHL1, CSF2RB, CSE1L, CRP, CRMP1, CR2, CR1, CNR2, LTB4R, CKB, CHRNA4, CHRM3, CHI3L1, CTF1, CTLA4, CTNND1, DES, DMBT1, DLX4, DLX3, DLD, DLAT, DHODH, DFFB, DEFB1, CTSL, DDIT3, DGKA, DAG1, DACH1, CYP24A1, CYP3A4, CYBA, NDN, NEDD9, GIPC1, RNF217-AS1, THOC5, PIAS1, BLZF1, DGKZ, IKBKG, PARG, PPM1D, SMARCA5, FZD9, FZD4, ARID1A, USP9X, GATD3A, TAM, MIA, COIL, ANC, EIF3A, EIF3D, TNK1, ASAP2, NOL3, SLC5A6, FUBP1, SQSTM1, VNN2, PER2, LDB1, ALKBH1, HRK, KSR1, GGH, NRP2, TNFRSF10C, TNFRSF10D, TNFRSF11A, TNFRSF18, RASSF7, LAP, CH25H, CP20, VCP, USP1, UQCRFS1, NR1H2, UNG, UMOD, UGT1A, UFD1, SUMO1, UBE2E2, TYK2, TNFSF4, TTN, TRAF3, TRAF1, TPT1, TP53BP2, VDAC1, VEGFC, VIM, ZFX, PAX8, EVI5, ZYX, ZNF224, ZMYM2, TRIM25, MZF1, YWHAZ, VIP, XRCC4, XPC, WNT7A, NSD2, VWF, VPREB1, VIS1, F2RL3, SPAG9, TNFAIP3, BCL2L11, FST, ARIH2, YAP1, NDC80, KLF2, HMGB1P5, MRVI1, SMYD5, STUB1, ZMPSTE24, MSLN, TNK2, RBM6, TRIM28, TSPAN3, PTPRU, ABCB6, HOXB13, KAT5, ANP32B, KLF1, PLK4, NUDC, NFAT5, USP39, CD226, CTCF, CXCR6, KHDRBS1, GNLY, IGF2BP2, IGF2BP3, POSTN, PDPN, TXNIP, HEXIM1, SH2B2, SMC4, HDAC6, DOK2, SCO2, ADAMTS1, TJP2, LPXN, RAB9A, SLIT2, PDLIM7, UBE2L6, MSC, NOG, PTTG1, DCLK1, IL1RL1, LPAR2, CBFA2T2, INA, FCGR2C, USP10, LITAF, TBPL1, NPEPPS, HDAC4, HNRNPDL, SLC23A2, FCHSD2, SETDB1, GAB2, PCLAF, TOX, SOCS5, BAG3, IKBKE, FEZ1, CLCA2, NCOR2, NCOR1, RIN1, APOBEC3B, TNR, NR2E1, NF2, PLG, PRKAA2, PRKAA1, PPP5C, PPP2R5C, PPIB, PPBP, PPARA, POU4F1, POU3F1, POU2F1, PON2, PON1, POMC, SEPTIN5, PRRX1, PMAIP1, PLN, PRKAB1, PRKCA, PRKCB, PTAFR, PTPRA, PTPN13, PTPN1, PTN, PTGS1, PTGER4, PTCH1, PSEN1, PRKCD, PROS1, PRL, MAP2K5, MAP2K2, MAPK9, MAPK11, PRKDC, PLEK, PLCG2, PVALB, PLCG1, P2RX7, P2RX5, OPRK1, OGG1, OAZ1, NUMA1, ROR2, NT5E, YBX1, NOTCH4, NPY, NME2, NNAT, NHS, NFE2, NFATC3, NFATC2, P2RY1, PAK1, REG3A, SERPINA4, PLAG1, PLA2G1B, PKNOX1, PKD2, PITX2, PIK3R2, PIK3R1, SERPINA1, PAWR, SLC25A3, PGD, PFDN5, PER1, PCM1, PAX6, PAX2, PTX3, RAB27A, TLR3, SMARCA2, SULT2A1, STC1, SSX2, SSTR4, SST, SSRP1, TRIM21, SPARC, SOX12, SOX11, SOX10, SOX2, SOS1, SOD2, SNCA, SIGLEC1, SMPD1, SUV39H1, TACR1, MAP3K7, TERF2, TLE1, TK1, TIE1, THRB, THOP1, TFR2, TFCP2, TMBIM6, TALDO1, TEF, TRGC1, TRG, TRB, TCN2, TCF7L2, TAP1, SMARCD2, SLN, RALA, SLC22A4, RPS6KB1, RPS6KA3, RPS6, RPN1, RPL22, RPL15, RORC, BRD2, RMRP, RHEBP1, RFC1, RBL1, ARID4A, RASGRF1, RARRES1, RARS1, RARB, RRAS, S100A10, S100A11, SHH, SLC19A1, SKP2, SIX1, SIM2, PMEL, SIAH2, SHMT1, SHB, CLEC11A, SH3BP2, SFRP5, SFRP1, SEMG1, SELPLG, SEL1L, CCL18, MIR223HG
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Non-Alcoholic Fatty Liver Disease
Wikipedia
Mild yellow discoloration of the skin may occur, although this is rare. [21] NASH can severely impair liver function, leading to cirrhosis , liver failure , and liver cancer . [4] Comorbidities [ edit ] NAFLD is strongly associated with or caused by type 2 diabetes, insulin resistance, and metabolic syndrome (defined as at least three of the five following medical conditions: abdominal obesity, high blood pressure, high blood sugar, high serum triglycerides, and low serum high-density lipoprotein). It is also associated with hormonal disorders ( panhypopituitarism , hypothyroidism , hypogonadism , polycystic ovary syndrome ), persistently elevated transaminases , increasing age and hypoxia caused by obstructive sleep apnea , with some of these conditions predicting disease progression. [2] [5] [7] [11] [14] [18] [22] The majority of normal-weight people affected by NAFLD ("lean NAFLD") have impaired insulin sensitivity, are sedentary, and have increased cardiovascular disease risk and increased liver lipid levels. ... There is a higher risk of fibrosis for family members where someone was diagnosed with NASH. [20] Asian populations are more susceptible to metabolic syndrome and NAFLD than their western counterparts. [5] Hispanic persons have a higher prevalence of NAFLD than white individuals, whereas the lowest prevalence is observed in black individuals. [18] NAFLD is twice as prevalent in men compared to women, [4] which might be explained by lower levels of estrogen in men. [23] Genetic variations in two genes are associated with NAFLD: non-synonymous single-nucleotide polymorphisms (SNPs) in PNPLA3 and TM6SF2 . ... Vital signs must be monitored frequently afterward (at least every 15 minutes in the hour following the biopsy). [45] According to AASLD guidelines, a liver biopsy may be considered in people with NAFLD who are at increased risk of having steatohepatitis with or without advanced fibrosis, but only when all other competing chronic liver diseases are excluded (such as alcoholic liver disease). The presence of metabolic syndrome, NAFLD Fibrosis Score (FIB-4), or liver stiffness (as measured by Vibration-controlled transient elastography or MRE ) can identify the individuals who are at higher risk of steatohepatitis or advanced fibrosis. [4] The AASLD and ICD-11 consider that clinically useful pathology reporting distinguishes "between NAFL (steatosis), NAFL with inflammation and NASH (steatosis with lobular and portal inflammation and hepatocellular ballooning)" with the presence or absence of fibrosis being described and optionally comment on severity. [4] [5] The EASL recommends the Fatty Liver Inhibition of Progression (FLIP) algorithm to grade the ballooning and classify NAFLD-associated liver injury, and the use of the NAFLD Activity Score (NAS) to grade the severity of NASH rather than for its diagnosis. ... This page and others on the same website, such as one titled "Say no to disinformation," were since then removed. [112] Children [ edit ] Pediatric NAFLD was first reported in 1983. [113] [114] It is the most common chronic liver disease among children and adolescents since at least 2007, affecting 10 to 20% of them in the US in 2016. [18] [114] [115] NAFLD is associated with metabolic syndrome , which is a cluster of risk factors that contribute to the development of cardiovascular disease and type 2 diabetes mellitus.TM6SF2, PNPLA3, NFE2L2, LEP, CYP2E1, PPARA, SIRT1, NR1H4, FGF21, ADIPOQ, PPARD, SREBF1, XBP1, LDLR, CAT, FAS, GNMT, CPT1A, PEMT, NR5A2, TGFB1, AHR, GSTP1, GSTM1, PRKCA, IL1A, JAK2, ACE, CD14, KLB, GSTT1, ALDH2, ABCC2, PTEN, PDK4, GSTA1, IL4, LIF, PRKCE, VLDLR, NQO1, PRKCD, FOLR2, EIF2AK1, TNFRSF1B, CYP17A1, CSF2, ALDH4A1, SCARB1, RDX, F2, STC2, LAMA1, IKBKG, CYP1A2, PRKACA, RAG2, B3GAT1, ALDH1B1, ADH1A, IL3, MMP1, ABCB4, TRIB3, ADH4, ADH1B, PRF1, SERPINB2, AHCY, ALDH1A1, GCKR, ATP5F1B, NCAN, PARVB, SAMM50, FDFT1, PTPRD, PLPP7, KRT18, MIR122, TLR4, ZNF512, IGF1, LEPR, MBOAT7, MIR21, SREBF2, CRP, MTTP, IL1B, SP4, ACTR5, IL6, CRACR2A, PRKAA2, SLC5A2, HFE, PRKAA1, COL13A1, GLP1R, GPT, GGT1, GCG, PPARG, PIK3CG, PIK3CD, PIK3CB, GATAD2A, OSBPL5, DPP4, RBP4, NLRP3, EHBP1L1, PIK3CA, SCD, FBL, ERBB4, DDX60L, SHBG, PWWP3A, PRKAB1, EHMT1, LIPA, APOC3, GGTLC3, CREB5, PPARGC1A, ZGLP1, GGTLC4P, CD36, SLC17A5, CNBP, XPR1, GGT2, TNF, FGF19, TP63, GGTLC5P, ALB, MIR34A, AHSG, GH1, GABPA, LBP, HAMP, FASN, REN, LGALS3BP, CCL2, FABP1, NR1H3, IL17A, MLXIPL, HSD17B13, HNF4A, CYP3A4, SIRT3, AGTR1, APOE, PON1, RARRES2, RETN, MTOR, LOC102724197, FETUB, UCP2, GGTLC1, NR0B2, DECR1, MTHFR, IL10, PCSK9, ACACA, TP53, ANGPTL8, SERPINE1, MIR192, SOD1, APOB, VDR, IRS2, HMGB1, LPL, RCBTB1, NR1I2, APRT, CNR1, SERPINA1, SOD2, TRIB1, FADS2, STAT3, IRS1, FOXO1, PPP1R3B, NR3C2, MFAP1, SELENOP, PLIN2, GOLGA6A, AKT1, PNPLA2, MIR33A, TXNIP, ABCD1, CYBB, HIF1A, FGL1, IL18, FLII, APP, SLC27A5, TNFSF10, APOA5, HSD11B1, TMC4, NRG4, IFNG, HP, CCR2, GCK, KLF6, CHPT1, ABCB11, EGFR, EPAS1, CASP1, MAP3K5, CETP, SPP1, FTO, VEGFA, IFNL3, CEBPA, FABP4, INSR, MIR29A, BGLAP, TLR2, COL1A1, MIR140, GDF15, CYP7A1, ABCA1, SMN2, ANPEP, ACLY, BCO2, SMN1, CXCL16, HMOX1, PRRT2, FST, NTS, NR1I3, TIMP2, TIMP1, CPT2, CMKLR1, HPGDS, MIR155, TERT, BMS1, NPC1L1, CTNNB1, GPX1, CYP4F3, SMUG1, BCL2A1, PARP1, MIR451A, BNIP3, NEAT1, MT1B, MMP2, OR10A4, PRL, MAPK8, MIR378A, NAMPT, SLC10A2, SAV1, AFP, BCO1, GIP, FGFR4, ARNTL, CXCL10, PRKCB, CAV1, AGER, BCL2, GOT2, DLAT, ADIPOR2, AGT, ACE2, GPBAR1, MMP13, CORIN, FAM3A, MC4R, YAP1, POSTN, ABCG5, IL25, MAS1, NLRC4, TLR6, MUC1, CCN4, CCN3, ADIPOR1, SCP2, TNFSF11, FAM3B, CCL20, LUC7L3, SELPLG, GDE1, HSD17B7, SLC2A1, SLC2A2, MLYCD, SLPI, TNFRSF11B, IL22, TRPV1, SPARC, SPTBN1, ATRNL1, STAT5A, STAT5B, TBK1, SETD2, TEK, PDLIM3, S100A8, ROCK1, SOCS1, UGT1A1, MYDGF, CCL27, ENPP1, MTMR11, PPIG, CD163, MEG3, NAT10, PTPA, ECD, USP10, SOCS3, SELENBP1, APLN, MAPK1, PRTN3, SIRT2, ELOVL2, RIPK1, PTGS1, PTPN1, LPIN1, MOK, CRNKL1, SPINK1, CEACAM1, CBR1, MIR375, CASP8, CASP3, FOXO3, FOS, CALCR, MIR146B, GC, GCGR, HCC, BCAT1, GLUL, NCF1, GPR119, AZGP1, BHLHE23, LYPLAL1, GRN, NR3C1, PDIA3, AVP, ATHS, ATF3, C1QTNF1, AR, MLKL, FCGR2B, FOXA1, FAT1, MIR20A, MIR222, MIR149, CYBA, CYP1A1, COX8A, MAP3K8, CYP2D6, MIR126, CHIT1, CES1, ENHO, IRGM, ATN1, PLIN5, FFAR4, ELANE, ELAVL2, CD68, SLC13A5, ESR1, ESRRA, CD5L, FNDC5, ACSL4, AQP9, MIR200C, HSP90AA1, STEAP4, ALPP, ALOX15, ALOX5, ALOX12, LCN2, LINC01672, CXCL8, FAS-AS1, IDH2, INS, ACOX1, ACACB, IGFALS, LECT2, DHRS11, ORAI1, HSPA1A, HSPA1B, GRK2, ASRGL1, PSC, ERLIN1, CXCR6, MIR331, TRPC4AP, PRPF31, RNF19A, CAMKK2, SIRT1-AS, EIF2AK4, WWTR1, TOR1AIP1, POLDIP2, MIR330, APPL1, TIPARP, OSBPL3, LINC01684, HULC, MIR30C1, FGF20, AHSA1, MIR206, MIR212, RBMS3, PRDX4, LNCARSR, MIR223, MIR23B, IL37, MIR24-1, MIR27A, NAAA, SORBS1, INTU, MIR27B, LOC110806263, MIR29B1, SIGLEC7, NOX1, MIR29B2, MIR29C, AATF, MIR30B, PRDX5, LATS2, MIR30C2, B4GALT1-AS1, TMEFF2, MIR367, PHLPP2, LOC100505909, MCF2L, TMED2, MIR1224, MPRIP, SLC27A2, LILRB4, SARM1, RIPK3, CD24, MIR190B, DKK1, TNFSF13B, SNHG20, ZHX2, MIR33B, MLXIP, MGLL, MIR590, DNLZ, VSIG4, ADAMTS13, MIR873, DUSP12, MIR205, OCLN, MIR193B, NMU, EBP, IFNL4, CISD2, IL17RA, TREH, YME1L1, MKRN1, DAPK2, MIR361, DDAH1, PARTICL, MMD, SRRM2, BRD4, ERVK-2, ANGPTL2, PLK4, HPSE, PGRMC1, SIRT4, MIR423, MIR20B, CRTC1, DUSP26, NOX4, MAT2B, ERBIN, PAG1, ACOT13, ZNF300, TIMD4, TBL1Y, WNT3A, FAM83A, MIR200B, LGALS14, UBQLN4, PNO1, CARD6, DGAT2, ADAMTS9, ALLC, TXNRD3, C1QTNF3, TWIST2, TRERF1, NLRP2, IFTAP, CHDH, FBXW7, CWF19L1, SLC47A1, CYP2R1, CPT1C, PPARGC1B, NADK2, FGFBP3, SLC38A8, PCBP4, MAK16, SMURF1, NCOA2, FRTS1, ELOVL6, WNK1, APOO, ARV1, GORASP1, XPO4, NSD1, ABCG8, NLRX1, KCTD17, TMBIM1, SMOC2, GSDMD, DHDDS, LRRC7, CIDEC, HKDC1, CPEB4, TRPV4, PGAP6, COASY, SPX, SESN2, TRAPPC9, ITCH, ANGPTL6, ARRDC3, SEMA6A, CHCHD6, ZFP90, CILP2, HJV, MIR142, MBTPS2, IRF2BP2, INSIG2, ABHD5, RTL1, C1QL3, LINC01194, MIR130A, MIR132, SOST, MIR136, MIR141, IL20, AACS, MIR143, ISYNA1, MIR144, MIR146A, DUOX2, SLC40A1, SLC2A8, DMGDH, CERS2, MIR150, MIR15B, MIR17, MIR185, REPIN1, CTNNA3, MYLIP, MOGAT3, CPP, APPL2, EGLN1, NUDT11, PDIK1L, PIWIL2, SIK1, SLC52A1, HORMAD2, SLC2A12, TMPRSS6, TET2, CROT, LINC01554, UNC5B, MARCHF8, UGT1A4, JAZF1, SIRT6, UGT1A6, UGT1A7, UGT1A8, UGT1A10, CCHCR1, ZBTB38, TREM1, BTBD8, DUOX1, BPIFA4P, HCAR2, C1QTNF9, ARID4B, STING1, ATG7, A2M, STK25, GCLC, FGF1, FGR, FOSB, FOSL2, G6PC, GALR1, GDNF, GPC3, GLB1, GLI2, SLC26A3, GLRX, GNA12, GNAI3, GNAO1, GPI, GPR31, FFAR2, GPS2, GSK3B, GPC4, FCGR3B, FCGR3A, FBN1, DUSP9, EDA, S1PR1, EEF1A1, EGF, EGR1, EIF4E, ENO3, EPHB2, EPHB6, EPO, ERN1, ESRRB, EZH2, F2RL1, FABP2, FABP5, ACSL1, PTK2B, GSTM2, H2AX, HADHB, IGF2, IGFBP2, IGFBP4, IGFBP7, IKBKB, IL2, CXCR2, INPP5D, INSIG1, IRF3, ITGAM, ITGB1, ITIH4, ITPR2, JAK1, JUN, JUNB, JUND, CD82, KRT8, IGFBP1, IFNA13, HADH, IFNA2, HCFC1, HLA-A, HLA-C, HLA-DQA1, HLA-DQB1, HLA-DQB2, HLA-DRB1, NR4A1, FOXA2, HOXD13, HRG, PRMT1, HSPA4, HSPA5, HSPA8, HSPG2, HTR2A, TNC, IFNA1, DSPP, DPYSL3, LCP1, BMP4, ARG2, ARNT, ARRB1, ASNS, ATF4, BAAT, BAX, BCHE, BLVRA, BMP8B, DMD, TSPO, C3, CALCA, RUNX2, CCNC, CD44, CDC42, CDH1, CDK4, AREG, AQP7, KLK3, APOA2, ABO, ACAT1, ACTB, ADM, ADRB2, AEBP1, JAG1, AKT2, ALDOB, AKR1B1, AMD1, AMD1P2, ANGPT1, ANGPT2, AOX1, APOF, AIRE, XIAP, APOA1, CDK8, CDKN2A, CEL, CTNNA1, CTSB, CTSD, CTSG, CTSS, CYP2A6, CYP2B6, CYP2B7P, CYP2D7, CYP2J2, CYP4A11, CYP8B1, CYP19A1, CYP27B1, CYP51A1, DBP, DDOST, TIMM8A, DHCR7, DIO3, CTRL, CCN2, CHRM3, CTF1, CHUK, CIDEA, CLCN2, CNR2, COL3A1, SLC31A1, CP, CPN1, CPOX, CPS1, CREB1, ATF2, CREBBP, CRK, CRMP1, MAPK14, CSF3, CSF3R, CTAA1, LCAT, LGALS3, CAP1, VEGFC, UCP1, UCP3, SLC35A2, UGT1A, UGT2B4, USP4, UROD, UTRN, VCAM1, VIP, STAT1, BEST1, YY1, ZBTB16, LAP, PLA2G7, TFEB, AIMP2, STAM, FOSL1, TRAF3, TPO, TP53BP1, TNFRSF1A, SULT1E1, STK11, SYT1, ADAM17, MAP3K7, TAZ, TCF7L2, TFAM, TFF3, TG, TGFB1I1, THRSP, TIMP3, TLL1, TLR1, NR2E1, TM7SF2, TMPO, TNFAIP3, FGF23, SLC7A5, BAS, TMPRSS11D, GGPS1, ATG5, LITAF, CLOCK, ABCG1, KEAP1, PLPPR4, MFN2, PARP2, DNM1L, PPIF, LRPPRC, SLC25A13, PRMT3, PLIN3, FSTL3, ZNF267, AKR1A1, MERTK, EIF2AK3, GRAP2, PLA2G6, COX5A, PIK3R3, CYP4F2, DENR, RTCA, DGAT1, ABCC3, MBTPS1, TNFSF14, DLK1, TRIM24, CES2, HDAC3, SQSTM1, MBD2, CCRL2, MYOM2, HACD1, NOG, GLP2R, STAT6, STAR, LIPE, P2RX5, NBN, NEU1, NHS, NNMT, NOS2, NOS3, NOTCH1, NRF1, NUCB2, P4HA1, AKR1D1, PAPPA, PC, PCK1, PDGFRB, SERPINA4, SERPINB6, PIGR, PITX3, PKM, HNRNPM, MYD88, MYC, ND6, FADS1, LNPEP, LOXL2, LRP6, LTF, LUM, SMAD7, MAT1A, DNAJB9, MEFV, MET, MIF, CXCL9, MMP9, MPI, MPO, MPST, MRC1, MST1, PKNOX1, PLCG1, PLG, CCL19, SELL, SELP, SETMAR, SFRP4, SFRP5, SRSF3, ST3GAL4, SLC2A4, SLC3A2, SLC6A2, SLC10A1, SLC13A1, SMPD1, SIGLEC1, SNAI1, SORD, SP1, SPRR2A, SQLE, CXCL5, CCL17, PLTP, CCL5, PMCH, PPP1R3C, PRKDC, MAPK3, MAP2K7, PRLR, PTBP1, PTGFRN, PTPN6, PTPRC, PTX3, RARA, OPN1LW, RELA, RLN2, BRD2, RPS6KB1, SORT1, S100A4, H3P10
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Spinocerebellar Ataxia Type 36
Gene_reviews
Spinocerebellar ataxia type 36 (SCA36) is characterized by a late-onset, slowly progressive cerebellar syndrome typically associated with sensorineural hearing loss. ... Typically, individuals with the NOP56 GGCCTG hexanucleotide repeat expansion present a late-onset cerebellar syndrome with or without some additional features (see Natural History). ... The frequency of SCA36 was as high as 21.3% when only strictly selected index cases were considered with a spinocerebellar syndrome and definitive autosomal dominant inheritance [García-Murias et al 2012]; however, an overestimation is possible, given the strict ascertainment criteria. ... Fragile X-associated tremor/ataxia syndrome (FXTAS; see FMR1 -related disorders) is another late-onset ataxia that can clinically resemble SCA36. ... The differential diagnosis of a simplex case of SCA36 (i.e., a single occurrence in a family) is very broad and includes late-onset ataxias of diverse etiology including: toxic (alcohol, drugs), metabolic (vitamin E deficiency, Wernicke encephalopathy), paraneoplastic, and immune (Miller-Fisher syndrome, Bickerstaff encephalopathy, anti-GAD and other antibody-mediated syndromes, gluten ataxia).
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Spondylometaphyseal Dysplasia, Axial
Omim
The lacy appearance of the iliac crest is a feature also of Dyggve-Melchior-Claussen syndrome (223800), but Ehara et al. (1997) pointed out that the severe epiphyseal dysplasia of the proximal femurs and marked platyspondyly with particular double-hump appearance of the vertebral bodies seen in DMC syndrome were not present in their patients. ... Wang et al. (2016) stated that the skeletal phenotypes of the patients reported by Wheway et al. (2015) with the R73P mutation, who were studied as part of a Jeune syndrome (see 208500) cohort, were similar to their own axial SMD patients carrying the R73P variant.
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Tubal Factor Infertility
Wikipedia
External links [ edit ] Classification D ICD - 10 : N70 - N77 ICD - 9-CM : 614 - 616 MeSH : D000292 External resources MedlinePlus : 000888 v t e Female reproductive system Internal Adnexa Ovaries Follicles corpus hemorrhagicum luteum albicans Theca of follicle externa interna Follicular antrum Follicular fluid Corona radiata Zona pellucida Membrana granulosa Perivitelline space Other Germinal epithelium Tunica albuginea cortex Cumulus oophorus Stroma Medulla Fallopian tubes Isthmus Ampulla Infundibulum Fimbria Ostium Ligaments Ovarian ligament Suspensory ligament Wolffian vestiges Gartner's duct Epoophoron Vesicular appendages of epoophoron Paroophoron Uterus Regions Body Uterine cavity Fundus Cervix External orifice Cervical canal Internal orifice Supravaginal portion Vaginal portion Uterine horns Layers Endometrium epithelium Myometrium Perimetrium Parametrium Ligaments Round ligament Broad ligament Cardinal ligament Uterosacral ligament Pubocervical ligament General Uterine glands Vagina Fossa of vestibule of vagina Vaginal fornix Hymen Vaginal rugae Support structures Vaginal epithelium External Vulva Labia Mons pubis Labia majora Anterior commissure Posterior commissure Pudendal cleft Labia minora Frenulum of labia minora Frenulum of clitoris Vulval vestibule Interlabial sulci Bulb of vestibule Vaginal orifice vestibular glands/ducts Bartholin's glands/Bartholin's ducts Skene's glands/Skene's ducts Clitoris Crus of clitoris Body of clitoris ( Corpus cavernosum ) Clitoral glans Hood Urethra Urethral crest Other G-spot Urethral sponge Perineal sponge v t e Female diseases of the pelvis and genitals Internal Adnexa Ovary Endometriosis of ovary Female infertility Anovulation Poor ovarian reserve Mittelschmerz Oophoritis Ovarian apoplexy Ovarian cyst Corpus luteum cyst Follicular cyst of ovary Theca lutein cyst Ovarian hyperstimulation syndrome Ovarian torsion Fallopian tube Female infertility Fallopian tube obstruction Hematosalpinx Hydrosalpinx Salpingitis Uterus Endometrium Asherman's syndrome Dysfunctional uterine bleeding Endometrial hyperplasia Endometrial polyp Endometriosis Endometritis Menstruation Flow Amenorrhoea Hypomenorrhea Oligomenorrhea Pain Dysmenorrhea PMS Timing Menometrorrhagia Menorrhagia Metrorrhagia Female infertility Recurrent miscarriage Myometrium Adenomyosis Parametrium Parametritis Cervix Cervical dysplasia Cervical incompetence Cervical polyp Cervicitis Female infertility Cervical stenosis Nabothian cyst General Hematometra / Pyometra Retroverted uterus Vagina Hematocolpos / Hydrocolpos Leukorrhea / Vaginal discharge Vaginitis Atrophic vaginitis Bacterial vaginosis Candidal vulvovaginitis Hydrocolpos Sexual dysfunction Dyspareunia Hypoactive sexual desire disorder Sexual arousal disorder Vaginismus Urogenital fistulas Ureterovaginal Vesicovaginal Obstetric fistula Rectovaginal fistula Prolapse Cystocele Enterocele Rectocele Sigmoidocele Urethrocele Vaginal bleeding Postcoital bleeding Other / general Pelvic congestion syndrome Pelvic inflammatory disease External Vulva Bartholin's cyst Kraurosis vulvae Vestibular papillomatosis Vulvitis Vulvodynia Clitoral hood or clitoris Persistent genital arousal disorder v t e Sexually transmitted infections (STI) Bacterial Chancroid ( Haemophilus ducreyi ) Chlamydia , lymphogranuloma venereum ( Chlamydia trachomatis ) Donovanosis ( Klebsiella granulomatis ) Gonorrhea ( Neisseria gonorrhoeae ) Mycoplasma hominis infection ( Mycoplasma hominis ) Syphilis ( Treponema pallidum ) Ureaplasma infection ( Ureaplasma urealyticum ) Protozoal Trichomoniasis ( Trichomonas vaginalis ) Parasitic Crab louse Scabies Viral AIDS ( HIV-1/HIV-2 ) Cancer cervical vulvar penile anal Human papillomavirus (HPV) Genital warts ( condyloma ) Hepatitis B ( Hepatitis B virus ) Herpes simplex HSV-1 & HSV-2 Molluscum contagiosum ( MCV ) General inflammation female Cervicitis Pelvic inflammatory disease (PID) male Epididymitis Prostatitis either Proctitis Urethritis / Non-gonococcal urethritis (NGU) v t e Reproductive health Rights Compulsory sterilization Contraceptive security Genital integrity Circumcision controversies Genital modification and mutilation Intersex Education Genetic counseling Pre-conception counseling Sex education Planning Assisted reproductive technology Birth control Childfree / Childlessness Parenting Adoption Childbirth Foster care Safe sex Health Men's Women's Vulvovaginal Research Self-report sexual risk behaviors Pregnancy Abortion Birth spacing Maternal health Obstetrics Options counseling Pregnancy from rape Pregnant patients' rights Prenatal care Teenage pregnancy Preteen pregnancy Unintended pregnancy Medicine Andrology Genitourinary medicine Gynaecology Obstetrics and gynaecology Reproductive endocrinology and infertility Sexual medicine Disorder Disorders of sex development Infertility Reproductive system disease Sexual dysfunction Sexually transmitted infection Clinic By country China India Iran Ireland Pakistan Philippines Singapore United Kingdom Teen United States Teen pregnancy Birth control History Birth control movement in the United States History of condoms Social hygiene movement Timeline of reproductive rights legislation Policy One-child policy Two-child policy Financial Baby bonus Bachelor tax Child benefit Tax on childlessness v t e Assisted reproductive technology Infertility Female Male Fertility clinic Fertility testing Fertility tourism Male infertility crisis Fertility medication Estrogen antagonists aromatase inhibitor clomifene FSH GnRH agonists Gonadotropins menotropins hCG In vitro fertilisation (IVF) and expansions Assisted zona hatching Autologous endometrial coculture Cytoplasmic transfer Embryo transfer Gestational carrier In vitro maturation Intracytoplasmic sperm injection Oocyte selection Ovarian hyperstimulation Preimplantation genetic diagnosis Transvaginal ovum retrieval Zygote intrafallopian transfer Other methods Artificial insemination Ovulation induction Cryopreservation embryos oocyte ovarian tissue semen Gamete intrafallopian transfer Reproductive surgery Vasectomy reversal Selective reduction Sex selection Surrogacy Donation Donor registration Donor Sibling Registry Egg donation Embryo Sperm Semen collection Sperm bank Ova bank Ethics Accidental incest Genetic diagnosis of intersex Religious response to ART Mitochondrial donation Sex selection In fiction See subsection in sperm donation Reproduction and pregnancy in speculative fiction
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Polyuria
Wikipedia
Persons who produce less urine even in the presence of adequate fluid intake are probably not adapting well to altitude. [ medical citation needed ] Urinary tract infection (bacteria are black and bean-shaped) List of causes [ edit ] Emphysematous cystitis Lithium-carbonate General polydipsia [3] psychogenic polydipsia [2] diuretic drugs, osmotic diuresis [10] Urinary system interstitial cystitis [11] urinary tract infection [12] renal tubular acidosis [13] Fanconi syndrome [14] nephronophthisis (genetic) [15] Hormonal hypokalemia [16] diabetes mellitus [17] corticosteroid use [18] pheochromocytoma [19] hyperparathyroidism [20] diabetes insipidus [21] hypercalcaemia [22] hyperthyroidism [23] hypopituitarism [24] Conn's disease [25] hyperglycaemia [26] Circulation congestive heart failure [27] cardiorespiratory disease [28] postural orthostatic tachycardia syndrome (POTS) [29] Neurologic cerebral salt-wasting syndrome [30] neurologic damage [31] migraine [32] Other high doses of riboflavin (vitamin B 2 ) [33] high doses of vitamin D [34] altitude diuresis [35] side effect of lithium [36] hemochromatosis [37] ochratoxicosis [38] Mechanism [ edit ] Polyuria in osmotic cases, increases flow amount in the distal nephron where flow rates and velocity are low.AVP, LEP, PTGES, OXT, PRKCA, AQP2, AVPR2, SLC12A1, IL6, MAGED2, KCNJ1, KCNJ10, PTPN22, NPHP1, SLC5A2, CLDN16, NPHP3, SLC12A3, SLC34A1, HNF1A, CLDN10, ITPR3, BSND, TMEM67, CLDN19, FAM20A, SARS2, NPHP4, CYP24A1, CTNS, PLVAP, CLCNKB, ATP1A1, CLCNKA, CASR, ALB, REN, TGFB1, NLRP3, RAPGEF3, GPR37L1, A4GALT, SYVN1, DOT1L, APLN, SLC4A11, RAPGEF4, NLRX1, AGT, SCT, CUL3, EDN1, AQP1, AQP3, AQP5, B2M, CA2, CBS, CLCN5, CTH, EDA, GRN, WFS1, HNF4A, HP, LNPEP, SERPINE1, PPARA, SLC2A1, TAZ, HNF1B, UMOD, CBSL
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Ovarian Pregnancy
Wikipedia
External links [ edit ] Classification D ICD - 10 : O00.2 ICD - 9-CM : 633.2 MeSH : D065172 SNOMED CT : 9899009 The Ectopic Pregnancy Trust - Information and support for those who have suffered the condition by a medically overseen and moderated UK based charity, recognised by the National Health Service (UK) Department of Health (UK) and the Royal College of Obstetricians and Gynaecologists v t e Pathology of pregnancy , childbirth and the puerperium Pregnancy Pregnancy with abortive outcome Abortion Ectopic pregnancy Abdominal Cervical Interstitial Ovarian Heterotopic Embryo loss Fetal resorption Molar pregnancy Miscarriage Stillbirth Oedema , proteinuria and hypertensive disorders Gestational hypertension Pre-eclampsia HELLP syndrome Eclampsia Other, predominantly related to pregnancy Digestive system Acute fatty liver of pregnancy Gestational diabetes Hepatitis E Hyperemesis gravidarum Intrahepatic cholestasis of pregnancy Integumentary system / dermatoses of pregnancy Gestational pemphigoid Impetigo herpetiformis Intrahepatic cholestasis of pregnancy Linea nigra Prurigo gestationis Pruritic folliculitis of pregnancy Pruritic urticarial papules and plaques of pregnancy (PUPPP) Striae gravidarum Nervous system Chorea gravidarum Blood Gestational thrombocytopenia Pregnancy-induced hypercoagulability Maternal care related to the fetus and amniotic cavity amniotic fluid Oligohydramnios Polyhydramnios Braxton Hicks contractions chorion / amnion Amniotic band syndrome Chorioamnionitis Chorionic hematoma Monoamniotic twins Premature rupture of membranes Obstetrical bleeding Antepartum placenta Circumvallate placenta Monochorionic twins Placenta accreta Placenta praevia Placental abruption Twin-to-twin transfusion syndrome Labor Amniotic fluid embolism Cephalopelvic disproportion Dystocia Shoulder dystocia Fetal distress Locked twins Nuchal cord Obstetrical bleeding Postpartum Pain management during childbirth placenta Placenta accreta Preterm birth Postmature birth Umbilical cord prolapse Uterine inversion Uterine rupture Vasa praevia Puerperal Breastfeeding difficulties Low milk supply Cracked nipples Breast engorgement Childbirth-related posttraumatic stress disorder Diastasis symphysis pubis Postpartum bleeding Peripartum cardiomyopathy Postpartum depression Postpartum psychosis Postpartum thyroiditis Puerperal fever Puerperal mastitis Other Concomitant conditions Diabetes mellitus Systemic lupus erythematosus Thyroid disorders Maternal death Sexual activity during pregnancy Category
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Aldolase A Deficiency
Wikipedia
Contents 1 Symptoms and signs 1.1 Anemia 1.2 Myopathy 1.3 Other 2 Causes 3 Diagnosis 4 Management 5 History 6 References 7 External links Symptoms and signs [ edit ] The low incidence of this syndrome is often related to aldolase A's essential glycolytic role along with its exclusive expression in blood and skeletal muscle. [4] Early developmental reliance and constitutive function prevents severe mutation in successful embryos. [5] Infrequent documentation thus prevents clear generalisation of symptoms and causes. ... S2CID 22397286 . ^ a b Lowry RB, Hanson JW (1977). " " Aldolase A" deficiency with syndrome of growth and developmental retardation, midfacial hypoplasia, hematomegaly, and consanguineous parents". ... "Red Cell Aldolase Deficiency and Hemolytic Anemia: A New Syndrome". Trans. Assoc. Am. Physicians . 86 : 154–66.
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Foot Drop
Wikipedia
Diseases that can cause foot drop include trauma to the posterolateral neck of fibula, stroke , amyotrophic lateral sclerosis , muscular dystrophy , poliomyelitis , Charcot Marie Tooth disease , multiple sclerosis , cerebral palsy , hereditary spastic paraplegia , Guillain–Barré syndrome , Welander distal myopathy , and Friedreich's ataxia . ... Treated systematically, possible lesion sites causing foot drop include (going from peripheral to central): Neuromuscular disease ; Peroneal nerve (common, i.e., frequent) —chemical, mechanical, disease; Sciatic nerve —direct trauma, iatrogenic; Lumbosacral plexus ; L5 nerve root (common, especially in association with pain in back radiating down leg); Cauda equina syndrome , which is cause by impingement of the nerve roots within the spinal canal distal to the end of the spinal cord; Spinal cord (rarely causes isolated foot drop) —poliomyelitis, tumor; Brain (uncommon, but often overlooked) —stroke, TIA, tumor; Genetic (as in Charcot-Marie-Tooth Disease and hereditary neuropathy with liability to pressure palsies ); Nonorganic causes, e.g. as part of a functional neurological symptom disorder . ... Therefore, the normal gait cycle is affected by the drop foot syndrome. The normal gait cycle is as follows: Swing phase (SW): The period of time when the foot is not in contact with the ground.