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Hypertrichosis, Anterior Cervical
Omim
There were no other physical problems in the family except that the proposita also had Turner syndrome due to isochromosome of the long arm of the X chromosome: 46,i(Xq).
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Spinocerebellar Ataxia, X-Linked 4
Omim
Clinical Features Farlow et al. (1987) described a large kindred in which males of 3 generations connected through females showed an apparently X-linked syndrome comprising ataxia, pyramidal tract signs and adult-onset dementia.
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Dysferlinopathy
Gard
The diseases in the group are: Miyoshi myopathy , where there is weakness and atrophy (wasting)of the muscles of the legs that are closer to the feet (distal myopathy) Limb-girdle muscular dystrophy type 2B (LGMD2B) , where there is weakness and atrophy of the muscles of the pelvic and shoulder Scapuloperoneal syndrome, where weakness and atrophy affect both the distal legs and shoulder girdle muscles Distal myopathy with anterior tibial onset , where there is weakness of the front part of the leg and foot drop A form of congenital muscular dystrophy that was referred in a few people, and A condition where there are not symptoms but only an elevated level of the muscular enzyme CK in the blood tests.
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Pulmonary Hyperplasia
Wikipedia
It leads to pulmonary hypertension and acute respiratory distress syndrome . [1] Histologically the lungs classically exhibit "synchronous" hypermaturity". [2] It is thought that this condition is a lot less rare than previously thought due to under recognition. [ citation needed ] References [ edit ] ^ Graf, K. (2008).
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Alpha-2-Deficient Collagen Disease
Omim
The clinical and radiologic abnormalities were reminiscent of both Marfan syndrome and osteogenesis imperfecta. Study of cultured fibroblasts showed a complete failure of synthesis of alpha-2 chains of collagen.
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Idiopathic Hypoglycemia
Wikipedia
A more precise term for that condition is idiopathic postprandial syndrome . See also [ edit ] Hyperinsulinism References [ edit ] Perry, Julian C.; Bourne, Blanche; Lester Henry, W.
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Autosomal Dominant Intellectual Disability 30
Gard
The loss of this gene may also cause some of the features in the recently described 10p15.3 microdeletion syndrome . Treatment depends on the symptoms and features present and may include behavioral therapy, speech therapy, physical therapy, occupational therapy, and medication.
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Necrolytic Acral Erythema
Wikipedia
Necrolytic acral erythema Other names Zinc-responsive necrolytic acral erythema [1] Specialty Dermatology Necrolytic acral erythema is a cutaneous condition that is a manifestation of hepatitis C viral infection or zinc deficiency. [2] It is a papulosquamous and sometimes vesiculobullous eruption bearing clinical and histologic similarity to other necrolytic erythemas such as necrolytic migratory erythema , pseudoglucagonoma and nutritional deficiency syndromes. See also [ edit ] List of cutaneous conditions References [ edit ] ^ RESERVED, INSERM US14-- ALL RIGHTS.
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Spinal Enthesopathy
Wikipedia
External links [ edit ] Classification D ICD - 10 : M46.0 ICD - 9-CM : 720.1 v t e Spinal disease Deforming Spinal curvature Kyphosis Lordosis Scoliosis Other Scheuermann's disease Torticollis Spondylopathy inflammatory Spondylitis Ankylosing spondylitis Sacroiliitis Discitis Spondylodiscitis Pott disease non inflammatory Spondylosis Spondylolysis Spondylolisthesis Retrolisthesis Spinal stenosis Facet syndrome Back pain Neck pain Upper back pain Low back pain Coccydynia Sciatica Radiculopathy Intervertebral disc disorder Schmorl's nodes Degenerative disc disease Spinal disc herniation Facet joint arthrosis This article about a disease of musculoskeletal and connective tissue is a stub .
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Angiolathyrism
Wikipedia
This can result in Cystic medial necrosis or a picture similar to Marfan syndrome . The damaged vessels are at an increased risk of dissection .
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Novel Virus
Wikipedia
It can be an emergent virus , one that represents a new virus, but it can also be an extant virus that has not been previously identified . [1] [2] See also [ edit ] HCoV-EMC/2012 Influenza A virus subtype H1N1 London1_novel CoV/2012 Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) / 2019 References [ edit ] ^ Strauss, James H.
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Charcot-Marie-Tooth Disease Type 1b
Orphanet
Two distinct presentations have been described: (1) an early infantile onset severe phenotype with delayed walking and motor nerve conduction velocities (MNCV) <10 m/s, often referred to as Dejerine-Sottas syndrome (see this term), or (2) a much later onset phenotype (>age 40), with normal or mildly slowed MNCV and more frequent hearing loss and pupillary abnormalities.
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Neurenteric Cyst
Orphanet
A rare, congenital, non-syndromic malformation of neurenteric canal, spinal cord and column, characterized by intraspinal, predominantly intradural-extramedullary cystic mass located typically ventral to the spinal cord.
- Spinocerebellar Ataxia, Autosomal Recessive 3 Omim
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Abdominal Aortic Aneurysm
Gard
The condition has multiple genetic and environmental risk factors, and may sometimes occur as part of an inherited syndrome. When more than one family member is affected, it may be considered "familial abdominal aortic aneurysm."MMP9, MMP14, SOD2, DAB2IP, ELN, AGT, AGTR1, ACE2, PTGS2, LOX, COL3A1, NCF1, CCL2, MMP2, ACE, MMP3, SERPINE1, CSF2, TIMP4, SELL, P2RY12, NOS2, EHF, LRP1, TGFBR2, LDLR, TGFBR1, FBN1, IL6R, TGFB3, ERG, MYH11, PCIF1, MYLK, SMAD3, SLC30A8, CDKN2B-AS1, TGFB2, ACTA2, NSMCE2, MAT2A, PRKG1, VPS51, CRP, ANKRD44, MTHFR, FOXE3, MFAP5, SPP1, TIMP1, IL6, PTPN22, TNF, ANGPT2, ANKRD44-IT1, IL10, APOE, IL1B, TIMP2, HIF1A, TIMP3, TNFRSF11B, PLG, IL1A, REN, MAPK8, IL17A, HLA-DRB1, SMUG1, HMOX1, CST3, TGFB1, PPARG, LEP, NOTCH1, VEGFA, LCN2, SIRT1, SORT1, THBD, ACTB, COX2, MMP12, MTCO2P12, MPO, TLR4, MIR145, CASP1, IFNG, PCSK9, AR, CD68, MAPK3, CXCL8, DPP4, ACSS2, DCN, GCG, LGALS3, NOX4, LPA, LRP5, MMP13, IL18, CPB2, MIR15A, CCR5, CDKN2A, PIK3CB, PIK3CD, PIK3CG, SERPINF2, RIPK1, MIR205, BGN, CXCL12, VCAM1, STAT3, TP53, ADAM17, TAGLN, ALOX5, AGER, THBS1, PIK3CA, HMGB1, AIM2, RBM45, CTSK, NOS3, CCN2, SERPINF1, NLRP3, PCYT1A, UQCRFS1, ADIPOQ, SELENOP, VDR, MMP10, IL4, IL1RN, KLF4, TXN, CXCR4, IFNA13, PLA2G15, ICAM1, CCN3, HP, CXCR2, PLA2G7, PGR, MAPK1, SERPINA1, RALBP1, MFAP4, CYSLTR1, FOXO4, PECAM1, PDGFA, PRKAA2, NHS, MPRIP, MMP7, LTBP4, RIPK3, JUN, ITGAX, MOK, MMP8, RENBP, FBLN5, PLAU, IFNA1, VCAN, FGF2, ACCS, MIR155, CTLA4, MIR33A, FCGR3B, FCGR3A, MIR30C2, MIR30A, F10, CAT, MIR29B2, CTSS, MIR29B1, ESR1, BAK1, ELAVL2, ELANE, EGR1, BAX, BCL2, EHMT1, ADM2, MIR21, DHFR, MIR195, CASP5, CYBB, CYP19A1, SMYD2, CSTB, CAD, GLP1R, HLA-A, GZMB, MAPK14, HLA-B, IL23A, DUOX1, PGR-AS1, CETP, FOXP3, ZGLP1, CCR2, HLA-DQA1, HLA-DRB3, APOA1, ACR, CERNA3, DUOX2, CDKN2B, PLA2G10, AAAS, MIR191, SPARCL1, MSC, SLC33A1, KAT2B, MIR183, RECK, IL18R1, MIR146A, MIR141, MIR147A, APLN, MBD4, MBD2, MIR126, MIR15B, KYNU, TNFSF14, TP63, CCL4L1, SERPINA13P, FCN3, ARHGEF2, ZNF148, FGF23, MIR455, TWIST1, HSP90B1, CRISP2, MIR545, TNFAIP6, POTEF, TMSB4X, C20orf181, MIR1260A, AAA1, LUCAT1, LINC00540, RAB4B-EGLN2, TP53COR1, TM7SF2, CXADRP1, TYROBP, NR4A3, UCP2, MIR221, KAT6A, MIR26A1, AIMP2, PXDN, ARMH1, ZBTB16, ZIC3, XBP1, VWF, VTN, VIM, MIR196B, FCMTE2, MIR363, ARSI, PYCARD, HCAR2, MYDGF, STARD7, MCF2L2, WDTC1, MMRN1, PCBP4, CARD8, ADAMTS5, ADAMTS8, CXCL16, GAS5, ZNF335, TSPYL2, SLC28A3, XYLT1, EBNA1BP2, IFIH1, UTS2, RETN, PAG1, PPARGC1A, ADCY10, MCTS1, MCAT, NOX1, POLDIP2, LRP10, RNF19A, TLR3, DDX58, SLC25A37, IL17D, PADI4, KAT6B, GNG2, DYM, IARS2, HEY2, ANGPTL2, ROBO3, HCST, KLHL35, SCO2, EGLN2, EGLN3, NCOR1, CCL4L2, PTGES, GDF15, SETD2, TIRAP, NTN1, GRAP2, TDRD10, OSCP1, FAM3D, PRSS55, ADCY10P1, TRIP13, IL27, NR1I3, HDAC5, HPSE, EBI3, CXCR6, POSTN, FSD1, DHX40, ZC3H12A, COL18A1, FSD1L, KAT8, AHSA1, SPZ1, ATG7, LANCL1, ABCC11, IL33, RABEPK, TRIM13, TSHZ1, ADAMTS1, SERPINA3, TLR2, EP300, EGFR, EFNA5, PHC1, E2F4, DNMT3A, DNMT1, DNASE1, DECR1, DDIT3, CYP2J2, CXADR, CX3CR1, CTSL, CTSH, CTSB, CSF1, CRK, CREBBP, CORT, COL5A2, COL1A2, CNN2, LTB4R, EIF4E, ESR2, TK1, ETS1, HDAC1, GYPE, GYPB, GYPA, GPX4, UTS2R, GAPDH, GABPA, GAA, MTOR, FOSB, FOS, FLT1, FLNA, FOXO1, FCGRT, FCGR2B, FCER1A, FBLN2, PTK2B, FABP4, F3, EZH2, CCR7, CCR6, CMA1, CGA, ARNTL, ARG1, ABCC6, AQP1, FASLG, APRT, APOH, ANXA2, ANGPT1, ALOX5AP, AKT1, AHCY, AGTR2, AEBP1, AP2A1, ADRB2, ADRA2B, PARP1, ADM, ADAM10, ADAM8, ACLY, ABO, ARR3, ARSA, ATM, CD14, CTSC, CD69, CD59, CD44, CD40LG, CD40, CD36, CD28, CD22, CD19, CD8A, AVP, CD1D, RUNX2, CAV1, CASR, CASP8, MYRF, C3, BTK, KLF5, BLVRA, HLA-DOA, HLA-G, HMGCR, SERPINA5, OPN1LW, PLAAT4, PVT1, PTX3, PTPRC, PTH, PTGER4, PTEN, PSMD7, PSMB8, PRTN3, PROC, PRKAR1A, PRKAB1, PRKAA1, PPIA, CTSA, PPARA, ABCA1, PLAT, PIN1, PF4, PEPD, S100A8, CCL4, CCL8, SRD5A1, TFAP2A, PRDX2, TAF1, ABCC8, STK11, STIM1, STAT5B, STAT5A, STAT1, SRY, SPG7, CCL11, SOX9, SOD1, SMARCA4, SLC16A1, SLC5A2, SHBG, SELP, CX3CL1, CCL20, CCL18, PDE3B, CNTN3, HNF4A, SERPINB2, KLK1, JUND, JUNB, ITGB2, ITGAM, ISG20, IL13, IL12B, IL9, CXCR1, IL2RA, IL2, IL1R1, IGKC, ICAM2, IARS1, HSPG2, HSPD1, HSPA5, HES1, HPN, HPGD, SLC29A2, RPSA, LTA4H, LTB, PPP1R12A, PRDX1, OA3, NRAS, NPPB, NOTCH3, NONO, NKTR, NFIB, NFE2L2, NF1, MYO9B, LTC4S, MUC5AC, MTRR, MTHFD1, MNDA, MMP1, NR3C2, MIF, MFAP1, MDK, MCAM, H3P28
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Pilocytic Astrocytoma
Gard
It most commonly occurs in children and young adults, and in people with neurofibromatosis type 1 (NF1), Li-Fraumeni syndrome , and tuberous sclerosis . This type of tumor can often be cured with surgery.KRAS, BRAF, NF1, KIAA1549, FGFR1, HIF1A, NTRK2, PTPN11, HEY2, HGF, MMP3, ESR2, ESR1, NOTCH1, NOTCH2, MET, MMP9, ACVR1, HEY1, LATS2, NCOA3, LATS1, TP53, NDRG1, AR, DLL3, SDHA, IDH1, IDH2, FLCN, CDKN2A, RAF1, EPHB2, MAPK1, VEGFA, PTEN, OLIG2, H3P10, ATRX, EGFR, PIK3CG, PIK3CD, ZHX2, ABCB1, PIK3CA, PIK3CB, IGF2BP3, SGSM3, CD99, MGMT, AKT1, SOX10, ERBB3, FAM131B, KDR, GTF2I, TXN, MAP2K7, DCX, TBC1D9, HIPK2, PNKP, CIT, GSTP1, ALDH1L1, AQP4, AHSA1, TARDBP, RAMP3, RAMP2, VPS51, MVP, GIT2, AKAP12, ONECUT2, GRAP2, LGI1, CD34, SOCS3, MPRIP, POLDIP2, AQP1, ARHGAP24, MIR24-1, MIR15A, NDUFS7, GADL1, ZAR1, PARP1, DACT2, ASPRV1, AZIN2, ATP23, DCLK3, COL18A1, APOD, GOLPH3, MIB1, LHX9, SAGE1, IMP3, PHF20, ATP6V0A4, ANGPT2, ABCC3, RNF19A, PRDX5, PROM1, TP73, CD63, LRP1, PCNA, PBX3, ERBB2, ERBB4, ETV1, MYB, ETV5, FABP7, MKI67, FGFR3, MATN2, LGALS3, AIMP2, RPSA, FLT1, KIT, IL13RA2, IL1B, FN1, GFAP, HES1, HRAS, GLB1, GCLC, PMP22, MAPK8, CTSL, PTPRA, COL1A1, TYROBP, TWIST1, TTF1, COL2A1, TNR, NR2E1, NKX2-1, TIMP4, TIMP1, ZEB1, SST, SOX2, SMARCB1, SNAI2, CRK, S100B, S100A1, RNASE3, RASA1, MAPK14, ADM, PTPRZ1, PXMP2
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Keratoderma With Woolly Hair
Medlineplus
Type II, also known as Carvajal syndrome, has hair and skin abnormalities similar to type I but features a different form of cardiomyopathy, called dilated left ventricular cardiomyopathy. ... This form of the condition may affect up to 1 in 1,000 people from the Greek islands. Type II (Carvajal syndrome), type III, and type IV have each been identified in only a small number of families worldwide.
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Permanent Neonatal Diabetes Mellitus
Medlineplus
This combination of developmental delay, epilepsy, and neonatal diabetes is called DEND syndrome. Intermediate DEND syndrome is a similar combination but with milder developmental delay and without epilepsy.
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Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Omim
A number sign (#) is used with this entry because of evidence that a syndrome of infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development (CASGID) is caused by heterozygous mutation in the glutaminase gene (GLS; 138280) on chromosome 2q32. ... GLS loss of function is implicated in a form of neonatal epileptic encephalopathy (EIEE71; 618328) and a syndrome of global developmental delay and progressive ataxia (GDPAG; 618412).
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Toxidrome
Wikipedia
Toxidrome [1] Symptoms BP HR RR Temp Pupil size Bowel sounds Diaphoresis anticholinergic ~ up ~ up up down down cholinergic ~ ~ ~ ~ down up up hallucinogenic up up up ~ up up ~ sympathomimetic up up up up up up up sedative-hypnotic down down down down ~ down down A toxidrome (a portmanteau of toxic and syndrome ) is a syndrome caused by a dangerous level of toxins in the body.