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Arterial Tortuosity Syndrome Gene_reviews

Arterial Tortuosity Syndrome (ATS): Frequency of Select Features View in own window Feature % of Persons w/Feature 1 Comment Cardiovascular findings Aortic tortuosity 92% Tortuosity of other arteries 80% Aortic root aneurysm 16% Aggressive in young childhood or slowly progressive in adolescence/adulthood Pulmonary artery stenosis 57% Aortic stenosis 24% Other arterial stenosis 15% Autonomic dysfunction 18% Craniofacial features Characteristic facial features ~60% Overall estimate, mainly based on authors' personal experience Long face 73% Downslanted palpebral fissures 42% Convex nasal ridge 37% Full cheeks 54% Micrognathia 58% High palate 49% Cleft palate / bifid uvula 7% Findings of generalized connective tissue disorder Joint hypermobility 76% Joint pain 26% Progressive w/age Cutis laxa 31% Inguinal hernia 38% Diaphragmatic/sliding hernia 29% Skeletal findings Pectus deformity 28% Arachnodactyly 30% Scoliosis 22% Eye findings Keratoconus 15% Recent finding; # of persons assessed in detail is limited.

SLC2A10, MUS81, TGFBR1, TGFBR2, SMAD3, TGFB2, NT5E, COL4A4, SLC2A11, COL4A3, COL4A5, NXT1, ZNF197, MRPL28, SUB1, LAMTOR1, EFEMP2, ATRAID, MAFK, TPPP2, H3P12, EEF1E1, APOE, UBE2I, TNXB, CDKN2B, SLC2A1, PON1, P4HB, MYH9, MTHFR, FN1, ELN, COL4A1, CFL1, CDKN2C, H3P9

Arterial Tortuosity Syndrome Wikipedia

Arterial tortuosity syndrome (ATS) Arterial tortuosity syndrome has an autosomal recessive pattern of inheritance Specialty Cardiology Symptoms Congenital diaphragmatic hernia [1] Causes Mutations in SLC2A10 gene [2] [3] Diagnostic method CT scan, MRI [4] Treatment Possible surgery for aortic aneurysms [5] Arterial tortuosity syndrome is a rare congenital connective tissue condition disorder characterized by elongation and generalized tortuosity of the major arteries including the aorta . [1] [6] It is associated with hyperextensible skin and hypermobility of joints , however symptoms vary depending on the person. Because ATS is so rare, not much is known about the disease. [ medical citation needed ] Contents 1 Signs and symptoms 2 Genetics 3 Pathophysiology 4 Diagnosis 5 Treatment 6 References 7 Further reading 8 External links Signs and symptoms [ edit ] Among the signs and symptoms demonstrated, by this condition are the following: [1] [5] Arachnodactyly Congenital diaphragmatic hernia Mental dysfunction Keratoconus Aortic regurgitation Blepharophimosis Genetics [ edit ] Chr 20 Arterial tortuosity syndrome exhibits autosomal recessive inheritance, and the responsible gene is located at chromosome 20q13 . [6] [2] The gene associated with arterial tortuosity syndrome is SLC2A10 and has no less than 23 mutations in those individuals found to have the aforementioned condition. [2] [3] Pathophysiology [ edit ] The mechanism of this condition is apparently controlled by(or due to) the SLC2A10 gene. [4] The molecular genetic pathogenesis finds that SLC2A10 encodes GLUT10(in nuclear membrane , or the endoplasmic reticulum , the later of which GLUT10 transports DHA into).Clinically speaking, according to one review, the condition of tortuosity is seen more with the advance of age. [4] [7] Diagnosis [ edit ] In terms of the diagnosis of arterial tortuosity syndrome can be done via genetic testing, [8] as well as the following listed below: [4] CT MRI Echocardiogram Physical exam(for specific characteristics) Treatment [ edit ] The treatment of arterial tortuosity syndrome entails possible surgery for aortic aneurysms , as well as, follow ups which should consist of EGC . The prognosis of this condition has it at about 12% mortality [5] [9] References [ edit ] ^ a b c "Arterial tortuosity syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program" . rarediseases.info.nih.gov . Retrieved 2017-03-21 . ^ a b c Reference, Genetics Home. "SLC2A10 gene" . Genetics Home Reference . Retrieved 22 March 2017 . ^ a b "OMIM Entry - # 208050 - ARTERIAL TORTUOSITY SYNDROME; ATS" . omim.org .
Arterial Tortuosity Syndrome Medlineplus

Arterial tortuosity syndrome is a disorder that affects connective tissue. Connective tissue provides strength and flexibility to structures throughout the body, including blood vessels, skin, joints, and the gastrointestinal tract. As its name suggests, arterial tortuosity syndrome is characterized by blood vessel abnormalities, particularly abnormal twists and turns (tortuosity) of the blood vessels that carry blood from the heart to the rest of the body (the arteries ). Tortuosity arises from abnormal elongation of the arteries; since the end points of the arteries are fixed, the extra length twists and curves. Other blood vessel abnormalities that may occur in this disorder include constriction (stenosis) and abnormal bulging (aneurysm) of vessels, as well as small clusters of enlarged blood vessels just under the skin (telangiectasia).
Arterial Tortuosity Syndrome Gard

Arterial tortuosity syndrome is a disorder that affects connective tissue (a tissue that provides strength and flexibility to structures throughout the body). It is characterized by blood vessel abnormalities, particularly abnormal twists and turns (tortuosity) of the blood vessels that carry blood from the heart to the rest of the body (the arteries). Other blood vessel abnormalities that may occur in this disorder include constriction (stenosis) and abnormal bulging (aneurysm) of vessels, as well as small clusters of enlarged blood vessels just under the skin (telangiectasia). Other features include: Joints that are either loose and very flexible (hypermobile) or that have deformities limiting movement (contractures) Soft and stretchable skin Long, slender fingers and toes (arachnodactyly) Curvature of the spine (scoliosis) Sunken chest (pectus excavatum) or protruding chest (pectus carinatum) Protrusion of organs through gaps in muscles (hernias) Elongation of the intestines or pouches called diverticula in the intestinal walls People with arterial tortuosity syndrome often look older than their age and have distinctive facial features. The cornea, which is the clear front covering of the eye, may be cone-shaped and abnormally thin (keratoconus).
Arterial Tortuosity Syndrome Omim

A number sign (#) is used with this entry because of evidence that arterial tortuosity syndrome (ATORS) is caused by homozygous or compound heterozygous mutation in the gene encoding glucose transporter GLUT10 (SLC2A10; 606145) on chromosome 20q13. Description Arterial tortuosity syndrome is a rare connective tissue disorder characterized by generalized tortuosity, elongation, stenosis, and aneurysms of the major arteries. Skin and joint abnormalities, including hyperextensibility or hyperlaxity of the skin, joint laxity or contractures, and inguinal hernias, may also be observed. Other abnormalities include micrognathia, elongated face, high palate, beaked nose, sliding hernia, and ventricular hypertrophy (summary by Coucke et al., 2006). Clinical Features From Ankara, Turkey, Ertugrel (1967) described a 10-year-old girl with generalized tortuosity and elongation of all major arteries including the aorta.
Arterial Tortuosity Syndrome Orphanet

A rare autosomal recessive connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries. Epidemiology Approximately 100 patients have been described in the literature so far. The male to female ratio is 1:1. Clinical description The clinical manifestations are variable, depending on the arteries affected. Onset usually occurs in infancy or early childhood. The cardiovascular anomalies may lead to right ventricular hypertension, acute respiratory symptoms, ventricular hypertrophy and cardiac failure. Patients are prone to aneurysm formation, dissection and ischemic events.

17q12 Recurrent Deletion Syndrome Gene_reviews

Among 16 studies that reported premature birth (gestational age <37 weeks), 13 of 47 individuals (28%) were affected. Nonspecific structural brain findings.

Creatine Deficiency Syndromes Gene_reviews

These studies together with two miscellaneous cohorts resulted in 28 positive cases out of 7,218, for a prevalence of 0.4% (CI 0.2-0.5).

Autosomal Dominant Tubulointerstitial Kidney Disease – Ren Gene_reviews

ADTKD- REN : Comparison of Phenotypes by Genotype and Select Features View in own window Features Childhood/Adolescent Onset Adult Onset Signal peptide 1 Prosegment 1 Mature peptide 2 # of families/persons 21/69 4/27 5/15 Mean age at presentation ± SD 19.7±15.7 yrs 22.4±20.2 yrs 37.0±12.4 yrs Age at presentation <10 yrs 39% 61% 0 10-20 yrs 32% 11% 0 >20 yrs 29% 28% 100% Presented with: AKI 10% 0 0 Anemia, acidosis, CKD 13% 0 0 Anemia 31% 50% 0 CKD 22% 14% 25% Gout 25% 36% 75% Anemia as child 91% 69% 0 Gout 56% 65% 54% Age of first gout attack 29.7±9.9 yrs 25.7±8.2 yrs 32.9±11.2 yrs Age of ESRD 53.1±10.6 yrs 50.8±17.6 yrs 63.6±7.6 yrs Adapted from Živná et al [2020] AKI = acute kidney injury; CKD = chronic kidney disease; ESRD = end-stage renal disease 1.

Chronic Lymphocytic Leukemia Wikipedia

These B cells resemble normal lymphocytes under the microscope, although slightly smaller, and are fragile when smeared onto a glass slide, giving rise to many broken cells, which are called "smudge" or "smear" cells. [26] Smudge cells in peripheral blood The Matutes's CLL score allows the identification of a homogeneous subgroup of classical CLL, that differs from atypical/mixed CLL for the five markers' expression (CD5, CD23, FMC7 , CD22, and immunoglobulin light chain) Matutes's CLL scoring system is very helpful for the differential diagnosis between classical CLL and the other B cell chronic lymphoproliferative disorders, but not for the immunological distinction between mixed/atypical CLL and mantle cell lymphoma (MCL malignant B cells). [27] Discrimination between CLL and MCL can be improved by adding non-routine markers such as CD54 [28] and CD200. [29] Among routine markers, the most discriminating feature is the CD20/CD23 mean fluorescence intensity ratio. ... "Richter syndrome: biology, incidence, and therapeutic strategies" . Cancer . 103 (2): 216–28. doi : 10.1002/cncr.20773 . PMID 15578683 .

TP53, ATM, CCND1, IGHV3-21, P2RX7, ARL11, IKZF3, POT1, IGHG1, RPS15, CD19, IGH, BCL2, CLLS2, ZAP70, CD38, IGHV3-69-1, LOC102723407, LOC102724971, FCER2, ABCB1, DLEU2, IGHV3OR16-7, DLEU1, MS4A1, KRT20, TCL1A, BAX, AICDA, TNF, RB1, VEGFA, TCL1B, BCL3, BCL6, LAIR1, MCL1, IL2, CD5, LOC105379528, LOC390714, TRIM13, CD40LG, TLR9, LPL, TBC1D9, MDM2, IL6, CXCL8, TNFSF13B, NOTCH2, TRBV20OR9-2, CDKN1B, IL4, FGF2, IGHV3-52, CD34, IFNG, CD8B, CD8A, CDKN2A, EGFR, MIR15A, MMP9, TNFSF13, CDR3, CXCR4, VAV1, BCL11A, IL15, PIK3CB, PIK3CA, IGHV5-78, TCF3, HCLS1, HMMR, PTPA, CD28, PIK3CG, CD27, IL1B, PIK3CD, ACP3, IL2RB, BCL2A1, FCRL2, ST13P4, CD52, IL10, PDE4A, BCL2L1, ROR1, NT5E, TNFRSF17, ANP32B, NOS2, KRAS, MYD88, CD40, HLA-G, BCL2L11, DBH, CTTN, CD74, DUSP8, AKT1, ST13, CXCL12, XIAP, CD79B, BCL11B, ICOS, GPRC5A, BCL10, MIR16-1, GRAP2, TERC, IL18RAP, ADIPOQ, IL18R1, PDLIM7, TLR2, TGFBR1, TERF1, PROM1, TERT, TLR4, AIMP1, MIR29A, DERL3, LAP, DEL13Q14, KIR2DL5B, CXADRP1, BMS1P20, AIMP2, TUFM, CUL5, PTP4A2, NR1I3, MIR337, TNFRSF1B, TRH, MIR17HG, IL33, KHSRP, TRAF2, TRAF1, TP73, H3P8, PEA15, GORASP1, ATAD1, FCRL3, WLS, POLDIP2, SIGLEC7, TNFRSF13C, LAMTOR2, CHST11, IL22, IGK, AK3, WNK1, TRAT1, TLR7, DCDC2, MIR15B, ISYNA1, GDE1, SF3B6, RTEL1, MARCKSL1, FCRL1, PACC1, TWSG1, SPRYD7, KIR2DL5A, ARHGAP20, IL21, RNF19A, NTSR2, SMUG1, FCRL5, ORAI1, DNM1L, MIR150, MIR142, LINC01194, CDK2AP2, CLEC4D, HPSE2, GNLY, AHSA1, KCNRG, PLK2, SUB1, LILRB4, PIM2, SYVN1, RPP14, CRYGEP, PSIP1, SETDB2, ARHGAP24, FCRL4, PEG10, SEC14L2, RBM45, CIB1, ABL1, SYT1, CYP1A1, DOK1, DNMT1, DCN, DCK, DAP, CYP2C9, CXADR, CRY1, CUX1, CTPS1, CTNNB1, CTLA4, CSF3, MAPK14, DPP4, EGF, ERCC1, ERCC2, ETV3, F2R, F9, PTK2B, FANCB, FCGR3A, FCGR3B, FGFR3, FH, FOS, FOSB, GABPA, GEM, CRYGC, CRK, GNAS, ATR, BTG1, BRCA2, BRCA1, CXCR5, BCR, BAG1, ARR3, CR2, FASLG, FAS, APAF1, ANXA5, ANGPT2, ANG, BTK, CASP3, CASR, CCND2, CD1C, CD1D, CD2, CD80, CD86, CD53, CD70, CD79A, CDKN2B, CDKN3, CDR2, CCR7, MAP3K8, GLI1, CXCR3, SYK, POU2F2, PTN, PTEN, EIF2AK2, MAPK1, PRKAR1A, PPP2R1B, PLAT, NGF, ABCB4, PGM3, PAX5, OCA2, NRAS, NPAT, PTPRO, RAD51, RAG1, RARS1, PLAAT4, RELA, S100A9, SDC1, SELL, SLC2A1, SLC7A4, SLC22A2, SPG7, STAT1, STAT5A, STAT5B, SULT1E1, NOTCH1, NFKB2, NR3C1, IGL, IL15RA, IL11, IL5, IL3, IL1RN, IL1A, ICAM1, NFKB1, HSP90AA1, HRAS, CFH, NCKAP1L, GUSB, GSTM1, IL18, ITGAL, ITGAX, ITGB2, JAK2, JUN, JUNB, JUND, KIR2DS1, KIR2DS3, KIR3DL1, CD180, MME, CD200, ABCC1, MYC, NFE2L2, H3P31

Coronary Artery Disease Wikipedia

In adults who go to the emergency department with an unclear cause of pain, about 30% have pain due to coronary artery disease. [27] Angina, shortness of breath, sweating, nausea or vomiting, and lightheadedness are signs of a heart attack, or myocardial infarction, and immediate emergency medical services are crucial. [26] Symptoms in women [ edit ] Symptoms in women can differ from those in men, and the most common symptom reported by women of all races is shortness of breath. [28] Other symptoms more commonly reported by women than men are extreme fatigue, sleep disturbances, shortness of breath, indigestion, and anxiety. [29] However, some women do experience irregular heartbeat, dizziness, sweating, and nausea. [26] Burning, pain, or pressure in the chest or upper abdomen that can travel to the arm or jaw can also be experienced in women, but it is less commonly reported by women than men. [29] On average, women experience symptoms 10 years later than men.

TERT, APOA5, NOS3, TCF21, LDLR, ABO, CDKN2B, ANGPTL4, PCSK9, LPA, PHACTR1, PECAM1, PLPP3, JCAD, SH2B3, ZC3HC1, GUCY1A1, MRAS, ABCG8, LIPA, MIA3, ATP2B1, HHIPL1, WDR12, LMOD1, MIR146A, HMOX1, PROCR, PON1, PTGS2, APOC3, APOA1, ESR1, ADAMTS7, CXCL12, CRP, TLR4, CCL2, GDF15, KL, ACE, MMP3, VEGFA, LTA, SORT1, IRS1, GNB3, ADTRP, TRIB1, CD40LG, ESR2, NPPB, APCS, EPO, IRAK1, DDAH2, PAPPA, TRAF6, PDGFD, MIR146B, ABCG5, NAT2, ANKS1A, HECTD4, MRPS6, LPL, CDKN2B-AS1, MTHFR, AGT, IL6R, PLG, APOE, TGFB1, ABCA1, EDN1, SCARB1, HNF1A, FN1, TCF7L2, SLC22A3, LPAL2, FLT1, COL4A1, SMARCA4, COL4A2, HDAC9, ZPR1, CELSR2, CFDP1, SMAD3, LRP1, MRTFA, GALNT2, NPC1, DAB2IP, KCNJ13, GCK, AS3MT, ARL15, ITGA1, FURIN, LOX, CDH13, CFTR, AFG3L2, TEK, ZFPM2, GIP, MTHFD1L, MAP3K7CL, PRKCE, CNNM2, PRDM16, KCNK5, TOMM40, ARNTL, AKAP13, ARHGEF26, THSD7A, GIGYF2, SVEP1, STN1, IGF2R, CCDC92, CYP21A2, RRP1B, LIPG, SCAF11, SEMA5A, ADIPOQ, FBN1, STOML1, F2, FHL5, DAB1, MORF4L1, TSPAN9, KDELR2, IGF2BP1, TDRKH, PDLIM5, TENT4A, COG5, EML1, ZNF652, N4BP2L2, STAG1, R3HDM2, HS3ST1, RPH3A, PALLD, PDS5B, ZEB2, DHX38, ZHX3, F5, DECR1, GOSR2, NCOA6, SETD1B, VAT1, GGCX, UNC5C, PCYT1A, IL1B, IL1A, OLR1, TNFRSF11B, SERPINE1, PAX5, IFNG, SERPINA5, PHB, PLA2G6, ICAM1, PLA2G1B, PLA2G2A, PLCL1, PLCG1, PLCG2, PON2, PPARA, IL1RN, IL6, NFKB1, NEDD9, LEP, ITGB3, LIPC, MAT2A, MEF2A, MMP1, MMP2, IL18, IL17A, MMP9, MPI, MPO, IL10, MYH11, MYO9B, CXCL8, HNRNPM, PPARG, HP, FOXA3, SLC22A4, GGT7, NUP210, KAT2A, THBD, TNF, TNS1, TP53, UMPS, VDR, VWF, FKBP5, KCNAB1, PLA2G7, FGB, FES, ELL, MAD1L1, GJA4, ST3GAL4, HMGCR, SELP, HTRA1, PTK7, HIVEP2, MOK, HGFAC, HFE, CFH, ARID4A, REN, REST, RRBP1, GSTT1, GSTM1, SARS1, ATXN2, CCL5, SELE, ARHGAP26, SWAP70, MCF2L, CCM2, TSPAN14, ALOX5AP, DRC3, CHST9, MAST4, GSTK1, GPR149, C5, UBE2Q2P1, NOA1, C2, C1S, TUBB6, RAB37, CORO6, FBF1, ALOX5, CAD, KSR2, CARF, AQP4-AS1, AGTR1, MIR126, CENPO, CASC15, TEX41, ZC2HC1C, DOK3, TMEM163, NAA25, TRPM3, PCNX3, ALB, SERPINA2, ALDH2, RSPH6A, HNF1A-AS1, TRIM5, SERPINH1, ASZ1, SLC2A12, B4GALNT2, ANKRD13B, LINC01312, ZNF831, SLCO6A1, SRFBP1, ARHGAP42, TPTE2, CWF19L2, RHOA, ATP1B1, RASGEF1B, PLEKHA7, ZNF827, FGD5, SHOC1, PRDM6, BMPR1B, EHBP1L1, SBF2-AS1, SELENOI, ABCC10, KCNH7, ANXA11, CCDC97, BMP1, EXOC3L2, BDNF, APOB, ATPAF2, DAGLB, NEK9, CFB, KIF6, DCLK2, NBEAL1, DHX58, AGER, TARID, LINC01412, POM121L9P, C5orf67, NME7, HIF1AP1, BORCS7-ASMT, TMEM106B, BCAS3, VPS11, QRICH1, UHRF1BP1, MSL2, MAP1S, CHDH, SOX6, CD14, DDX59-AS1, CSK, CST3, ANGPTL3, SMG6, CERNA3, ARHGEF12, LINC02732, SIRT1, CORO1C, CYP2C19, CYP1A1, CYBA, CX3CR1, LINC02542, ZFPM2-AS1, KANK2, LINC01950, HPGDS, FGD6, TENT5A, ARHGAP15, MIR499A, CETP, SHROOM3, CDKN2A, FBRSL1, MARK4, MIR3936HG, LINC02709, MIR21, THADA, ZNF335, CD36, PARP12, ILRUN, FNDC3B, ADRB2, MIR155, P2RY12, LINC02398, PLEKHG1, LINC00881, KIAA1217, APOM, FGD5-AS1, NDUFA12, BCAP29, SUSD2, BCRP1, CD300LF, RETN, CHRNB4, TBX20, CCR2, VPS51, PLA2G15, HIF1A, F7, COPD, LRP6, ADRB1, ABCB1, PGR-AS1, IGF1, KDR, USF1, RARRES2, 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ADRB3, VIP, KALRN, NANOS3, GSTP1, PPBP, SLC33A1, HSD11B1, FLNA, GSTM2, F13A1, F12, FSHMD1A, FADS2, TNC, CASP1, MIR31, PIK3CD, MTTP, PIK3CA, AR, F8, MTRR, BRAP, CBSL, IL16, NR3C2, CPB2, LCAT, GCG, SH2D1A, STAT1, CYP4A11, MIF, CYP2C8, SMUG1, CYP19A1, APOA2, TCP1, THBS2, SULT1E1, TM6SF2, SPP1, ARSA, SERPINF1, ISYNA1, ACTA2, F10, PDE4D, EHMT1, GCKR, RPSA, MBL2, ACHE, RNLS, APOC1, ACP1, PTGS1, IL34, ABCG2, NOS1AP, THBS4, F2R, CCR7, NTN1, CR1, BGLAP, TNFRSF6B, MGAM, SELENBP1, CCHCR1, F2RL3, GPR162, FABP3, VEGFC, LGALS3BP, C5AR2, IL37, GREM1, PLAT, ARID5B, LMNA, HSPA2, S100A8, S100A9, MIR142, PEAR1, PLTP, ASGR1, FCGR2A, C3, POC1A, INS, FCMTE2, NOS2, GP1BA, NOS1, TMSB4X, ELANE, CCND1, CYP4F2, NFE2L2, MMP7, EGR1, CDH2, TLR2, HAMP, MLXIPL, UTS2, MMP12, ANPEP, ECE1, DBP, SREBF2, ANGPTL8, EBF1, CNR1, HLP, SI, STARD7, THPO, SLC2A9, BTNL2, IL15, BUD13, MIR17, ANGPT1, CD28, PROM1, TNFSF15, SERPINB2, MEFV, PTPRC, ERCC2, CYP3A4, P2RY1, ADM, BTBD8, CXCL5, CXCL10, MGP, EPHX2, AKR1A1, OGG1, IL2, KLF2, CCN1, CXCR4, CD86, THAS, FGFR4, NEXN, XRCC3, BHMT, CNBP, FOXM1, BMP2, ARG1, TGFBR2, SUV39H1, VTN, GATA4, KLF14, TLR1, BAX, TMEM170A, TNFAIP3, GALNT3, GABPA, TNNT1, TADA1, BCL2A1, TGM2, C1QTNF3, C1QTNF1, PWAR1, UMOD, ZFHX3, IL23R, MUC16, MYOCD, GGT1, STS, TBX5, ADAM17, VIM, H3P40, BCAR1, BRCA1, SLC27A4, CYP3A5, CAMTA1, TBC1D9, MON2, COG2, DLD, CLU, MEPE, CHGA, CD59, CES1, TRIB3, EGFR, SLCO1B1, EGR3, GAS5, ELAVL2, MARK2, CYP2E1, ANGPTL2, MMD, PADI4, INSIG2, ASCC1, FCMTE1, CSF3, IL17D, SETD2, HDL3, CTLA4, CPOX, PLA2G2D, PTPN22, CDKAL1, SOSTDC1, PART1, CTSS, GCA, DDAH1, CD68, NOD2, SOAT2, C5AR1, VAMP3, PNPLA3, KLF4, COL18A1, LDB2, SOCS3, FBN2, ARHGEF7, NR1I2, GMCL1, TNFSF14, C3AR1, MAP1LC3A, SOCS1, BSG, TNFSF11, MADD, APOL1, PPIG, SP6, COX5A, F11, GMCL2, AIDA, C12orf43, AGXT2, UBE2Z, KCNE2, CAV1, MVP, CASR, SLC52A2, ETS1, BMS1, PCLAF, DHX40, CASQ2, CLOCK, TBPL1, ST2, HSPA14, ALCAM, NCAM1, ACR, LUM, CXCR2, ACAT2, S100A1, MIR122, S100B, SAA1, LTA4H, AHR, SRGN, BRINP3, CCL19, MIR33A, MIR34A, TP53COR1, GPIHBP1, CCL11, MIR93, NCF2, PF4, PARP1, ADH1B, IRF6, INSR, GGTLC4P, ACTG1, MIR23A, C1QL3, MIR210, MMP13, HSPA5, IL9, MVK, ZGLP1, MIP, PLIN2, HSPB1, MIR222, PTPRA, MCL1, ADRA2A, RENBP, MIR206, MIRLET7C, PLA2G5, MC4R, HLA-DQB1, RFX1, MAX, ROS1, ENPP1, MIR143, CCL21, COX1, MIR19B1, OXCT1, IL5, SLC25A1, ADAM10, APOD, HOTTIP, IL1R1, OPA1, MIR486-1, SNRNP70, SOAT1, SLC6A4, SOD1, GCLC, GGTLC5P, SPARC, LAMP2, LAG3, LAD1, FAS, NPR3, NUCB2, H3P10, NNMT, IGFBP3, ACACA, SHC1, GGT2, GPT, ITGA2, GGTLC3, ANXA2, SFRP4, ANXA5, MIR378A, ITGB2, LGALS3, MMP8, MIR149, MIR451A, JAK2, MIR423, IL27, NGF, NFKBIA, AICDA, CHRNA3, CHIT1, KMT5AP1, ACKR3, MIR4306, KLLN, MIR1257, PNPLA2, CKMT2, RTN4, PRDM10, CDH3, RHOJ, MIR939, NCF1C, MIR545, CRLF2, CD44, MIR574, HEATR6, MIR585, CPAT1, MIR624, BACH2, CD69, HULC, ZNF410, SUGP1, MIR4271, AKR1B1P3, RNF213, CDH4, CECR, CEL, CFAP97, ARHGAP31, COG6, XPO5, KIDINS220, NLN, PLEKHG5, MIR3201, AQP5, CMA1, APOA1-AS, ADAMTSL4, THRA1/BTR, CRH, CPT1A, CPS1, PERCC1, DYM, ACACB, CPN2, SLCO1C1, CPE, CASZ1, ELOVL2, TMEM132A, MTARC2, LOC102724197, TUG1, MARCHF1, TREM1, DUOX1, MIR2355, IL23A, CLEC1B, UBAP1, TLR7, TLR8, H3P28, CRK, VTA1, SIRT6, CES1P1, CST12P, GHRL, RTEL1, H3P9, INPP5K, ADA2, LINC02605, ABL2, RN7SL263P, ACADS, ACAT1, AGGF1, COMT, PARL, NFKBIZ, COX10, ITLN1, LINC00968, MAP3K8, CORT, KDM3A, SELENOS, MIR6090, COMP, COL3A1, ADAM8, LINC01672, COL1A2, ACKR2, ADAR, MYDGF, MICOS10-NBL1, MIR4513, CAMK2N1, YOD1, NADSYN1, ACP5, IFNG-AS1, APPL2, BANCR, CPA3, RCBTB1, OGFOD1, QRSL1, FBXW7, CP, COX10-AS1, FALEC, MIR5187, HIF1A-AS2, MIR4516, MEG3, SPAG11A, MIR340, PRB2, BDKRB1, IRF2BP2, GGTLC1, LCE1A, INTS4, BDKRB2, MCIDAS, AMH, GOLGA6A, OPN4, AMFR, ABCB5, ARMH1, IL17F, HCAR2, TMEM54, BCL3, IFNE, C1QTNF5, NLRP12, ALPL, LRRC3B, WNT3A, BRAF, SNHG7, ALDH1B1, SUMO4, BMPR2, DOCK7, BMPR1A, TSLP, BMP7, ALOX15B, BMP4, MALAT1, CA13, BLVRA, MACIR, MCFD2, TBL1Y, BID, TNFRSF13C, NUS1, WFDC21P, ZBTB7C, RERE, SERPINA12, NRG4, JMJD1C, PRSS55, SERPINC1, SIX5, PTPRVP, MLKL, APOC4, ERFE, ASXL1, ARRB2, THAP5, ARHGAP4, C16orf82, FASLG, SPAAR, ATP4B, SPESP1, CMTM5, LINC00841, SCAI, LRG1, XKR6, CYP2R1, TREML4, EARS2, METRNL, ANXA1, IFNL3, HCG27, AOC2, UTS2B, DOCK11, CACUL1, ATR, SCML4, APC, APEX1, C1QTNF12, ATAD1, BRCA2, CAPG, MDD1, MIR34B, CASP8, MIR32, MIR30C2, CASP3, MIR30C1, CAPN3, CAMP, FAT4, ZNF606, MIR25, MIR224, CALR, CALM3, CALM2, MIR221, MIR22, MIAT, SLC7A13, AKT2, WNK1, NDST4, MIR455, CD80, CD19, MIR484, MIR503, CD1A, CAV2, MIR502, MIR367, MIR181D, METRN, ADORA2A, MIR429, ADORA3, MIR382, NOX5, MIR361, MIR216A, MIR215, ADAM33, FLYWCH1, MIR150, SESN2, CRISPLD1, ZNF484, ESYT3, AP2A2, KCTD10, MIR144, MIR130B, MIR214, SERPING1, MIRLET7I, KIF2B, SPZ1, KLF5, CNDP1, AKT1, DICER1-AS1, MIR18A, MIR182, MIR183, MIR190A, CALM1, RNF39, MIR208A, SETD7, CALCR, CALCA, MIR204, MIR200B, MIR20A, MIR19A, MIR197, ST6GALNAC5, MIR195, CACNA1C, APH1B, MIR192, MFRP, B2M, KLK1, CPA4, RYR3, HDLBP, HDAC1, HBG2, HABP2, RLN1, RPA1, RPN1, RPS3A, RRAD, GZMB, RRM1, RYR2, S100A7, GPER1, GSTA1, GSK3B, CXCL1, SCN5A, GRIK4, CCL4, GPX3, CCL13, CCL17, CCL18, CXCL6, CXCL11, RASGRF2, NRG1, HHEX, RAD51B, HMGA1, PRKCH, HMGB2, MAPK3, MAPK8, MAP2K2, PRKX, PRKY, PROC, PRS, LGMN, HLA-G, HLA-F, PYY, PSMD4, PSMD7, PSMD9, PTAFR, PTGER2, HLA-E, PTPN1, PTPN11, PTPRD, HLA-C, NECTIN2, GRK4, CXCR3, PRKAB2, TFAP2B, GHSR, STK11, SYK, TADA2A, TBXA2R, GFAP, GDF10, TCN2, GDF2, TERC, TERF1, TERF2, TFF1, SEMA3F, SERPINA3, TFR2, GCH1, TGFBI, THRA, TIAM1, TIMP1, TIMP2, TIMP4, TLL1, TLR3, GAS6, SST, TRIM21, SRY, SRF, SELENOP, SFRP5, SRSF1, SRSF2, SFTPD, ITSN1, ST6GAL1, GOLGA4, SIPA1, SKIL, SLC2A1, SLC2A4, GLUL, SLC12A3, SLC19A1, GLS, GLI3, GCLM, SMPD1, SIGLEC1, SOD3, SPG7, SPOCK1, SRC, CBLIF, PRKCD, PRKAB1, CRYZ, CYTB, CXCL9, ATXN3, IDO1, ILK, TNFRSF9, IL15RA, MSH2, MSR1, MSRA, MST1, MT2A, MTAP, IL13, NDUFAB1, MYO1F, MTNR1A, IL12B, RNR1, MVD, MYB, MYBPC3, MYD88, CXCR1, NAGLU, IL7R, NBL1, MFGE8, MET, MDM4, CD46, KRT8, LBP, LCK, KCNQ1, LCT, KCNMA1, JUP, IVL, ITGAM, FADS3, LMAN1, IRF5, IRF3, IRF2, IRF1, LSAMP, INSRR, LTBP1, LTC4S, SMAD1, SMAD2, MAG, MAP1B, MAS1, INSIG1, NCL, IL7, PRKAA1, PLA2G4A, PEPD, PF4V1, PGF, IFN1@, IRF8, SERPINE2, PIK3C2A, IARS1, PITX2, PKD1, PKP2, HSPG2, PLAU, NEU1, HSPB2, HSPA8, PLXNA2, PMAIP1, POMC, POR, HRG, HRH1, HPR, PPIC, PPP4C, PPP3R1, SLC26A4, PDGFRA, PDGFA, PDE3B, IL6ST, NHS, NOTCH1, NPPC, NPR1, NPR2, NT5E, NTF3, NTRK2, OGDH, OGN, IGFBP7, IGFBP4, OPRM1, ORM2, OTC, PCSK6, PAFAH2, IGFBP1, IGF2, PRKN, IFNGR2, IFNB1, PCSK1, CDK18, TM7SF2, GAPDH, TNFAIP6, HNRNPUL1, KRT5, LPAR1, EBNA1BP2, KCNQ1OT1, IL24, TOR1A, RIPK3, HBEGF, ABHD2, ESM1, DNTT, ADAMTS5, BTN2A1, CD93, CAPN10, FSTL1, DMPK, SLC2A6, ATXN2L, RNF13, TFEC, DIO2, DIO1, VASH1, DHCR7, SACM1L, FASTK, EDNRA, NPFFR2, EFNA5, MRVI1, NOD1, CPQ, SPAG11B, PRMT5, ENG, FST, CAP1, ANP32B, SLC35A1, MRPL28, AHSA1, ERLIN1, TXNIP, POSTN, MEGF8, CXCR6, EBP, NES, ZMYND11, ARPP21, MTHFD2, HSPH1, TUBGCP2, EGF, DFFA, ATF6, B4GALNT1, NXT1, SLC17A5, FETUB, B3GAT1, DKK3, CIDEB, PDCD4, APEX2, CTH, HTRA2, IGHD1-7, REM1, KLF15, MYLIP, CFD, CD274, SENP1, CSF2, CSF1R, EHD3, DUOX2, NOX4, IL22, F11R, CSF1, SOST, MAPK14, CTRB1, TES, CTRL, POLDIP2, KDM1A, DEFA3, DEFA1, DDIT3, CYP27A1, MPRIP, GPD1L, ABRAXAS2, DICER1, SIRT5, SIRT4, SIRT3, CYP2D6, CYP2C18, BRD4, ARL2BP, IL17RA, CYBB, ARIH1, RNF19A, CTSK, CTSG, SH2B1, CTSB, APPL1, TNIP1, LANCL1, RAMP3, MMP23B, SCG2, ST8SIA4, FGF2, AIMP2, GHS, FER, MIA, KDM5D, USP9Y, FEN1, FCN1, RGS5, FCGR2B, RAMP2, TP63, RTCA, AOC3, FCGR1B, NUMB, IRS2, VAMP8, BECN1, GALNT4, S1PR4, TNFSF13, TNFSF10, IL1R2, BSND, FGG, ZNF217, TNNT2, G6PD, FUT3, CRISP2, TRAF5, FUS, TRPC3, TRPS1, TTR, TNFRSF4, TYMS, UBC, UCP3, COL14A1, MTOR, FOS, FLOT2, VLDLR, BEST1, FOXO3, WNT3, WNT5A, FOXO1, ZAP70, ZNF208, TNFRSF11A, CREG1, IL18R1, CHD1L, EZH2, EIF4A3, EXTL3, ELMO1, MFN2, MAFB, ERCC5, FGF19, CCS, CASP8AP2, ABCB6, PQBP1, ERCC1, G3BP1, EBI3, HNRNPA3P1, ATP6AP2, LPCAT3, WASF2, SORBS3, MPHOSPH6, CALCRL, MPZL2, EPRS1, RABEPK, PRORP, F9, CES2, GAL3ST1, CCN4, FCGR1A, CPNE3, AP1S2, MBD2, WASF1, HSPB3, TRPA1, FCGR2C, RGN, IL1RL1, ARHGEF2, XPR1, IL32, CD163, GLP2R, FAAH, TGFBRAP1, GRAP2, FAM189A2, HAND2, ATG5, ROCK2, ADAMTS4, ADAMTS1, SUB1

Lupus Wikipedia

Because of early recognition and management of SLE with immunosuppressive drugs or corticosteroids, [28] end-stage renal failure occurs in less than 5% [29] [30] of cases; except in the black population, where the risk is many times higher.

DNASE1, FCGR2B, PTPN22, PDCD1, TREX1, IFIH1, TNIP1, IL10, HLA-DRB1, BANK1, ETS1, IRF5, ITGAM, BLK, STAT4, C4A, CTLA4, TNFAIP3, CR2, C1QA, PXK, JAZF1, RASGRP1, TNFSF4, C4B, PRDM1, DEF6, HLA-DQA1, SPP1, FCGR2A, IRAK1, MECP2, UBE2L3, PHRF1, DNASE1L3, C2, SLC15A4, UHRF1BP1, CLEC16A, C1R, RASGRP3, KIAA0319L, FAS, C1S, IL21, CFB, TLR5, FCGR3B, IL4, CAT, CRP, PRL, IL6, ATG5, IKZF1, NCF1, CLU, CD226, IL12B, IL21R, IRAK4, IKZF3, DNASE2, CSK, C1QB, LYN, PTGS2, SIGLEC6, TCF7, P2RY12, ANXA3, RO60, PCNX3, SH2B3, SYNGR1, TLR7, CD40LG, TERT, TNFRSF13B, CYBB, PTPRC, JAK1, SNRPD1, CDKN1A, TIMD4, JUNB, PPARG, LBR, GADD45A, BECN1, TRAF3IP2, RUBCN, ATG7, MAN2A1, INPP5D, RC3H1, PLD4, EP300, LTA, MIR196A2, POLB, IL2RA, CD40, RXRA, HLA-A, IRF7, MTA2, TYK2, CD247, FASLG, C3, RASSF5, IL23R, NCF2, HLA-B, ITGAX, BACH2, CD80, WDFY4, ELF1, TMEM39A, PRKCD, SYT1, GTF2IRD1, MSH5, MICB, ARID5B, LBH, TNXB, TNPO3, HLA-DMB, IL19, LRRK2, HLA-DQB2, JAK2, CXorf21, APOM, SKIV2L, CYP21A2, ITPR3, GLT1D1, AFF1, SERPING1, XKR6, TNFSF15, GRB2, PRRC2A, ENG, PTPN11, NFKBIL1, NMNAT2, NOTCH4, PNP, DRAM1, MPIG6B, DAG1, SMG7, MFHAS1, SLC5A11, HLA-DRA, HLA-DQA2, ERBB2, SMAD3, PEPD, BTNL2, LRRC18, COG6, ATXN2, CASP10, IL12RB2, ATG16L1, HCP5, GALC, FAM98B, MIF, LPP, HLA-DPB1, FCRL3, TNFRSF13C, GABBR1, HIP1, MBL2, MGAT5, LINC01845, GPR19, C1QTNF6, TPI1P2, AHNAK2, FAM86B3P, GPR35, LEP, LURAP1L, NR3C1, GEM, HLA-G, LCP1, IL1B, IFNA1, MUCL3, IFNA13, IFNG, PPP1R18, PSORS1C1, IL1A, IL1RN, HLA-DQB1, IL2, ITGAL, CXCL8, ISG20, IL17A, IL18, CXCL10, IFN1@, IRF8, SCAMP5, KIR3DL1, LAMC2, HLA-DRB9, ZFP90, HLA-L, HMGB1, SPPL3, RTKN2, ARMC3, PUSL1, RBM45, SAMD9L, SPRED2, ICA1, ICAM3, KIT, MMP9, PRKG1, ANKRD44, ANKRD30A, H2BC15, CDR3, KMT2D, NIN, NELFE, IGF2-AS, GPANK1, BAG6, ST8SIA4, EVI5, ZSCAN26, ZNF76, TIMMDC1, TLR8, TAOK3, DDX41, IL23A, VEGFA, VDR, CDHR5, TLR9, TPP2, TNFRSF1B, TNF, TLR4, KRT20, AHI1, FOXP3, MBL3P, IL22, CEPT1, TRIM31, ATXN2L, BTG3, EHMT2, CTRC, IKZF2, MASP2, TNFSF13B, TSBP1, ANP32B, KDM4B, FNBP1, HCG9, DDO, ADGRL2, ANKS1A, CRB1, KALRN, SKAP2, STK19, IL18RAP, CCDC113, ADAM15, TNFSF13, ZNRD1, BARX2, TGFB1, TRBV20OR9-2, TCP11, RNF39, ZSCAN31, SMYD3, ILRUN, PAPOLG, PLD2, PLCL1, PLAT, ABHD8, CENPU, ANKRD55, PBX2, SCUBE1, SLC44A4, ERAP2, VWA7, LY6G6C, NOTCH2, NOS3, OR5V1, OR12D3, FAM167A-AS1, ATRIP, MIEN1, PGBD1, NKD1, AP5B1, CARD9, MTOR, TCF19, CARMIL1, SUOX, STAT3, STAT1, SSB, TRIM21, SRI, SPINK1, NAT2, NADSYN1, SMPD1, SLC12A1, RNPC3, CCL2, MAPK1, ATXN1, RPS20, CAMK1D, ZMIZ1, RNF5, PRR12, RAD51B, RAB4A, PVT1, PRSS1, TRAPPC11, GPSM3, FUT2, BTN2A1, MS4A1, INS-IGF2, ARHGAP4, MIR155, IFNG-AS1, CD70, ALB, DGKQ, DARS1, ACE, HCG18, SFTA2, FCGR3A, ESR1, CD19, DECR1, CDKN1B, LINC01250, MUC21, HCG17, IL12A-AS1, SCARB1, LINC00993, TSBP1-AS1, F3, APOH, TRIM26BP, LINC00243, CD28, IRF1-AS1, LINC01185, C1orf141, OR14J1, MIR146A, EPHB2, ATP6V1G2, STX17-AS1, MSH5-SAPCD1, EHMT2-AS1, CREM, LINC01088, MIR210HG, ACR, MIR21, SBK1, ZKSCAN4, ADCY7, LYST, HNRNPA1P1, RNU4-36P, CFTR, LINC01511, DNMT1, ABCF1, AP4B1-AS1, WAKMAR2, CALR, BTK, CR1, BCL2, CSNK2B, C8A, CREBL2, KLK3, CD44, F5, CCL5, PON1, ABCB1, CXCL13, GSTT1, CD27, SLAMF1, IL9, CAMK4, DNMT3A, IFNB1, CXCR5, CD22, TP53BP1, BCR, HPGDS, CD14, FLI1, ITGB2, HLA-C, EZH2, FAM167A, CD38, SH2B2, SERPINE1, F2, MTHFR, IL37, CFH, CD274, ICAM1, ICOS, AQP4, PTPA, CXCL12, SH2D1A, CD69, MAVS, MPO, LSM2, APOL1, CXCR4, CXCR3, SOAT1, KIR3DL2, HRES1, AIM2, NLRP3, TPMT, MFGE8, TRAF1, TLR3, TLR2, TAP2, P2RX7, HSPA4, ADIPOQ, GSTM1, VCAM1, PRKCB, TP53, GRIN2A, FCN2, IGHG3, HT, SNCA, TPO, TNFRSF1A, SNRNP70, CCR5, AGT, NFKB1, CD24, KIR2DS1, PPP2CA, IFI44L, CD244, TNFRSF17, MIR125A, REN, WG, HAVCR1, MBD2, MEFV, HSPA1A, APOE, MYDGF, HSP90AA1, SLAMF6, ANXA1, SOCS1, IFI16, PADI4, TBX21, LY9, PTX3, IFNL1, IL33, CYP2D6, PECAM1, PSMA5, CD46, OCA2, RPL17, JUN, LY6E, CD86, IL17F, SRSF1, FLII, CYP2B6, CYP1A1, S100B, CCR7, MBP, H4C15, ENAH, CSF2, SOD1, SELE, H4-16, TAP1, CD72, HAVCR2, PIK3CD, CST3, RFX1, SELL, LCN2, IGAN1, TG, LGALS3, IRF1, ARHGEF5, MICA, GPI, AHR, B2M, HDAC6, TAM, H4C9, FCGR1A, H4C1, H4C4, H4C6, H4C12, H4C11, H4C3, H4C8, SIRT1, H4C2, H4C5, H4C13, H4C14, MAP4K3, GTF2I, GZMB, AP5Z1, SPATA2, HSPA1B, ANXA6, FCGR2C, RPL17-C18orf32, TIMELESS, LILRB1, IL15, ADA, FOS, IL16, BDNF, XRCC1, GATA3, TNFRSF4, ACTB, PCNA, HDAC9, AMH, MIR326, H3P28, UBASH3B, LOC102724971, ARMH1, MNAT1, LOC102723407, HLA-DMA, EBNA1BP2, SAMHD1, TNFRSF11B, ARHGEF2, S100A9, PBX1, IL27, ISG15, FOXO1, GSTP1, ADAR, NOD2, RABEPK, LANCL1, GAS5, AKT1, GAS6, GRN, MBD4, PSMD7, SERPINA1, PLG, PIK3CG, KLRK1, PIK3CB, PIK3CA, SLAMF7, NLRP1, CBLIF, ATN1, CIITA, KLRC4-KLRK1, SDC1, IFIT1, MIR150, TP63, CD180, ZAP70, IFNAR1, IL12A, SYK, IFNAR2, SELP, LGALS9, SIGLEC1, RPSA, IL10RA, KIR2DS2, VWF, CASP8, EGR2, C1QC, MDM2, CAMP, MIR142, TNFRSF6B, IRF3, TREM1, IL17D, PARP1, HSP90B1, SEMA3A, GORASP1, STAT5A, PRF1, ROBO3, SERPINB2, PSIP1, STAT5B, GDE1, RUNX1, LILRA3, CASP1, TRAF6, UBASH3A, TGFB3, WNK1, PSS, CCR6, GGCT, CASP3, C4B_2, TNFRSF8, UPK3B, CDR1, TNFSF10, DDX58, AICDA, IL18R1, IGHV3-52, CDK5R1, PELI1, PDLIM7, APCS, S100A8, CCL3L1, MTMR3, SOCS3, APOA1, TPI1, CD48, RELA, REL, F11R, CDKN2A, SNRPA, EBI3, BCHE, SERPINB3, SLC22A4, SLC6A2, TNFSF12, SIGIRR, HNRNPDL, HAMP, TNFSF11, PLAAT4, OASL, COX8A, CXCL16, KLRC1, CFHR5, HLA-DRB5, EMB, IFNA2, HLA-DOA, SLCO6A1, GCK, FOSB, KIR2DL5B, MX1, HIF1A, LAIR1, DNMT3B, KLRC2, HGF, MIR34A, NFKBIA, STING1, IL6R, IFNA17, IFNGR1, MAP1LC3B, IL4R, ITPA, ARID3A, IFI6, XRCC6, MRC1, CLEC4C, JUND, IFIT3, ELOF1, CTNNB1, EPHB1, HNRNPC, CGAS, PDCD1LG2, EFNA2, HP, CYP21A1P, IL13, LGALS3BP, ELK3, FCER1G, LGALS1, LEPR, EGFR, CREB1, OAZ1, CSF1, EGR3, BTLA, GCHFR, CDCA5, ESR2, GSTK1, LDLR, IFNL3, HSPA2, RMDN3, CD1D, ZPBP2, ERN1, KLRD1, IER3, KRAS, LBX1-AS1, BIN1, SMUG1, STAT2, ROCK2, SHOC2, IFNK, CFHR1, MIR31, ATF7IP, NR1I3, H1-0, SYBU, MIR17HG, ABCD1, GIMAP5, ERVK-20, SLC6A4, CD84, SLC11A1, SLC19A1, BMS1, FBXW7, RMDN2, RMDN1, CHAF1B, IKBKE, NR1I2, SNRPB, SNRPC, SEC14L2, LAG3, SOD2, CD4, SP1, SPG7, CCR2, KIR2DL2, CASR, SLEB4, E2F1, TRAF2, MIR22, TRPC6, TRPM2, TSPO, PWAR1, MIR483, EIF4E, XPR1, HRAS, MANF, AIRE, IL34, IL7R, ELANE, MIR126, EDN1, SGSM3, KLF13, MIR200A, CXCR2, VIP, VPREB1, IL10RB, MIR20A, WIPF1, TNFRSF9, XRCC3, HMOX1, HLA-DRB4, MIR223, C5, HLA-DRB3, NEAT1, ADAM17, SS18L1, MIR29B2, CRBN, ZEB1, KIR2DL3, CAST, CNOT8, NR1H4, KIR2DL1, TGFB2, KDR, CD163, LAP, THBS1, CALM3, TIMP1, MIR29B1, EIF4EBP1, CALM2, CALM1, F2RL1, F2R, CYCS, BCL6, ITGB1, TSC22D3, IL32, LGALS8, MIR19B1, TNFSF12-TNFSF13, IL20, NFATC2, ARR3, ADAM10, PRKAR1A, PLA2R1, PRKCA, CECR, CEBPB, CNOT7, IFNGR2, CD52, NCAM1, SLC39A8, VSIR, EIF2AK2, SEMA7A, ERVK-6, GABPA, IFI44, MYD88, DKK1, MASP1, MTR, LPA, SRCIN1, MIR148A, LOC107987479, NR0B2, PTEN, NFE2L2, PPARD, TNFRSF25, IL24, TNFSF9, CREBBP, DEFA1A3, PF4, PGF, AR, IFI27, FN1, SLC52A2, ACACA, ENO1, ERVW-1, NOTCH1, NOS2, CFHR3, PLA2G1B, NM, CCR4, CCR1, NHS, CLTA, IL25, CXADRP1, HSP90AB1, NGF, TNFRSF14, PON3, ACP5, POU4F1, MIR663A, TRIM38, LILRB4, RPS19, TRAP1, MAP4K1, SLC12A9, ABCA1, MDGA2, HTR1A, ICOSLG, CD276, PRRT2, S100A10, RIPK1, S100A12, CORO1A, CXCL9, CHAF1A, CD33, CYP2C19, CCL3, P2RY2, CYP2E1, P2RY1, MDK, RETN, VGLL3, DBA2, CYP3A5, CX3CL1, TIRAP, MIR181A2, G3BP1, MMP2, NT5C1A, IFNLR1, MERTK, PTPN2, PTPN6, ADM, RIPK3, ZNF423, CD74, MT1G, AGER, POTEF, KDM6B, LILRB2, RAG2, ATG16L2, SLEH1, TBC1D9, IGF1, MIR302D, MPL, MIR15B, RFC1, HFM1, CXADR, KIR2DL5A, RNASE2, TRIM13, ENTPD1, AGTR1, GNAO1, EPO, CENPV, PYCARD, IGHV3OR16-7, IGHV4-34, SETD2, TIGIT, LAMTOR2, IGHV3-69-1, MIR145, CCDC22, PRSS55, IGHV3-7, DLL1, IGKV3-20, TRIM39-RPP21, ULBP2, CABIN1, RBMX, FCRL6, LINC01193, LOC110806262, IL31, ATF6, H3P44, P2RX2, IRGM, AGBL3, PCSK9, TSPAN33, CIC, SUMO4, MPRIP, PHLDB1, NBEAL2, H3C15, MALAT1, LINC02605, PUF60, LCE3B, FSTL1, USP17L2, TREX2, ENHO, POLG2, PADI2, PTGDR2, H3P47, TICAM2, LCE3C, H3P23, PDAP1, TUSC2, SYNPO, H3P8, PERCC1, CCL4L1, TMED10P1, RNF19A, CNTNAP2, POLDIP2, THRIL, ARL5A, PHGDH, ERAL1, EHF, FGF22, LAT, DKK3, IL17B, PDCD4, CNTN6, ADAMDEC1, SGMS1, SLEN3, PRDX5, COTL1, SPDEF, TREML4, KCNH4, USP17L9P, APOA1-AS, BRD4, SEC61G, RSPO1, KLK9, MTREX, MLKL, ZSCAN1, LAMA1, LOC102723971, MILR1, FLRT2, CRYGEP, RIPK4, TBK1, CTHRC1, SCYL1, KIDINS220, CREB3L1, SIGLEC12, USP17L26, PDP2, MRTFA, NBDY, BAGE3, TUBA1C, TRIM63, SPZ1, USP17L25, USP17L24, IL1F10, DEFA1B, NLRC4, HIVEP3, RFH1, ABHD6, RNF185, SLC7A9, SPHK2, SIRPG, CHST12, NLRP2, WDR11, RNF114, EIF2AK4, ALG1, CCL28, BDH2, DNER, USP17L28, BMS1P20, DUSP22, USP17L27, ACKR3, ORMDL3, SLURP1, MUC16, HRH4, MIR654, RPAIN, ZNF419, COL18A1, RNF128, MUL1, TNFAIP8L2, DHX40, VTCN1, UCA1, POU5F1P4, MT1IP, AHNAK, FBXO31, CAMKMT, SLED1, SCD5, NAA25, TSGA10, ZC3H12A, POU5F1P3, RSPH6A, MIR499A, MIR448, CLEC7A, ANO3, MIR633, SH3BGRL3, MIR629, MIR621, DOCK8, ARHGEF28, HNP1, EBF2, MIR525, MIR551B, SLEB3, SNORA12, MIR451A, H3C13, UNC93B1, VKORC1, MIR410, IMPACT, IL22RA2, HILPDA, LARP6, PLB1, MZB1, NT5C3A, C1RL, LINC00513, CASP12, TNFRSF12A, WNT16, NCKIPSD, LINC01672, TMC8, IGLL5, RTRAF, SF3B6, ACSL5, MIR203A, ZNF688, MIR3148, LRP1B, MIR198, EGFL7, MIR196A1, CBLL2, SLEN2, SLEN1, DUOX2, MIR152, MIR5003, MIR5100, ERVW-4, ASAP1, MIR17, MIR183, CLEC4A, IBD5, EXOSC3, ERVK-15, TMED7, GAL, P2RX5-TAX1BP3, ZSWIM2, GPR84, MIR3074, DUOX1, MIR34B, MIR939, MIR873, TRIM68, RBM23, HOTAIR, MTPAP, SIGLEC14, ARL8B, RAVER2, SLC52A1, MIR34C, MIR93, USP17L30, USP17L29, NUDT15, MIR98, DDX19A, LRG1, C20orf181, EARS2, MIR210, TERF2IP, MIR221, OR2AG1, MIR224, NEK7, TMED7-TICAM2, MIR1279, MIR23B, MIR27A, DDIT4, MIR30A, XAF1, DOCK11, H3C9P, DEFB4B, KCNH8, DUSP23, TTC34, H3C14, NAT1, SPI1, RPP14, IGKV@, AGFG1, HPRT1, HNRNPD, HMGN2, HMGN1, HLX, HLA-H, HLA-DPB2, HLA-DPA1, HELLS, HDAC1, HCRT, HCLS1, HCFC1, H2BC5, HES1, HSD11B1, HSPA1L, IFNA5, CCN1, IGFBP3, IGFALS, IGF1R, IGBP1, IFNR, CFI, HSPA5, ICAM4, HSPG2, HSPE1, HSPD1, HSPB2, HSPB1, H2AX, MSH6, GSTM2, FCGRT, FOXO3, FOXJ1, FOXC1, FH, FGF2, FEN1, FCER1A, FLT1, FCAR, FAP, FANCB, PTK2B, ACSL4, F12, FLNB, FLT3, GSN, GCG, GRIN2B, GPX4, GPT, GPER1, GLO1, GFI1, GC, FLT3LG, GBP2, GAPDH, GABRP, FYN, FPR1, FMR1, JCHAIN, IGLV@, F8, IL1R1, MOG, MMP12, MMP11, MMP7, MMP3, MMP1, FOXO4, KMT2A, MFAP1, MEF2D, MEF2A, MCL1, MBNL1, MAGEB2, SMAD7, MPP1, MRE11, ABCC1, MT1L, MTRR, MTNR1A, COX1, ATP6, MT2A, MT1X, MT1M, MSN, MT1JP, MT1H, MT1F, MT1E, MT1B, MT1A, LYZ, LUM, LTK, IRF2, KCNA3, ITGB3, ITGAE, ITGA2, IRF6, IRF4, IRAK2, KIR2DL4, INSRR, IDO1, IL12RB1, IL7, IL5, IL1RAP, KIF5A, KIR2DS3, LMNA, LAIR2, LIG4, LCT, LCP2, LCK, STMN1, LAMC1, AFF3, KIR2DS5, L1CAM, KRT8, KRT1, KNG1, KLRB1, KLK1, F10, EVPL, HNRNPUL1, CETP, KRIT1, CBLB, CBL, RUNX1T1, RUNX2, CASP9, CASP6, CAPG, CALCR, C6, C5AR1, BTF3P11, KLF5, BST2, BSG, CCND3, CCT, CCT6A, CD63, CDKN1C, CDK6, CDH13, CDK1, CDA, CD79B, CD58, CD2, CD36, CD34, CD8B, CD8A, CD5L, CD3E, DST, BMPR2, BID, ADD2, AMPD2, AMELX, ALOX5AP, AHCY, AGTR2, ADRB3, ADARB1, ANXA5, ACTN4, ACP3, ACP1, ACHE, ABL1, ABCA2, ANXA2, APOA4, BGN, ATF3, BGLAP, BCYRN1, BCKDHB, BAX, AXL, ATM, SERPINC1, APOB, ASS1, ARSF, ARSA, ARHGDIB, ABCC6, APRT, CDKN2C, CTSC, ETS2, CGB3, S1PR1, TYMP, EBF1, E2F2, DUT, DUSP4, DTX1, DPP4, DXO, DNTT, DNM1, DMBT1, DLAT, DHFR, DEFB4A, EDNRA, EEF1A2, EFNA5, EMP1, ERV3-1, ERG, ERCC2, EPHX2, EPHX1, EPHA3, MARK2, EIF4EBP2, ELK1, ELF4, ELAVL1, ELAVL2, SERPINB1, EIF4G1, DEFB1, DEFA3, DEFA1, CNR2, CRK, CRH, ATF6B, CP, COMT, COL11A2, CNN3, CRYGD, ABCC2, CMKLR1, CLIC2, CISH, CHRM3, AKR1C4, CRYGC, MAPK14, DHX9, CX3CR1, DDX6, DDT, CYP24A1, CYP19A1, ADAM3A, CYBA, CTSS, CSF3, CTSK, CTSE, CTSB, CTRL, CTBP2, CSF3R, MTX1, GADD45B, MYO9B, SEMA5A, EIF3C, AOC3, HSD17B6, USO1, SCARF1, FCN3, API5, PIK3R3, DHX16, RECK, TAGLN2, PLA2G6, H2BC17, H2BC4, H2BC10, DGAT1, ABCC3, MBTPS1, PROM1, H2BC11, SNURF, EIF2B5, SQSTM1, ASAP2, KAT2B, SOCS2, TNFSF14, HESX1, TNFRSF10B, TNFRSF10C, TNFRSF18, SIGLEC5, RIPK2, H2BC6, H2BC7, H2BC8, UCP2, EZR, VHL, UVRAG, USF1, UMOD, SCGB1A1, UCHL1, VTN, TYRP1, TYROBP, TYR, TYMS, TXNRD1, CRISP2, VIM, XIST, EOMES, USP7, TMEM187, SMC1A, PDHX, AIMP2, LST1, DDX39B, IL1R2, XRCC4, LAPTM5, MZF1, YWHAZ, YWHAB, YY1, XRCC5, HSPB3, PRC1, NBN, SLC7A7, AHSA1, PROCR, RNASEH2A, ZNRD2, NXF1, IRF9, TRIM22, MAEA, STUB1, CDK2AP2, TRIB1, KLRG1, DDX39A, PSME3, CEBPZ, CELF2, DCTN6, B3GNT2, YWHAQ, ADAMTS13, PIM2, LILRA2, LILRA1, SDS, TMED10, SUB1, CCR9, PAPOLA, JTB, MRPS30, C1QL1, CFHR4, CD3EAP, PTPRU, NR1H3, BCL2L11, AIMP1, GRAP2, LONP1, KLF4, CD83, MED14, STK17A, MSC, NCR1, PTTG1, FCMR, DEDD, OSMR, ATG12, P2RX6, NCR2, GSTO1, SCO2, SETD1A, RABGAP1L, DDX46, FCHSD2, ZEB2, RAPGEF5, RASSF2, DCAF1, EIF2AK3, KLK4, IER2, CCL4L2, MACROH2A1, RAB3D, TBPL1, TOP1, ICAM5, TIMP3, THY1, POU5F1, POU4F2, POU2AF1, PON2, PML, PLXNA2, PLSCR1, PLA2G2A, PIN1, PIM1, PIK3C2A, PIGF, SLC25A3, PGM1, PGK1, MED1, PPBP, PPIA, PRLR, PSMB6, PRTN3, PRPS2, PROS1, PRODH, PROC, MAP2K1, PRKAA1, MAPK3, PRKDC, PRKCQ, PRKAR2B, PRKAB1, PRKAA2, PFDN5, PDGFRA, PDE7A, NOS1, OAS1, NUP98, NTRK1, NT5E, NPPA, NPY, NFIL3, OGG1, NF1, NEU1, NEDD9, SEPTIN2, NDUFS4, NCL, OAS2, CLDN11, PDE3B, PAK3, PCSK1, PC, PAX5, PRKN, PAPPA, REG3A, PAH, OXA1L, FURIN, P4HB, P2RX5, P2RX4, P2RX3, P2RX1, PSMB9, PSMD4, PSMD9, SLC2A1, SMN1, SLC22A2, SLC8A1, SLC6A8, SLC4A1, SLC2A4, SLC1A7, SMS, SLC1A5, SKP2, SHBG, SH3BP2, SGK1, SFTPD, SMN2, FSCN1, SET, SUV39H1, THM, THBD, THAS, TGM2, TMBIM6, TAGLN, STAT6, SNRPN, SSRP1, SRP54, SRP19, SPTAN1, SPN, SOS1, SRSF5, SDC2, PSMD12, RAD52, RELB, REG1A, RASGRF1, RASA1, RAG1, RAF1, MOK, RET, NECTIN2, PVR, PTN, PTK2, PTGS1, PTGDS, RENBP, TRIM27, XCL1, SCO1, CCL21, CCL20, CCL19, CCL17, CCL14, CCL4, S100A1, RLN2, RSU1, RPS27A, RPS6, RPLP0, SNORA73A, ABCE1, H3P10

Lupus Mayo_clinic

Overview Lupus is a disease that occurs when your body's immune system attacks your own tissues and organs (autoimmune disease). Inflammation caused by lupus can affect many different body systems — including your joints, skin, kidneys, blood cells, brain, heart and lungs. Lupus can be difficult to diagnose because its signs and symptoms often mimic those of other ailments. The most distinctive sign of lupus — a facial rash that resembles the wings of a butterfly unfolding across both cheeks — occurs in many but not all cases of lupus. Some people are born with a tendency toward developing lupus, which may be triggered by infections, certain drugs or even sunlight.
Systemic Lupus Erythematosus Medlineplus

Systemic lupus erythematosus (SLE) is a chronic disease that causes inflammation in connective tissues, such as cartilage and the lining of blood vessels, which provide strength and flexibility to structures throughout the body. The signs and symptoms of SLE vary among affected individuals, and can involve many organs and systems, including the skin, joints, kidneys, lungs, central nervous system, and blood-forming (hematopoietic) system. SLE is one of a large group of conditions called autoimmune disorders that occur when the immune system attacks the body's own tissues and organs. SLE may first appear as extreme tiredness (fatigue), a vague feeling of discomfort or illness (malaise), fever, loss of appetite, and weight loss. Most affected individuals also have joint pain, typically affecting the same joints on both sides of the body, and muscle pain and weakness.
Systemic Lupus Erythematosus Omim

In 1 SLE patient who exhibited lymphadenopathy, they found an 84-bp deletion within exon 4 of the FASL gene, resulting in a predicted 28-amino acid in-frame deletion (see 134638.0001).

Group B Streptococcal Infection Wikipedia

An exam of the cerebrospinal fluid is often necessary to rule out meningitis. [5] [28] [29] Colonization with GBS during labour is the primary risk factor for the development of GBS-EOD.

TNF, IL1B, COX8A, CABIN1, PTGS1, PTGS2, CXCL6, VIM, YWHAZ, AIMP2, SELENBP1, GRAP2, AHSA1, TUBGCP2, CADM1, MAPK1, FTSJ1, RNF19A, POLDIP2, SIGLEC9, ISYNA1, FTSJ3, RBM45, PLB1, MIR155, SIGLEC14, OCLN, MAPK8, PRKD1, CRK, PLG, MAPK14, FCGR2A, FOLH1, GOLGA4, CXCL1, CXCL2, HLA-DRB1, HSPD1, IL4, IL6, IL10, IL18, ITGAL, ITGB2, LEP, NR3C2, COX1, COX2, NOS2, NOS3, NPPB, PKD1, PLA2G1B, MTCO2P12

Acute Kidney Injury Wikipedia

Each year, around two million people die of AKI worldwide. [26] AKI develops in 5% to 30% of patients who undergo cardiothoracic surgery, depending on the definition used for AKI. [27] If AKI develops after major abdominal surgery (13.4% of all people who have undergone major abdominal surgery) the risk of death is markedly increased (over 12-fold). [28] Kidney function [ edit ] Depending on the cause, a proportion of patients (5–10%) will never regain full kidney function, thus entering end-stage kidney failure and requiring lifelong dialysis or a kidney transplant .

GFER, B2M, HMOX1, HP, EGFR, HBEGF, NQO1, HAVCR1, LCN2, TLR4, MPO, NFE2L2, BAX, CLU, SIRT1, NOS3, ATP5F1B, NPPA, PPARG, C3, SLC22A12, GSTM2, GSTP1, IFNA2, GSK3B, PLG, POMC, VEGFA, HSPA1A, HPX, FSTL1, SPP1, RAPGEF3, SOD1, IGF1, HEXB, HBG2, GSTA1, GPNMB, NOS2, TTR, LRP2, NFKB1, TGFB1, MTHFR, TFF3, THBD, TLR2, ORM1, TNF, TP53, SERPINA1, TF, KNG1, KLK1, INS, IL10, IL6, IGFBP1, A2M, SLC11A1, MIR215, CP, CCR5, MIRLET7I, CD44, MIR10A, MIR122, MIR140, MIR143, BDKRB2, MIR148A, MIR192, MIR23A, CST3, MIR25, AVP, MIR30A, MIR30D, MIR99A, AMBP, MIR146B, ALB, OCLN, AHSG, AFM, GC, UOX, CYP2C19, G6PD, EPO, EPHX2, CYP2C9, UGT1A9, TNFRSF12A, UGT1A1, EDN1, GAS6, IL20, AMN, SLC22A24, CYP2D6, PROCR, FIS1, SLC22A2, WNT4, NES, TGFA, EGLN1, MIR26A1, HDAC5, HDAC3, XDH, MFN1, SCGB1A1, EGLN3, SLC22A1, LGALS3, AVPR1A, MTOR, BAD, HIF1A, BCL2, BCL2L1, GSR, CAPN1, UTS2R, GOT2, GATM, FN1, HES1, CASP1, FGA, EPAS1, EGF, ECE1, DDIT3, ACE, CYP27B1, CDKN1B, CRP, CYP2E1, ARG2, MET, RB1, PTGS2, PTGER4, PTAFR, ALAD, ALOX5, PKD2, NPPB, NOS1, NDUFB8, ANXA1, ARG1, MB, ADRB2, IL1B, IGF1R, AR, ICAM1, HSPA8, CACNA1S, CFB, CCND1, SAA1, LPIN1, STOX1, HPRT1, HNF1B, TCN2, CD46, CFI, TRIM25, DGKE, HNF4A, FLT1, CFHR1, CORIN, CFH, SLC26A1, CFHR3, RYR1, HELLPAR

Olfactory Reference Syndrome Wikipedia

Therefore, in persons with genuine odor complaints, the distress and concern may typically be out of proportion to the reality of the problem. [6] Genuine halitosis has been described as a social barrier between the individual and friends, relatives, partners and colleagues, and may negatively alter self-esteem and quality of life. [26] Similar psychosocial problems are reported in other conditions which cause genuine odor symptoms. [27] [28] In the literature on halitosis, emphasis is frequently placed on multiple consultations to reduce the risk of misdiagnosis, and also asking the individual to have a reliable confidant accompany them to the consultation who can confirm the reality of the reported symptom.

Spermatogenic Failure, Y-Linked, 2 Omim

By in situ hybridization with 3 different Y-specific DNA probes in a 28-year-old azoospermic male, Chandley et al. (1989) demonstrated a de novo deletion at Yq11 that resulted in loss of all distal heterochromatin.

DAZ1, RBMY1A1, TSPY1, USP9Y, DDX3Y, DAZ3, DAZ2, DAZ4

Partial Chromosome Y Deletion Orphanet

Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility. Epidemiology Estimated prevalence is 1/2500. Etiology Five to 10% of cases of azoospermia (absent sperm) or severe secretory-type oligospermia (<1 million spermatozoa/mL semen) are associated with microdeletions in the euchromatic portion of the Y-chromosome long arm, at the AZF locus (Azoospermia Factor). Several subregions are distinguished in the AZF locus. In this region, the structure of the Y-chromosome is rich in repeated palindromes and recombination between two flanking sequences sharing a high degree of homology leads to various deletions: 1) AZFa deletions (recombination between the sequences HERV15yq1 and HERV15yq2 ); the rarest - ii) AZFb or P5/proximal-P1 deletions, iii) AZFb+c deletions, of which two types are distinguished: P5/distal-P1 or P4/distal-P1 and iv) AZFc deletions caused by recombination between palindromes b2 and b4. Diagnostic methods Diagnosis is made on the basis of azoospermia or oligozoospermia in otherwise healthy males after exclusion of other causes of infertility.
Y Chromosome Microdeletion Wikipedia

Y chromosome microdeletion (YCM) is a family of genetic disorders caused by missing gene(s) in the Y chromosome . Many men with YCM exhibit no symptoms and lead normal lives. However, YCM is also known to be present in a significant number of men with reduced fertility . [1] Men with reduced sperm production (in up to 20% of men with reduced sperm count , some form of YCM has been detected [2] ) varies from oligozoospermia , significant lack of sperm, or azoospermia , complete lack of sperm. Contents 1 Cause 2 Diagnosis 3 Infertility 4 See also 5 References 6 Further reading Cause [ edit ] The mechanism of mutation is not different for Y-chromosome microdeletion. However, the ability to repair it differs from other chromosomes. The human Y chromosome is passed directly from father to son, and is not protected against accumulating copying errors, whereas other chromosomes are error corrected by recombining genetic information from mother and father. This may leave natural selection as the primary repair mechanism for the Y chromosome.
Spermatogenic Failure, Y-Linked, 1 Omim

A number sign (#) is used with this entry because Sertoli cell-only (SCO) syndrome has been found to be associated with interstitial deletions in the 'azoospermia factor' (AZF) region on the long arm of the Y chromosome, particularly deletions of the AZFa region, which includes the ubiquitin-specific protease 9 gene (USP9Y; 400005), the DEAD/H box 3 gene (DBY; 400010), and the ubiquitously transcribed tetratricopeptide repeat gene (UTY; 400009). Description In the evaluation of male infertility, the Sertoli cell-only (SCO) syndrome is diagnosed on testicular biopsy when either no germ cells are visible in any seminiferous tubules (SCO type I) or germ cells are present in a minority of tubules (SCO type II). It is believed that the latter variant arises from a failure to complete differentiation and maturation of spermatocytes and spermatids, leading to degeneration of germ cells within most tubules (Sargent et al., 1999). Another, possibly X-linked, form of Sertoli cell-only syndrome has also been reported (305700). Heterogeneity of Spermatogenic Failure See 415000 for a general discussion of the AZF region of the Y chromosome and Y-linked nonobstructive spermatogenic failure.

Hepatitis C Virus, Susceptibility To Omim

In further fine mapping of the region, 7 SNPs located in the IL28B region showed the most significant associations (P = 5.52 x 10(-28) to 2.68 x 10(-32); OR = 22.3-27.1).

Human Immunodeficiency Virus Type 1, Susceptibility To Omim

Rapid progression of less than 3 years from HIV-1 exposure to onset of AIDS symptoms in an estimated 38 to 45% of AIDS patients could be attributed to their wildtype status at one or the other of these loci, whereas the survival of 28 to 29% of long-term survivors, who avoided AIDS for 16 years or more, could be explained by a mutant genotype for CCR2 or CCR5. ... Variation in Genes Involved in Host Immune Response Carrington et al. (1999) reported that the extended survival of 28 to 40% of HIV-1-infected Caucasian patients who avoided AIDS for 10 or more years could be attributed to their being fully heterozygous at HLA class I loci, to lacking the AIDS-associated alleles B*35 and Cw*04, or to both.

AIF1, ZNRD1ASP, LRMDA, C4orf17, FBN3, MCM8, IGSF21, MOB1B, SMIM12, SLC26A7, MUCL3, TRPM6, CCBE1, TMC4, PSORS1C1, PLD5, ZBTB7C, TSSK3, RNF39, BICRA, SUGCT, ZNRD1, SNHG32, NTM, DNAJC27, REEP2, CCHCR1, SDK2, FANCL, CDCA7L, RNF130, PRDM10, C6orf47, GPSM3, FKBPL, COLEC11, DNAJC18, SPDYA, HCG27, AKNAD1, FAM229A, PSORS1C3, USP8P1, MICA, MUC22, ATP6V1G2-DDX39B, SPRY4-AS1, LINC01150, LINC00836, TSBP1-AS1, DISC1FP1, NTM-AS1, LINC02748, LINC02251, LINC02571, SNORA38, NBPF13P, ZNF704, SFTA2, SLC9A9, HCG22, LINC00298, LINC00299, SLC35F4, SH3RF3, LINC00937, CLEC18B, IQCA1L, MUC21, LINC00243, HCG18, HCG17, SLC2A1-AS1, KCNIP1, IL19, ALK, HLA-B, IL10, LTB, MICB, NOTCH4, OXTR, PBX1, PCNT, PIK3C2A, POU2F1, POU5F1, PPP1CB, RPS6KA2, RYR3, SKIV2L, ST14, HLA-DOB, HLA-A, C6orf15, GRM8, ARG1, RHOH, C2, DDR1, CAV3, CBS, CDSN, CREBBP, ATF6B, CYP3A4, CYP21A2, DCK, FGF1, GNL1, GRM5, TAP2, TCF19, TIAM1, TNF, MBNL2, TSBP1, HCP5, TRIM31, FRMPD1, NCBP2, CUX2, LARS2, KIAA1549L, ABTB2, NBEA, CNTN6, TRAV30, RGCC, TMEM230, TRIM10, CREB5, CYP7B1, DDX39B, TNXB, VAV2, ZNF90, MKRN3, TRIM26, PRRC2A, ABHD16A, MAGI1, NELFE, LST1, AKR7A2, CADPS, STX11, CCRL2, LINC02477

Hurler Syndrome Omim

Huang et al. (2015) studied the chorioretinopathy in 3 patients with MPS I. The first patient (28 years old) exhibited multifocal depigmented retinopathy in both eyes. ... Mutations were found in 18 patients, with 28 alleles identified. The 2 most common mutations in northern Europeans, W402X and Q70X, accounted for 11 and 13% of the alleles, respectively.

IDUA, IDS, ARSB, MAN2B1, HGSNAT, GNE, TTK, VPS33A, SGSH, RPS27, CTSA, GNPTAB, AGA, GNPTG, NEU1, SLC26A1, NAGLU, RINT1, KRAS, GUSB, GNS, MPEG1, FUCA1, FGFR1, SUMF1, GLB1, AFP, PHEX, NSUN2, TBX1, PHKG2, NME1, NBN, FUT1, CAT, ORI6

Mucopolysaccharidosis Type I Medlineplus

Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. This disorder was once divided into three separate syndromes: Hurler syndrome (MPS I-H), Hurler-Scheie syndrome (MPS I-H/S), and Scheie syndrome (MPS I-S), listed from most to least severe. Because there is so much overlap between each of these three syndromes, MPS I is currently divided into the severe and attenuated types. Children with MPS I often have no signs or symptoms of the condition at birth, although some have a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). People with severe MPS I generally begin to show other signs and symptoms of the disorder within the first year of life, while those with the attenuated form have milder features that develop later in childhood.
Hurler Syndrome Orphanet

Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy. Epidemiology The prevalence of the Hurler subtype of MPS1 is estimated at 1/200,000 in Europe. Clinical description Patients present within the first year of life with musculoskeletal alterations including short stature, dysostosis multiplex, thoracic-lumbar kyphosis, progressive coarsening of the facial features (including large head with bulging frontal bones, depressed nasal bridge with broad nasal tip and anteverted nostrils, full cheeks and enlarged lips), cardiomyopathy and valvular abnormalities, neurosensorial hearing loss, enlarged tonsils and adenoids, and nasal secretion. Developmental delay is usually observed between 12 and 24 months of life and is primarily in the realm of speech with progressive cognitive and sensorial deterioration. Hydrocephaly can occur after the age of two. Diffuse corneal compromise leading to corneal opacity becomes detectable from three years of age onwards.
Hurler Syndrome Wikipedia

Hurler syndrome Structure of dermatan sulfate , one of the molecules that accumulates in the lysosomes of Hurler syndrome patients Causes Deficiency of the alpha-L iduronidase enzyme Differential diagnosis Hurler-Scheie syndrome ; Scheie syndrome ; Hunter Syndrome ; other mucopolysaccharidoses Prognosis Death usually occurs before 12 years Frequency 1 in 100,0000 Hurler syndrome , also known as mucopolysaccharidosis Type IH ( MPS-IH ), Hurler's disease , and formerly gargoylism , is a genetic disorder that results in the buildup of large sugar molecules called glycosaminoglycans (AKA GAGs, or mucopolysaccharides) in lysosomes . The inability to break down these molecules results in a wide variety of symptoms caused by damage to several different organ systems, including but not limited to the nervous system , skeletal system , eyes , and heart . The underlying mechanism is a deficiency of alpha-L iduronidase , an enzyme responsible breaking down GAGs. [1] : 544 Without this enzyme, a buildup of dermatan sulfate and heparan sulfate occurs in the body. Symptoms appear during childhood, and early death usually occurs. Other, less severe forms of MPS Type I include Hurler-Scheie Syndrome (MPS-IHS) and Scheie Syndrome (MPS-IS). Hurler syndrome is classified as a lysosomal storage disease . It is clinically related to Hunter syndrome (MPS II); [2] however, Hunter syndrome is X-linked , while Hurler syndrome is autosomal recessive .

Solute Carrier Family 4 (Anion Exchanger), Member 1 Omim

Six SAO subjects and all 3 normal family members were heterozygous for the band 3 Memphis I polymorphism and one SAO subject was homozygous for this mutation. Spherocytosis Type 4 In a 28-year-old female with congenital spherocytic hemolytic anemia (SPH4; 612653), Jarolim et al. (1991) identified a missense mutation in the SLC4A1 gene (109270.0003).

Leigh Syndrome Omim

An assumption of autosomal recessive inheritance would have been wrong in nearly one-half of those in whom a cause was found: 11 of 28 tightly defined and 18 of 41 total patients.

ATP6, ND3, ND1, ND2, ND4, ND5, ND6, TRNK, TRNL1, TRNV, TRNW, NPTX2

Inflammatory Bowel Disease (Crohn Disease) 1 Omim

A secondary outcome was clinical response (defined as a reduction of 100 points or more in the CDAI score) at day 28. The proportions of patients who reached the primary end point were 55% and 65% for the 40-mg and 160-mg mongersen groups, respectively, as compared with 10% for the placebo group (p less than 0.001).

NOD2, HLA-DRB1, IL23R, IL10, IRGM, ATG16L1, TYK2, IL12B, STAT3, LRRK2, MST1, SLC22A4, PTPN2, FUT2, JAK2, TLR4, IL2RA, NCF4, BACH2, SMAD3, CCNY, ERAP2, CRP, NLRP3, SLC22A5, IFNG, DNMT3A, NKX2-3, PPARG, TNF, DENND1B, SLC11A1, IL6, LEP, TLR9, IGF1, CCL2, MTHFR, ADIPOQ, FN1, MUC2, FAM92B, PHOX2B, TAGAP, TCF7, FPR2, VTN, PPARA, NR1H4, GPBAR1, TNFRSF1A, PTPN22, TNFSF15, NFKB1, CD40, IL27, LACC1, HLA-B, STAT4, ZNF365, TNFRSF6B, NUDT15, NOS2, TNFAIP3, ATG16L2, AHR, CARD9, FOXO3, IL19, MUC19, PER3, SP140, CYLD, MLN, ZMIZ1, UBE2L3, PSMB9, BTNL2, POU5F1, HLA-DQB1, IL1R1, MAP3K8, ITLN1, IL6R, ATG5, IL18RAP, FCGR2A, IFNGR2, EPHB4, CDH13, CLEC16A, ZNF300, PLA2G4A, ERN1, PRKCB, KIF21B, ERAP1, GPR35, RSPO3, GCKR, PRKCQ, TAP1, NR5A2, ETS1, ITGAL, BSN, FCHSD2, PSTPIP1, PUS10, IRF6, CD6, FADS2, TRAP1, PRDM1, HGFAC, TNFRSF14, CD96, P4HA2, IL1RL1, SNX20, ZPBP2, RPSA, ICAM1, IL2, NR1I2, IL1RN, IL1B, OSBPL3, UQCR10, SKAP2, IL18, IGHM, IL18R1, ACAD8, IL37, TPMT, KSR1, ASAP2, IL23A, GPR65, TP63, FOXP3, RIT1, BRD2, ALDH5A1, RPS6KB1, VDR, IGF2-AS, TUBD1, IL9, CXCL8, ATXN2, DELEC1, IBD5, IMPG2, GATD3A, FCGR3A, IL17A, FEN1, IL22, CUL1, IL4, PNKD, CRB1, FIBP, GNA12, SCAMP3, TLR5, FNDC3A, PARK7, GPR18, ATXN2L, RASGRP1, GRK5, PKIG, CDC37, FGFR1OP, ADAM30, EBNA1BP2, TGFB1, RABEPK, CD226, RGS14, NOD1, GLYAT, SBNO2, SH2B3, STK11, KEAP1, GBAP1, SUOX, OSMR, TNIP1, TP53, SLC9A8, TNFRSF1B, ARHGEF2, MAGI1, DLG5, ADGRL2, LITAF, NPEPPS, CLCA2, TCTA, TBC1D9, SETD1A, TAB2, FNBP1, LANCL1, RDX, HDAC7, ZBTB38, SBSPON, FAM171B, TAB2-AS1, SLC39A11, HIPK1, JAZF1, FAM177A1, ARMH1, ADRA1D, CAVIN1, LURAP1L, UBAC2, TMEM258, MYRF, CMC1, CCND3, HORMAD2, CD14, CDAN1, LINC01620, GALM, TNFSF8, CD244, ZNF831, RAVER1, NRAD1, NXPE1, ANTXR2, RMI2, ABCB1, LINC02863, C17orf67, TEX9, RFT1, CRTC3-AS1, LINC02471, CCR5AS, APEH, NFATC1, RTEL1-TNFRSF6B, IFNG-AS1, AMT, LINC02213, LINC01475, LINC01250, LINC00824, LINC01147, ALB, TSBP1-AS1, SPATA48, PSORS1C3, INS-IGF2, SCARNA5, RHOA, LINC00598, NOS2P1, TRAF3IP2-AS1, ARSA, MIR3936HG, IRF1-AS1, C10orf55, NOTCH1, LINC02341, TEX41, LINC01185, C1orf141, XACT, LINC00993, ANKRD30A, INAVA, DAP, SLAIN2, ADCY7, SEMA6A, PSMD7, LINC02128, ACTA2, LYRM4, LRRK2-DT, CDC42SE2, SLAMF8, INKA2, ACO2, LTBR, FERMT1, MBL2, RIC8B, CELSR3, BANK1, NCF4-AS1, PPP2R3C, FAM118A, INTS11, CDKAL1, BCAS3, ELF1, UBASH3A, H3P28, RTEL1, LPP, DAG1, SMAD7, MAPK1, UBE3D, PLCL1, ZGPAT, NICN1, KIAA1109, ADCY3, SLC22A23, TSPAN14, NDFIP1, CREM, DOCK7, PLAU, VWA7, CPEB4, CTLA4, THADA, GAL3ST2, CLN3, TMBIM1, ANKRD55, NKD1, IFIH1, CSF2, CRTC3, CARD8, GP2, CEACAM6, MMP3, LTA, IL1A, LCN2, XIAP, HLA-C, IL13, PTGS2, MYDGF, MEFV, BPI, TLR2, RBM45, DEFB4B, IL33, DMBT1, DEFB4A, PTGER4, CCR6, MYO9B, PLA2G1B, NFKBIA, MMP9, ISG20, INPP5D, LYZ, CCL5, VIM, REG1A, JAK1, TRBV20OR9-2, KLRK1, CDKN2A, IL17D, IBD3, FKBP4, MIR31, DEFB1, IL21, HAMP, DECR1, TG, PON1, CTNNB1, GEM, DEFA5, SMUG1, KIR3DL1, TIMP1, SPP1, CD274, ATN1, ESR1, F9, CCR5, VIP, HSPA1B, IRF1, VEGFA, H3P13, KLRC4-KLRK1, IBD2, BCL2, HSPA2, MLH1, HSPA1A, XBP1, HNF4A, CDKN2D, IL17F, CX3CR1, COX2, CHI3L1, F5, MTCO2P12, TREM1, ECM1, ANXA1, ACCS, RAC1, ACSS2, IBD6, PAEP, DPEP1, MMP1, DEFA6, CCN2, TMEM201, NT5E, ACE, MNAT1, ORMDL3, PLA2G15, FCGR3B, STAT6, IL10RA, HSP90B1, HSPA4, IRF5, HMOX1, UST, EBI3, TGFB2, CCR9, GH1, ICOSLG, ADAM17, GCG, NLRP1, SOAT1, CCL20, SGSM3, DUOX2, SLCO2A1, CXCL12, MUC5AC, MIR19B1, RELA, ABCG2, P2RX7, CD163, MIR122, RIPK2, NOS1, TLR8, SH3GL1, CD24, MICA, ULK1, MADCAM1, CDR3, IBD4, SERPINA1, OPTN, PART1, PRTN3, TACR1, SLC39A8, TCF4, TCF7L2, IL25, REG4, TFF3, CCL11, IL26, SLC15A1, TIMP3, PI3, TLR1, TRAF3IP2, CUZD1, NAT2, CD28, CD19, IL13RA2, CASP3, ITPA, CYP3A4, ITGAX, HLA-DQA1, NR3C1, HLA-DPB1, DEFA1, MSH2, APC, IDO1, GSTM1, DPP4, MMP2, GSTT1, ENTPD1, HIF1A, HLA-G, CASP1, IL4R, IL6ST, MTOR, AGER, MAPK14, AGT, BCL3, ACP1, COMP, HERC2, CDK5R1, CNR1, IL12A, CCR7, IL11, BEST1, TSLP, FCRL3, USO1, CDX2, IL7, IL5, XPNPEP1, MTFMT, YWHAZ, CXCR4, CDCA5, AZIN2, AIMP2, CD86, CD40LG, VIL1, OR10A4, LINC01193, GADL1, KPNA1, C4B, ST14, STAT5A, STAT5B, KIR2DS1, KIR2DL3, SYT1, TAC1, KIR2DL2, MAP3K7, TAP2, TCN2, DOCK11, CAMP, TFF1, CASP8, CASP9, THY1, RUNX2, RUNX3, PLB1, INSRR, NR2C2, IRF8, DEFB104A, IL16, VCAM1, IDH1, MSC, TLR10, MARCHF1, ESR2, GCHFR, EPHX1, GHR, UGT1A1, DKK1, CXCR3, CREB1, GPER1, RASSF1, IMPACT, CD160, DSG2, CXCL1, SEC14L2, LY96, PANX1, F2, GAPDH, RNF19A, POLDIP2, NT5C3A, IL17C, FAAH, FAT1, FOS, FCGR1A, FLNB, FHIT, CD209, FCN2, IL24, GSTA1, DEFB103B, NR4A1, SOCS3, CRK, TNC, CLDN8, CLDN2, PDCD1LG2, CCL4L1, WNK1, CSF1, GRAP2, GORASP1, ARHGEF28, CSF2RA, CSF2RB, TRAF4, GUCY2C, MAGI2, HLA-DRB3, CXCL16, IL18BP, HLA-DPA1, HLA-A, CALCOCO2, DMD, EMSY, GZMB, RETN, GUSB, NXF1, AHSA1, SLC22A1, FGF7, MDK, CCL21, S100A9, PLA2G2A, MPZ, MICB, H3C9P, PLG, NPC1, PMP22, MIR375, CCL3L1, NOS3, SMAD4, MIR155, MIR146A, MST1R, ALPI, MIR21, PKM, LPL, DEFB104B, ATF3, RAP1A, PIK3CA, SERPINE1, APAF1, MMP10, PIK3CG, DEFB103A, MPO, CYP4F3, PIK3CB, PIK3CD, ANXA2, NR0B1, MMP7, SDC1, MIR125A, SELL, BGLAP, LINC02605, MAP2K1, PARP1, CCR2, CXCL5, RN7SL263P, DEFA1B, SLC10A2, MUC3A, ABO, LBP, ADA, UPK3B, LGALS3, CXADR, APOE, DNASE1, SUCNR1, MUC13, PANX2, VSIR, CYP26B1, LDAH, CTSS, KYAT3, DNMT1, CYP1A1, CST3, DNTT, FAS, FASLG, ZGLP1, NSFL1C, NFKBIZ, MIR1908, DBET, LXN, CHPT1, MIR1246, WDR19, IGAN1, IBD21, GNB4, ACE2, IBD22, CYP2J2, IBD15, CYP19A1, NLRC4, IBD23, MUC3B, CYP2D6, SLC28A3, IBD24, MEPE, DCC, LINC00994, APOA4, SCYL1, AICDA, DHPS, DLG1, CYP2A6, PGLYRP4, SLC12A9, IBD18, IBD27, IBD19, CYP27B1, THEMIS, LANCL2, TRIM33, RNF138, VTA1, LOC102723996, LOC102723971, AHSG, EZH2, GDE1, RTRAF, DRD2, GHRL, AIF1, ERBB4, ERBB2, EPHX2, AKT1, IL20RA, CHST15, CRNKL1, F2R, FKBP11, FGF2, ACACA, MBL3P, ASAP1, F11R, CLEC4A, STIN2-VNTR, ACAT1, ACTB, FAP, FABP5, ASCC1, AADAT, F13A1, ADORA3, EP300, ELAVL3, TERF2IP, ATG2B, MAP1S, RAVER2, OPN1MW3, STEAP3, EEC1, OCTN3, DSP, PSC, CCAR1, DSG1, DSC2, GSDMB, APOA1, OCLN, LRRC3C, EFNB2, ALPP, TOLLIP, EGF, KRT20, ALDH1A1, UGT1A7, ALOX5, TET2, DYM, ELAVL1, DEF8, DPP8, ELAVL2, ELANE, EGR1, EGFR, MEGF8, HEATR3, AOX1, HDAC11, CSF1R, ASXL1, IL34, CD300LF, MIR200A, CCND1, CD3D, CD1C, MIR196A2, KRIT1, KYAT1, MARVELD2, CBR1, MIR192, CLEC12A, MIR17, RUNX1, MIR16-1, IDO2, MIR200B, MIR203A, MS4A1, GPR119, MIR93, MIR320A, CD33, BCKDHA, MIR29B2, MIR29B1, SLCO6A1, MIR27A, PWAR1, MIR223, MIR215, MUC17, MACROD2, HT, CD80, C11orf40, PSORS1C1, CASR, CDKN2B-AS1, MIR15A, CELIAC2, CACNA1E, MIRLET7D, MIRLET7B, CLEC4D, TAS2R64P, FFAR4, CFB, CA2, CXCR5, C4A, BMP7, RSPO2, C3, NDUFS7, BRAF, TEPP, MIRLET7E, IBD9, SLC25A20, CALM3, NLRP11, MIR148A, MIR143, MIR142, VAMAS6, MIR141, IPMK, TAC4, MIR106B, FDCSP, CCDC88B, MIR126, CALM2, CALM1, GSDMA, CALCR, CD38, AXL, IL21R, CD44, ARG1, HNRNPA1P10, H3P37, NCF1, FCRL4, EIF2A, CXADRP1, MAGT1, COL11A2, COL7A1, COL3A1, IL1F10, COL1A1, HAVCR2, ARHGDIA, ARR3, SHANK3, NPL, ATF2, MIR532, CAMKMT, MARCHF7, RNA28SN5, SLC52A2, CORO7, SAP130, MORC4, EHMT1, NPSR1, MIR629, DHDDS, PROSER1, CRX, ULBP1, OPN1MW2, MUC5B, ARF6, MYLK2, ACKR2, POU5F1P4, CDH3, HNP1, CDKN1B, CDKN1A, PGLYRP3, ATG4A, CDH11, LRG1, RBMXL1, PRRT2, CDH1, WG, CDC42, CD69, FRG2, CD47, ATF4, MIR146B, EGLN3, ARRB2, CFTR, CCR3, CCR1, CLU, CHUK, ISX, MYLK3, CEACAM8, G6PC3, DEFA1A3, TMEM183A, HELB, REEP6, PGAP3, FOXP2, POU5F1P3, SFXN1, MUC4, GNAO1, FGFR1, SPN, LAMP2, LAMP1, LAMB1, KRT8, SLPI, KRT1, SOD1, SOD2, SPG7, SRC, SLC6A4, SST, STAT1, KNG1, KLK1, KIR3DL2, STK4, SYK, TACR2, KDR, SLC12A2, SLC1A5, KCNN4, LGALS4, VPS52, SAT1, LORICRIN, CLEC11A, FADS1, CCL4, LGALS9, CCL7, CCL8, CCL19, SHC1, LGALS3BP, CCL25, CXCL6, XCL1, CX3CL1, SFRP2, SFTPD, SGK1, LCT, KCNQ2, HNF1A, WNT2B, HSP90B2P, IRAK1, TNFAIP6, PDX1, CXCL10, TPM3, ING1, TRAF3, TRAF5, TRAF6, TRPC6, CLDN5, TWIST1, TNFRSF9, TYMS, UBE2I, VDAC1, IL15RA, IL15, IL12RB2, VIPR1, IRF4, ITGAE, KCNN1, JAK3, JUND, TCF21, TRA, TRB, AOC1, JUNB, TERF2, TFF2, JUN, ITGB3, ITGAM, TGFB3, TGFBR2, THBD, ITGB2, ITGB1, TKT, TLE1, ITGAV, TLR3, SAA1, S100B, S100A12, MIP, TNFRSF11B, OPRD1, ORM2, P4HB, PAFAH1B1, PCNA, PDCD1, PF4, PGA5, PIGR, NTF3, CXCL9, MIF, CD99, PLCG2, PLEK, PML, PNN, POMC, MGP, ODC1, NSF, S100A8, NFE2L2, MYLK, MUC1, MTX1, NEDD9, NELL1, NEU1, NF1, MTRR, NFATC2, NFIL3, NPR3, RNR1, MTR, NFKBIL1, NGF, NHS, NM, MT2A, NPY, NPR1, PON3, MGMT, MAP3K1, LRP6, PTPRJ, RAC2, MOK, RARA, PLAAT4, LTB, LTA4H, REG1B, REG1CP, RNASE2, MDM2, RNASE3, LOXL2, RNU1-4, ROCK1, RORC, RPGR, LOX, S100A1, S100A4, PTPRF, PTPRC, PTPN6, LTF, PPP1R1A, PRKAR1A, PRKCA, MCL1, MCAM, MAPK8, PROC, PROX1, MAT1A, PSEN2, PSMA7, PSMB6, MAS1, PSMB10, SMAD5, PTEN, PTGDS, SMAD2, PTHLH, VWF, XBP1P1, FH, KIF3A, TNFSF13B, CORIN, CERS1, MASP2, CCL27, HPSE, GSN, RIPK3, PRDM5, GRB2, UBD, GPX1, BAZ1A, WIF1, IRAK3, AKAP13, GPT, ECD, CBX3, MGLL, AGR2, KAT5, GOT2, HGF, MUC12, RAD50, LRPPRC, LPAR6, RCL1, TNK2, NME6, TRIM13, DDX39A, HFE, FBLN5, HDAC2, IGSF6, TRAIP, HBB, TLR6, TRIM22, HMG20A, MERTK, CLEC10A, GPR3, GOLGB1, XDH, RABGEF1, PARM1, GALNT2, FUT3, NAT9, FRG1, RNU1-1, CPAMD8, FOSL2, HPGDS, FOSB, GART, SLCO3A1, TRBV10-1, TRBJ2-7, CLEC2D, USP25, CARD10, FKBP5, MDFIC, TBX21, IL17RA, GATA3, GNG11, ACSBG1, MYC, GLP1R, MMRN1, SEPHS1, GLI1, GLB1, TTLL5, GHSR, MPRIP, GDNF, PADI4, GDF1, OPN1MW, KAT2A, MED13L, SF3B3, SF3B1, CABIN1, ZNF281, ATP6V0A2, HLA-DQB2, HLA-DRA, HDAC5, SUCLA2, TNFRSF25, RIPK1, TNFSF14, TNFSF10, TNFSF9, IL3, IKBKB, IGFBP5, TNFRSF10C, IGFBP3, SOCS1, IFNGR1, CFLAR, PROM1, IFNB1, IFNA13, IFNA10, APLN, IFNA4, PER2, MARCO, RNASET2, HDAC6, SLC14A2, XPO1, YWHAE, ZAP70, ZNF148, IL10RB, ANC, FGF23, GPR68, CXCR2, IL7R, IL3RA, TAM, FZD4, PLA2G6, PLA2G10, PIK3R3, HAT1, CYP4F2, FCN3, PSMG1, IER3, ARHGEF7, EIF2B5, PRDX6, HP, HNRNPD, NCR2, ARHGEF6, HNRNPA1, FOXA1, TBPL1, VPS4B, CCL4L2, HMMR, MTMR3, LPIN2, HMGB1, ELMO1, HLA-DRB5, P2RY14, SLC23A1, HLA-DRB4, NR1I3, RBX1, HPGD, SLC9A3R1, UBE4A, VAMP3, IFNA1, IAPP, SELENBP1, PGLYRP1, MAP3K14, CCRL2, LATS1, NEURL1, HTR7, HSP90AA1, HSPA6, HSF2, HSD11B2, HRAS, IL32, GPR55, CD83, HPN, GLP2R, H3P40

Ulcerative Colitis Medlineplus

Ulcerative colitis is a chronic disorder that affects the digestive system . This condition is characterized by abnormal inflammation of the inner surface of the rectum and colon , which make up most of the length of the large intestine. The inflammation usually causes open sores (ulcers) to develop in the large intestine. Ulcerative colitis usually appears between ages 15 and 30, although it can develop at any age. The inflammation tends to flare up multiple times throughout life, which causes recurring signs and symptoms.
Crohn's Disease Mayo_clinic

Overview Gastroenterology & GI Surgery Blog Connect with others and follow the latest advances in treating Crohn's disease and ulcerative colitis on Mayo Clinic Connect. Crohn's disease is a type of inflammatory bowel disease (IBD). It causes swelling of the tissues (inflammation) in your digestive tract, which can lead to abdominal pain, severe diarrhea, fatigue, weight loss and malnutrition. Inflammation caused by Crohn's disease can involve different areas of the digestive tract in different people, most commonly the small intestine. This inflammation often spreads into the deeper layers of the bowel. Crohn's disease can be both painful and debilitating, and sometimes may lead to life-threatening complications. There's no known cure for Crohn's disease, but therapies can greatly reduce its signs and symptoms and even bring about long-term remission and healing of inflammation.
Crohn Disease Medlineplus

Crohn disease is a complex, long-lasting (chronic) disorder that primarily affects the digestive system . This condition involves an abnormal immune response that causes excess inflammation. It most often affects the intestinal walls, particularly in the lower part of the small intestine (the ileum ) and portions of the large intestine (the colon ). However, inflammation can occur in any part of the digestive system, from the mouth to the anus. The inflamed tissues become thick and swollen , and the inner surfaces of the digestive system may develop open sores (ulcers).

Hair Loss Wikipedia

It allows differential diagnosis of hair loss in most cases. [28] There are two types of identification tests for female pattern baldness: the Ludwig Scale and the Savin Scale. ... Archived from the original on 22 January 2013 . Retrieved 28 March 2012 . ^ a b Yamada, T; Hara, K; Umematsu, H; Kadowaki, T (2013). ... PMID 23554099 . ^ "The hair pull test" . Keratin.com . Retrieved 28 March 2012 . [ self-published source?

VDR, HR, SRD5A2, LSS, HTRA1, EDNRA, AR, MTHFR, ZDHHC13, ABCC2, CRH, ODC1, ZFP36, SUPV3L1, BRD4, TNFRSF10A, PRKAR1A, PARP1, RHOA, FAR2, AIRE, HLA-DRB1, NUDT15, PTPN22, IL2RA, LIPH, FOXN1, LPAR6, FOXP3, TRPV3, HLA-DQA1, MBTPS2, HLA-DQB1, KRT74, BCL2, TGM1, RBM28, CTLA4, ZMPSTE24, TARDBP, TRPS1, DSG4, AHSG, SPP1, EBP, DSP, GJB2, ITGB6, DCAF17, PKP1, PIK3R1, MGP, KLF8, EDAR, COL18A1, CASZ1, STUB1, WNT10A, PRKACA, GJB4, MAPT, PRKD1, CTC1, SRRM1, PLEC, WRAP53, WARS2, PEX14, SLITRK1, MSN, PNPLA6, GJB6, FAF1, PRDM6, TWIST2, MTX2, DPY30, NOTCH1, C2orf42, NRAS, NSF, ROR2, MMP1, OPHN1, ANTXR1, PARN, PAX3, LRMDA, PDGFA, PEX7, MKLN1, TCF12, PORCN, USB1, ARHGAP31, NOP10, TNFRSF1B, BBX, MRPS22, DUSP22, FADS2, TWIST1, BTNL2, UROD, UROS, RECQL4, EXOC2, WNT5A, WNT6, XDH, XPA, XPC, SLC30A2, ALMS1, SSPN, NHP2, SLC14A2, OFD1, IKBKG, TP63, CHD7, IQGAP1, SLC39A4, TTC27, LGR4, DOCK6, NECTIN1, TERT, RAG1, RAG2, EPS8L3, SLC29A3, RMRP, RORA, RPL21, ZC3H11A, LIG4, DCLRE1C, ST3GAL4, NXN, SMARCA2, MCCC2, SNRPE, PLEKHM1, HDAC9, VGLL4, PERP, THADA, STAT4, ALX4, TRMT11, TBX15, TCF4, FAM53B, ALOXE3, ZNF462, TERC, LMNA, KRT6B, EDARADD, TEX41, RNU4ATAC, MAPT-AS1, KLF15, COL3A1, COL7A1, HULC, DKK2, RTEL1, TSPEAR-AS1, TINF2, ABCA12, DDB2, DKC1, TSPEAR, RSPO2, AUTS2, DVL1, DVL3, EBF1, FAM111B, NANOGP9, SETBP1, NIPAL4, SOX18, ERCC2, LAMC2, ERCC4, ERCC5, ZFHX4-AS1, LINC01432, CD28, RUNX3, ACVR1, ADA, ABHD5, LINC01995, ABCD1, ALOX12B, LINC01681, WARS2-AS1, RORA-AS1, LINC02745, LINC01494, AADACL2-AS1, MEMO1, ATR, BCS1L, BMP2, BRAF, BTD, BTK, C1QA, C1R, MTND1P31, MKLN1-AS, HOXD-AS2, ZBED6, CASR, RUNX1, FGF5, ERCC3, FGFR1, DRAIC, RBPJ, RIN2, ARHGEF9, IL2RG, GSE1, C1orf127, IL7R, APCDD1, ZHX3, EIF3E, IRAK1, IRF4, JUP, SASH1, KRAS, KRT6A, HAUS7, VSIG4, KRT16, KRT17, KRT81, KRT83, KRT85, KRT86, LAMA3, LAMB3, TMEM74, CLDN1, DLL4, GNA11, GJB3, GJA1, OFCC1, CERS3, SPAG17, HFE, LINC00311, LINC00670, EOGT, PNPLA1, HLA-DRA, UBR1, FZD2, HLCS, HRAS, KDSR, PUDPP2, EXOSC2, FTL, SPPL2C, ZBTB38, IL1B, IFNG, TNF, IL17A, CYP19A1, IL1RN, AGA, IL1A, FAS, KLK3, DKK1, CYP27B1, IL4, CRP, TLR9, KLRK1, CD274, NF1, ISG20, VAMAS6, MIF, ACER1, HT, CLRN1, IL18, IL2, IGF1, GPT, NOTCH4, FLG, EGFR, IL31, DSC3, DSC2, CTNNB1, KLRC4-KLRK1, NFE2L2, TLR7, PRL, PPARG, SRD5A1, PTH, SOAT1, APMR2, MIR30B, MTCO2P12, EDA2R, TTC7A, MIR22, MIR29A, OPN1MW3, KMT5AP1, APMR1, RPS7P5, ATOD1, FMN2, OPN1MW2, IL23A, CXXC5, LMLN, BCL11B, LINC01193, MCHR2, KRT71, TIRAP, FCRL3, SLC5A11, MED25, SETD7, RBM45, PDCD1LG2, IL23R, SHCBP1, DPP8, SPATA5, NUDT10, MPZL3, CARD14, GPRC5D, ABO, HPGDS, GSK3B, HSD11B1, HSD3B1, HOXB8, HLA-G, HLA-C, GZMB, CXCL2, INVS, CXCL1, GRB10, GH1, OPN1MW, GATA3, GABPA, HSPA1B, ICAM1, IGFALS, IL6, IL7, IL10, IL16, IRF5, JAK1, KRT15, LDLR, MC2R, MC4R, NR3C2, CD200, MPZ, COX2, FUT3, FGF7, ERBB2, CDSN, AHR, ALB, ALOX15, ANGPT2, APEX1, BIRC5, APOC1, FASLG, ATP5PF, C4BPA, CACNB4, CAMP, CASP3, CASP9, FOXN3, EIF4E, CHRM3, LTB4R, PLK3, COL1A1, CP, CST6, CTBP1, CTSB, DCN, ACE, DMD, DSG3, EDA, EGF, MX1, MYB, NCL, ARHGEF10, TP53, TPMT, TRAF1, TYMS, UBTF, BEST1, WNT10B, TCL1A, DGAT1, ZPR1, SOCS3, ATG12, XPR1, TCL1B, ABCB6, TLR1, MPZL2, MCRS1, SH2B2, STAMBP, PSIP1, ICOSLG, CABIN1, ATP6V0A2, SGK3, ARIH1, SLITRK5, LRIT1, FGF20, IL36RN, TNNI3, TH, NFKB2, RBP1, NINJ1, NOS3, PAK1, PAM, PCYT1A, PDC, PGR, PLCD1, POLD1, PPIA, MAP2K7, PRNP, PTGDS, PTGS2, RFC1, TGFB2, CCL2, SHBG, SHMT1, SLC19A1, SNRPD1, SOD1, SRY, STAT1, TAP1, TAZ, ACAT1, TRBV20OR9-2, PRDX2, TGFB1, LINC02605

Gestational Trophoblastic Disease Wikipedia

Methotrexate and dactinomycin are among the chemotherapy drugs used in GTD. [24] [25] [26] [27] In women with low risk gestational trophoblastic neoplasia, a review has found that Actinomycin D is probably more effective as a treatment and more likely to achieve a cure in the first instance than methotrexate. [28] Only a few women with GTD suffer from poor prognosis metastatic gestational trophoblastic disease.

POU5F1, POU5F1P4, H19, PPP1R13B, CD274, NANOG, CDKN1C, IGF2, TP53, SOX2, POU5F1P3, TNF, STAT3, SRY, SPP1, TP53BP2, FOSL1, DOC2A, SAT1, EIF3A, FHL5, PAK4, ACOT7, CIB2, PPP1R13L, RASSF1, PTEN, ERVW-1, ZBTB7A, AKIRIN2, NLRP7, ACTBL2, KIF7, MIR21, POTEKP, MIR525, MIR518B, POTEM, RFC2, SERPINA3, PSG6, BRCA1, EGFR, DNMT3B, DAB2, VCAN, CDH11, CD44, CEACAM1, ERBB4, BCL2, BCHE, AKT2, AKT1, ACTG2, ACTG1, ERBB3, ERV3-1, ACR, PAK1, PPARG, PIK3CG, PIK3CD, PIK3CB, PIK3CA, PAK2, MSH2, PTK2B, MRC1, MLH1, MCL1, ITGB1, HMMR, FOSL2, HTRA1

Heart Failure Wikipedia

Obstructive sleep apnea (a condition of sleep wherein disordered breathing overlaps with obesity, hypertension, and/or diabetes) is regarded as an independent cause of heart failure. [27] Recent reports from clinical trials have also linked variation in blood pressure to heart failure [28] [29] and cardiac changes that may give rise to heart failure. [30] High-output heart failure [ edit ] Heart failure may also occur in situations of "high output" (termed " high-output heart failure "), where the amount of blood pumped is more than typical and the heart is unable to keep up. [31] This can occur in overload situations (e.g., blood or serum infusions), kidney diseases, chronic severe anemia , beriberi (vitamin B 1 / thiamine deficiency), hyperthyroidism , cirrhosis , Paget's disease , multiple myeloma , arteriovenous fistulae , or arteriovenous malformations .

NOS3, NOS2, NR3C2, ACACA, PRKAR2B, SOD1, SLC9A1, CCL2, REN, RBP4, RAC1, PTGS2, PTGS1, PTH, PRL, MAP2K7, PPARG, PPP1R1A, SOD3, PON1, POMC, PLAT, PIK3CG, PDPK1, PDGFRA, PCK1, SERPINE1, PEBP1, SOD2, SOX4, NPR1, PPARGC1A, UCN2, KAT8, FIP1L1, ELOVL6, TBX20, RETN, GHRL, NOX4, NOX1, BAMBI, SIRT1, DSTN, FBLN5, TLR2, GDF15, ROCK2, HAND2, ADIPOQ, NRIP1, XDH, VWF, VEGFA, UCP1, TNNT2, TNFRSF1A, TNF, ACADS, OLR1, NPPB, ATP2A2, NPPA, CYBB, CCN2, CSF3, CSF2, CS, CRP, CIDEA, CAT, AVPR2, AVP, ATP2A1, EDN1, ATP1A3, APOC1, APCS, ALB, AGTR1, AGT, GRK2, ADRB3, ADRB1, ADRA2C, ACLY, CFD, ACE, EDNRA, GSK3B, NFE2L2, ITGB1, INS, CXCL8, IL6, IL1B, IFNG, HTR2B, HSPB1, HMOX1, NRG1, HIF1A, CXCL2, GCG, EDNRB, EPHX2, FASN, GATM, MSTN, GPX4, TP53, SCD, TUBB, TTN, DSP, ATP5F1D, TTN-AS1, APOE, PRKCD, PNPLA2, ADRB2, SERPINA5, JARID2