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  • Pediatric Ependymoma Wikipedia
    Jones, Chris (ed.). "Portrait of ependymoma recurrence in children: Biomarkers of tumor progression identified by dual-color microarray-based gene expression analysis".
    RELA, TP53, EGFR, MME, C11orf95, YAP1, VEGFA, MDM2, CDKN2A, NOTCH1, CD274, SST, TNC, CDKN2B, PTEN, IL6, MAMLD1, KIT, ATRX, KRT75, PROM1, SLC9A3R1, PSCA, TWIST1, TTR, AKR1A1, JAG1, TDG, CLDN5, TSPAN4, ZEB1, SYP, ABCC8, STC1, STAT3, SPINK1, SOX11, SOX10, SOX9, SOX4, SNCA, SMN2, SMN1, TUBB3, NES, HOXB13, MIR19A, GADL1, EZHIP, MIR10A, MIR10B, MIR15A, MIR181C, MIR221, IPO7, MIR24-1, MIR29A, MIR34C, MIR135B, MIR146B, LINC00899, SIK1, C1orf194, AZIN2, TP53INP1, ESX1, ARMC9, HES4, MIB1, BEX1, TET2, SHC3, GLS2, CBY1, EPB41L3, RASSF1, SLC6A8, MXD4, SMARCB1, RRM1, SHH, EPO, IDH1, HTR1B, HOXA9, GNAO1, GH1, GFAP, FOXJ1, FGFR3, FGFR1, FCGR1A, EZH2, ETFA, ERCC1, ERBB4, EPHB2, JAG2, DRD2, DRD1, DCX, DAPK1, CHI3L1, CDK6, CD151, CD44, CASP8, CAPS, CALR, CALCR, CCND1, ASAH1, CXCL8, KDR, S100B, PDGFRA, S100A6, S100A4, S100A2, S100A1, APC, RBL2, RAC2, PLG, PIK3CG, PIK3CD, PIK3CB, PIK3CA, ABCB1, PDGFRB, PAX5, L1CAM, OTX2, NFIC, NF2, NCL, MYCN, MUC1, MKI67, MGMT, MET, MEN1, MCAM, MAP2, STMN1, LAMA2, SIK1B
  • Friedreich's Ataxia Wikipedia
    Chien HF, Barsottini OG (eds.). Movement Disorders Rehabilitation. Springer, Cham. pp. 83–95. doi:10.1007/978-3-319-46062-8.
    FXN, NFE2L2, GABPA, CASP3, GPAA1, PPARG, GAA, FANCC, PIP5K1B, CTCF, PPARGC1A, SIRT3, GFAP, MSH2, EPO, IGF1, HDAC3, IL1B, SOD2, BRCA2, GRAP2, SLC1A3, RACK1, DNM1L, PCLAF, TJP2, TAT, TBX1, AIMP2, XBP1, FOXH1, TRAF2, CPNE3, CCT3, UCHL1, VCAM1, EZR, TP53, SYNE1, AHSA1, GABARAP, VTRNA2-1, POU5F1P4, POU5F1P3, MIR323A, MIR124-1, CTCFL, CHCHD4, FTMT, BCL2L12, ACE2, HAMP, LYRM4, SLC17A7, COQ8A, RETN, HPGDS, MLH3, POLDIP2, RNF19A, ISCU, CRTC1, SCT, SETX, SELP, ACO2, ATXN1, HSPA5, HFE, GPX1, GH1, GABRB1, FTH1, FMR1, ERBB2, DNMT1, NQO1, CYP2A6, MAPK14, CRK, COX8A, CD68, CCK, RUNX1, CAT, CAPG, BAX, ATF4, AR, AGTR1, ACTC1, HIF1A, HSPA9, ROS1, ICAM1, RORC, RAD51, MAPK1, PRKAA2, ACTB, POU5F1, PMS2, PHF1, PDK1, PDGFRB, OPA1, NPPB, MYH4, MYH2, MTHFR, MLH1, MIP, MEF2C, CD46, LPL, LAMP1, IL10, IFNG, LINC01672
  • Progeria Wikipedia
    Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. p. 574. ... In Kimura, Honoka; Suzuki, Aoi (eds.). New Research on DNA Damages. New York: Nova Science Publishers, Inc. pp. 1–47. ... Lewin, Alfred (ed.). "The Mutant Form of Lamin A that Causes Hutchinson–Gilford Progeria Is a Biomarker of Cellular Aging in Human Skin".
    LMNA
  • Fish Allergy Wikipedia
    Microbiology: A Human Perspective (6th ed.). New York: McGraw-Hill. pp. 414–428. ^ a b c d Janeway, Charles; Paul Travers; Mark Walport; Mark Shlomchik (2001).
    PVALB, AGXT, SERPING1
  • Neural Tube Defect Wikipedia
    First Aid for the USMLE Step 1: 2010 (20th ed.). McGraw-Hill. p. 127.
    VANGL1, VANGL2, FUZ, MTHFD1, MTHFR, PAX3, FOLR1, GRHL3, BHMT, CECR2, FOLR2, ZIC2, PTK7, SHROOM3, ZIC5, CYP1A2, SPINT2, NAT2, CCL2, TBXT, GLI3, CSF2, INS, IFNG, GHRL, SKI, NPY1R, PRSS8, PYY, RRM1, RFC1, CDH1, AFP, PGPEP1, MTRR, MTR, PRCP, SETBP1, BMP1, CBSL, SLC19A1, CBS, TP53, MTHFD1L, PDGFRA, FOLH1, PAX1, TCN2, PARD3, SHMT1, CASP8, GLDC, TYMS, FZD3, CELSR1, UCP2, LMNB1, LRP6, IGF2, SOX3, ALDH1A2, SCRIB, ZIC3, DVL2, DHFR, COMT, CASP9, GCLC, PPARGC1A, MARCKS, ALDH1L1, MGMT, MSX2, MMUT, NFKB1, NOS2, PCMT1, TRAF4, CASP3, NOG, PRKACB, PRICKLE1, PTCH1, BMP4, SHH, TBX1, FZD6, ALX1, UGCG, CUBN, LRP2, RAB11FIP3, FOXO3, RAB23, HLA-A, F2RL2, GRHL2, MARCKSL1, EPHA4, INPP5E, DVL1, NHLRC2, H4C14, H4C8, H4C2, EED, MIR206, PTF1A, H4C5, H4C13, MIR197, FOXN1, TAGLN2, MIR129-2, MIR30B, CYP26B1, SELENOH, CUL4B, TRADD, MIRLET7G, ZGPAT, H4C3, H4C11, MALL, LST1, PERCC1, CDH23, GORASP1, CRPPA, POU5F1P4, CSRP3, DVL1P1, ARID1A, H4C9, POU5F1P3, SALL4, H4C1, H4C4, H4C6, H4C12, H4C15, TNFSF12, PCSK9, SLC19A2, PEMT, SEC24B, SLC46A1, PRRT2, WDR20, TRIM4, EMG1, CARM1, NKX2-8, CITED2, TCTN3, TXN2, TUBGCP2, SLC22A16, FKBP8, KDM2B, KCNQ1OT1, ANKRD6, DLC1, RXYLT1, WNK1, SHROOM1, SIRT1, TRPM6, NOL3, RIN2, FTO, PPIG, SUFU, DACT1, CD320, TNIP1, H4-16, LIN28A, TUBA3D, PRX, SLC40A1, KEAP1, WLS, ZEB2, GPR161, NAT1, ZIC1, GOLGA4, EZH2, FASN, FGF8, GPC5, FOXO1, FUT2, GCH1, GCKR, CBLIF, GJA1, GLI2, GNAS, CFHR1, TRDMT1, HHEX, HIF1A, HLA-B, HLA-C, HMOX1, HOXB7, HOXD@, ID1, ID2, IGF1, IL10, ITGA3, DVL3, SARDH, XPC, ATRX, ACTB, ADA, AHR, AKT2, ALX3, AMT, ANXA5, ANXA11, APAF1, APOB, SHROOM2, ASCL1, BCHE, DLX5, C5, C5AR1, CALCA, CD6, CDC25C, CLDN3, CRABP2, CTNNA1, CYP1B1, DAPK3, DDIT3, DIO3, ITGB1, ITPK1, JARID2, TERC, RELA, S100B, SALL2, CXCL6, SLC2A2, SNAI2, SMARCC1, SOX2, SULT1A1, SYT1, TCF7L2, TCN1, TFAP2A, KCNQ1, TGFB3, TGIF1, TNF, TRIP6, TUBA4A, TUBA3C, TULP3, TXN, KDM6A, VCL, WNT7B, WNT2B, MAPK8, PRKCB, PRKCA, PRKACA, KRT1, LAMC2, LEP, LEPR, LGALS1, LIFR, LIG3, MAB21L1, MAP3K5, MLH1, MRC1, ABCC1, MSH2, MUC2, MYH2, MYLK, NAP1L2, NCAM1, SEPTIN2, NFE2L2, NOS1, NOS3, POU3F1, POU5F1, PPBP, RN7SL263P
  • Cluster Headache Wikipedia
    . ^ The 5-Minute Sports Medicine Consult (2 ed.). Lippincott Williams & Wilkins. 2012. p. 87. ... Headache in Clinical Practice (Second ed.). Taylor & Francis.[page needed] ^ Johnson, Tim (16 May 2013).
    HCRTR2, CALCA, ADH4, S100A12, CLOCK, HCRT, MME, ADCYAP1, CACNA1A, MZB1, CD2AP, MCF2L, SELE, MTDH, CCL4L2, NRXN3, PER3, VIP, VCAM1, SST, SLC6A4, TRAF3IP2, PRL, CCL4, RBM3, ADCYAP1R1, SERPINA1, NOS3, NOS2, NOS1, MTHFR, LRP2, IL2, ICAM1, HTR1B, HFE, GNB3, CCL4L1
  • Venous Thrombosis Wikipedia
    .; Terrenato, Irene; Sperati, Francesca; Barba, Maddalena; Yosuico, Victor Ed; Schünemann, Holger (2018). ... Cochrane Vascular Group (ed.). "Treatment for superficial thrombophlebitis of the leg".
    F2, SERPINC1, MTHFR, F5, PROC, F13A1, F3, TFPI, PLG, PLAT, LPA, KDR, EPO, JAK2, SERPINA10, PLAU, F8, F13B, CSF2, F7, PIGM, PROS1, PROCR, F9, HABP2, THBD, ABO, AKT1, SLC44A2, F10, SERPINE1, PMM2, F11-AS1, COX7A2L, FUNDC2, TSPAN15, COX8A, CRP, IL6, VWF, SELP, ACE, APOE, PC, VKORC1, CCL2, ADAMTS13, IL18, MMP2, F11, IL17A, CBS, C20orf181, APEX1, CPB2, CYP2C9, ZNF415, KLKB1, KNG1, ARHGEF7, LEP, RBBP6, PTS, PTEN, PRKCD, VEGFA, PRKRA, PLA2G6, NFKB1, POU2F3, TLR9, NOS3, CLEC1B, ASCC1, PECAM1, TNF, PLA2G1B, STAT3, PLA2G2A, MTRR, H3P40, ITGB3, APC, MIR195, MIR150, CD40, FGB, FGG, CYP4V2, MIR495, SERPIND1, MIR532, HLA-DPB1, MIR582, RN7SL263P, CXCR2, ALB, CXCL8, TNFSF11, CBSL, NNT, POTEKP, SIRT1, SLC9A8, MIR335, ACOT7, MICA, TP63, MIR411, FASTK, MIR483, DURS1, POTEM, PADI4, SETD1A, FHL5, LIPG, ADIPOQ, HNRNPA1P10, MIR21, PLA2G15, MIR205, MARCHF1, FTO, PPP1R3B, ACSF2, HAMP, FERMT3, SLC9A7, RETN, ACSS2, ACCS, TUBA1C, TSPAN18, ADI1, DNER, MIR136, MARCHF3, DAND5, PCSK9, IS1, GP6, SLC9A9, TSPAN33, ACTBL2, SLC9A4, MIRLET7E, MIR130A, CORO7, IL1R2, A2M, VTN, GCLC, ESR1, ESR2, FGA, FOXC2, GAS6, GCY, GGCX, HIF1A, EDN1, HMGB1, HNRNPA1, HRG, IFNA1, IFNA13, IFNG, IL2, EMD, DNASE1, IL9, AR, ACR, ACTG1, ACTG2, AMBP, ANXA2, APOH, FASLG, AVP, CYP3A4, BCL2, BDKRB2, CAD, ENTPD1, CDSN, CHI3L1, CYP2B6, IL4, IL10, VCAM1, SLC5A2, REN, S100A9, CCL7, CX3CL1, SELL, SELPLG, SLC2A1, SLC9A3, PTGS2, SLC9A5, SPP1, TCF21, TEK, TNFRSF1A, TP53, UGCG, PTPRC, PTGIR, ITGAM, MTR, LDLR, LMNA, MIF, MMP1, MMP3, MMP9, MMP14, MYH9, SERPINA3, NDUFB2, NFKBIL1, FURIN, SERPINF1, ABCB1, SERPINF2, PPP1R1A, PPP1R3C
    • Deep Vein Thrombosis Wikipedia
      Formation of a blood clot (thrombus) in a deep vein "DVT" redirects here. For other uses, see DVT (disambiguation). Deep vein thrombosis Other names Deep venous thrombosis DVT in the right leg with swelling and redness Specialty Various Symptoms Pain, swelling, redness, enlarged veins in the affected limb[1] Complications Post-thrombotic syndrome, recurrent VTE[2] Risk factors Recent surgery, older age, active cancer, obesity, personal history or family history of VTE, injuries, trauma, lack of movement, hormonal birth control, pregnancy and the period following delivery, antiphospholipid syndrome, certain genetic factors[3][4] Diagnostic method Ultrasound[5] Differential diagnosis Ruptured Baker's cyst, cellulitis, hematoma, lymphedema, and chronic venous insufficiency Prevention Frequent walking, calf exercises, maintaining a healthy body weight, anticoagulants (blood thinners), intermittent pneumatic compression, graduated compression stockings, aspirin[6][7] Treatment Anticoagulation, catheter-directed thrombolysis Medication Direct oral anticoagulants, low-molecular-weight heparin, fondaparinux, unfractionated heparin, warfarin Frequency 1.0–1.8 out of 1,000 people per year with European ancestry[3] Deep vein thrombosis (DVT) is the formation of a blood clot in a deep vein, most commonly in the legs or pelvis.[8][a] Symptoms can include pain, swelling, redness, and enlarged veins in the affected area, but some DVTs have no symptoms.[1] The most common life-threatening concern with DVT is the potential for a clot (or multiple clots) to detach from the veins (embolize), travel through the right side of the heart, and become stuck in arteries that supply blood to the lungs. This is called pulmonary embolism (PE). Both DVT and PE are considered as part of the same overall disease process, which is called venous thromboembolism (VTE). VTE can occur as DVT only, as PE with DVT, or PE without DVT.[3] The most frequent long-term complication is post-thrombotic syndrome, which can cause pain, swelling, a sensation of heaviness, itching, and in severe cases, ulcers.[5] Also, recurrent VTE occurs in about 30% of those in the ten years following an initial VTE.[3] The mechanism of clot formation typically involves some combination of decreased blood flow rate, increased tendency to clot, and injury to the blood vessel wall.[9] Risk factors include recent surgery, older age, active cancer, obesity, personal history and family history of VTE, trauma, injuries, lack of movement, hormonal birth control, pregnancy and the period following birth, and antiphospholipid syndrome. VTE has a strong genetic component, accounting for approximately 50 to 60% of the variability in VTE rates.[4] Genetic factors include non-O blood type, deficiencies of antithrombin, protein C, and protein S and the mutations of factor V Leiden and prothrombin G20210A.
  • Hand, Foot, And Mouth Disease Wikipedia
    Harrison's Principles of Internal Medicine (18th ed.). New York: McGraw-Hill.
    CA10, CXCL8, IL10, IL6, TNF, VDR, AQP4, IL18, IFNG, TLR3, OAS1, SCARB2, CCL2, IL22, VIP, CCL4L2, CERS1, ATG4B, TLR4, DDX58, IL37, ACTB, DLL1, SLC6A1, TLR7, TLR8, SCARA3, GDE1, DLL4, ROBO3, IL17F, MIR155HG, CCL4L1, MIR221, POTEF, TGFB1, REN, SELPLG, CCL4, ATP1A3, CASP3, CRP, FN1, GDF1, GZMB, HMGB1, IFNA1, IFNA13, IFNAR1, IFNAR2, IL4, IL13, IL17A, INSRR, MMP8, NM, NOTCH1, NOTCH2, PLXNA2, PLAAT4, ADRB1, S100B, PERCC1
  • Gout Wikipedia
    From Hogarth to Rowlandson : medicine in art in eighteenth-century Britain (1. publ. ed.). ... PMID 20008601. ^ Firestein, MD, Gary S.; Budd, MD, Ralph C.; Harris Jr., MD, Edward D.; McInnes PhD, FRCP, Iain B.; Ruddy, MD, Shaun; Sergent, MD, John S., eds. (2008). ... Kelley's Textbook of Rheumatology (8th ed.). Elsevier. ISBN  978-1-4160-4842-8 . ^ a b c Liu-Bryan, Ru; Terkeltaub, Robert (2006). ... Gout at Curlie Chisholm, Hugh, ed. (1911). "Gout" . Encyclopædia Britannica. 12 (11th ed.).
    ABCG2, SLC2A9, CD14, IL1B, IL1RN, ALPK1, XDH, CARD8, ALDH16A1, HPRT1, ZNF518B, HNF1B, DARS2, BCAS3, ALX4, RNF115, MACROD1, SEC61A1, NRBP1, A1CF, MLXIPL, TRIM54, MEPE, PRKAG2, SFMBT1, CNTN5, SLC22A11, CARMIL1, RBFOX1, SHLD2, ABCA1, TBL2, FNDC4, SLC17A4, ABCC9, SLC17A2, H2AC5P, BAIAP2, TRIM38, KAT5, SCGN, POLR3C, SLC17A3, SLC22A7, CD160, NXPH4, GPN1, R3HDM2, MLXIP, SLC4A1AP, FSTL4, CUX2, IFT172, FBXO22, ZSCAN31, WNT5B, SLC13A3, TRIM46, LINC02537, RAF1P1, LHFPL3, KRT8P26, OR7E35P, CRIP3, FAM86MP, LINC01460, LINC01405, ALG1L3P, ADPGK-AS1, H2BC2P, MUC22, AADACL2-AS1, CT69, LINC01229, RFX3-AS1, B4GALT1-AS1, PPM1K-DT, RELA-DT, NRXN2-AS1, HNF1A-AS1, NALCN, H2BC1, CLNK, WDR1, INHBE, QRICH2, RNASEH2C, C2orf16, ZNF512, AP5B1, UBE2Q2, SLC22A12, ZNF513, CNIH2, NRG4, NIPAL1, FAM53A, LINC01010, NUDT17, KRTCAP3, SLC16A9, H2AC1, JAZF1, SH2B3, ABCG1, SNX17, ORC4, IGF1R, INHBC, INSR, KCNQ1, LRP6, MAP3K11, MPV17, MUC1, SLC22A18AS, HLF, OVOL1, PDE1C, PDZK1, PFKM, PKD2, ACVR2A, PPM1G, PRKCA, HNF4G, HGF, PRPS1, CYP2E1, ALDH2, ANK1, APOE, ATP1A4, BDKRB2, CFTR, CLCNKB, CYP2C8, EPB42, HFE, FGFR2, FRK, G6PC, SLC37A4, GCKR, GTF3C2, H1-2, H1-6, MAPK6, PPARD, H2BP5, ZMYM6, SPP1, SPTA1, SPTB, ABCC8, SLC5A6, ALDH1A2, PTPRD, HNF1A, TPST1, H4C2, H4C3, H3C2, H2BC4, UMOD, VDR, H2AC4, BAZ1B, BCL7B, NRXN2, PYGM, BABAM2, MAP4K2, RAB27B, RARB, MRPL33, RREB1, ATXN2, SLC22A1, SLC4A1, SLC12A3, SLC17A1, H2AC6, CXCL8, ADIPOQ, CRP, BCL2, CXCL16, NR2C2, MT1B, PRKG2, POMC, S100A9, CCL2, IL33, MTTP, SLC40A1, SIRT1, MAP3K7, IL18, IL6, TGFB1, TNF, HLA-B, IL4
  • Dry Eye Syndrome Wikipedia
    Kelley's textbook of rheumatology (9th ed.). Philadelphia: Elsevier/Saunders. p. 1179. ... Retrieved 28 October 2020. ^ a b c d Gelatt, Kirk N., ed. (1999). Veterinary Ophthalmology (3rd ed.). ... (ed.). Veterinary Ophthalmology (5th ed.). Ames, Iowa: Wiley-Blackwell. p. 919. ... (ed.). Veterinary Ophthalmology (5th ed.). Ames, Iowa: Wiley-Blackwell. p. 1483.
    IL12A-AS1, ERAP1, TUBB6, NOD2, LBR, LMNA, MAB21L1, MEFV, IARS2, RNF125, SCN8A, IL10, SCN9A, NLRP1, FAS, AFG3L2, ZMPSTE24, STAT4, TLR4, RNF113A, IL12A, BTNL2, ERCC2, GSN, B2M, C4A, CCR1, GTF2H5, ADSS1, ERCC3, UBAC2, FOXE3, GJB2, KLRC4, GTF2E2, HLA-B, HLA-DRB1, IL23R, MPLKIP, TNF, MMP9, TBCE, IL4, FAM111A, SLC11A1, TP63, HIF1A-AS1, SPHK1, SOCS3, KLF4, CKAP4, REG4, MIR205, PBK, MIR184, BRD1, LEF1, SYMPK, NLRP3, AIRE, LEPQTL1, UVRAG, SERPING1, CST4, ATN1, EGF, ESR1, IFNG, IL1A, IL6, CXCL8, IL17A, IL18, ITGAL, ITGAX, ITGB2, MUC5AC, PAX6, PPARG, RPE65, CXCL6, SFRP1, SMN1, TRIM21, RO60, SSB, TGFB1, THBS1, TLR2, SMN2
  • Fatty Liver Disease Wikipedia
    Vespasiani-Gentilucci, Umberto (ed.). "Noninvasive scoring systems predict hepatic and extra-hepatic cancers in patients with nonalcoholic fatty liver disease".
    APOB, LDLR, LEP, SIRT1, PPARA, CYP2E1, UCP2, PTEN, CAT, CYP19A1, ATP7B, PNPLA3, GPT, TNF, MTTP, PPARG, APOE, NFE2L2, SREBF1, FGF21, TLR4, MIR34A, PPARD, SERPINE1, LEPR, NR1H3, ATF4, NR1H4, NR0B2, XBP1, NR1I2, PLIN2, CCL2, SOD1, SLC13A5, MIR17, ANGPTL4, SIRT7, MIR150, SLC2A2, PON1, MIR384, POMC, FOXA1, RIPK3, CXCL8, IFNA2, GPX1, MIR219A1, GPX4, HADHB, HAS3, F2, MIR197, HHEX, DDIT3, SERPINA6, MIR134, MIR139, MIR183, CYP1B1, INS, COL3A1, MIR154, MAT1A, MIR10B, MYC, CEBPB, NEIL1, F2R, CNDP2, MIR148B, MIR320A, BIRC3, MIR503, MIR449C, MIR410, SOD2, GPD1L, NREP, MIR542, DHRS7, STS, ADIPOQ, SLC22A8, ADK, PSMA5, PTMA, CYP7B1, TF, CYCS, NR1D1, SCD, IL6, PPARGC1A, INSR, DGAT2, G6PC, PTGS2, IL10, INSIG1, IL1B, GCK, IL18, ABCA1, MC4R, LGALS3, NQO1, CTSB, HSPA5, ACACA, IL13RA2, CA3, MFN2, PLAU, RELA, ATP5IF1, ACACB, OTC, LRP6, NFKB1, SLC27A4, ABCC2, FIS1, SUOX, TXN, CPS1, IKBKG, OPA1, ABCC3, HNF4A, CIDEC, CPT1A, HFE, PCSK9, LIPA, LIPE, AKT2, PLIN1, BSCL2, SLC25A13, PNPLA2, ABHD5, HNRNPA1, PCK1, SLC22A5, PRDM16, PCK2, ZMPSTE24, HNF1B, ABCG5, LMNA, AGPAT2, CAV1, CAVIN1, CBS, ACADVL, HNRNPA2B1, LMNB2, SLC40A1, TARS2, CLPB, ACAD9, ALDOB, NSMCE2, VCP, CEP19, KCNAB2, XRCC4, MRPS7, ALMS1, DGUOK, DDOST, LDLRAP1, HSD17B4, CNBP, COX15, MLXIPL, GPD1, PHKG2, PHKA2, PGM1, PMM2, LYRM4, POLD1, CD36, BCS1L, RMND1, TM6SF2, TRAPPC11, ATP6AP1, RERE, PTRH2, ABCG8, SKI, LARS1, MARS1, SAR1B, HADH, SLC17A5, FARSB, ETFA, GABRD, FBP1, FOS, FASN, ACADL, ETFDH, POLR3A, ETFB, TMEM199, ACADM, FABP1, IFNL3, GGTLC1, PRKAA1, GGT1, GCG, LOC102724197, PRKAB1, PRKAA2, GGT2, GGTLC3, GGTLC4P, DPP4, GGTLC5P, CRP, GABPA, AHSG, ALB, MBOAT7, SERPINA1, MIR122, GCKR, ALDH2, SIRT6, FETUB, EGFR, APOC3, CNR1, SHBG, FBL, STAT3, PIK3CG, PIK3CA, PIK3CD, PIK3CB, APOA1, TGFB1, AHR, APRT, GLP1R, ADIPOR1, EPO, ERN1, MAP3K5, CHPT1, KRT18, SLC5A2, XPR1, MFAP1, VDR, G0S2, TFEB, LCN2, DGAT1, SREBF2, PPP1R3B, APOD, EGR1, FLII, SCP2, CEBPA, NAMPT, LINC01194, AQP7, ANGPTL8, FOXO1, CETP, MUC1, ESR1, FGL1, NR3C2, AFP, NLRP3, IKBKB, NRG4, FFAR1, LPIN1, LYPLAL1, SIRT3, MLYCD, HIF1A, HMGB1, AKT1, GH1, GFER, FGF19, TRPV1, IGF1, RETN, AKR1B1, KHK, ACLY, CPT2, HAVCR1, CES2, PRL, BHMT, MAP2K1, MAPK8, TP63, TNFRSF1A, TFF3, CREG1, PPID, HNRNPA1P10, PEMT, BDNF, HDAC3, ZGLP1, POSTN, LINC01672, SELENBP1, MAP3K7, USP10, LPAR2, AIRE, MIR33A, SMUG1, ACOX1, CCL4, CASP8, NR1I3, VLDLR, SMPD1, FAS, UCP1, MTCO2P12, ADAMTS13, STAM, SFRP5, SETMAR, CCR2, NUDT11, FGF23, ARID1A, ANGPTL3, BCAP31, PRMT3, CXCR6, EIF2AK3, CCND1, RBP4, TP53, RARA, PPIF, ELANE, MAS1, GIP, KLF6, CD44, C1QTNF5, MTOR, G6PD, IRF3, MAP3K8, RTL1, ACE2, COX2, DNASE2, CPT1B, DECR1, HGF, NR4A1, TBL1XR1, MIR141, HMOX1, EHMT1, GPR119, CXCL16, CNTF, IDH2, IGLL1, IFNG, NR3C1, EPAS1, IFNA13, HSD17B13, CYBB, IFNA1, TNFRSF11B, GHSR, HTR2A, E2F1, CMKLR1, FAT1, ADIPOR2, P2RX7, CD40LG, MOGAT1, SIK2, SPPL3, TWIST2, CRTC1, MYDGF, BRD4, DDAH1, ZNF300, ZBTB20, TRPC4AP, MTG1, FANK1, TIPARP, POC1A, NOCT, BAMBI, SLC25A47, BRD1, SDF2L1, SLC7A11, OR10J5, NUP62, NEAT1, NUS1, CD2AP, HSPA12A, PPP1R15A, NADK2, SULF1, NES, CCDC80, PNPLA6, PAQR3, PGRMC1, PPM1K, HPSE, IQGAP2, SLC16A11, PAQR7, SGMS2, CERS1, GPBAR1, EBP, ADIPQTL3, JAZF1, CELF1, KHDRBS1, MLKL, IGF2BP2, TXNIP, ERLIN1, SORBS1, FNDC5, ERFE, CERS6, DUSP12, SARM1, PPARGC1B, PHLPP2, FBXO3, KDM4B, SIRT2, S100A16, MGLL, SESN3, USP18, OCLN, RAB40B, APOC4-APOC2, APCDD1, SIK1, NUS1P3, CBSL, LARP1BP2, RNU6-392P, SLC27A5, FERMT2, CKAP4, IL33, LCOR, TBL1Y, TERF2IP, AGGF1, PRM3, NMRK1, RETSAT, TRPV4, ALOXE3, EGLN1, DLL4, CCHCR1, TOLLIP, PLIN5, CARD6, FAM3B, ELOVL5, MIR149, MIR132, SMOC2, ARID4B, GHRL, MIR130A, TMBIM1, ATG3, MID1IP1, CWF19L1, LAPTM4B, EIF2AK4, MIR200C, SPHK2, ACKR3, SMURF1, MIR203A, MIR21, CRTC2, MIR30C1, MIR30C2, GPAM, CMAS, SUGP1, MIR192, CCAR2, ACSS2, ACOT13, HAMP, NLRP2, MIOX, RBM38, CREBZF, DEPTOR, RTRAF, MIR367, REPIN1, TBK1, MFRP, SETD2, KLF15, MCTS1, CHKB-CPT1B, MALAT1, IMMP2L, ASPG, MCAT, RABGEF1, SYVN1, GNMT, INTU, APOM, IRF2BP2, IRGM, ZGPAT, RNU1-1, FFAR4, THEM5, HM13, SPX, MIR378A, NPC1L1, IL25, MIR423, PINK1, FUNDC2, DUSP26, CCL4L1, GOLM1, PLEKHO1, FTO, LEF1, DCTN4, AGPAT1, NLRX1, STEAP4, PPP1R3G, CXADRP1, DELEC1, DHDDS, CERS2, PIF1, SNX10, MIR24-1, SSTR4, ATG7, IGF2, MCHR1, GPR35, GPR42, CXCL1, GTF2H1, GZMB, HADHA, HDAC1, FOXA2, HOXD13, HSD11B1, HSF1, HSPA1A, HSPA1B, ICAM1, GOT2, GNA12, GLUL, FLT1, EIF2S1, ENO2, ESRRA, FABP5, PTK2B, FOXO3, FN1, GLRX, FPR1, GC, GDF1, MSTN, GDNF, GIPR, IFNB1, IGFBP1, NM, IGFBP2, LIM2, LNPEP, LPL, LRP1, CYP4F3, LTF, MCL1, MEN1, MET, MMP9, MPST, MSRA, MT1B, MTHFR, ND3, LECT2, LBP, LAMP1, CXCL10, IGFBP7, IL1A, IL6ST, CXCR2, IL15, IL17A, IRF6, LALBA, IRS1, ITGA1, ITGB2, ITPR2, JAK2, KDR, EDNRA, ATN1, DNMT1, DBP, AOX1, APOC1, APOC4, AQP9, ARNTL, ARR3, ASS1, ATF3, AVP, BCL2A1, CFB, BGLAP, CEACAM1, BID, BLVRA, ANXA6, ANPEP, ANGPT1, ADRB3, ACVR2B, ADH1B, PARP1, ADRA1A, ADRA2B, ADRB2, AGT, AMPD2, AGTR1, AHCY, ABCD1, ALOX12, ALOX5, AMPD1, BMP4, BNIP3, BRS3, CTNNB1, CS, MAPK14, CSF3, NCAN, CTAA1, CTF1, CTSD, CCR7, CXADR, CYP3A4, CYP7A1, CYP8B1, CYP17A1, DAPK3, CP, CMA1, CAPN2, CD68, CASP3, CASR, CD5L, CD14, ENTPD1, CD40, CD69, CLTC, CDK4, CDKN2A, CDKN2B, CES1, CHKA, CHUK, MTRR, NNMT, STK25, CCN4, NCOA3, NRIP1, KDM5D, FZD7, SOAT2, NCK2, OGT, PIK3R3, BHLHE40, STC2, IRS2, BECN1, MBTPS1, TNFSF14, GGH, SLC7A5, KMT2D, ST8SIA4, TSN, NR2E1, TM7SF2, TPH1, NR2C2, TRAF3, HSP90B2P, UBE3A, ZFP36, UGCG, UGT2B4, USP4, UVRAG, VDAC1, VEGFA, CFLAR, APLN, NOS1, SQSTM1, HDAC5, PQBP1, CTDSP2, LRPPRC, PSME3, TRIM13, TRIB1, PLIN3, FSTL3, SYCP2, PRMT5, FAM3C, VAV3, CAP1, CREB3, SRA1, GAB2, KEAP1, CD163, EIF2B5, MBD2, SOCS3, MYOM2, HACD1, IL32, GLP2R, IP6K1, FADS2, CCL4L2, H6PD, CLOCK, NOS1AP, KMT2B, TLR3, TIMP3, TFRC, TFAM, PKM, PKNOX1, PLG, PLTP, PTPA, PRKAR1A, PRKD1, MAP2K7, PRTN3, PSMD10, PTBP1, PTN, PTPN1, PTPN6, RAP1A, PIN1, SERPINB6, PEX1, NR4A2, NOS2, NOTCH1, NPC1, NPPC, NTS, NUCB2, OPCML, SERPINF1, P2RY2, PAEP, PDC, PDK4, ENPP1, PDZK1, RARRES1, RARRES2, RBL1, STAR, SPG7, SPINK1, SPINT1, SPP1, SRI, ST14, STK11, SNAP25, TAC1, ADAM17, TBL1X, HNF1A, TCF7L2, TDGF1P3, SP1, SNAI1, REN, S100A10, RENBP, RLN2, ROCK1, RPE65, SORT1, S100A4, CCL5, SLC16A1, SELE, SGK1, SLC1A2, SLC2A4, SLC3A2, SLC4A1, H3P10
  • Igg4-Related Disease Wikipedia
    Stone; Shigeyuki Kawa; Mitsuhiro Kawano (eds.). IgG4-Related Disease.
    LAT, SMUG1, IL6, TGFB1, CCL18, IL1B, IL2, IL10, POSTN, TNFSF13B, ADA, YWHAZ, TLR7, AICDA, SLAMF7, IL33, HT, MARCO, SDC1, VEGFA, ANXA11, PLA2G1B, LTF, IL4, IL1A, IFNG, NR3C1, ENO1, CCR8, PLB1
  • Leber's Hereditary Optic Neuropathy Wikipedia
    Stuart MC, Kouimtzi M, Hill SR (eds.). WHO Model Formulary 2008. World Health Organization. p. 251. hdl:10665/44053.
    ND6, ND1, ND4, ND5, ND4L, ATP6, CYTB, COX3, ND2, RPE65, NDUFS2, COX1, IL1B, IL1A, LRAT, CPLX1, OPA1, TBC1D24, PARL, OPA3, CEP290, NDUFA1, CRYZ, FXN, MFN2, PLXNA2, NPTX2, SOD2, RP2, SPG7, RPGR, TAP2, SCN1A, TFPI, TFAM, ABCA4, TK2, TWNK, GGT2, POTEF, GGTLC3, GGTLC5P, SLC26A5, GLIS3, GMCL2, GMCL1, RPGRIP1, ADI1, TP53, NDUFB11, YARS2, GCA, AIPL1, KIF1B, IMMT, OPTN, COX5A, PHLDA2, POLG, RNR2, SERPINA1, PGD, ERG, EPHX1, ENO2, ENDOG, TIMM8A, ACE, CPOX, COX8A, CAT, CASP3, BNIP3L, BNIP3, AR, AQP4, AMD1P2, AMD1, AKR1B1, ESR2, GGT1, GCLC, MAS1, TRNK, TRNF, ACTB, RNR1, MTHFR, COX2, TRNC, MAPT, GRIA1, TACSTD2, KRT10, HLA-B, HLA-A, GSR, GRM2, GRIA2, GGTLC4P
    • Leber Hereditary Optic Neuropathy Medlineplus
      Leber hereditary optic neuropathy (LHON) is an inherited form of vision loss. Although this condition usually begins in a person's teens or twenties, rare cases may appear in early childhood or later in adulthood. For unknown reasons, males are affected much more often than females. Blurring and clouding of vision are usually the first symptoms of LHON. These vision problems may begin in one eye or simultaneously in both eyes; if vision loss starts in one eye, the other eye is usually affected within several weeks or months.
    • Leber Hereditary Optic Neuropathy Gene_reviews
      Summary Clinical characteristics. Leber hereditary optic neuropathy (LHON) is characterized by bilateral, painless, subacute visual failure that develops during young adult life. Males are four to five times more likely than females to be affected. Affected individuals are usually entirely asymptomatic until they develop visual blurring affecting the central visual field in one eye; similar symptoms appear in the other eye an average of two to three months later. In about 25% of cases, visual loss is bilateral at onset. Visual acuity is severely reduced to counting fingers or worse in the majority of cases, and visual field testing shows an enlarging dense central or centrocecal scotoma. After the acute phase, the optic discs become atrophic. Significant improvement in visual acuity is rare and most persons qualify for registration as legally blind (visual acuity ≤20/200).
    • Leber Hereditary Optic Neuropathy Gard
      Leber hereditary optic neuropathy (LHON) is a condition characterized by vision loss. Vision loss is typically the only symptom of LHON. Some families with additional signs and symptoms have been reported and are said to have "LHON plus", a condition which includes vision loss, tremors, and abnormalities of the electrical signals that control the heartbeat (cardiac conduction defects). Some affected individuals develop features similar to multiple sclerosis. LHON is caused by mutations in the MT-ND1, MT-ND4, MT-ND4L, and MT-ND6 genes. LHON has a mitochondrial pattern of inheritance; however, there are many cases in which there are no other cases of LHON in the family.
    • Leber Optic Atrophy Omim
      A number sign (#) is used with this entry because Leber optic atrophy, also known as Leber hereditary optic neuropathy (LHON), can be caused by mutation in multiple genes encoded by the mitochondrial genome (mtDNA). Description LHON presents in midlife as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with many missense mutations in the mtDNA that can act autonomously or in association with each other to cause the disease. The 18 allelic variants are MTND6*LDYT14459A (516006.0002); MTND4*LHON11778A (516003.0001); MTND1*LHON3460A (516000.0001); MTND6*LHON14484C (516006.0001); MTCYB*LHON15257A (516020.0001); MTCO3*LHON9438A (516050.0001); MTCO3*LHON9804A (516050.0002 ); MTND5*LHON13730A (516005.0002); MTND1*LHON4160C (516000.0002); MTND2*LHON5244A (516001.0002); MTCOI*LHON7444A (516030.0001); MTND1*LHON3394C (516000.0004); MTND5*LHON13708A (516005.0001); MTCYB*LHON15812A (516020.0002); MTND2*LHON4917G (516001.0001); MTND1*LHON4216C (516000.0003); MTND1*LHON4136G (516000.0002); MTATP6*LHON9101C (516060.0003); MTND4L*LHON10663C (516004.0002). The first 17 of these variants are summarized in Table M1, MIM12. As pointed out by Riordan-Eva and Harding (1995), although the plethora of mtDNA mutations identified in families with LHON had resulted in confusion as to the pathogenic significance of each mutation, it had been established that the 3 primary mutations at basepairs 11778 (516003.0001), 3460 (516000.0001), and 14484 (516006.0001) are present in at least 90% of families.
    • Leber Optic Atrophy, Susceptibility To Omim
      In 95% of cases worldwide, Leber hereditary optic atrophy (LHON) is due to 1 of 3 point mutations of mitochondrial DNA in genes that code for complex I of the respiratory chain: 3460G-A in MTND1 (516000.0001), 11778G-A in MTND4 (516003.0001), and 14484T-C in MTND6 (516006.0001). That only approximately 50% of male and 10% of female mutation carriers develop symptoms (Newman, 2002) indicates a requirement for additional genetic or environmental factors for phenotypic expression of LHON. Epidemiologic studies failed to substantiate anecdotal reports of a link with excess alcohol and tobacco (Kerrison et al., 2000). Bu and Rotter (1991) concluded that available pedigree data on LHON are most consistent with a 2-locus disorder, with one responsible gene being mitochondrial and the other nuclear and X chromosome-linked. They demonstrated that a proportion of affected females are probably heterozygous at the X chromosome-linked locus and are affected due to unfortunate X chromosome inactivation, thus providing an explanation for the later age of onset in females.
    • Leber Hereditary Optic Neuropathy Orphanet
      Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers. Epidemiology Prevalence of the disease is not well known but is estimated at 1/15,000 - 1/50,000 people worldwide. Clinical description Sudden, painless, acute or subacute central vision loss is often noted between the ages of 18 to 30. It affects both eyes simultaneously or sequentially with vision loss in the second eye occurring weeks to months after the first. Visual loss generally occurs subacutely (over a period of several weeks) and then stabilizes.
  • Severe Acute Respiratory Syndrome Wikipedia
    . ^ Harrison's Internal Medicine, 17th ed. Parisianou Publications. pp. 1129–1130. ^ Stockman LJ, Bellamy R, Garner P (September 2006).
    ACE, CXCL6, CXCL1, ACE2, SARS1, VTN, CDSN, SARS2, MBL2, SH2D3A, CXCL10, HLA-A, TMPRSS2, IFNG, CLEC4M, IL6, MX1, IFNB1, HLA-DRB1, MBL3P, CCL2, TNF, OAS1, MYOM2, CCL5, HLA-B, NLRP3, IL10, BST2, IL2, IFNA13, IFNA1, RBM45, ERVK-6, SPECC1, GPT, CD209, EGFR, ERVK-32, MERTK, EBI3, POLDIP2, LINC01672, THPO, COPD, RNF19A, TPO, TRAF3, UBE2I, CBLL2, TRIM25, AIMP2, BCAR3, IL18R1, MUL1, IFIH1, ADAM17, GRAP2, NPIPB3, TMPRSS11D, RIPK3, BAG3, SDS, ISG15, FGL2, MASP2, CKLF, AHSA1, PRRT2, SOCS3, ABCA4, SULT1E1, CR1, FN1, FCER2, ESR1, CTSL, CTRL, MAPK14, CRK, ATF2, CREB1, MAP3K8, RTN2, CD14, CASP3, CASP1, CALR, BCL2L1, B2M, ANPEP, AHSG, AGT, GAPDH, GNL1, GOT1, GPER1, BRD2, RNASEL, RNASE2, RB1, PLAAT4, MAPK1, ACRV1, PRKCA, PPIA, PI4KB, PRKN, NM, NFIC, MIP, IRF3, IL12RB1, CXCL8, IFN1@, ICAM3, PRKCB
    • Severe Acute Respiratory Syndrome Orphanet
      A rare pulmonary disease induced by SARS-CoV coronavirus infection, with a reported incubation period varying from 2 to 7 days. Patients present flu-like symptoms, including fever, malaise, myalgia, headache, diarrhoea, and rigors. Dry, nonproductive, cough and dyspnea are frequently reported. Severe cases evolve rapidly, progressing to respiratory distress and failure, requiring intensive care. Mortality rate is 10%. The disease appeared in 2002 in southern China, subsequently spreading in 2003 to 26 countries. Reported human-to-human transmission occurred in Toronto (Canada), Hong Kong Special Administrative Region of China, Chinese Taipei, Singapore, and Hanoi (Viet Nam).
  • Hiv/aids In South Africa Wikipedia
    .; Struthers, eds. (2010). What is Left Unsaid: Reporting the South African HIV Epidemic.
  • Fujian Flu Wikipedia
    (eds.). Influenza Report 2006. Paris, France: Flying Publisher. ISBN  978-3-924774-51-6 .
  • Graft-Versus-Host Disease Wikipedia
    (eds.). Thymus Gland Pathology: Clinical, Diagnostic, and Therapeutic Features. pp. 255–267. doi:10.1007/978-88-470-0828-1_30.
  • Hereditary Nonpolyposis Colorectal Cancer Wikipedia
    Williams Gynecology (2nd ed.). New York: McGraw-Hill Medical. ISBN  978-0071716727 . ^ Braun MM, Overbeek-Wager EA, Grumbo RJ (March 2016).
    MSH2, MLH1, PMS2, MSH6, MLH3, EPCAM, TGFBR2, FAN1, APC, KRAS, PMS1, MSH3, EXO1, PALB2, CHEK2, ATM, PIK3CA, CDH1, PTPRJ, CTNNA1, CD44, EPHX1, CDKN1B, NFKBIZ, SMARCA4, BARD1, SEMA4A, XRCC4, RPS20, MUTYH, FBXO11, CTNNB1, BRCA2, MRC1, BRCA1, BRAF, TP53, PTEN, FAP, CDKN2A, CCND1, RINT1, PTGS2, H3P10, CD274, REEP5, NHS, BAX, BAAT, SMAD4, NAT2, STK11, COX2, IGF1, MTHFR, HRAS, POLE, HDAC2, ARID1A, MTCO2P12, XRCC6P5, PMS2CL, ARSA, CEACAM5, RAD51C, GSTT1, CYP1A1, MYC, BRIP1, EGFR, POLD1, GSTM1, GSTP1, LRRFIP2, XPA, ANXA10, VHL, RASSF1, TIMP2, AIP, TGFB1, SOCS1, CTCF, RNF43, SEC63, EMB, MIR18B, MIR31, MIR23B, MIR223, MIR152, MIR148A, LINC01194, GSTK1, ARSI, CISD3, HEPACAM, SLCO6A1, MUC16, ZHX2, ATAD1, STN1, MYH14, CPAT1, NLRP2, CDHR2, CDHR5, F11R, SGSM3, NPTN, GREM1, SPEN, ZEB1, NAT1, ST8, SPTBN1, KAT2A, FMR1, ETS1, ERCC2, ERBB2, EPHB1, ENG, ELK3, DNMT3B, DCC, CYP17A1, CYP1B1, CTLA4, KLF6, COMT, COL11A2, CEACAM7, CEACAM3, CDX2, CASP2, BLM, APEX1, APBA1, ALK, AKT1, PARP1, ACVR2A, GJA8, HFE, IGF2, PCNA, SPRR2A, SLC6A2, RNASEL, RAF1, PTPRG, PSG2, MAP2K7, PRB1, PIK3CG, PIK3CD, PIK3CB, SERPINA1, NDUFAB1, IGF2R, NBN, MMP7, MMP1, MGMT, MEN1, MDM2, MCC, MAX, MAT2A, SMAD7, SMAD2, ITGA9, PDCD1
    • Lynch Syndrome I Omim
      A number sign (#) is used with this entry because Lynch syndrome I, also known as hereditary nonpolyposis colorectal cancer (HNPCC), is caused by heterozygous mutations in mismatch repair genes (MMR). HNPCC1 refers to the disorder caused by mutations in the MSH2 gene (609309). Description Hereditary nonpolyposis colorectal cancer (HNPCC) is subdivided into (1) Lynch syndrome I, or site-specific colonic cancer, and (2) Lynch syndrome II, or extracolonic cancer, particularly carcinoma of the stomach, endometrium (see 608089), biliary and pancreatic system, and urinary tract (Lynch and Lynch, 1979; Lynch et al., 1985; Mecklin and Jarvinen, 1991). HNPCC disorders show a proclivity to early onset, predominant proximal location of colon cancer, a dominant pattern of inheritance, an excess of multiple primary cancers, and significantly improved survival when compared stage for stage with the American College of Surgeons Audit Series. Lynch et al. (1991) estimated that hereditary nonpolyposis colorectal cancer accounts for about 4 to 6% of colorectal cancer.
    • Colorectal Cancer, Hereditary Nonpolyposis, Type 4 Omim
      A number sign (#) is used with this entry because hereditary nonpolyposis colorectal cancer-4 (HNPCC4) is caused by heterozygous mutation in the PMS2 gene (600259) on chromosome 7p22. Clinical Features Nicolaides et al. (1994) identified a germline deletion in the PMS2 gene in a patient with a family history of HNPCC. A second deletion was found in the patient's tumor sample. The tumor from this patient exhibited microsatellite instability. To examine the contribution of the PMS2 and EXO1 (606063) genes to the HNPCC disease phenotype, Thompson et al. (2004) studied 21 families negative for mutations in MSH2 (609309) and MLH1 (120436) that fulfilled the Amsterdam diagnostic criteria. They found that mutation in PMS2 accounts for only a small proportion of HNPCC families.
    • Colorectal Cancer, Hereditary Nonpolyposis, Type 5 Omim
      A number sign (#) is used with this entry because hereditary nonpolyposis colorectal cancer-5 (HNPCC5) is caused by heterozygous mutation in the MSH6 gene (600678) on chromosome 2p16. Description Hereditary nonpolyposis colorectal cancer type 5 is a cancer predisposition syndrome characterized by onset of colorectal cancer and/or extracolonic cancers, particularly endometrial cancer, usually in mid-adulthood. The disorder shows autosomal dominant inheritance with incomplete penetrance (summary by Castellsague et al., 2015). For a phenotypic description and a discussion of genetic heterogeneity of hereditary nonpolyposis colorectal cancer (HNPCC), see HNPCC1 (120435). Clinical Features Miyaki et al. (1997) reported a family with HNPCC5.
    • Lynch Syndrome Orphanet
      A rare inherited cancer-predisposing syndrome characterized by predisposition to a wide variety of cancers, including neoplasms of the digestive tract, urinary tract, kidney, endometrium, ovary, brain, and prostate, as well as sebaceous skin tumors, depending on the gene involved. Tumors may occur at any age but often arise in young people. Factors influencing individual tumor risk include sex, age, affected gene, and personal history of cancer.
    • Colorectal Cancer, Hereditary Nonpolyposis, Type 7 Omim
      A number sign (#) is used with this entry because hereditary nonpolyposis colorectal cancer-7 (HNPCC7) is caused by mutation in the MLH3 gene (604395) on chromosome 14q24.3. For a phenotypic description and a discussion of genetic heterogeneity of hereditary nonpolyposis colorectal cancer, see HNPCC1 (120435). Molecular Genetics Liu et al. (2003) screened index patients from 70 families with colorectal cancer for germline mutations in the MLH3 gene. None of the families had classical or attenuated familial adenomatous polyposis. Liu et al. (2003) identified 1 frameshift mutation and 11 missense mutations in MLH3 in 16 of the 70 index patients (23%).
    • Colorectal Cancer, Hereditary Nonpolyposis, Type 6 Omim
      A number sign (#) is used with this entry because of evidence that hereditary nonpolyposis colorectal cancer-6 is caused by heterozygous mutation in the TGFBR2 gene (190182) on chromosome 3p22. For a phenotypic description and a discussion of genetic heterogeneity of hereditary nonpolyposis colorectal cancer (HNPCC), see HNPCC1 (120435). Clinical Features Among 5 HNPCC families without microsatellite instability, Lu et al. (1998) found a germline missense mutation in the TGFBR2 gene in 1 family. The proband and her 2 brothers had colorectal cancers complying with the clinical criteria A of HNPCC, but the onset of cancer was beyond 50 years of age in all cases (80 in the case of the proband and 65 and 60 in her 2 brothers, respectively), which did not satisfy the Amsterdam criteria. Unlike patients with typical HNPCC, affected members of this family lacked multiple synchronous, metachronous colorectal cancers and extracolonic cancers.
    • Colorectal Cancer, Hereditary Nonpolyposis, Type 8 Omim
      A number sign (#) is used with this entry because this form of hereditary nonpolyposis colorectal cancer results from heterozygous deletion of 3-prime exons of the EPCAM gene (185535) and intergenic regions directly upstream of the MSH2 gene (609309), resulting in transcriptional read-through and epigenetic silencing of MSH2 in tissues expressing EPCAM. For a phenotypic description and a discussion of genetic heterogeneity of hereditary nonpolyposis colorectal cancer (HNPCC), see HNPCC1 (120435). Molecular Genetics Chan et al. (2006) reported inheritance of germline allele-specific and mosaic hypermethylation of the MSH2 gene (609309), without evidence of DNA mismatch repair gene mutation, in a 3-generation Chinese family. Three sibs carrying the germline methylation developed early-onset colorectal or endometrial cancers, all with microsatellite instability and MSH2 protein loss. Clonal bisulfite sequencing and pyrosequencing showed different methylation levels in different somatic tissues, with the highest level recorded in rectal mucosa and colon cancer tissue, and the lowest in blood leukocytes.
    • Hereditary Nonpolyposis Colon Cancer Orphanet
      A cancer-predisposing condition characterized by the development of colorectal cancer not associated with colorectal polyposis, endometrial cancer, and various other cancers (such as malignant epithelial tumor of ovary, gastric, biliary tract, small bowel, and urinary tract cancer) that are frequently diagnosed at an early age.
    • Colorectal Cancer, Hereditary Nonpolyposis, Type 2 Omim
      A number sign (#) is used with this entry because hereditary nonpolyposis colorectal cancer-2 results from mutations in the MLH1 gene (120436). For a phenotypic description and a discussion of genetic heterogeneity of hereditary nonpolyposis colorectal cancer (HNPCC), see HNPCC1 (120435). Clinical Features Barrow et al. (2008) analyzed the cumulative lifetime incidence of developing colorectal cancer by age 70 years in 121 families with genetically confirmed Lynch syndrome. Fifty-one families had MLH1 mutations, 59 had MSH2 (609309) mutations, and 11 had MSH6 (600678) mutations. The first analysis corrected for ascertainment bias by allocating mutation carrier status to a proportion of unaffected, untested family members.
  • Prader–willi Syndrome Wikipedia
    Medical Genetics (5 ed.). Elsevier Health Sciences. p. 120. ISBN  978-0-323-18837-1 . ^ "Mayo Clinic, Diseases and Conditions".
    MAGEL2, SNRPN, NDN, MKRN3, NPAP1, IPW, PWAR1, SNORD116-1, MKRN3-AS1, PWRN1, SNORD115-1, MRAP2, HERC2, HTR2C, CEP63, CENPJ, SOS1, PTPN11, RIT1, KRAS, RAF1, LZTR1, ATR, GH1, UBE3A, GABRB3, SNORD116@, UROD, SNURF, LEP, SNORD14D, SNORD14B, SNORD35B, SNORD14E, SNORD14C, GHRL, SNORD15A, IGF1, HCRT, GHR, SLC52A2, OCA2, F2R, NR1I2, ADIPOQ, PCSK1, ATP10A, POMC, SETDB1, IL6, GHRH, SNHG14, MAGED1, PWAR5, DMD, BEST1, ZNF274, FMR1, GNAQ, GLP1R, EHMT1, STOML3, HSPG2, STS, RASA1, TNFSF11, CRP, SLC6A4, LEPR, MARK2, TNFRSF11B, EHMT2, METAP2, NHLH2, GHSR, GABRA5, SOST, SIM1, PIK3CA, DKK1, PROCR, PADI4, EID1, RNF13, CIT, ABCB6, GREM1, CYFIP1, ACADS, ADIPOR1, RCBTB1, ZGLP1, MIR23A, MIR122, GOLGA8EP, RBMY1D, ENHO, PWARSN, RBMY2DP, GOLGA6A, WHAMMP3, SNORD109B, SNORD109A, NIPA1, TUBGCP5, LMLN, TMPRSS13, NIPA2, DHDDS, POM121, ADIPOR2, ANKRD36B, CHPT1, PRDM9, RETN, NSMCE3, ANGPTL8, ZNF654, DHX40, SMN2, PREPL, MSMB, MECP2, STMN1, HTR2B, HTC2, NR4A1, HDC, GCG, GAPDH, GABRG3, FRAXA, FMO2, EPHB1, EFNB2, DIO3, DAZ1, DAG1, CNR1, CD36, BTF3P11, BRAF, BGLAP, BDNF, BCR, AVP, ARSD, ARSA, AR, APOC3, ALCAM, MEN1, MST1, DLK1, CYTB, SCG2, VEGFA, TYR, TWIST1, TSPY1, TNF, THAS, STATH, STAR, AGRP, SMN1, SLC5A2, CCL5, SAG, RBMY1A1, PYY, PRNP, PRL, PRKCA, PTPA, PML, PIK3CG, PIK3CD, PIK3CB, PGC, PDPK1, NPY2R, NPY, HNRNPM, FMR1-IT1
    • Prader-Willi Syndrome Gard
      Prader-Willi syndrome (PWS) is a genetic condition that affects many parts of the body. Infants with PWS have severe hypotonia (low muscle tone), feeding difficulties, and slow growth. In later infancy or early childhood, affected children typically begin to eat excessively and become obese. Other signs and symptoms often include short stature, hypogonadism, developmental delays, cognitive impairment, and distinctive behavioral characteristics such as temper tantrums, stubbornness, and obsessive-compulsive tendencies. PWS is caused by missing or non-working genes on chromosome 15. Most cases are not inherited and occur randomly.
    • Schaaf-Yang Syndrome Omim
      A number sign (#) is used with this entry because of evidence that Schaaf-Yang syndrome (SHFYNG) is caused by heterozygous mutation in the MAGEL2 gene (605283) on chromosome 15q11. Description SHFYNG syndrome is an autosomal dominant multisystem disorder characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities. Additional features include contractures, feeding difficulties, and variable dysmorphic facial features. The severity of the disorder is highly variable: some patients may die in utero with fetal akinesia, whereas others can live with moderate disability. Individuals are affected only if the mutation occurs on the paternal allele, since MAGEL2 is a maternally imprinted gene (summary by Fountain et al., 2017) Clinical Features Schaaf et al. (2013) reported 4 unrelated boys with features resembling Prader-Willi syndrome (PWS; 176270).
    • Prader-Willi Syndrome Gene_reviews
      Summary Clinical characteristics. Prader-Willi syndrome (PWS) is characterized by severe hypotonia and feeding difficulties in early infancy, followed in later infancy or early childhood by excessive eating and gradual development of morbid obesity (unless eating is externally controlled). Motor milestones and language development are delayed. All individuals have some degree of cognitive impairment. A distinctive behavioral phenotype (with temper tantrums, stubbornness, manipulative behavior, and obsessive-compulsive characteristics) is common. Hypogonadism is present in both males and females and manifests as genital hypoplasia, incomplete pubertal development, and, in most, infertility. Short stature is common (if not treated with growth hormone); characteristic facial features, strabismus, and scoliosis are often present.
    • Prader-Willi Syndrome Medlineplus
      Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity, also develop type 2 diabetes (the most common form of diabetes). People with Prader-Willi syndrome typically have mild to moderate intellectual impairment and learning disabilities.
    • Prader-Willi Syndrome Omim
      A number sign (#) is used with this entry because of evidence that Prader-Willi syndrome (PWS) is in effect a contiguous gene syndrome resulting from deletion of the paternal copies of the imprinted SNRPN gene (182279), the NDN gene (602117), and possibly other genes within the chromosome region 15q11-q13. Description Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (105830) region. See also the chromosome 15q11-q13 duplication syndrome (608636), which shows overlapping clinical features.
    • Prader-Willi Syndrome Orphanet
      A rare genetic, neurodevelopmental syndrome characterized by hypothalamic-pituitary dysfunction with severe hypotonia and feeding deficits during the neonatal period followed by an excessive weight gain period with hyperphagia with a risk of severe obesity during childhood and adulthood, learning difficulties, deficits of social skills and behavioral problems or severe psychiatric problems. Epidemiology Prevalence at birth is estimated at 1/15,000-30,000 worldwide Clinical description The severe hypotonia at birth is associated with poor oral and social skills which remain, albeit less clinically evident, throughout life. Characteristic facial features (a narrow forehead, almond-shaped eyes, a thin upper lip and down-turned mouth), as well as very small hands and feet, are frequently observed. After this initial phase, followed by an excessive weight gain without changes in eating, the most striking signs appear: hyperphagia and absence of satiety often leading to severe obesity in affected children as young as three years of age. The situation may deteriorate quickly without strict control of food access.
  • List Of Mass Hysteria Cases Wikipedia
    The Epidemics of the Middle Ages (First ed.). p. 118. ^ Jones, George Hilton (1982).
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