DSG-Panel-Erbkrankheiten
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1 DSG-Panel-Erbkrankheiten 153 Krankheiten 328 Gene Adrenoleukodystrophie (Addison-Schilder-Syndrom) Agammaglobulinämie Ahornsirupkrankheit (Leuzinose) Alagille-Syndrom Albinismus, Okulokutan Typ 1 Albinismus, Okulokutan Typ 2 Alopecia Universalis Congenita Alpers-Huttenlocher-Syndrom Alpha-Thalassämie Alport-Syndrom Alzheimer, früheinsetzend Amaurose, lebersche kongenital Amyotrophe Lateralsklerose Androgenresistenz Angioödem, hereditär Typ 1 und 2 Aniridie Aortendissektion Aortenstenose, angeboren Argininosuccinat-Lyase-Mangel Arylsulfatase-A-Mangel Ataxie mit okulomotorischer Apraxie Ataxie mit Vitamin-E-Mangel Ataxien, spinozerebellär Augen Albinismus Autoimmunerkrankungen, Polyendokrin Basalzellenkrebs (Basaliom, Basalzellkarzinom, Epithelioma basocellulare) Beta-Thalassämie Biotinidasemangel Blepharophimose Brachydaktylie Branchio-oto-renal Syndrom Brugada-Syndrom Ceroid-Lipofuszinose, neuronal PEX5, ABCD1 BTK BCKDHA, BCKDHB, DBT, DLD JAG1 TYR MC1R, OCA2 HR POLG HBA2 COL4A5 APP, PSEN1, PSEN2 AIPL1, CEP290, CRB1, GUCY2D, IMPDH1, RDH12, RPE65, RPGRIP1 SOD1 AKR1B1 SERPING1 PAX6 ACTA2, COL4A1, MYH11, SMAD3, TGFBR1, TGFBR2 ELN ASL ARSA APTX TTPA ATXN1, ATXN2, ATXN7 GPR143 AIRE PTCH1 HBB BTD FOXL2 GDF5, ROR2 EYA1, SIX1, SIX5 CACNA1C, CACNB2, GPD1L, HCN4, KCNE3, SCN1B, SCN3B, SCN5A PPT1
2 Charge-Syndrom Cherubismus Choroideremia Citrin-Mangel (Citrullinämie II) Coffin-Lowry-Syndrom Cornelia-de-Lange-Syndrom Cystinose Diamond-Blackfan-Syndrom Doppelkortex-Syndrom Duane-Syndrom Dysautonomie ( hereditäre sensible Neuropathie Typ III, Riley-Day-Syndrom), familiär Dysferlinopathie Dyskeratosis congenita (DC, DKC, Zinsser-Cole-Engman-Syndrom) Dystonie-Parkinson-Syndrom Ehlers-Danlos-Syndrom Einschlusskörpermyositis, sporadisch Emery-Dreifuss-Muskeldystrophie (EDMD) Epidermolysis bullosa simplex Erythromelalgie Exostose/ Multiple kartilaginäre Exostosen Fallot-Tetralogie Fanconi-Anämie (FA) Friedreich-Ataxie (Morbus Friedreich) Galaktosämie, angeborene Stoffwechselstörung Gliedergürteldystrophie Glycin-Enzephalopathie Glykogenspeicherkrankheiten (Glykogenosen) Hämochromatose, erblich Hemophilie A Hemophilie B Hexosaminidasen (Tay-Sachs-Syndrom) HIBC-Mangel (3-Hydroxyisobutyryl-CoA- Hydrolase-Mangel) Holt-Oram-Syndrom Hyperthermie, maligne Hypertrophe Kardiomyopathie, familiär Hypochondroplasie (HCH) Hypophosphatasie Immunschwächekrankheit SCID CHD7 SH3BP2 CHM SLC25A13 RPS6KA3 NIPBL CTNS RPL11, RPL35A, RPS10, RPS19, RPS24, RPS26 DCX SALL4 IKBKAP DYSF DKC1 TAF1 COL3A1, COL5A1, COL5A2, TNXB, PLOD1 GNE EMD COL7A1, ITGB4, KRT14, KRT5, LAMB3, PLEC SCN9A EXT1 NKX2-5 FANCA, FANCC, FANCF, FANCG FXN GALT LMNA, CAPN3 AMT, GCSH, GLDC GBE1 HFE F8 F9 HEXA HIBCH TBX5 RYR1 ACTC1, CALR3, CAV3, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK, MYOZ2, PRKAG2, RPS7, SLC25A4, TNNT2, TPM1, VCL FGFR3 ALPL IL2RG
3 Kampomele Dysplasie Kardiomyopathie, arrhythmogene rechtsventrikuläre Kardiomyopathie, dilatative Kartagener-Syndrom und Primäre ciliäre Dyskinesie Kongenitale Störung der Gykosylierung Typ 1A (CDG-1A) Kongenitales Katarakt-faziale Dysmorphien- Neuropathie-Syndrom (CCFDN-Syndrom) Kraniosynostose Li-Fraumeni-Syndrom Lissenzephalie (Miller-Dieker-Syndrom) Long QT-Syndrom Long/Short-QT-Syndrom Louis-Bar-Syndrom Lowe-Syndrom (okulo-zerebro-renales Syndrom) Lujan-Fryns-Syndrom Marfan-Syndrom Menkes-Syndrom Methylmalonazidurie (MMA) Morbus Canavan Morbus Charcot-Marie-Tooth (Typ 1 und 2) Morbus Darier Morbus Fabry ( Fabry-Krankheit, Fabry-Syndrom, Fabry-Anderson-Krankheit) Morbus Gaucher (Gaucher-Syndrom) Morbus Hunter (Mukopolysaccharidose Typ II) Morbus Hunter/Scheie (Hurler Syndrom) Morbus Osler (erblich hämorrhagischen Teleangiektasien) Morbus Pompe (Pompe sche Krankheit) Morbus Wilson Mukolipidosen (ML) Mukoviszidose Multiple endokrine Neoplasie Muskeldystrophie Becker-Kiener Muskeldystrophie, fazioskapulohumeral (Landouzy-Déjérine-Syndrom) Muskeldystrophien (progressive Muskeldystrophie) SOX9 DSC2, DSG2, DSP, JUP, PKP2, RYR2, TMEM43 DES, LAMP2, LDB3, SGCD, STARD3, TAZ, TNNC1, TNNI3, ACTN2, BAG3, ABCC9, PLN CCDC39, CCDC40, DNAH11, DNAH5, DNAH9, DNAI1, DNAI2, RSPH4A, RSPH9, TXNDC3 PMM2 CTDP1 FGFR1 CHEK2, TP53 PAFAH1B1 AKAP9, KCNE1, KCNE2, KCNH2, KCNQ1, SCN4B, SNTA1 ANK2 ATM OCRL MED12 FBN1 ATP7A MMAA, MMAB, MMACHC, MUT ASPA DNM2, PMP22, MPZ, MFN2 ATP2A2 GLA GBA IDS IDUA ENG GAA ATP7B GNPTAB CFTR MEN1, RET DMD FRG1 PABPN1
4 Myasthenie-Syndrom, kongenital CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, DOK7, RAPSN Myotonia congenita Thomsen CLCN1 Myotubuläre Myopathie MTM1 Nemalin-Myopathie TNNT1 Nephroblastom (Wilms-Tumor) GPC3, WT1 Neurofibromatose Typ 1 (Morbus Recklinghausen) NF1 Neurofibromatose Typ II (zentrale NF2 Neurofibromatose) Niemann-Pick-Krankheit (Morbus Niemann Pick, NPC1, NPC2 Niemann-Pick-Syndrom, Sphingomyelinlipidose) Noonan-Syndrom KRAS, NRAS, PTPN11, RAF1, SOS1 Nystagmus FRMD7 Ornithintranscarbamylase-Mangel OTC Osteogenesis Imperfecta (Glasknochenkrankheit) COL1A1, COL1A2 Parkinson (Morbus Parkinson) FBXO7, LRRK2, PINK1, SNCA Parkinson-Dementia-Syndrom MAPT Pendred Syndrome SLC26A4 Phenylketonurie (PKU) PAH Polyposis, familiär adenomatöse TTR, APC Polyposis-Syndrom, juvenilen BMPR1A, SMAD4 Porphobilinogen-Deaminase (Hydroxymethylbilan- HMBS Synthase) ABCA4, ARL6, CA4, CERKL, CNGB1, CRX, EYS, FSCN2, KLHL7, LRAT, MAPRE2, MERTK, NR2E3, Retinitis pigmentosa (Netzhauterkrankung) NUDT19, PRCD, PROM1, PRPF31, PRPF8, PRPH2, RHO, RP9, RPGR, SEMA4A, SNRNP200, SPATA7, TOPORS, TULP1, BEST1, RB1 Retinoschisis RS1 Rett-Syndrom MECP2 Saethre-Chotzen Syndrom TWIST1 SCID, schwerer kombinierter Immundefekt ADA, RAG1, RAG2 Short-QT-Syndrom KCNJ2 Sklerose, tuberös TSC1, TSC2 Smith-Lemli-Opitz Syndrom DHCR7 Smith-Magenis-Syndrom (SMS) RAI1 Sotos-Syndrom NSD1 Spastische Paraplegie 7, hereditär SPG7, KIAA0196, L1CAM, ATL1 Stickler-Syndrom COL9A1, COL11A1, COL2A1 Tachykardie, ventrikulär CASQ2 Taubheit, erblich COL11A2, KCNQ4, GJB2, GJB3, GJB6 Treacher-Collins-Syndrom TCOF1 Trimethylaminurie (Fish-Odor-Syndrom) FMO3
5 Turcot-Syndrom Usher-Syndrom VLCADD Von-Hippel-Lindau Syndrom (Morbus Hippel- Lindau) Vorhofseptumdefekt Waardenburg-Syndrom Werner-Syndrom Wiskott-Aldrich-Syndrom Zellweger-Syndrom Zerebrotendinöse Xanthomatose Zystennieren (polyzystische Nieren) α1-antitrypsin-mangel MLH1, MSH2 CDH23, MYO7A, PCDH15, USH1C, USH2A ACADVL VHL GATA4 PAX3 WRN WAS PEX1, PEX3, PEX10, PEX13, PEX14, PEX19, PEX26 CYP27A1 PKD1, PKD2, PKHD1 SERPINA1
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