Vererbbare neurologische Krankheiten
mit Link zur (OMIM-Datenbank)

weiter zu den Adressen der Institute für Humangenetik
Krankheit/OMIM | Gen | Erbgang | Locus | Symbol | OMIM(Gen) |
---|---|---|---|---|---|
Präsenilin 1 | AD | 14q24.3 | PS-1 | 104311 | |
Präsenilin 2 | AD | 1q31-q42 | PS-2 | 600759 | |
Alzheimer Demenz (#104300) | Amyloid Precursor | AD | 21q21 | APP | 104760 |
Amyotrophe Lateralsklerose (#105400) | Superoxide dismutase-1 | 21q22.1 | SOD1 | 147450 | |
AT-III Mangel (107300) | Antithrombin III | AT3 | 107300 | ||
Apo E Polymorphismus (Risikofaktor für sporadische Alzheimer Demenz) (107741) | Apo E | PM | 19q13.2 | Apo E 2/3/4 | 107741 |
Ataxie-Teleangieektasie (Louis-Bar-Syndrom) (208900) | AT1 | AR | 11q22.3 | ATM | 208900 |
CADASIL | AD | 19p13.1 | NOTCH 3 | 600276 | |
Carbamazepin- sensitivität | EPHX1 | 132810 | |||
Carnitin-Magel (255110) | CPT2 | AR | CPT II | 600650 | |
Central core Krankheit (Myopathie) (117000) | CCO | CCO/CCD | 180901 | ||
Chorea Huntington (143100) | Huntingtin | AD | HD | 143100 | |
Chronisch progressive externe Ophtalmoplegie (CPEO) (530000) | CPEO | mt DNA | MT | 530000 | |
Creutzfeld-Jakob- Krankheit (CJD) (123400) | PRNP | PRNP | |||
Curschmann-Steinert- Syndrom (Myotone Dystrophie) (160900) | DM1 | AD | DMPK | 160900 | |
Dentato-Rubro-Pallidoluysische Atrophie (125370) | DRPLA | Atrophin 1 | |||
Dopa responsive Dystonie (128230) | GTP-Zyklo-Hydroxylase | AD | GCH 1 | 600225 | |
Dopa responsive Dystonie | Tyrosine Hydroxylase | AR | TYH | ||
Duchennesche/Beckersche Muskeldystrophie (310200) | Dystrophin | X-Chr. | Xp21.2 | DMD/BMD | 310200 |
Episodische Ataxie Typ 2 | CACNA1A | AD | 19p13 | EA2 | 108500 |
Essentieller Tremor (#190300) | DRD3 | AD | ETM1 | ||
Essentieller Tremor (#190300) | AD | ETM2 | |||
Essentieller Tremor (#190300) | AD | 6p23 | ETM3 | ||
Familiäre fatale Insomnie (600072) | PRNP | AD | 20pter-p12 | FFI | 176440 |
Familiäre hemiplegische Migräne 1 (141500) | CACNA1A | AD | 19p13 | FHM1 | 601011 |
Familiäre hemiplegische Migräne 2 (602481) | ATP1A2 | AD | 1q21-q23 | FHM2 | 182340 |
Familiäre hemiplegische Migräne 3 (609634) | SCN1A | AD | 2q24 | FHM3 | 182389 |
Fazio-skapulo-humerale Muskeldystrophie (158900) | AD | FSHMD1A | 158900 | ||
Friedreich Ataxie (229300) | Frataxin | AR | 9q13-21.1 | FRDA | 229300 |
Frontotemporale Demenz mit Parkinson-Syndrom | MAPTAU | AD | 17q21.1 | FTDP-17 | 600274 |
Frontotemporale Demenz mit Ubiquitin-Einschlüssen | Progranulin (PGRN) | AD | 17q21.32 | FTDLU | 607485 |
Gerstmann-Sträußler-Syndrom (137440) | PRNP | AD | 20pter-p12 | GSD | 1766440 |
Gliedergürtel- muskeldystrophie (LGMD2A) (253600) | CAPN3 | AR | CAPN 3 | 114240 | |
Gliedergürtel- muskeldystrophie (LGMD 2D) (600119) | alpha-Sarcoglyca n | AR | SGCA | 600119 | |
Glykogenose II (M. Pompe) (232300) | Saure Maltase | AR | GAA | 232300 | |
Glykogenose V (Mc. Ardle) (232600) | Glykogen Phosphoryla se | AR | 11q13-qter | PYGM | 232600 |
Hallervorden-Spatz-Syndrom (234200) | Pantothenat kinase 2 | AR | 20p13-20p12.3 | PANK2 | 606157 |
Hippel-Lindau-Angiomatose (#193300) | VHL | AD | VHL | ||
HMSN 1A (Hereditäre motorisch sensible Neuropathie) (118220) | PMP22 | 601097 | |||
HMSN 1A+B (118200) | PMP22 | 601097 | |||
HMSN II (118210) | KIF1B MFN2 | ||||
HMSN III (145900) | 17p11.2, 1q22, 10q21.1-q22.1 | PRX EGR2 MPZ PMP22 | 129010 159440 601097 | ||
HMSN X-chromosomal (302800) | CMTX1 | 302800 | |||
HMSN X-chromosomal (302800) | GJB1 | 304040 | |||
Hereditäre neuralgische Amyotrophie | SEPT9 | AD? | 17q25 | HNA | 604061 |
HNPP (tomakulöse Neuropathie) (162500) | PMP22 | AD | 17p11.2 | HNPP | 601097 |
Kearns-Sayre- Syndrom (CPEO plus) (530000) | common deletion | spor | MT/KSS | 530000 | |
Lebersche Hereditäre Optikusatrophie (LHON) (535000) | Komplex 1- Untereinheit | mat | nt11778 | MTCYB/ MTND1/ MTND4/ MTND6 | 516020/ 516000/ 516003/ 516006 |
MELAS (540000) | tRNS Leu | mat | nt 3243 nt 3271 | MT/ MTTL 1/ MTTK/ MTCO 3 | 540000/ 590050/ 590060/ 516050 |
MERFF (545000) | tRNA Lys | mat | nt 8344 | MT/ MTTK/ MTTL 1/ MTTS1 | 540000 590060 590050 590080 |
Mitochondriale Myopathie (251900) | MT | 251900 | |||
Morbus Parkinson 1 | SNCA | AD | 4q22.1 | PARK1 | |
Morbus Parkinson 2 (600116) juv. | PARK2 | AR | 6q26 | PARK2 | |
Morbus Parkinson 3 | PARK3 | AD | 2p13 | PARK3 | |
Morbus Parkinson 4 | SNCA | AD | 4q22.1 | PARK4 | |
Morbus Parkinson 5 | UCHL1 | AD | 4p13 | PARK5 | |
Morbus Parkinson 6 | PARK6 | AR | 1p36.12 | PARK6 | |
Morbus Parkinson 7 | PARK7 | AR | 1p36.23 | PARK7 | |
Morbus Parkinson 8 | LRRK2 | AD | 12q12 | PARK8 | |
Morbus Parkinson 10 | PARK10 | ? | 1p32 | PARK10 | |
Morbus Parkinson 11 | GIGYF2 | AD | 2q37.1 | PARK11 | |
Morbus Parkinson 12 | PARK12 | X-linked | Xq21-q25 | PARK12 | |
Morbus Parkinson 14 | PLA2G6 | AR | 22q13.1 | PARK14 | |
Morbus Parkinson 15 (260300)<link> | FBXO7 | AR | 22q12.3 | PARK15 | <link http: omim.org entry>605648 |
Morbus Parkinson 17 | VPS35 | AD | 16q11.2 | PARK17 | |
Morbus Parkinson 18 | EIF4G1 | AD | 3q27.1 | PARK18 | |
Morbus Parkinson 19 | DNAJC6 | AR | 1p31.3 | PARK19 | |
Morbus Parkinson 20 | SYNJ1 | AR | 21q22.11 | PARK20 | |
Myotubuläre Myopathie -X- chromosomale | MTM1 | X-linked | Xq28 | MTM 1 | 310400 |
Narkolepsie 1 | HCRT | 17q2.2 | NRCLP1 | 142857 | |
Narkolepsie 2 | 4p13-q21 | NRCLP2 | 605841 | ||
Narkolepsie 3 | 21q11.2 | NRCLP3 | 609039 | ||
Neurofibromatose Typ I (162200) | AD | NF1 | 162200 | ||
Neurofibromatose Typ II (101000) | AD | NF2 | 101000 | ||
Niemann Pick Typ A | SMPD1 | AR | 11p15.4 | NP-A | |
Niemann Pick Typ B | SMPD1 | AR | 11p15.4 | NP-B | |
Niemann Pick Typ C1 | NPC1 | AR | 18q11.2 | NP-C1 | |
Niemann Pick Typ C2 | NPC2 | AR | 14q24.3 | NP-C2 | |
Spastische Spinalparalyse (182602) | SPG4 | 604277 | |||
Spinale Muskelatrophie I, II, III (253300 | AR | SMN1 | 600354 | ||
Spinale Muskelatrophie I, II, III (253300 | NAIP | 600355 | |||
Wilson Krankheit (277900) | WND | AR | ATP 7B | 277900 |