MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
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Parent Node:
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Parkinson Disease (D010300)
..Starting node
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PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)

       Child Nodes:



 Sister Nodes: 
..expandAMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1 (OMIM:105500)
..expandParalysis Agitans, Juvenile, Of Hunt (C562469)
..expandPARKINSON DISEASE 1, AUTOSOMAL DOMINANT (OMIM:168601)
..expandParkinson Disease 10 (C564653)
..expandParkinson Disease 11 (C564345)
..expandPARKINSON DISEASE 11, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:607688)
..expandParkinson Disease 12 (C564486)
..expandParkinson Disease 13 (C565204)
..expandPARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:610297)
..expandPARKINSON DISEASE 14, AUTOSOMAL RECESSIVE (OMIM:612953)
..expandParkinson Disease 16 (C567726)
..expandPARKINSON DISEASE 17 (OMIM:614203)
..expandPARKINSON DISEASE 18, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:614251)
..expandPARKINSON DISEASE 19A, JUVENILE-ONSET (OMIM:615528)
..expandPARKINSON DISEASE 20, EARLY-ONSET (OMIM:615530)
..expandPARKINSON DISEASE 21 (OMIM:616361)
..expandPARKINSON DISEASE 22, AUTOSOMAL DOMINANT (OMIM:616710)
..expandPARKINSON DISEASE 23, AUTOSOMAL RECESSIVE EARLY-ONSET (OMIM:616840)
..expandParkinson disease 3 (C537176)
..expandParkinson Disease 3, Autosomal Dominant Lewy Body (C566552)
..expandParkinson Disease 4, Autosomal Dominant Lewy Body (C565324)
..expandPARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:613643)
..expandParkinson Disease 6, Autosomal Recessive Early-Onset (C565276)
..expandParkinson Disease 7, Autosomal Recessive Early-Onset (C565238)
..expandPARKINSON DISEASE 8, AUTOSOMAL DOMINANT (OMIM:607060)
..expandParkinson Disease, Familial, Type 1 (C566823)
..expandPARKINSON DISEASE, LATE-ONSET (OMIM:168600)
..expandParkinson Disease, Mitochondrial (C564015)  LSDB  L: 00170;
..expandParkinsonism, early onset with mental retardation (C537179)
..expandParkinsonism-Dystonia, Infantile (C567730)
..expandProgressive supranuclear palsy atypical (C537240)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:9550
Name:PARKINSON DISEASE 1, AUTOSOMAL DOMINANT
Definition:
Alternative IDs:DO:DOID:0060367
ParentIDs:MESH:D010300
TreeNumbers:C10.228.140.079.862.500/168601 |C10.228.662.600.400/168601 |C10.574.812/168601
Synonyms:PARK1 |PARKINSON DISEASE 1, AUTOSOMAL DOMINANT LEWY BODY ATYPICAL PARKINSON DISEASE, INCLUDED
Slim Mappings:Nervous system disease
Reference: MedGen: 168601
MeSH: 168601
OMIM: 168601;
MSeqDR LSDB:  
Genes: PDP1; SNCA;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003587Insidious onset
3 HP:0002067Bradykinesia
4 HP:0000716Depressivity
NAMDC:  Depression
5 HP:0001260Dysarthria
NAMDC:  Dysarthria
6 HP:0002015Dysphagia
NAMDC:  Dysphagia
7 HP:0001332Dystonia
NAMDC:  Dystonia
8 HP:0002375Hypokinesia
9 HP:0001268Mental deterioration
10 HP:0001336Myoclonus
NAMDC:  Myoclonus
11 HP:0001300Parkinsonism
NAMDC:  Parkinsonism
12 HP:0002172Postural instability
13 HP:0003676Progressive
14 HP:0002322Resting tremor
15 HP:0002063Rigidity
16 HP:0002362Shuffling gait
17 HP:0002360Sleep disturbance
18 HP:0000012Urinary urgency
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000345.4(SNCA):c.*501C>T6622SNCABenignrs17016074RCV000319891|RCV001518859; NMedGen:CN239359|MONDO:MONDO:0008200,MedGen:C1868595,OMIM:168601; MONDO:MONDO:0007488,MedGen:C0752347,OMIM:12775049064727890647278GANC_000004.11:g.90647278G>AClinGen:CA10621990CN239359 Parkinson Disease, Dominant;
NC_000004.11:g.(?_90647315)_(90756838_?)dup6622SNCAPathogenic-1RCV000638390; NMONDO:MONDO:0008200,MedGen:C1868595,OMIM:168601; MONDO:MONDO:0007488,MedGen:C0752347,OMIM:12775049064731590756838nana-C0752347 127750 Lewy body dementia;
NC_000004.11:g.(?_90647315)_(90756828_?)dup6622SNCAPathogenic-1RCV000792149; NMONDO:MONDO:0007488,MedGen:C0752347,OMIM:127750; MONDO:MONDO:0008200,MedGen:C1868595,OMIM:16860149064731590756828nana-
NM_000345.4(SNCA):c.*464C>A6622SNCAUncertain significancers183204610RCV001320355; NMONDO:MONDO:0007488,MedGen:C0752347,OMIM:127750; MONDO:MONDO:0008200,MedGen:C1868595,OMIM:16860149064731590647315GT90647315-
NC_000004.11:g.(?_90647315)_(90756828_?)del6622SNCAUncertain significance-1RCV001874845; NMONDO:MONDO:0007488,MedGen:C0752347,OMIM:127750; MONDO:MONDO:0008200,MedGen:C1868595,OMIM:16860149064731590756828nana-1-
GRCh37/hg19 4q22.1(chr4:90647779-90756863)x36622SNCAnot provided-1RCV001825277; NMONDO:MONDO:0007488,MedGen:C0752347,OMIM:127750; MONDO:MONDO:0008200,MedGen:C1868595,OMIM:16860149064777990756863nana-1-
NC_000004.11:g.(?_90647779)_(90756818_?)dup6622SNCAPathogenic-1RCV001942105; NMONDO:MONDO:0008200,MedGen:C1868595,OMIM:168601; MONDO:MONDO:0007488,MedGen:C0752347,OMIM:12775049064777990756818nana-1-
NM_000345.4(SNCA):c.408C>T (p.Tyr136=)6622SNCABenignrs76642636RCV000350378|RCV000638389|RCV001579798; NMedGen:CN239359|MONDO:MONDO:0008200,MedGen:C1868595,OMIM:168601; MONDO:MONDO:0007488,MedGen:C0752347,OMIM:127750|MedGen:CN51720249064779490647794GANC_000004.11:g.90647794G>AClinGen:CA3010044C0752347 127750 Lewy body dementia;
NM_000345.4(SNCA):c.391-7A>G6622SNCAUncertain significance-1RCV002002810; NMONDO:MONDO:0008200,MedGen:C1868595,OMIM:168601; MONDO:MONDO:0007488,MedGen:C0752347,OMIM:12775049064781890647818TC90647818-
NM_000345.4(SNCA):c.391-16A>G6622SNCALikely benign-1RCV002183476; NMONDO:MONDO:0008200,MedGen:C1868595,OMIM:168601; MONDO:MONDO:0007488,MedGen:C0752347,OMIM:12775049064782790647827TC90647827-
NM_000345.4(SNCA):c.390+11A>C6622SNCALikely benign-1RCV002199426; NMONDO:MONDO:0008200,MedGen:C1868595,OMIM:168601; MONDO:MONDO:0007488,MedGen:C0752347,OMIM:12775049065033490650334TG90650334-
NM_000345.4(SNCA):c.359C>T (p.Pro120Leu)6622SNCAUncertain significance-1RCV002049153; NMONDO:MONDO:0007488,MedGen:C0752347,OMIM:127750; MONDO:MONDO:0008200,MedGen:C1868595,OMIM:16860149065037690650376GA90650376-
NM_000345.4(SNCA):c.349C>A (p.Pro117Thr)6622SNCAUncertain significancers145138372RCV000808297; NMONDO:MONDO:0007488,MedGen:C0752347,OMIM:127750; MONDO:MONDO:0008200,MedGen:C1868595,OMIM:16860149065038690650386GT4:g.90650386G>T-
NM_000345.4(SNCA):c.306+8T>C6622SNCALikely benign-1RCV002107404; NMONDO:MONDO:0008200,MedGen:C1868595,OMIM:168601; MONDO:MONDO:0007488,MedGen:C0752347,OMIM:12775049074338990743389AG90743389-
NM_000345.4(SNCA):c.306+7C>T6622SNCALikely benign-1RCV001486516; NMONDO:MONDO:0007488,MedGen:C0752347,OMIM:127750; MONDO:MONDO:0008200,MedGen:C1868595,OMIM:16860149074339090743390GA90743390-
NM_000345.4(SNCA):c.298T>C (p.Leu100=)6622SNCAConflicting interpretations of pathogenicityrs138969470RCV000407834|RCV001462569; NMedGen:CN239359|MONDO:MONDO:0008200,MedGen:C1868595,OMIM:168601; MONDO:MONDO:0007488,MedGen:C0752347,OMIM:12775049074340590743405AGNC_000004.11:g.90743405A>GClinGen:CA3010108CN239359 Parkinson Disease, Dominant;
NM_000345.4(SNCA):c.287A>G (p.Lys96Arg)6622SNCABenignrs548523899RCV000874593|RCV001157477|RCV002064769; NMedGen:CN517202|MedGen:CN239359|MONDO:MONDO:0007488,MedGen:C0752347,OMIM:127750; MONDO:MONDO:0008200,MedGen:C1868595,OMIM:16860149074341690743416TC4:g.90743416T>C-
NM_000345.4(SNCA):c.247G>C (p.Glu83Gln)6622SNCAUncertain significance-1RCV002017665; NMONDO:MONDO:0007488,MedGen:C0752347,OMIM:127750; MONDO:MONDO:0008200,MedGen:C1868595,OMIM:16860149074345690743456CG90743456-
NM_000345.4(SNCA):c.246G>A (p.Val82=)6622SNCALikely benign-1RCV002196204; NMONDO:MONDO:0008200,MedGen:C1868595,OMIM:168601; MONDO:MONDO:0007488,MedGen:C0752347,OMIM:12775049074345790743457CT90743457-
NM_000345.4(SNCA):c.243A>G (p.Thr81=)6622SNCABenignrs568436589RCV000292084|RCV001512808|RCV000874357; NMedGen:CN239359|MONDO:MONDO:0008200,MedGen:C1868595,OMIM:168601; MONDO:MONDO:0007488,MedGen:C0752347,OMIM:127750|MedGen:CN51720249074346090743460TCNC_000004.11:g.90743460T>CClinGen:CA3010114CN239359 Parkinson Disease, Dominant;
NM_000345.4(SNCA):c.225A>T (p.Thr75=)6622SNCAConflicting interpretations of pathogenicityrs149401968RCV001093381|RCV001463499; NMedGen:CN517202|MONDO:MONDO:0007488,MedGen:C0752347,OMIM:127750; MONDO:MONDO:0008200,MedGen:C1868595,OMIM:16860149074347890743478TA4:g.90743478T>A-
NM_000345.4(SNCA):c.216G>A (p.Thr72=)6622SNCAConflicting interpretations of pathogenicityrs144758871RCV000876367|RCV001087680|RCV001151997; NMedGen:CN517202|MONDO:MONDO:0007488,MedGen:C0752347,OMIM:127750; MONDO:MONDO:0008200,MedGen:C1868595,OMIM:168601|MedGen:CN23935949074348790743487CT4:g.90743487C>T-
NM_000345.4(SNCA):c.163+7T>G6622SNCALikely benignrs1578405610RCV000941906|RCV001400680; NMedGen:CN517202|MONDO:MONDO:0008200,MedGen:C1868595,OMIM:168601; MONDO:MONDO:0007488,MedGen:C0752347,OMIM:12775049074928790749287AC4:g.90749287A>C-
NM_000345.4(SNCA):c.163+6C>A6622SNCAUncertain significance-1RCV001886877; NMONDO:MONDO:0007488,MedGen:C0752347,OMIM:127750; MONDO:MONDO:0008200,MedGen:C1868595,OMIM:16860149074928890749288GT90749288-
NM_000345.4(SNCA):c.158C>T (p.Ala53Val)6622SNCAUncertain significance-1RCV001908618; NMONDO:MONDO:0008200,MedGen:C1868595,OMIM:168601; MONDO:MONDO:0007488,MedGen:C0752347,OMIM:12775049074929990749299GA90749299-
NM_000345.4(SNCA):c.157G>A (p.Ala53Thr)6622SNCAPathogenicrs104893877RCV000015044|RCV000526380; NMONDO:MONDO:0008200,MedGen:C1868595,OMIM:168601|MONDO:MONDO:0008200,MedGen:C1868595,OMIM:168601; MONDO:MONDO:0007488,MedGen:C0752347,OMIM:12775049074930090749300CT4:g.90749300C>TClinGen:CA257068,UniProtKB:P37840#VAR_007454,OMIM:163890.0001C0752347 127750 Lewy body dementia;
NM_000345.4(SNCA):c.156G>T (p.Val52=)6622SNCALikely benignrs148108612RCV000951877; NMONDO:MONDO:0008200,MedGen:C1868595,OMIM:168601; MONDO:MONDO:0007488,MedGen:C0752347,OMIM:12775049074930190749301CA4:g.90749301C>A-
NM_000345.4(SNCA):c.152G>A (p.Gly51Asp)6622SNCAPathogenicrs431905511RCV000083251; NMONDO:MONDO:0008200,MedGen:C1868595,OMIM:16860149074930590749305CT4:g.90749305C>TClinGen:CA267501,OMIM:163890.0006C1868595 168601 Parkinson disease 1;
NM_000345.4(SNCA):c.150T>G (p.His50Gln)6622SNCAUncertain significancers201106962RCV000149507|RCV000344706|RCV001301465; NMONDO:MONDO:0008200,MedGen:C1868595,OMIM:168601|MedGen:CN239359|MONDO:MONDO:0007488,MedGen:C0752347,OMIM:127750; MONDO:MONDO:0008200,MedGen:C1868595,OMIM:16860149074930790749307AC4:g.90749307A>COMIM:163890.0007,ClinGen:CA273048,UniProtKB:P37840#VAR_070171C1868595 168601 Parkinson disease 1;
NM_000345.4(SNCA):c.147G>A (p.Val49=)6622SNCALikely benignrs141859659RCV000946309; NMONDO:MONDO:0007488,MedGen:C0752347,OMIM:127750; MONDO:MONDO:0008200,MedGen:C1868595,OMIM:16860149074931090749310CT4:g.90749310C>T-
NM_000345.4(SNCA):c.122-2A>C6622SNCAUncertain significance-1RCV001875206; NMONDO:MONDO:0007488,MedGen:C0752347,OMIM:127750; MONDO:MONDO:0008200,MedGen:C1868595,OMIM:16860149074933790749337TG90749337-
NM_000345.4(SNCA):c.121+13C>T6622SNCALikely benign-1RCV002166483; NMONDO:MONDO:0008200,MedGen:C1868595,OMIM:168601; MONDO:MONDO:0007488,MedGen:C0752347,OMIM:12775049075668590756685GA90756685-
NM_000345.4(SNCA):c.121+11C>T6622SNCABenign/Likely benignrs35135226RCV001151998|RCV002070843; NMedGen:CN239359|MONDO:MONDO:0008200,MedGen:C1868595,OMIM:168601; MONDO:MONDO:0007488,MedGen:C0752347,OMIM:12775049075668790756687GA4:g.90756687G>A-
NM_000345.4(SNCA):c.100A>G (p.Lys34Glu)6622SNCAUncertain significancers1330229174RCV001300212; NMONDO:MONDO:0008200,MedGen:C1868595,OMIM:168601; MONDO:MONDO:0007488,MedGen:C0752347,OMIM:12775049075671990756719TC90756719-
NM_000345.4(SNCA):c.88G>C (p.Ala30Pro)6622SNCAPathogenicrs104893878RCV000015045; NMONDO:MONDO:0008200,MedGen:C1868595,OMIM:16860149075673190756731CG4:g.90756731C>GClinGen:CA257069,UniProtKB:P37840#VAR_007957,OMIM:163890.0002C1868595 168601 Parkinson disease 1;
NM_000345.4(SNCA):c.71A>G (p.Gln24Arg)6622SNCAUncertain significance-1RCV001359938; NMONDO:MONDO:0007488,MedGen:C0752347,OMIM:127750; MONDO:MONDO:0008200,MedGen:C1868595,OMIM:16860149075674890756748TC90756748-
NM_000345.4(SNCA):c.47T>C (p.Val16Ala)6622SNCAUncertain significancers1289802008RCV001307516; NMONDO:MONDO:0008200,MedGen:C1868595,OMIM:168601; MONDO:MONDO:0007488,MedGen:C0752347,OMIM:12775049075677290756772AG90756772-
NM_002772.3(TMPRSS15):c.2808_2809insATCA (p.Ser937fs)5651TMPRSS15Pathogenic-1RCV001844306; NMONDO:MONDO:0009173,MedGen:C0268416,OMIM:226200, Orphanet:168601211964760919647610AATGAT19647609-
NM_002772.3(TMPRSS15):c.2707_2708del (p.Val903fs)5651TMPRSS15Pathogenicrs780802518RCV000004384; NMONDO:MONDO:0009173,MedGen:C0268416,OMIM:226200, Orphanet:168601211965133719651338AACA21:g.19651337_19651338delOMIM:606635.0004C0268416 226200 Enterokinase deficiency;
NM_002772.3(TMPRSS15):c.2569C>T (p.Arg857Ter)5651TMPRSS15Pathogenicrs121908059RCV000004382; NMONDO:MONDO:0009173,MedGen:C0268416,OMIM:226200, Orphanet:168601211965345619653456GA21:g.19653456G>AClinGen:CA116668,OMIM:606635.0002C0268416 226200 Enterokinase deficiency;
NM_002772.3(TMPRSS15):c.2325del (p.Lys775fs)5651TMPRSS15Pathogenic/Likely pathogenicrs749950017RCV001250181|RCV001381367; NMONDO:MONDO:0009173,MedGen:C0268416,OMIM:226200, Orphanet:168601|MedGen:CN517202211966674819666748GTG21:g.19666748_19666748del-
NM_002772.3(TMPRSS15):c.2294del (p.Leu765fs)5651TMPRSS15Pathogenic/Likely pathogenicrs748851550RCV001250180|RCV001381368; NMONDO:MONDO:0009173,MedGen:C0268416,OMIM:226200, Orphanet:168601|MedGen:CN517202211966693719666937TAT21:g.19666937_19666937del-
NM_002772.3(TMPRSS15):c.2135C>G (p.Ser712Ter)5651TMPRSS15Conflicting interpretations of pathogenicityrs77200626RCV000004381|RCV000522000; NMONDO:MONDO:0009173,MedGen:C0268416,OMIM:226200, Orphanet:168601|MedGen:CN517202211968529219685292GC21:g.19685292G>CClinGen:CA116666,OMIM:606635.0001C0268416 226200 Enterokinase deficiency;
NM_002772.3(TMPRSS15):c.1922-1G>A5651TMPRSS15Likely pathogenic-1RCV001783880; NMONDO:MONDO:0009173,MedGen:C0268416,OMIM:226200, Orphanet:168601211968757419687574CT19687574-
NM_002772.3(TMPRSS15):c.1471G>A (p.Ala491Thr)5651TMPRSS15Uncertain significancers576287723RCV001328989; NMONDO:MONDO:0009173,MedGen:C0268416,OMIM:226200, Orphanet:168601211971382319713823CT19713823-
NM_002772.3(TMPRSS15):c.1428+2T>G5651TMPRSS15Pathogenicrs138221037RCV000184055; NMONDO:MONDO:0009173,MedGen:C0268416,OMIM:226200, Orphanet:168601211971582119715821ACNC_000021.8:g.19715821A>CClinGen:CA203863C0268416 226200 Enterokinase deficiency;
NM_002772.3(TMPRSS15):c.1391A>G (p.Tyr464Cys)5651TMPRSS15Uncertain significancers781154385RCV001328988; NMONDO:MONDO:0009173,MedGen:C0268416,OMIM:226200, Orphanet:168601211971586019715860TC19715860-
NM_002772.3(TMPRSS15):c.1350dup (p.Val451fs)5651TMPRSS15Pathogenic-1RCV001785070; NMONDO:MONDO:0009173,MedGen:C0268416,OMIM:226200, Orphanet:168601211971590019715901CCT19715900-
NM_002772.3(TMPRSS15):c.781C>T (p.Gln261Ter)5651TMPRSS15Pathogenicrs121908060RCV000004383; NMONDO:MONDO:0009173,MedGen:C0268416,OMIM:226200, Orphanet:168601211973217319732173GA21:g.19732173G>AClinGen:CA116670,OMIM:606635.0003C0268416 226200 Enterokinase deficiency;
NM_002772.3(TMPRSS15):c.151_155del (p.Ala51fs)5651TMPRSS15Likely pathogenicrs1555909961RCV000626320; NMONDO:MONDO:0009173,MedGen:C0268416,OMIM:226200, Orphanet:168601211977063719770641AAGTGCA21:g.19770637_19770641delClinGen:CA658799406C0268416 226200 Enterokinase deficiency;
NM_002772.3(TMPRSS15):c.44G>A (p.Ser15Asn)5651TMPRSS15Uncertain significancers61735772RCV001335060; NMONDO:MONDO:0009173,MedGen:C0268416,OMIM:226200, Orphanet:168601211977589619775896CT19775896-
MSeqDR Portal