MSeqDR Mitochondrial Disease Portal


 
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Parent Node:
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Parkinson Disease (D010300)
..Starting node
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PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO (OMIM:610297)

       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:9544
Name:PARKINSON DISEASE 13, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
Definition:
Alternative IDs:
ParentIDs:MESH:D010300
TreeNumbers:C10.228.140.079.862.500/610297 |C10.228.662.600.400/610297 |C10.574.812/610297
Synonyms:PARK13
Slim Mappings:Nervous system disease
Reference: MedGen: 610297
MeSH: 610297
OMIM: 610297;
MSeqDR LSDB:  
Genes: HTRA2; PC;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0002067Bradykinesia
3 HP:0002548Parkinsonism with favorable response to dopaminergic medication
4 HP:0002063Rigidity
5 HP:0001337Tremor
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_013247.4(HTRA2):c.421G>T (p.Ala141Ser)27429HTRA2Likely benign72470544RCV000350704; RCV000004590; NMedGen:CN239359; MedGen:C1853202,OMIM:61029727475755474757554OMIM Allelic Variant:606441.0002,UniProtKB (protein):O43464#VAR_027349C1853202 610297 Parkinson disease 13;
NM_013247.4(HTRA2):c.427C>G (p.Pro143Ala)27429HTRA2risk factor387906942RCV000023546; NMedGen:C1853202,OMIM:61029727475756074757560OMIM Allelic Variant:606441.0003C1853202 610297 Parkinson disease 13;
NM_013247.4(HTRA2):c.1195G>A (p.Gly399Ser)27429HTRA2Likely benign72470545RCV000272950; RCV000004589; NMedGen:CN239359; MedGen:C1853202,OMIM:61029727475982574759825OMIM Allelic Variant:606441.0001,UniProtKB (protein):O43464#VAR_027350C1853202 610297 Parkinson disease 13;
MSeqDR Portal