MCID: PRK096
MIFTS: 19

Parkinson Disease 13, Autosomal Dominant

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Mental diseases, Metabolic diseases

Aliases & Classifications for Parkinson Disease 13, Autosomal Dominant

MalaCards integrated aliases for Parkinson Disease 13, Autosomal Dominant:

Name: Parkinson Disease 13, Autosomal Dominant 57
Parkinson Disease 13 57 75 29 13 6 73
Park13 57 75
Parkinson Disease 13, Autosomal Dominant, Susceptibility to 57
Parkinson Disease, Type 13 40

Characteristics:

HPO:

32
parkinson disease 13, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 610297
MedGen 42 C1853202
MeSH 44 D010300
UMLS 73 C3496588

Summaries for Parkinson Disease 13, Autosomal Dominant

UniProtKB/Swiss-Prot : 75 Parkinson disease 13: A complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain.

MalaCards based summary : Parkinson Disease 13, Autosomal Dominant, also known as parkinson disease 13, is related to neuronitis. An important gene associated with Parkinson Disease 13, Autosomal Dominant is HTRA2 (HtrA Serine Peptidase 2). Affiliated tissues include brain, and related phenotypes are tremor and rigidity

Description from OMIM: 610297

Related Diseases for Parkinson Disease 13, Autosomal Dominant

Symptoms & Phenotypes for Parkinson Disease 13, Autosomal Dominant

Clinical features from OMIM:

610297

Human phenotypes related to Parkinson Disease 13, Autosomal Dominant:

32
# Description HPO Frequency HPO Source Accession
1 tremor 32 HP:0001337
2 rigidity 32 HP:0002063
3 bradykinesia 32 HP:0002067
4 parkinsonism with favorable response to dopaminergic medication 32 HP:0002548

Drugs & Therapeutics for Parkinson Disease 13, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Parkinson Disease 13, Autosomal Dominant

Genetic Tests for Parkinson Disease 13, Autosomal Dominant

Genetic tests related to Parkinson Disease 13, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Parkinson Disease 13 29 HTRA2

Anatomical Context for Parkinson Disease 13, Autosomal Dominant

MalaCards organs/tissues related to Parkinson Disease 13, Autosomal Dominant:

41
Brain

Publications for Parkinson Disease 13, Autosomal Dominant

Variations for Parkinson Disease 13, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease 13, Autosomal Dominant:

75
# Symbol AA change Variation ID SNP ID
1 HTRA2 p.Arg404Trp VAR_046135

ClinVar genetic disease variations for Parkinson Disease 13, Autosomal Dominant:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HTRA2 NM_013247.4(HTRA2): c.427C> G (p.Pro143Ala) single nucleotide variant risk factor rs387906942 GRCh37 Chromosome 2, 74757560: 74757560
2 HTRA2 NM_013247.4(HTRA2): c.427C> G (p.Pro143Ala) single nucleotide variant risk factor rs387906942 GRCh38 Chromosome 2, 74530433: 74530433

Expression for Parkinson Disease 13, Autosomal Dominant

Search GEO for disease gene expression data for Parkinson Disease 13, Autosomal Dominant.

Pathways for Parkinson Disease 13, Autosomal Dominant

GO Terms for Parkinson Disease 13, Autosomal Dominant

Sources for Parkinson Disease 13, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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