PARK13
MCID: PRK096
MIFTS: 19

Parkinson Disease 13, Autosomal Dominant (PARK13)

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

Aliases & Classifications for Parkinson Disease 13, Autosomal Dominant

MalaCards integrated aliases for Parkinson Disease 13, Autosomal Dominant:

Name: Parkinson Disease 13, Autosomal Dominant 58
Parkinson Disease 13 58 76 30 13 6 74
Park13 58 76
Parkinson Disease 13, Autosomal Dominant, Susceptibility to 58
Parkinson Disease, Type 13 41

Characteristics:

HPO:

33
parkinson disease 13, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 610297
MeSH 45 D010300
MedGen 43 C1853202
UMLS 74 C3496588

Summaries for Parkinson Disease 13, Autosomal Dominant

UniProtKB/Swiss-Prot : 76 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, is also known as parkinson disease 13. 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

Symptoms & Phenotypes for Parkinson Disease 13, Autosomal Dominant

Human phenotypes related to Parkinson Disease 13, Autosomal Dominant:

33
# Description HPO Frequency HPO Source Accession
1 tremor 33 HP:0001337
2 rigidity 33 HP:0002063
3 bradykinesia 33 HP:0002067
4 parkinsonism with favorable response to dopaminergic medication 33 HP:0002548

Clinical features from OMIM:

610297

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 30 HTRA2

Anatomical Context for Parkinson Disease 13, Autosomal Dominant

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

42
Brain

Publications for Parkinson Disease 13, Autosomal Dominant

Articles related to Parkinson Disease 13, Autosomal Dominant:

# Title Authors Year
1
Novel variant Pro143Ala in HTRA2 contributes to Parkinson's disease by inducing hyperphosphorylation of HTRA2 protein in mitochondria. ( 21701785 )
2011
2
Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls. ( 18364387 )
2008
3
Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson disease. ( 18401856 )
2008
4
Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. ( 15961413 )
2005

Variations for Parkinson Disease 13, Autosomal Dominant

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

76
# 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.1195G> A (p.Gly399Ser) single nucleotide variant Likely benign rs72470545 GRCh37 Chromosome 2, 74759825: 74759825
2 HTRA2 NM_013247.4(HTRA2): c.1195G> A (p.Gly399Ser) single nucleotide variant Likely benign rs72470545 GRCh38 Chromosome 2, 74532698: 74532698
3 HTRA2 NM_013247.4(HTRA2): c.421G> T (p.Ala141Ser) single nucleotide variant Likely benign rs72470544 GRCh37 Chromosome 2, 74757554: 74757554
4 HTRA2 NM_013247.4(HTRA2): c.421G> T (p.Ala141Ser) single nucleotide variant Likely benign rs72470544 GRCh38 Chromosome 2, 74530427: 74530427
5 HTRA2 NM_013247.4(HTRA2): c.427C> G (p.Pro143Ala) single nucleotide variant risk factor rs387906942 GRCh37 Chromosome 2, 74757560: 74757560
6 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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