PARK13
MCID: PRK096
MIFTS: 23

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 57
Parkinson Disease 13 57 74 29 13 6 72
Park13 57 74
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:

MeSH 44 D010300
MedGen 42 C1853202
UMLS 72 C3496588

Summaries for Parkinson Disease 13, Autosomal Dominant

UniProtKB/Swiss-Prot : 74 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). The drugs Dopamine and Levodopa have been mentioned in the context of this disorder. Affiliated tissues include brain, and related phenotypes are tremor and rigidity

More information from OMIM: 610297 PS168600

Symptoms & Phenotypes for Parkinson Disease 13, Autosomal Dominant

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

Clinical features from OMIM:

610297

Drugs & Therapeutics for Parkinson Disease 13, Autosomal Dominant

Drugs for Parkinson Disease 13, Autosomal Dominant (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 2 51-61-6, 62-31-7 681
2
Levodopa Approved Phase 2 59-92-7 6047
3 Dopamine Agents Phase 2
4 Dihydroxyphenylalanine Phase 2
5 Neurotransmitter Agents Phase 2
6 Antiparkinson Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 13-week, Double-blind, Placebo-controlled, Fixed-dose, Multicenter Study to Evaluate the Efficacy and Safety of AFQ056 in Reducing Moderate to Severe L-dopa Induced Dyskinesias in Patients With Parkinson's Disease Completed NCT00986414 Phase 2 AFQ056;AFQ056;AFQ056;AFQ056;AFQ056;Placebo

Search 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

Articles related to Parkinson Disease 13, Autosomal Dominant:

# Title Authors PMID Year
1
Sequencing analysis of OMI/HTRA2 shows previously reported pathogenic mutations in neurologically normal controls. 8 71
18364387 2008
2
Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. 8 71
15961413 2005
3
EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 71
23279440 2013
4
Novel variant Pro143Ala in HTRA2 contributes to Parkinson's disease by inducing hyperphosphorylation of HTRA2 protein in mitochondria. 71
21701785 2011
5
Genetic variability in the mitochondrial serine protease HTRA2 contributes to risk for Parkinson disease. 71
18401856 2008
6
Parkinson Disease Overview 71
20301402 2004
7
Bornaprine vs placebo in Parkinson disease: double-blind controlled cross-over trial in 30 patients. 38
3514543 1986

Variations for Parkinson Disease 13, Autosomal Dominant

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 HTRA2 NM_013247.4(HTRA2): c.427C> G (p.Pro143Ala) single nucleotide variant risk factor rs387906942 2:74757560-74757560 2:74530433-74530433
2 HTRA2 NM_013247.4(HTRA2): c.1195G> A (p.Gly399Ser) single nucleotide variant Likely benign rs72470545 2:74759825-74759825 2:74532698-74532698
3 HTRA2 NM_013247.4(HTRA2): c.421G> T (p.Ala141Ser) single nucleotide variant Likely benign rs72470544 2:74757554-74757554 2:74530427-74530427

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

74
# Symbol AA change Variation ID SNP ID
1 HTRA2 p.Arg404Trp VAR_046135

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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....