PARK22
MCID: PRK083
MIFTS: 20

Parkinson Disease 22, Autosomal Dominant (PARK22)

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

Aliases & Classifications for Parkinson Disease 22, Autosomal Dominant

MalaCards integrated aliases for Parkinson Disease 22, Autosomal Dominant:

Name: Parkinson Disease 22, Autosomal Dominant 58 76 30 6
Park22 58 76
Autosomal Dominant Parkinson's Disease 22 12
Parkinson Disease 22 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset of parkinson disease from 40 to 67 years
levodopa responsive


HPO:

33
parkinson disease 22, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080504
OMIM 58 616710
MeSH 45 D020734

Summaries for Parkinson Disease 22, Autosomal Dominant

UniProtKB/Swiss-Prot : 76 Parkinson disease 22: An autosomal dominant form of Parkinson disease, 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 22, Autosomal Dominant, is also known as park22. An important gene associated with Parkinson Disease 22, Autosomal Dominant is CHCHD2 (Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 2). Affiliated tissues include brain, and related phenotypes are gait disturbance and hyperreflexia

Disease Ontology : 12 A late onset Parkinson's disease that has material basis in heterozygous mutation in the CHCHD2 gene on chromosome 7p11.2.

Description from OMIM: 616710

Symptoms & Phenotypes for Parkinson Disease 22, Autosomal Dominant

Human phenotypes related to Parkinson Disease 22, Autosomal Dominant:

33
# Description HPO Frequency HPO Source Accession
1 gait disturbance 33 HP:0001288
2 hyperreflexia 33 HP:0001347
3 bradykinesia 33 HP:0002067
4 resting tremor 33 HP:0002322

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
gait disturbance
hyperreflexia
bradykinesia
resting tremor
fine tremor (in one 10-year-old child)

Cardiovascular Vascular:
orthostatic hypotension

Abdomen Gastrointestinal:
constipation

Clinical features from OMIM:

616710

Drugs & Therapeutics for Parkinson Disease 22, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Parkinson Disease 22, Autosomal Dominant

Genetic Tests for Parkinson Disease 22, Autosomal Dominant

Genetic tests related to Parkinson Disease 22, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Parkinson Disease 22, Autosomal Dominant 30 CHCHD2

Anatomical Context for Parkinson Disease 22, Autosomal Dominant

MalaCards organs/tissues related to Parkinson Disease 22, Autosomal Dominant:

42
Brain

Publications for Parkinson Disease 22, Autosomal Dominant

Articles related to Parkinson Disease 22, Autosomal Dominant:

# Title Authors Year
1
CHCHD2 and Parkinson's disease. ( 26067113 )
2015
2
CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. ( 25662902 )
2015

Variations for Parkinson Disease 22, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease 22, Autosomal Dominant:

76
# Symbol AA change Variation ID SNP ID
1 CHCHD2 p.Thr61Ile VAR_076299 rs864309650

ClinVar genetic disease variations for Parkinson Disease 22, Autosomal Dominant:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CHCHD2 NM_001320327.1(CHCHD2): c.182C> T (p.Thr61Ile) single nucleotide variant Pathogenic rs864309650 GRCh37 Chromosome 7, 56172037: 56172037
2 CHCHD2 NM_001320327.1(CHCHD2): c.182C> T (p.Thr61Ile) single nucleotide variant Pathogenic rs864309650 GRCh38 Chromosome 7, 56104344: 56104344
3 CHCHD2 NM_001320327.1(CHCHD2): c.434G> A (p.Arg145Gln) single nucleotide variant Pathogenic rs752169833 GRCh38 Chromosome 7, 56102878: 56102878
4 CHCHD2 NM_001320327.1(CHCHD2): c.434G> A (p.Arg145Gln) single nucleotide variant Pathogenic rs752169833 GRCh37 Chromosome 7, 56170571: 56170571
5 CHCHD2 NM_001320327.1(CHCHD2): c.300+5G> A single nucleotide variant Pathogenic rs750014782 GRCh38 Chromosome 7, 56104221: 56104221
6 CHCHD2 NM_001320327.1(CHCHD2): c.300+5G> A single nucleotide variant Pathogenic rs750014782 GRCh37 Chromosome 7, 56171914: 56171914

Expression for Parkinson Disease 22, Autosomal Dominant

Search GEO for disease gene expression data for Parkinson Disease 22, Autosomal Dominant.

Pathways for Parkinson Disease 22, Autosomal Dominant

GO Terms for Parkinson Disease 22, Autosomal Dominant

Sources for Parkinson Disease 22, 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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