MCID: PRK083
MIFTS: 16

Parkinson Disease 22, Autosomal Dominant

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

Aliases & Classifications for Parkinson Disease 22, Autosomal Dominant

MalaCards integrated aliases for Parkinson Disease 22, Autosomal Dominant:

Name: Parkinson Disease 22, Autosomal Dominant 57 75 6
Park22 57 75
Parkinson Disease 22 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


Classifications:



External Ids:

OMIM 57 616710
MedGen 42 CN234663
MeSH 44 D020734

Summaries for Parkinson Disease 22, Autosomal Dominant

UniProtKB/Swiss-Prot : 75 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.

Description from OMIM: 616710

Symptoms & Phenotypes for Parkinson Disease 22, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
Cardiovascular Vascular:
orthostatic hypotension

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

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

Anatomical Context for Parkinson Disease 22, Autosomal Dominant

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

41
Brain

Publications for Parkinson Disease 22, Autosomal Dominant

Variations for Parkinson Disease 22, Autosomal Dominant

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

75
# 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 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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