PARK22
MCID: PRK083
MIFTS: 26

Parkinson Disease 22, Autosomal Dominant (PARK22)

Categories: Eye diseases, 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 57 72 29 6
Parkinson's Disease 22 12 15
Park22 57 72
Autosomal Dominant Parkinson's Disease 22 12
Parkinson Disease 22 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
parkinson disease 22, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080504
OMIM® 57 616710
OMIM Phenotypic Series 57 PS168600
MeSH 44 D020734

Summaries for Parkinson Disease 22, Autosomal Dominant

UniProtKB/Swiss-Prot : 72 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, also known as parkinson's disease 22, is related to parkinson disease, late-onset and amelogenesis imperfecta. An important gene associated with Parkinson Disease 22, Autosomal Dominant is CHCHD2 (Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing 2). Affiliated tissues include eye, and related phenotypes are hyperreflexia and gait disturbance

Disease Ontology : 12 A late onset Parkinson's disease that has material basis in autosomal dominant inheritance of heterozygous mutation in the coiled-coil-helix-coiled-coil-helix domain containing 2 gene on chromosome 7p11.2.

More information from OMIM: 616710 PS168600

Related Diseases for Parkinson Disease 22, Autosomal Dominant

Symptoms & Phenotypes for Parkinson Disease 22, Autosomal Dominant

Human phenotypes related to Parkinson Disease 22, Autosomal Dominant:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 31 HP:0001347
2 gait disturbance 31 HP:0001288
3 constipation 31 HP:0002019
4 orthostatic hypotension 31 HP:0001278
5 bradykinesia 31 HP:0002067
6 resting tremor 31 HP:0002322

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
hyperreflexia
gait disturbance
bradykinesia
resting tremor
fine tremor (in one 10-year-old child)

Cardiovascular Vascular:
orthostatic hypotension

Abdomen Gastrointestinal:
constipation

Clinical features from OMIM®:

616710 (Updated 20-May-2021)

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 29 CHCHD2

Anatomical Context for Parkinson Disease 22, Autosomal Dominant

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

40
Eye

Publications for Parkinson Disease 22, Autosomal Dominant

Articles related to Parkinson Disease 22, Autosomal Dominant:

# Title Authors PMID Year
1
CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. 57 6
25662902 2015
2
CHCHD2 harboring Parkinson's disease-linked T61I mutation precipitates inside mitochondria and induces precipitation of wild-type CHCHD2. 6
32068847 2020
3
CHCHD2 and Parkinson's disease. 6
26067113 2015
4
Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. 57
19915576 2009
5
Homeostatic p62 levels and inclusion body formation in CHCHD2 knockout mice. 61
33631794 2021
6
Herbicide-resistant transgenic creeping bentgrass plants obtained by electroporation using an altered buffer. 61
30736548 1998
7
Stable transformation of Eustoma grandiflorum by particle bombardment. 61
30736626 1998

Variations for Parkinson Disease 22, Autosomal Dominant

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CHCHD2 NM_016139.4(CHCHD2):c.434G>A (p.Arg145Gln) SNV Pathogenic 218883 rs752169833 GRCh37: 7:56170571-56170571
GRCh38: 7:56102878-56102878
2 CHCHD2 NM_016139.4(CHCHD2):c.300+5G>A SNV Pathogenic 218884 rs750014782 GRCh37: 7:56171914-56171914
GRCh38: 7:56104221-56104221
3 CHCHD2 NM_016139.4(CHCHD2):c.182C>T (p.Thr61Ile) SNV Pathogenic 218882 rs864309650 GRCh37: 7:56172037-56172037
GRCh38: 7:56104344-56104344

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

72
# Symbol AA change Variation ID SNP ID
1 CHCHD2 p.Thr61Ile VAR_076299 rs864309650

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

Cellular components related to Parkinson Disease 22, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex GO:0032991 8.62 DHX9 ALB

Sources for Parkinson Disease 22, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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