MCID: PRK021
MIFTS: 28

Parkinson Disease 7, Autosomal Recessive Early-Onset malady

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

Aliases & Classifications for Parkinson Disease 7, Autosomal Recessive Early-Onset

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Aliases & Descriptions for Parkinson Disease 7, Autosomal Recessive Early-Onset:

Name: Parkinson Disease 7, Autosomal Recessive Early-Onset 49 11 65
Parkinson Disease 7 67 24
Park7 10 67
 
Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex Type 2 67
Autosomal Recessive Early-Onset Parkinson Disease Type 7 67
Autosomal Recessive Early-Onset Parkinson Disease 7 10

Characteristics:

HPO:

61
parkinson disease 7, autosomal recessive early-onset:
Onset and clinical course: slow progression, adult onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 606324
Disease Ontology10 DOID:0060370
MedGen34 C1853445
UMLS65 C1853445

Summaries for Parkinson Disease 7, Autosomal Recessive Early-Onset

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UniProtKB/Swiss-Prot:67 Parkinson disease 7: A neurodegenerative disorder characterized by resting tremor, postural tremor, bradykinesia, muscular rigidity, anxiety and psychotic episodes. PARK7 has onset before 40 years, slow progression and initial good response to levodopa. Some patients may show traits reminiscent of amyotrophic lateral sclerosis-parkinsonism/dementia complex (Guam disease).

MalaCards based summary: Parkinson Disease 7, Autosomal Recessive Early-Onset, also known as parkinson disease 7, is related to parkinson disease, late-onset and dementia, and has symptoms including resting tremor, postural tremor and bradykinesia. An important gene associated with Parkinson Disease 7, Autosomal Recessive Early-Onset is PARK7 (Parkinsonism Associated Deglycase).

Disease Ontology:10 A Parkinson's disease caused by homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36.

Description from OMIM:49 606324

Related Diseases for Parkinson Disease 7, Autosomal Recessive Early-Onset

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Diseases in the Parkinson Disease, Late-Onset family:

parkinson disease 7, autosomal recessive early-onset Parkinson Disease 6, Early Onset
Parkinson Disease 19, Juvenile-Onset Parkinson Disease 10
Parkinson Disease 16 Parkinson Disease 13
Parkinson Disease 11 Parkinson Disease 21
Parkinson Disease 18 Parkinson Disease 5
Parkinson Disease 4 Parkinson Disease 1
Parkinson Disease, Juvenile, Type 2 Parkinson Disease 8
Parkinson Disease 17 Parkinson Disease 20, Early-Onset
Parkinson Disease 15, Autosomal Recessive Parkinson Disease 14, Autosomal Recessive
Parkinson Disease 12 Lrrk2-Related Parkinson Disease
Parkinson Disease Type 3 Parkinson Disease Type 9
Dnajc6-Related Parkinson Disease Eif4g1-Related Parkinson Disease
Gigyf2-Related Parkinson Disease Pla2g6-Related Parkinson Disease
Synj1-Related Parkinson Disease Fbxo7-Related Parkinson Disease
Htra2-Related Parkinson Disease Park7-Related Parkinson Disease
Snca-Related Parkinson Disease Vps35-Related Parkinson Disease
Hereditary Late-Onset Parkinson Disease

Diseases related to Parkinson Disease 7, Autosomal Recessive Early-Onset via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
idRelated DiseaseScoreTop Affiliating Genes
1parkinson disease, late-onset11.8
2dementia11.5
3dementia, lewy body11.4
4amyotrophic lateral sclerosis-parkinsonism/dementia complex11.4
5supranuclear palsy, progressive11.4
6movement disease11.4
7tauopathy11.4
8parkinson disease 6, early onset11.3
9parkinson disease 111.3
10parkinson disease 811.3
11parkinson disease 15, autosomal recessive11.3
12parkinson disease susceptibility11.3
13snca-related parkinson disease11.3
14parkinson disease, juvenile, type 211.2
15synucleinopathy11.2
16central nervous system disease11.2
17nervous system disease11.2
18park7-related parkinson disease11.2
19obesity10.2
20renal cell carcinoma10.2
21tetralogy of fallot10.2
22frey syndrome10.2
23laryngeal carcinoma10.2
24anuria10.2
25adenocarcinoma10.2
26laryngitis10.2
27peroneal neuropathy10.2
28neuropathy10.2
29learning disability10.2
30horseshoe kidney10.2
31pulmonary sequestration10.2

Graphical network of the top 20 diseases related to Parkinson Disease 7, Autosomal Recessive Early-Onset:



Diseases related to parkinson disease 7, autosomal recessive early-onset

Symptoms for Parkinson Disease 7, Autosomal Recessive Early-Onset

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Symptoms by clinical synopsis from OMIM:

606324

Clinical features from OMIM:

606324

HPO human phenotypes related to Parkinson Disease 7, Autosomal Recessive Early-Onset:

(show all 7)
id Description Frequency HPO Source Accession
1 resting tremor HP:0002322
2 postural tremor HP:0002174
3 bradykinesia HP:0002067
4 rigidity HP:0002063
5 anxiety HP:0000739
6 psychotic episodes HP:0000725
7 blepharospasm HP:0000643

Drugs & Therapeutics for Parkinson Disease 7, Autosomal Recessive Early-Onset

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Hereditary Parkinson s Disease Natural History ProtocolRecruitingNCT02511015

Search NIH Clinical Center for Parkinson Disease 7, Autosomal Recessive Early-Onset

Genetic Tests for Parkinson Disease 7, Autosomal Recessive Early-Onset

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Anatomical Context for Parkinson Disease 7, Autosomal Recessive Early-Onset

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Animal Models for Parkinson Disease 7, Autosomal Recessive Early-Onset or affiliated genes

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Publications for Parkinson Disease 7, Autosomal Recessive Early-Onset

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Variations for Parkinson Disease 7, Autosomal Recessive Early-Onset

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UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease 7, Autosomal Recessive Early-Onset:

67
id Symbol AA change Variation ID SNP ID
1PARK7p.Met26IleVAR_020492
2PARK7p.Glu64AspVAR_020493
3PARK7p.Ala104ThrVAR_020495
4PARK7p.Asp149AlaVAR_020496rs74315352
5PARK7p.Leu166ProVAR_020498rs28938172

Clinvar genetic disease variations for Parkinson Disease 7, Autosomal Recessive Early-Onset:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PARK7NM_007262.4(PARK7): c.487G> A (p.Glu163Lys)single nucleotide variantPathogenicrs74315354GRCh37Chr 1, 8045031: 8045031
2PARK7NC_000001.10deletionPathogenicGRCh37Chr 1, 8018845: 8044954
3PARK7NM_007262.4(PARK7): c.497T> C (p.Leu166Pro)single nucleotide variantPathogenicrs28938172GRCh37Chr 1, 8045041: 8045041
4PARK7NM_007262.4(PARK7): c.78G> A (p.Met26Ile)single nucleotide variantPathogenicrs74315351GRCh37Chr 1, 8022923: 8022923
5PARK7NM_007262.4(PARK7): c.446A> C (p.Asp149Ala)single nucleotide variantPathogenicrs74315352GRCh37Chr 1, 8044990: 8044990
6PARK7NM_007262.4(PARK7): c.192G> C (p.Glu64Asp)single nucleotide variantPathogenicrs74315353GRCh37Chr 1, 8025485: 8025485

Expression for genes affiliated with Parkinson Disease 7, Autosomal Recessive Early-Onset

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Search GEO for disease gene expression data for Parkinson Disease 7, Autosomal Recessive Early-Onset.

Pathways for genes affiliated with Parkinson Disease 7, Autosomal Recessive Early-Onset

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GO Terms for genes affiliated with Parkinson Disease 7, Autosomal Recessive Early-Onset

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Sources for Parkinson Disease 7, Autosomal Recessive Early-Onset

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet