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 50 12 66
Parkinson Disease 7 68 25
Park7 11 68
 
Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex Type 2 68
Autosomal Recessive Early-Onset Parkinson Disease Type 7 68
Autosomal Recessive Early-Onset Parkinson Disease 7 11

Characteristics:

HPO:

62
parkinson disease 7, autosomal recessive early-onset:
Inheritance: autosomal recessive inheritance
Onset and clinical course: adult onset, slow progression


Classifications:



External Ids:

OMIM50 606324
Disease Ontology11 DOID:0060370
MedGen35 C1853445

Summaries for Parkinson Disease 7, Autosomal Recessive Early-Onset

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UniProtKB/Swiss-Prot:68 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 amyotrophic lateral sclerosis-parkinsonism/dementia complex, and has symptoms including muscle rigidity, muscle rigidity and bradykinesia. An important gene associated with Parkinson Disease 7, Autosomal Recessive Early-Onset is PARK7 (Parkinsonism Associated Deglycase).

Disease Ontology:11 A parkinson's disease caused by homozygous or compound heterozygous mutation in the dj1 gene on chromosome 1p36.

Description from OMIM:50 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 Parkinson Disease 22
Parkinson Disease 23, Autosomal Recessive, Early Onset

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

(show all 23)
idRelated DiseaseScoreTop Affiliating Genes
1parkinson disease, late-onset11.4
2amyotrophic lateral sclerosis-parkinsonism/dementia complex11.1
3supranuclear palsy, progressive11.0
4kufor-rakeb syndrome10.9
5parkinson disease 6, early onset10.9
6parkinson disease 1010.9
7parkinson disease 110.9
8parkinson disease 810.9
9parkinson disease 15, autosomal recessive10.9
10parkinson disease susceptibility10.9
11parkinson disease, juvenile, type 210.8
12synucleinopathy10.8
13bardet-biedl syndrome10.8
14central nervous system disease10.8
15nervous system disease10.8
16park7-related parkinson disease10.8
17neuronitis10.0
18renal cell carcinoma9.9
19celiac disease9.9
20adenocarcinoma9.9
21malignant pleural mesothelioma9.9
22clear cell renal cell carcinoma9.9
23ataxia9.9

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 blepharospasm HP:0000643
2 psychotic episodes HP:0000725
3 anxiety HP:0000739
4 rigidity HP:0002063
5 bradykinesia HP:0002067
6 postural tremor HP:0002174
7 resting tremor HP:0002322

UMLS symptoms related to Parkinson Disease 7, Autosomal Recessive Early-Onset:


muscle rigidity, bradykinesia, static tremor

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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Genetic tests related to Parkinson Disease 7, Autosomal Recessive Early-Onset:

id Genetic test Affiliating Genes
1 Parkinson Disease 725

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:

68
id Symbol AA change Variation ID SNP ID
1PARK7p.Met26IleVAR_020492rs74315351
2PARK7p.Glu64AspVAR_020493rs74315353
3PARK7p.Ala104ThrVAR_020495rs774005786
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
1PARK7NC_000001.10deletionPathogenicGRCh37Chr 1, 8018845: 8044954
2PARK7NM_007262.4(PARK7): c.497T> C (p.Leu166Pro)single nucleotide variantPathogenicrs28938172GRCh37Chr 1, 8045041: 8045041
3PARK7NM_007262.4(PARK7): c.78G> A (p.Met26Ile)single nucleotide variantPathogenicrs74315351GRCh37Chr 1, 8022923: 8022923
4PARK7NM_007262.4(PARK7): c.446A> C (p.Asp149Ala)single nucleotide variantPathogenicrs74315352GRCh37Chr 1, 8044990: 8044990
5PARK7NM_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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet