MCID: PRK021
MIFTS: 22

Parkinson Disease 7, Autosomal Recessive Early-Onset malady

Genetic diseases, Mental diseases, Rare diseases, Neuronal diseases, Metabolic diseases categories

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
Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex Type 2 67
Autosomal Recessive Early-Onset Parkinson Disease Type 7 67
 
Parkinson Disease 7 67
Park7 67


Classifications:



External Ids:

OMIM49 606324
MedGen34 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 amyotrophic lateral sclerosis-parkinsonism/dementia complex type 2, is related to young-onset parkinson disease and parkinson disease, late-onset, and has symptoms including autosomal recessive inheritance, blepharospasm and psychotic episodes. An important gene associated with Parkinson Disease 7, Autosomal Recessive Early-Onset is PARK7 (Parkinson Protein 7).

Description from OMIM:49 606324

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

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Graphical network of 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 10)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 blepharospasm HP:0000643
3 psychotic episodes HP:0000725
4 anxiety HP:0000739
5 rigidity HP:0002063
6 bradykinesia HP:0002067
7 postural tremor HP:0002174
8 resting tremor HP:0002322
9 adult onset HP:0003581
10 slow progression HP:0003677

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