MCID: PRK021
MIFTS: 15

Parkinson Disease 7, Autosomal Recessive Early-Onset malady

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

Summaries for Parkinson Disease 7, Autosomal Recessive Early-Onset

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MalaCards based summary: Parkinson Disease 7, Autosomal Recessive Early-Onset is related to park7-related parkinson disease, 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:46 606324

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

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

Name: Parkinson Disease 7, Autosomal Recessive Early-Onset 46


Classifications:



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

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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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Drug clinical trials:

Search ClinicalTrials for Parkinson Disease 7, Autosomal Recessive Early-Onset

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:

63
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:

7
id Gene Name Type Significance SNP ID Assembly Location
1PARK7NM_007262.4(PARK7): c.487G> A (p.Glu163Lys)single nucleotide variantPathogenicrs74315354GRCh37Chr 1, 8045031: 8045031
2PARK7nsv513788deletionPathogenic
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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Expression patterns in normal tissues for genes affiliated with Parkinson Disease 7, Autosomal Recessive Early-Onset

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

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  • Antibodies
  • Proteins
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  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Parkinson Disease 7, Autosomal Recessive Early-Onset

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet