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 52 12 68
Parkinson Disease 7 70 27
Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex Type 2 70
 
Autosomal Recessive Early-Onset Parkinson Disease Type 7 70
Autosomal Recessive Early-Onset Parkinson Disease 7 11
Park7 70

Characteristics:

HPO:

64
parkinson disease 7, autosomal recessive early-onset:
Inheritance: autosomal recessive inheritance
Onset and clinical course: adult onset, slow progression

Classifications:



External Ids:

OMIM52 606324
Disease Ontology11 DOID:0060370
MedGen37 C1853445

Summaries for Parkinson Disease 7, Autosomal Recessive Early-Onset

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UniProtKB/Swiss-Prot:70 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 blepharospasm, psychotic episodes and anxiety. An important gene associated with Parkinson Disease 7, Autosomal Recessive Early-Onset is PARK7 (Parkinsonism Associated Deglycase).

Disease Ontology:11 A Parkinson's disease that has material basis in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36.

Description from OMIM:52 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 26)
idRelated DiseaseScoreTop Affiliating Genes
1parkinson disease, late-onset11.6
2amyotrophic lateral sclerosis-parkinsonism/dementia complex11.0
3dementia11.0
4dementia, lewy body10.9
5supranuclear palsy, progressive10.9
6movement disease10.9
7kufor-rakeb syndrome10.8
8parkinson disease 6, early onset10.8
9parkinson disease 1010.8
10parkinson disease 110.8
11parkinson disease 810.8
12parkinson disease 15, autosomal recessive10.8
13parkinson disease susceptibility10.8
14snca-related parkinson disease10.8
15parkinson disease, juvenile, type 210.7
16synucleinopathy10.7
17bardet-biedl syndrome10.7
18nervous system disease10.7
19park7-related parkinson disease10.7
20neuronitis9.9
21renal cell carcinoma9.8
22celiac disease9.8
23adenocarcinoma9.8
24malignant pleural mesothelioma9.8
25clear cell renal cell carcinoma9.8
26ataxia9.8

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 & Phenotypes for Parkinson Disease 7, Autosomal Recessive Early-Onset

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Symptoms by clinical synopsis from OMIM:

606324

Clinical features from OMIM:

606324

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

 64 (show all 7)
id Description HPO Frequency HPO Source Accession
1 blepharospasm64 HP:0000643
2 psychotic episodes64 HP:0000725
3 anxiety64 HP:0000739
4 rigidity64 HP:0002063
5 bradykinesia64 HP:0002067
6 postural tremor64 HP:0002174
7 resting tremor64 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 727

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

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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:

70
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)SNVPathogenicrs28938172GRCh37Chr 1, 8045041: 8045041
3PARK7NM_007262.4(PARK7): c.78G> A (p.Met26Ile)SNVPathogenicrs74315351GRCh37Chr 1, 8022923: 8022923
4PARK7NM_007262.4(PARK7): c.446A> C (p.Asp149Ala)SNVPathogenicrs74315352GRCh37Chr 1, 8044990: 8044990
5PARK7NM_007262.4(PARK7): c.192G> C (p.Glu64Asp)SNVPathogenicrs74315353GRCh37Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet