PARK7
MCID: PRK021
MIFTS: 28

Parkinson Disease 7, Autosomal Recessive Early-Onset (PARK7) malady

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

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

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

Name: Parkinson Disease 7, Autosomal Recessive Early-Onset 54 13 69
Parkinson Disease 7 66 29
Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex Type 2 66
Autosomal Recessive Early-Onset Parkinson Disease Type 7 66
Autosomal Recessive Early-Onset Parkinson Disease 7 12
Park7 66

Characteristics:

HPO:

32
parkinson disease 7, autosomal recessive early-onset:
Inheritance autosomal recessive inheritance
Onset and clinical course adult onset slow progression


Classifications:



External Ids:

OMIM 54 606324
Disease Ontology 12 DOID:0060370
MedGen 40 C1853445

Summaries for Parkinson Disease 7, Autosomal Recessive Early-Onset

UniProtKB/Swiss-Prot : 66 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 early-onset parkinson disease, and has symptoms including bradykinesia, anxiety and psychotic episodes. An important gene associated with Parkinson Disease 7, Autosomal Recessive Early-Onset is PARK7 (Parkinsonism Associated Deglycase).

Disease Ontology : 12 A Parkinson's disease that has material basis in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36.

Description from OMIM: 606324

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

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 Juvenile Onset Parkinson Disease 19a
Juvenile-Onset Parkinson Disease Early-Onset Parkinson Disease
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)
id Related Disease Score Top Affiliating Genes
1 parkinson disease, late-onset 11.6
2 early-onset parkinson disease 11.3
3 movement disease 11.0
4 dementia, lewy body 11.0
5 amyotrophic lateral sclerosis-parkinsonism/dementia complex 11.0
6 supranuclear palsy, progressive 11.0
7 parkinson disease 15, autosomal recessive 10.9
8 kufor-rakeb syndrome 10.9
9 parkinson disease 10 10.9
10 parkinson disease susceptibility 10.9
11 park7-related parkinson disease 10.9
12 parkinson disease, juvenile, type 2 10.9
13 snca-related parkinson disease 10.9
14 synucleinopathy 10.8
15 bardet-biedl syndrome 10.8
16 parkinson disease 6, early onset 10.8
17 nervous system disease 10.8
18 parkinson disease 1 10.8
19 parkinson disease 8 10.8
20 neuronitis 9.9
21 adenocarcinoma 9.7
22 malignant pleural mesothelioma 9.7
23 renal cell carcinoma 9.7
24 clear cell renal cell carcinoma 9.7
25 celiac disease 9.7
26 ataxia 9.7

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

Symptoms by clinical synopsis from OMIM:

606324

Clinical features from OMIM:

606324

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

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 bradykinesia 32 HP:0002067
2 anxiety 32 HP:0000739
3 psychotic episodes 32 HP:0000725
4 rigidity 32 HP:0002063
5 postural tremor 32 HP:0002174
6 blepharospasm 32 HP:0000643
7 resting tremor 32 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

Interventional clinical trials:


id Name Status NCT ID Phase
1 Hereditary Parkinson s Disease Natural History Protocol Recruiting NCT02511015

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

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

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

id Genetic test Affiliating Genes
1 Parkinson Disease 7 29

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

Publications for Parkinson Disease 7, Autosomal Recessive Early-Onset

Variations for Parkinson Disease 7, Autosomal Recessive Early-Onset

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

66
id Symbol AA change Variation ID SNP ID
1 PARK7 p.Met26Ile VAR_020492 rs74315351
2 PARK7 p.Glu64Asp VAR_020493 rs74315353
3 PARK7 p.Ala104Thr VAR_020495 rs774005786
4 PARK7 p.Asp149Ala VAR_020496 rs74315352
5 PARK7 p.Leu166Pro VAR_020498 rs28938172

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PARK7 NC_000001.10 deletion Pathogenic GRCh37 Chromosome 1, 8018845: 8044954
2 PARK7 NM_007262.4(PARK7): c.497T> C (p.Leu166Pro) single nucleotide variant Pathogenic rs28938172 GRCh37 Chromosome 1, 8045041: 8045041
3 PARK7 NM_007262.4(PARK7): c.78G> A (p.Met26Ile) single nucleotide variant Pathogenic rs74315351 GRCh37 Chromosome 1, 8022923: 8022923
4 PARK7 NM_007262.4(PARK7): c.446A> C (p.Asp149Ala) single nucleotide variant Pathogenic rs74315352 GRCh37 Chromosome 1, 8044990: 8044990
5 PARK7 NM_007262.4(PARK7): c.192G> C (p.Glu64Asp) single nucleotide variant Pathogenic rs74315353 GRCh37 Chromosome 1, 8025485: 8025485

Expression for Parkinson Disease 7, Autosomal Recessive Early-Onset

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

Pathways for Parkinson Disease 7, Autosomal Recessive Early-Onset

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

Sources for Parkinson Disease 7, Autosomal Recessive Early-Onset

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
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48 NDF-RT
51 NINDS
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54 OMIM
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59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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