MCID: PRK021
MIFTS: 30

Parkinson Disease 7, Autosomal Recessive Early-Onset

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

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

MalaCards integrated aliases for Parkinson Disease 7, Autosomal Recessive Early-Onset:

Name: Parkinson Disease 7, Autosomal Recessive Early-Onset 53 13 69
Parkinson Disease 7 71 28
Park7 53 71
Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex Type 2 71
Autosomal Recessive Early-Onset Parkinson Disease Type 7 71
Autosomal Recessive Early-Onset Parkinson Disease 7 12

Characteristics:

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
slow progression
onset before age 40 years
good response to l-dopa initially


HPO:

31
parkinson disease 7, autosomal recessive early-onset:
Onset and clinical course adult onset slow progression
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 606324
Disease Ontology 12 DOID:0060370
MedGen 39 C1853445
UMLS 69 C1853445

Summaries for Parkinson Disease 7, Autosomal Recessive Early-Onset

UniProtKB/Swiss-Prot : 71 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 1, Autosomal Dominant Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinson Disease 12 Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinson Disease 3, Autosomal Dominant Parkinson Disease 4, Autosomal Dominant
Parkinson Disease 6, Autosomal Recessive Early-Onset Parkinson Disease 7, Autosomal Recessive Early-Onset
Parkinson Disease 10 Parkinson Disease 8, Autosomal Dominant
Parkinson Disease 11, Autosomal Dominant Parkinson Disease 13, Autosomal Dominant
Parkinson Disease 14, Autosomal Recessive Parkinson Disease 16
Parkinson Disease 5, Autosomal Dominant Parkinson Disease 17
Parkinson Disease 18, Autosomal Dominant Parkinson Disease 19a, Juvenile-Onset
Parkinson Disease 20, Early-Onset Parkinson Disease 21
Parkinson Disease 22, Autosomal Dominant Parkinson Disease 23, Autosomal Recessive Early-Onset
Juvenile-Onset Parkinson Disease Early-Onset Parkinson Disease
Parkinson Disease Type 9 Hereditary Late-Onset Parkinson Disease

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

(show all 25)
# Related Disease Score Top Affiliating Genes
1 parkinson disease, late-onset 11.8
2 early-onset parkinson disease 11.4
3 parkinson disease 2, autosomal recessive juvenile 11.2
4 parkinson disease 6, autosomal recessive early-onset 11.1
5 dementia 11.1
6 dementia, lewy body 11.0
7 supranuclear palsy, progressive, 1 11.0
8 movement disease 11.0
9 parkinson disease 15, autosomal recessive early-onset 10.9
10 parkinson disease 3, autosomal dominant 10.9
11 parkinson disease 10 10.9
12 perry syndrome 10.9
13 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 10.8
14 synucleinopathy 10.8
15 bardet-biedl syndrome 10.8
16 nervous system disease 10.8
17 neuronitis 10.0
18 renal cell carcinoma, nonpapillary 9.8
19 celiac disease 1 9.8
20 ataxia and polyneuropathy, adult-onset 9.8
21 spermatogenic failure 3 9.8
22 autosomal dominant cerebellar ataxia 9.8
23 adenocarcinoma 9.8
24 malignant pleural mesothelioma 9.8
25 clear cell renal cell carcinoma 9.8

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

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
bradykinesia
postural tremor
resting tremor
muscular rigidity

Head And Neck Eyes:
blepharospasm may occur

Neurologic Behavioral Psychiatric Manifestations:
psychotic episodes
anxiety disorders
'neurotic' signs and symptoms


Clinical features from OMIM:

606324

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

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 bradykinesia 31 HP:0002067
2 anxiety 31 HP:0000739
3 psychotic episodes 31 HP:0000725
4 rigidity 31 HP:0002063
5 postural tremor 31 HP:0002174
6 blepharospasm 31 HP:0000643
7 resting tremor 31 HP:0002322

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


resting tremor, static tremor, bradykinesia, muscle rigidity

Drugs & Therapeutics for Parkinson Disease 7, Autosomal Recessive Early-Onset

Search Clinical Trials , 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:

# Genetic test Affiliating Genes
1 Parkinson Disease 7 28 PARK7

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

Publications for Parkinson Disease 7, Autosomal Recessive Early-Onset

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

(show all 22)
# Title Authors Year
1
Essential control of mitochondrial morphology and function by chaperone-mediated autophagy through degradation of PARK7. ( 27171370 )
2016
2
The antioxidant protein PARK7 plays an important role in cell resistance to Cisplatin-induced apoptosis in case of clear cell renal cell carcinoma. ( 27112662 )
2016
3
Computational genomic analysis of PARK7 interactome reveals high BBS1 gene expression as a prognostic factor favoring survival in malignant pleural mesothelioma. ( 26254420 )
2015
4
PARK7 protein translocating into spermatozoa mitochondria in Chinese asthenozoospermia. ( 24920663 )
2014
5
Expression of PARK7 is increased in celiac disease. ( 23832581 )
2013
6
Incidence of mutations in the PARK2, PINK1, PARK7 genes in Polish early-onset Parkinson disease patients. ( 23986421 )
2013
7
Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease. ( 22956510 )
2012
8
Comparative secretome analyses using a hollow fiber culture system with label-free quantitative proteomics indicates the influence of PARK7 on cell proliferation and migration/invasion in lung adenocarcinoma. ( 22985211 )
2012
9
Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update. ( 20506312 )
2010
10
Altered expression of HSPA5, HSPA8 and PARK7 in spinocerebellar ataxia type 17 identified by 2-dimensional fluorescence difference in gel electrophoresis. ( 19014922 )
2009
11
Porcine DJ-1: cloning of PARK7 cDNA, sequence comparison, expression analysis and chromosomal localization. ( 17268184 )
2007
12
DJ-1 (PARK7) is associated with 3R and 4R tau neuronal and glial inclusions in neurodegenerative disorders. ( 17719794 )
2007
13
PARK7 DJ-1 protects against degeneration of nigral dopaminergic neurons in Parkinson's disease rat model. ( 16860563 )
2006
14
Development, characterisation and epitope mapping of novel monoclonal antibodies for DJ-1 (PARK7) protein. ( 15955416 )
2005
15
The expression of DJ-1 (PARK7) in normal human CNS and idiopathic Parkinson's disease. ( 14662519 )
2004
16
Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7). ( 15365989 )
2004
17
Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early-onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients. ( 15108293 )
2004
18
DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease. ( 14872018 )
2004
19
DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism. ( 14598065 )
2003
20
Assessment of a DJ-1 (PARK7) polymorphism in Finnish PD. ( 14557580 )
2003
21
Autosomal recessive early onset parkinsonism is linked to three loci: PARK2, PARK6, and PARK7. ( 12548343 )
2002
22
Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36. ( 11462174 )
2001

Variations for Parkinson Disease 7, Autosomal Recessive Early-Onset

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

71
# 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
# 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

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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
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70 UMLS via Orphanet
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