PARK7
MCID: PRK021
MIFTS: 28

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

Categories: Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare 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 57 13 73
Parkinson Disease 7 75 29 6
Park7 57 75
Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex Type 2 75
Autosomal Recessive Early-Onset Parkinson Disease Type 7 75
Autosomal Recessive Early-Onset Parkinson's Disease 7 12
Autosomal Recessive Early-Onset Parkinson Disease 7 12
Parkinson Disease, Type 7 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



External Ids:

OMIM 57 606324
Disease Ontology 12 DOID:0060370
MedGen 42 C1853445
UMLS 73 C1853445

Summaries for Parkinson Disease 7, Autosomal Recessive Early-Onset

UniProtKB/Swiss-Prot : 75 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's disease, and has symptoms including bradykinesia, resting tremor and muscle rigidity. An important gene associated with Parkinson Disease 7, Autosomal Recessive Early-Onset is PARK7 (Parkinsonism Associated Deglycase). The drugs Becaplermin and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include lung, and related phenotypes are anxiety and psychotic episodes

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's Disease Early-Onset Parkinson's Disease
Lrrk2-Related Parkinson Disease Vps35-Related 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 12.0
2 early-onset parkinson's disease 11.6
3 dementia 11.3
4 dementia, lewy body 11.2
5 supranuclear palsy, progressive, 1 11.2
6 movement disease 11.2
7 parkinson disease 3, autosomal dominant 11.1
8 parkinson disease 10 11.1
9 perry syndrome 11.1
10 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 11.0
11 parkinson disease 2, autosomal recessive juvenile 11.0
12 parkinson disease 6, autosomal recessive early-onset 11.0
13 synucleinopathy 11.0
14 nervous system disease 11.0
15 multiple sclerosis 10.0
16 renal cell carcinoma, nonpapillary 10.0
17 tuberous sclerosis 1 10.0
18 celiac disease 1 10.0
19 spinocerebellar ataxia 17 10.0
20 lung cancer susceptibility 3 10.0
21 tuberous sclerosis 10.0
22 autosomal dominant cerebellar ataxia 10.0
23 adenocarcinoma 10.0
24 clear cell renal cell carcinoma 10.0
25 malignant pleural mesothelioma 10.0

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:

57
Neurologic Behavioral Psychiatric Manifestations:
psychotic episodes
anxiety disorders
'neurotic' signs and symptoms

Head And Neck Eyes:
blepharospasm may occur

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


Clinical features from OMIM:

606324

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

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 anxiety 32 HP:0000739
2 psychotic episodes 32 HP:0000725
3 rigidity 32 HP:0002063
4 blepharospasm 32 HP:0000643
5 postural tremor 32 HP:0002174
6 bradykinesia 32 HP:0002067
7 resting tremor 32 HP:0002322

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


bradykinesia, resting tremor, muscle rigidity, static tremor

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

Drugs for Parkinson Disease 7, Autosomal Recessive Early-Onset (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Becaplermin Approved, Investigational Phase 1, Phase 2 165101-51-9
2 Pharmaceutical Solutions Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study on Tolerability of Repeat i.c.v. Administration of sNN0031 Infusion Solution in Patients With PD Terminated NCT02408562 Phase 1, Phase 2

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:

# Genetic test Affiliating Genes
1 Parkinson Disease 7 29 PARK7

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

MalaCards organs/tissues related to Parkinson Disease 7, Autosomal Recessive Early-Onset:

41
Lung

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:

75
# 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 (show all 27)
# 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.497T> C (p.Leu166Pro) single nucleotide variant Pathogenic rs28938172 GRCh38 Chromosome 1, 7984981: 7984981
4 PARK7 NM_007262.4(PARK7): c.78G> A (p.Met26Ile) single nucleotide variant Pathogenic rs74315351 GRCh37 Chromosome 1, 8022923: 8022923
5 PARK7 NM_007262.4(PARK7): c.78G> A (p.Met26Ile) single nucleotide variant Pathogenic rs74315351 GRCh38 Chromosome 1, 7962863: 7962863
6 PARK7 NM_007262.4(PARK7): c.446A> C (p.Asp149Ala) single nucleotide variant Pathogenic rs74315352 GRCh37 Chromosome 1, 8044990: 8044990
7 PARK7 NM_007262.4(PARK7): c.446A> C (p.Asp149Ala) single nucleotide variant Pathogenic rs74315352 GRCh38 Chromosome 1, 7984930: 7984930
8 PARK7 NM_007262.4(PARK7): c.192G> C (p.Glu64Asp) single nucleotide variant Pathogenic rs74315353 GRCh37 Chromosome 1, 8025485: 8025485
9 PARK7 NM_007262.4(PARK7): c.192G> C (p.Glu64Asp) single nucleotide variant Pathogenic rs74315353 GRCh38 Chromosome 1, 7965425: 7965425
10 PARK7 NM_007262.4(PARK7): c.487G> A (p.Glu163Lys) single nucleotide variant no interpretation for the single variant rs74315354 GRCh37 Chromosome 1, 8045031: 8045031
11 PARK7 NM_007262.4(PARK7): c.487G> A (p.Glu163Lys) single nucleotide variant no interpretation for the single variant rs74315354 GRCh38 Chromosome 1, 7984971: 7984971
12 PARK7 NM_007262.4(PARK7): c.-24+75_-24+92dup duplication no interpretation for the single variant rs864309640 GRCh37 Chromosome 1, 8021928: 8021945
13 PARK7 NM_007262.4(PARK7): c.-24+75_-24+92dup duplication no interpretation for the single variant rs864309640 GRCh38 Chromosome 1, 7961868: 7961885
14 PARK7 NM_007262.4(PARK7): c.234C> T (p.Gly78=) single nucleotide variant Benign/Likely benign rs11548937 GRCh38 Chromosome 1, 7969386: 7969386
15 PARK7 NM_007262.4(PARK7): c.234C> T (p.Gly78=) single nucleotide variant Benign/Likely benign rs11548937 GRCh37 Chromosome 1, 8029446: 8029446
16 PARK7 NM_007262.4(PARK7): c.293G> A (p.Arg98Gln) single nucleotide variant Benign rs71653619 GRCh38 Chromosome 1, 7970934: 7970934
17 PARK7 NM_007262.4(PARK7): c.293G> A (p.Arg98Gln) single nucleotide variant Benign rs71653619 GRCh37 Chromosome 1, 8030994: 8030994
18 PARK7 NM_007262.4(PARK7): c.91-4G> A single nucleotide variant Likely benign rs756040385 GRCh38 Chromosome 1, 7965320: 7965320
19 PARK7 NM_007262.4(PARK7): c.91-4G> A single nucleotide variant Likely benign rs756040385 GRCh37 Chromosome 1, 8025380: 8025380
20 PARK7 NC_000001.11: g.(?_7969325)_(7969424_?)del deletion Likely pathogenic GRCh37 Chromosome 1, 8029385: 8029484
21 PARK7 NC_000001.11: g.(?_7969325)_(7969424_?)del deletion Likely pathogenic GRCh38 Chromosome 1, 7969325: 7969424
22 PARK7 NM_007262.4(PARK7): c.105dup (p.Ala36Cysfs) duplication Pathogenic GRCh38 Chromosome 1, 7965338: 7965338
23 PARK7 NM_007262.4(PARK7): c.105dup (p.Ala36Cysfs) duplication Pathogenic GRCh37 Chromosome 1, 8025398: 8025398
24 PARK7 NM_007262.4(PARK7): c.448G> A (p.Gly150Ser) single nucleotide variant Uncertain significance rs368420490 GRCh37 Chromosome 1, 8044992: 8044992
25 PARK7 NM_007262.4(PARK7): c.448G> A (p.Gly150Ser) single nucleotide variant Uncertain significance rs368420490 GRCh38 Chromosome 1, 7984932: 7984932
26 PARK7 NM_007262.4(PARK7): c.511G> T (p.Ala171Ser) single nucleotide variant Uncertain significance rs777026628 GRCh37 Chromosome 1, 8045055: 8045055
27 PARK7 NM_007262.4(PARK7): c.511G> T (p.Ala171Ser) single nucleotide variant Uncertain significance rs777026628 GRCh38 Chromosome 1, 7984995: 7984995

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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71 TGDB
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74 UMLS via Orphanet
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