PARK7
MCID: PRK021
MIFTS: 39

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

Categories: Eye diseases, 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 70
Parkinson Disease 7 72 29 6
Parkinson's Disease 7 12 15
Park7 57 72
Amyotrophic Lateral Sclerosis-Parkinsonism/dementia Complex Type 2 72
Autosomal Recessive Early-Onset Parkinson Disease Type 7 72
Autosomal Recessive Early-Onset Parkinson's Disease 7 12
Autosomal Recessive Early-Onset Parkinson Disease 7 12
Parkinson Disease, Type 7 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
slow progression
onset before age 40 years
good response to l-dopa initially

Inheritance:
autosomal recessive


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0060370
OMIM® 57 606324
OMIM Phenotypic Series 57 PS168600
MedGen 41 C1853445
UMLS 70 C1853445

Summaries for Parkinson Disease 7, Autosomal Recessive Early-Onset

UniProtKB/Swiss-Prot : 72 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 dystonia 12 and parkinson disease, late-onset, 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), and among its related pathways/superpathways is Proteolysis Putative SUMO-1 pathway. Affiliated tissues include eye, brain and spinal cord, and related phenotypes are dyskinesia and anxiety

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

More information from OMIM: 606324 PS168600

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
Vps35-Related Parkinson Disease 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 top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 dystonia 12 31.2 PARK7 ATXN1
2 parkinson disease, late-onset 11.4
3 parkinsonism 11.2
4 dementia 11.1
5 lateral sclerosis 11.1
6 parkinson disease 2, autosomal recessive juvenile 11.1
7 male infertility 11.1
8 creutzfeldt-jakob disease 11.0
9 early-onset parkinson's disease 11.0
10 supranuclear palsy, progressive, 1 11.0
11 dystonia 11.0
12 alzheimer disease 11.0
13 amyotrophic lateral sclerosis 1 11.0
14 arthrogryposis, distal, type 1a 11.0
15 dementia, lewy body 11.0
16 hemochromatosis, type 1 11.0
17 parkinson disease 3, autosomal dominant 11.0
18 movement disease 11.0
19 prion disease 11.0
20 perry syndrome 10.9
21 kufor-rakeb syndrome 10.8
22 autosomal dominant cerebellar ataxia 10.8
23 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 10.8
24 renal cysts and diabetes syndrome 10.8
25 optic atrophy 1 10.8
26 pick disease of brain 10.8
27 gaucher disease, type i 10.8
28 mitochondrial complex i deficiency, nuclear type 1 10.8
29 parkinson disease 15, autosomal recessive early-onset 10.8
30 parkinson disease 10 10.8
31 alzheimer disease 8 10.8
32 spinal muscular atrophy, distal, autosomal recessive, 4 10.8
33 parkinson disease 17 10.8
34 color agnosia 10.8
35 neurodegeneration with brain iron accumulation 10.8
36 postencephalitic parkinson disease 10.8
37 disease of mental health 10.8
38 gaucher's disease 10.8
39 bardet-biedl syndrome 10.8
40 mixed type thymoma 10.8
41 toxic encephalopathy 10.8
42 glottis squamous cell carcinoma 10.8
43 stroke, ischemic 10.1
44 neuroblastoma 10.1
45 renal cell carcinoma, nonpapillary 9.9
46 celiac disease 1 9.9
47 glioblastoma 9.9
48 cataract 9.9
49 multiple sclerosis 9.8
50 huntington disease 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

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

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 dyskinesia 31 very rare (1%) HP:0100660
2 anxiety 31 very rare (1%) HP:0000739
3 blepharospasm 31 very rare (1%) HP:0000643
4 rigidity 31 very rare (1%) HP:0002063
5 brisk reflexes 31 very rare (1%) HP:0001348
6 psychotic episodes 31 very rare (1%) HP:0000725
7 bradykinesia 31 very rare (1%) HP:0002067
8 postural tremor 31 very rare (1%) HP:0002174
9 resting tremor 31 very rare (1%) HP:0002322
10 parkinsonism with favorable response to dopaminergic medication 31 very rare (1%) HP:0002548
11 leg dystonia 31 very rare (1%) HP:0031959

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Behavioral Psychiatric Manifestations:
psychotic episodes
anxiety disorders
'neurotic' signs and symptoms

Head And Neck Eyes:
blepharospasm may occur

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

Clinical features from OMIM®:

606324 (Updated 20-May-2021)

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

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 29 PARK7

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

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

40
Eye, Brain, Spinal Cord, Lung, Prostate

Publications for Parkinson Disease 7, Autosomal Recessive Early-Onset

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

(show all 22)
# Title Authors PMID Year
1
DJ-1 mutations and parkinsonism-dementia-amyotrophic lateral sclerosis complex. 57 6
16240358 2005
2
The role of pathogenic DJ-1 mutations in Parkinson's disease. 57 6
12953260 2003
3
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. 6 57
12446870 2003
4
Dopamine oxidation mediates mitochondrial and lysosomal dysfunction in Parkinson's disease. 57
28882997 2017
5
Parkinson disease protein DJ-1 binds metals and protects against metal-induced cytotoxicity. 6
23792957 2013
6
DJ-1 induces thioredoxin 1 expression through the Nrf2 pathway. 6
22492997 2012
7
Loss of the Parkinson's disease-linked gene DJ-1 perturbs mitochondrial dynamics. 6
20639397 2010
8
Frequency of known mutations in early-onset Parkinson disease: implication for genetic counseling: the consortium on risk for early onset Parkinson disease study. 57
20837857 2010
9
DJ-1 deficient mice demonstrate similar vulnerability to pathogenic Ala53Thr human alpha-syn toxicity. 57
20089532 2010
10
Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7). 6
15365989 2004
11
Screening for DJ-1 mutations in early onset autosomal recessive parkinsonism. 57
14638971 2003
12
Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset. 57
11835383 2002
13
Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36. 57
11462174 2001
14
Upregulation of DJ-1 expression in melanoma regulates PTEN/AKT pathway for cell survival and migration. 61
32959108 2020
15
Elevation of Serum PARK7 and IL-8 Levels Is Associated With Acute Lung Injury in Patients With Severe Sepsis/Septic Shock. 61
28506137 2019
16
Improved detection of prostate cancer using a magneto-nanosensor assay for serum circulating autoantibodies. 61
31404106 2019
17
Glutathione peroxidase contributes with heme oxygenase-1 to redox balance in mouse brain during the course of cerebral malaria. 61
23872112 2013
18
The P's and Q's of cellular PrP-Aβ interactions. 61
22874673 2012
19
Multiple coregulatory control of tyrosine hydroxylase gene transcription. 61
21368136 2011
20
Comprehensive proteome analysis of an Apc mouse model uncovers proteins associated with intestinal tumorigenesis. 61
19240248 2009
21
Proteomic profiling of the insoluble pellets of the transected rat spinal cord. 61
19119913 2009
22
[Proceedings of the 8th Meeting of Therapeutics and Neurology: Parkinson Disease. 7-8 December 2001, Paris, France]. 61
12773882 2003

Variations for Parkinson Disease 7, Autosomal Recessive Early-Onset

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

6 (show all 42)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PARK7 NM_007262.5(PARK7):c.497T>C (p.Leu166Pro) SNV Pathogenic 7064 rs28938172 GRCh37: 1:8045041-8045041
GRCh38: 1:7984981-7984981
2 PARK7 NM_007262.5(PARK7):c.78G>A (p.Met26Ile) SNV Pathogenic 7065 rs74315351 GRCh37: 1:8022923-8022923
GRCh38: 1:7962863-7962863
3 PARK7 NM_007262.5(PARK7):c.446A>C (p.Asp149Ala) SNV Pathogenic 7066 rs74315352 GRCh37: 1:8044990-8044990
GRCh38: 1:7984930-7984930
4 PARK7 NM_007262.5(PARK7):c.192G>C (p.Glu64Asp) SNV Pathogenic 7067 rs74315353 GRCh37: 1:8025485-8025485
GRCh38: 1:7965425-7965425
5 PARK7 NM_007262.5(PARK7):c.487G>A (p.Glu163Lys) SNV Pathogenic 446717 rs74315354 GRCh37: 1:8045031-8045031
GRCh38: 1:7984971-7984971
6 PARK7 NM_007262.5(PARK7):c.105dup (p.Ala36fs) Duplication Pathogenic 573287 rs781600849 GRCh37: 1:8025396-8025397
GRCh38: 1:7965336-7965337
7 PARK7 nsv513788 Deletion Pathogenic 7063 GRCh37: 1:8018845-8044954
GRCh38:
8 PARK7 NC_000001.11:g.(?_7969325)_(7969424_?)del Deletion Likely pathogenic 584372 GRCh37: 1:8029385-8029484
GRCh38: 1:7969325-7969424
9 PARK7 NM_007262.5(PARK7):c.189_190AG[1] (p.Glu64fs) Microsatellite Likely pathogenic 447914 rs1553122929 GRCh37: 1:8025482-8025483
GRCh38: 1:7965422-7965423
10 PARK7 NM_007262.5(PARK7):c.90+1dup Duplication Likely pathogenic 804432 rs1578089802 GRCh37: 1:8022932-8022933
GRCh38: 1:7962872-7962873
11 PARK7 NM_007262.5(PARK7):c.501A>G (p.Ala167=) SNV Conflicting interpretations of pathogenicity 707607 rs71653621 GRCh37: 1:8045045-8045045
GRCh38: 1:7984985-7984985
12 PARK7 NM_007262.5(PARK7):c.-30G>C SNV Uncertain significance 298116 rs886046544 GRCh37: 1:8021847-8021847
GRCh38: 1:7961787-7961787
13 PARK7 NM_007262.5(PARK7):c.*185T>A SNV Uncertain significance 875477 GRCh37: 1:8045299-8045299
GRCh38: 1:7985239-7985239
14 PARK7 NM_007262.5(PARK7):c.56C>T (p.Thr19Met) SNV Uncertain significance 963192 GRCh37: 1:8022901-8022901
GRCh38: 1:7962841-7962841
15 PARK7 NM_007262.5(PARK7):c.535G>A (p.Ala179Thr) SNV Uncertain significance 854701 GRCh37: 1:8045079-8045079
GRCh38: 1:7985019-7985019
16 PARK7 NM_007262.5(PARK7):c.91-11C>T SNV Uncertain significance 874550 GRCh37: 1:8025373-8025373
GRCh38: 1:7965313-7965313
17 PARK7 NM_007262.5(PARK7):c.91A>G (p.Ile31Val) SNV Uncertain significance 874551 GRCh37: 1:8025384-8025384
GRCh38: 1:7965324-7965324
18 PARK7 NM_007262.5(PARK7):c.425C>T (p.Ser142Phe) SNV Uncertain significance 874552 GRCh37: 1:8044969-8044969
GRCh38: 1:7984909-7984909
19 PARK7 NM_007262.5(PARK7):c.502A>G (p.Ile168Val) SNV Uncertain significance 875474 GRCh37: 1:8045046-8045046
GRCh38: 1:7984986-7984986
20 PARK7 NM_007262.5(PARK7):c.*49A>G SNV Uncertain significance 875475 GRCh37: 1:8045163-8045163
GRCh38: 1:7985103-7985103
21 PARK7 NM_007262.5(PARK7):c.448G>A (p.Gly150Ser) SNV Uncertain significance 577231 rs368420490 GRCh37: 1:8044992-8044992
GRCh38: 1:7984932-7984932
22 PARK7 NM_007262.5(PARK7):c.511G>T (p.Ala171Ser) SNV Uncertain significance 582678 rs777026628 GRCh37: 1:8045055-8045055
GRCh38: 1:7984995-7984995
23 PARK7 NM_007262.5(PARK7):c.310G>A (p.Ala104Thr) SNV Uncertain significance 642328 rs774005786 GRCh37: 1:8031011-8031011
GRCh38: 1:7970951-7970951
24 PARK7 NM_007262.5(PARK7):c.28C>G (p.Leu10Val) SNV Uncertain significance 643343 rs1309873819 GRCh37: 1:8022873-8022873
GRCh38: 1:7962813-7962813
25 PARK7 NC_000001.10:g.(?_8022836)_(8031035_?)dup Duplication Uncertain significance 650723 GRCh37: 1:8022836-8031035
GRCh38: 1:7962776-7970975
26 PARK7 NM_007262.5(PARK7):c.*125G>A SNV Uncertain significance 298124 rs779587926 GRCh37: 1:8045239-8045239
GRCh38: 1:7985179-7985179
27 PARK7 NM_007262.5(PARK7):c.59T>C (p.Val20Ala) SNV Uncertain significance 298118 rs370430693 GRCh37: 1:8022904-8022904
GRCh38: 1:7962844-7962844
28 PARK7 NM_007262.5(PARK7):c.73G>A (p.Val25Ile) SNV Uncertain significance 298119 rs781346135 GRCh37: 1:8022918-8022918
GRCh38: 1:7962858-7962858
29 PARK7 NM_007262.5(PARK7):c.-80T>A SNV Uncertain significance 298114 rs140230911 GRCh37: 1:8021797-8021797
GRCh38: 1:7961737-7961737
30 PARK7 NM_007262.5(PARK7):c.223G>A (p.Gly75Ser) SNV Uncertain significance 298120 rs886046545 GRCh37: 1:8029435-8029435
GRCh38: 1:7969375-7969375
31 PARK7 NM_007262.5(PARK7):c.500C>G (p.Ala167Gly) SNV Uncertain significance 298123 rs886046546 GRCh37: 1:8045044-8045044
GRCh38: 1:7984984-7984984
32 PARK7 NM_007262.5(PARK7):c.101C>T (p.Thr34Ile) SNV Uncertain significance 806045 rs772272696 GRCh37: 1:8025394-8025394
GRCh38: 1:7965334-7965334
33 PARK7 NM_007262.5(PARK7):c.16G>T (p.Ala6Ser) SNV Uncertain significance 1015099 GRCh37: 1:8022861-8022861
GRCh38: 1:7962801-7962801
34 PARK7 NM_007262.5(PARK7):c.252+8dup Duplication Likely benign 675657 rs781094807 GRCh37: 1:8029466-8029467
GRCh38: 1:7969406-7969407
35 PARK7 NM_007262.5(PARK7):c.*124C>T SNV Likely benign 875476 GRCh37: 1:8045238-8045238
GRCh38: 1:7985178-7985178
36 PARK7 NM_007262.5(PARK7):c.91-4G>A SNV Likely benign 534230 rs756040385 GRCh37: 1:8025380-8025380
GRCh38: 1:7965320-7965320
37 PARK7 NM_007262.5(PARK7):c.293G>A (p.Arg98Gln) SNV Benign/Likely benign 465831 rs71653619 GRCh37: 1:8030994-8030994
GRCh38: 1:7970934-7970934
38 PARK7 NM_007262.5(PARK7):c.234C>T (p.Gly78=) SNV Benign 298121 rs11548937 GRCh37: 1:8029446-8029446
GRCh38: 1:7969386-7969386
39 PARK7 NM_007262.5(PARK7):c.-22C>T SNV Benign 298117 rs11548933 GRCh37: 1:8022824-8022824
GRCh38: 1:7962764-7962764
40 PARK7 NM_007262.5(PARK7):c.-70C>T SNV Benign 298115 rs11121064 GRCh37: 1:8021807-8021807
GRCh38: 1:7961747-7961747
41 PARK7 NM_007262.5(PARK7):c.323-14A>G SNV Benign 298122 rs72854882 GRCh37: 1:8037698-8037698
GRCh38: 1:7977638-7977638
42 PARK7 NM_007262.5(PARK7):c.-99T>C SNV Benign 298113 rs226249 GRCh37: 1:8021778-8021778
GRCh38: 1:7961718-7961718

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

72
# 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

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

Pathways related to Parkinson Disease 7, Autosomal Recessive Early-Onset according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.36 UBA2 RANGAP1

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

Cellular components related to Parkinson Disease 7, Autosomal Recessive Early-Onset according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.1 ZBTB1 UQCC3 UBA2 RANGAP1 PARK7 ATXN1

Biological processes related to Parkinson Disease 7, Autosomal Recessive Early-Onset according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein sumoylation GO:0016925 8.96 UBA2 RANGAP1
2 negative regulation of protein export from nucleus GO:0046826 8.62 RANGAP1 PARK7

Molecular functions related to Parkinson Disease 7, Autosomal Recessive Early-Onset according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 9.16 SNAI3 PARK7
2 ubiquitin-like protein conjugating enzyme binding GO:0044390 8.96 UBA2 PARK7
3 small protein activating enzyme binding GO:0044388 8.62 UBA2 PARK7

Sources for Parkinson Disease 7, Autosomal Recessive Early-Onset

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....