Parkinson Disease 7, Autosomal Recessive Early-Onset disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Mental diseases Eye diseases Muscle diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0060370

OMIM® ⁵⁷ 606324

OMIM Phenotypic Series ⁵⁷ PS168600

MeSH ⁴⁴ D010300 D020734

MedGen ⁴¹ C1853445

SNOMED-CT via HPO ⁶⁸ 16046003 25082004 258211005 more

UMLS ⁷⁰ C1853445

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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

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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:

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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

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

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

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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

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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

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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	Annesi G...Quattrone A	16240358	2005
2	The role of pathogenic DJ-1 mutations in Parkinson's disease. ⁵⁷ ⁶	Abou-Sleiman PM...Wood NW	12953260	2003
3	Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. ⁶ ⁵⁷	Bonifati V...Heutink P	12446870	2003
4	Dopamine oxidation mediates mitochondrial and lysosomal dysfunction in Parkinson's disease. ⁵⁷	Burbulla LF...Krainc D	28882997	2017
5	Parkinson disease protein DJ-1 binds metals and protects against metal-induced cytotoxicity. ⁶	Bjorkblom B...Moller SG	23792957	2013
6	DJ-1 induces thioredoxin 1 expression through the Nrf2 pathway. ⁶	Im JY...Mouradian MM	22492997	2012
7	Loss of the Parkinson's disease-linked gene DJ-1 perturbs mitochondrial dynamics. ⁶	Irrcher I...Park DS	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	Alcalay RN...Clark LN	20837857	2010
9	DJ-1 deficient mice demonstrate similar vulnerability to pathogenic Ala53Thr human alpha-syn toxicity. ⁵⁷	Ramsey CP...Giasson BI	20089532	2010
10	Novel homozygous p.E64D mutation in DJ1 in early onset Parkinson disease (PARK7). ⁶	Hering R...Riess O	15365989	2004
11	Screening for DJ-1 mutations in early onset autosomal recessive parkinsonism. ⁵⁷	Ibanez P...French Parkinson's Disease Genetics Study Group	14638971	2003
12	Localization of autosomal recessive early-onset parkinsonism to chromosome 1p36 (PARK7) in an independent dataset. ⁵⁷	Bonifati V...Heutink P	11835383	2002
13	Park7, a novel locus for autosomal recessive early-onset parkinsonism, on chromosome 1p36. ⁵⁷	van Duijn CM...Heutink P	11462174	2001
14	Upregulation of DJ-1 expression in melanoma regulates PTEN/AKT pathway for cell survival and migration. ⁶¹	Lee YJ...Cho MK	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	Liu XW...Liu Z	28506137	2019
16	Improved detection of prostate cancer using a magneto-nanosensor assay for serum circulating autoantibodies. ⁶¹	Xu L...Gambhir SS	31404106	2019
17	Glutathione peroxidase contributes with heme oxygenase-1 to redox balance in mouse brain during the course of cerebral malaria. ⁶¹	Linares M...Bautista JM	23872112	2013
18	The P's and Q's of cellular PrP-Aβ interactions. ⁶¹	Westaway D...Jhamandas JH	22874673	2012
19	Multiple coregulatory control of tyrosine hydroxylase gene transcription. ⁶¹	Reddy SD...Kumar R	21368136	2011
20	Comprehensive proteome analysis of an Apc mouse model uncovers proteins associated with intestinal tumorigenesis. ⁶¹	Hung KE...Kucherlapati R	19240248	2009
21	Proteomic profiling of the insoluble pellets of the transected rat spinal cord. ⁶¹	Yan X...Liu S	19119913	2009
22	[Proceedings of the 8th Meeting of Therapeutics and Neurology: Parkinson Disease. 7-8 December 2001, Paris, France]. ⁶¹		12773882	2003

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Genes for Parkinson Disease 7, Autosomal Recessive Early-Onset

Genes/enhancers related to Parkinson Disease 7, Autosomal Recessive Early-Onset (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	PARK7	Parkinsonism Associated Deglycase	Protein Coding	1331.91	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵	12446870 20639397 22492997
1	PARK7::GH01J007960	TSS distance: +7.4kb Elite enhancer with elite association with PARK7			Curated enhancer-disease association ²⁴ ( 27569544 )	18722801
2	SNAI3	Snail Family Transcriptional Repressor 3	Protein Coding	5.81	DISEASES inferred ¹⁵
3	ATXN1	Ataxin 1	Protein Coding	5.74	DISEASES inferred ¹⁵
4	RANGAP1	Ran GTPase Activating Protein 1	Protein Coding	5.47	DISEASES inferred ¹⁵
5	DESI1	Desumoylating Isopeptidase 1	Protein Coding	5.39	DISEASES inferred ¹⁵
6	UQCC3	Ubiquinol-Cytochrome C Reductase Complex Assembly Factor 3	Protein Coding	5.39	DISEASES inferred ¹⁵
7	ITGB5	Integrin Subunit Beta 5	Protein Coding	5.29	DISEASES inferred ¹⁵
8	ZBTB1	Zinc Finger And BTB Domain Containing 1	Protein Coding	5.26	DISEASES inferred ¹⁵
9	UBA2	Ubiquitin Like Modifier Activating Enzyme 2	Protein Coding	5.24	DISEASES inferred ¹⁵

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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

Sources

Expression for Parkinson Disease 7, Autosomal Recessive Early-Onset

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

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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	Proteolysis Putative SUMO-1 pathway ²³ Show member pathways DNA damage Role of SUMO in p53 regulation ²³	10.36	UBA2 RANGAP1

Sources

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

Sources for Parkinson Disease 7, Autosomal Recessive Early-Onset

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

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

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

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

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Parkinson Disease 7, Autosomal Recessive Early-Onset

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

Diseases in the Parkinson Disease, Late-Onset family:

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

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

Drugs & Therapeutics 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:

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

MalaCards organs/tissues related to 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:

Genes for Parkinson Disease 7, Autosomal Recessive Early-Onset

Genes/enhancers related to Parkinson Disease 7, Autosomal Recessive Early-Onset (1 elite genes):

Variations for Parkinson Disease 7, Autosomal Recessive Early-Onset

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

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

Expression 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:

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:

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

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

Sources for Parkinson Disease 7, Autosomal Recessive Early-Onset