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 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:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 606324

Disease Ontology ¹² DOID:0060370

MedGen ⁴² C1853445

MeSH ⁴⁴ D010300 D020734

SNOMED-CT via HPO ⁶⁹ 258211005 59026006 48694002 more

UMLS ⁷³ C1853445

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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

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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
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
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:

Sources

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 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

Sources

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

Synonyms:

165101-51-9

Becaplermin

Becaplermin (USAN/INN)

c-sis

D03065

PDGF B-chain

PDGF-2

PDGFB

PDGF-BB

Platelet-derived growth factor B chain precursor

Platelet-derived growth factor beta polypeptide

Regranex

Regranex (TN)

SH-POLYPEPTIDE-59

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

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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

Sources

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

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

⁴¹

Lung

Sources

Publications for Parkinson Disease 7, Autosomal Recessive Early-Onset

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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	PubmedIds
1	PARK7	Parkinsonism Associated Deglycase	Protein Coding	1300	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Genetic Tests ²⁹	12446870 20639397 20301402 (more) 23279440 22492997 12953260 23792957 15365989 16240358
1	PARK7::GH01J007960	TSS distance: +7.4kb Elite enhancer with elite association with PARK7			Curated enhancer-disease association ²³ ( 27569544 )	18722801

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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

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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

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

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Sources for Parkinson Disease 7, Autosomal Recessive Early-Onset

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⁷¹ TGDB

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⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

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

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):

Interventional clinical trials:

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

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

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

ClinVar 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

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

Sources for Parkinson Disease 7, Autosomal Recessive Early-Onset