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

Sources

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

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

Sources

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 muscle rigidity, bradykinesia and static tremor. An important gene associated with Parkinson Disease 7, Autosomal Recessive Early-Onset is PARK7 (Parkinsonism Associated Deglycase). The drugs Pharmaceutical Solutions and Platelet-derived growth factor BB have been mentioned in the context of this disorder. 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

Sources

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 23)

#	Related Disease	Score
1	parkinson disease, late-onset	11.8
2	early-onset parkinson's disease	11.5
3	dementia	11.1
4	dementia, lewy body	11.0
5	supranuclear palsy, progressive, 1	11.0
6	movement disease	11.0
7	parkinson disease 3, autosomal dominant	10.9
8	parkinson disease 10	10.9
9	perry syndrome	10.9
10	amyotrophic lateral sclerosis-parkinsonism/dementia complex 1	10.8
11	parkinson disease 2, autosomal recessive juvenile	10.8
12	parkinson disease 6, autosomal recessive early-onset	10.8
13	synucleinopathy	10.8
14	central nervous system disease	10.8
15	nervous system disease	10.8
16	neuronitis	10.0
17	renal cell carcinoma, nonpapillary	9.8
18	celiac disease 1	9.8
19	lung cancer susceptibility 3	9.8
20	autosomal dominant cerebellar ataxia	9.8
21	adenocarcinoma	9.8
22	clear cell renal cell carcinoma	9.8
23	malignant pleural mesothelioma	9.8

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:

muscle rigidity, bradykinesia, static tremor, resting 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	Pharmaceutical Solutions		Phase 1, Phase 2
2	Platelet-derived growth factor BB		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

Sources

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

Sources

Publications for Parkinson Disease 7, Autosomal Recessive Early-Onset

Sources

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 22492997 (more) 20301402 23279440 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

Sources

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 15)

#	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.234C> T (p.Gly78=)	single nucleotide variant	Benign/Likely benign	rs11548937	GRCh38	Chromosome 1, 7969386: 7969386
11	PARK7	NM_007262.4(PARK7): c.234C> T (p.Gly78=)	single nucleotide variant	Benign/Likely benign	rs11548937	GRCh37	Chromosome 1, 8029446: 8029446
12	PARK7	NM_007262.4(PARK7): c.293G> A (p.Arg98Gln)	single nucleotide variant	Benign	rs71653619	GRCh37	Chromosome 1, 8030994: 8030994
13	PARK7	NM_007262.4(PARK7): c.293G> A (p.Arg98Gln)	single nucleotide variant	Benign	rs71653619	GRCh38	Chromosome 1, 7970934: 7970934
14	PARK7	NM_007262.4(PARK7): c.91-4G> A	single nucleotide variant	Likely benign	rs756040385	GRCh37	Chromosome 1, 8025380: 8025380
15	PARK7	NM_007262.4(PARK7): c.91-4G> A	single nucleotide variant	Likely benign	rs756040385	GRCh38	Chromosome 1, 7965320: 7965320

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.

Sources

Pathways for Parkinson Disease 7, Autosomal Recessive Early-Onset

Sources

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

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 ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

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 NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia