Parkinson Disease 6, Early Onset: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

Summaries for Parkinson Disease 6, Early Onset

Sources:
⁴⁶OMIM, ³²MalaCards
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MalaCards based summary: Parkinson Disease 6, Early Onset and has symptoms including autosomal recessive inheritance, urinary urgency and depression. An important gene associated with Parkinson Disease 6, Early Onset is PINK1 (PTEN induced putative kinase 1).

Description from OMIM:⁴⁶ 605909

Aliases & Classifications for Parkinson Disease 6, Early Onset

Sources:
⁴⁶OMIM
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Parkinson Disease 6, Early Onset, Aliases & Descriptions:

Name: Parkinson Disease 6, Early Onset ⁴⁶

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Eye diseases, Mental diseases

Related Diseases for Parkinson Disease 6, Early Onset

Diseases in the Parkinson's Disease family:

Lrrk2-Related Parkinson Disease	Autosomal Recessive Juvenile Parkinson Disease
Parkinson Disease Type 3	Parkinson Disease Type 9
Park7-Related Parkinson Disease	Snca-Related Parkinson Disease
Htra2-Related Parkinson Disease	Vps35-Related Parkinson Disease
Fbxo7-Related Parkinson Disease	Parkinson Disease 7, Autosomal Recessive Early-Onset
parkinson disease 6, early onset	Parkinson Disease 19, Juvenile-Onset
Parkinson Disease 10	Parkinson Disease, Late-Onset
Parkinson Disease 16	Parkinson Disease 13
Parkinson Disease 11	Parkinson Disease 18
Parkinson Disease 5	Parkinson Disease 4
Parkinson Disease 1	Parkinson Disease, Juvenile, Type 2
Parkinson Disease 8	Parkinson Disease 17
Parkinson Disease 20, Early-Onset	Parkinson Disease 15, Autosomal Recessive
Parkinson Disease 14	Parkinson Disease 12
Hereditary Parkinson Disease with Late-Onset

Symptoms for Parkinson Disease 6, Early Onset

Sources:
⁴⁶OMIM, ⁵⁸The Human Phenotype Ontology
See all sources

Symptoms by clinical synopsis from OMIM:

605909

Clinical features from OMIM:

605909

HPO human phenotypes related to Parkinson Disease 6, Early Onset:

(show all 14)

id	Description	HPO Source Accession
1	autosomal recessive inheritance	HP:0000007
2	urinary urgency	HP:0000012
3	depression	HP:0000716
4	dementia	HP:0000726
5	anxiety	HP:0000739
6	parkinsonism	HP:0001300
7	dystonia	HP:0001332
8	hyperreflexia	HP:0001347
9	rigidity	HP:0002063
10	bradykinesia	HP:0002067
11	postural instability	HP:0002172
12	resting tremor	HP:0002322
13	infantile onset	HP:0003593
14	slow progression	HP:0003677

Drugs & Therapeutics for Parkinson Disease 6, Early Onset

Sources:
⁴¹NIH Clinical Center, ⁶ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Parkinson Disease 6, Early Onset

Search NIH Clinical Center for Parkinson Disease 6, Early Onset

Genetic Tests for Parkinson Disease 6, Early Onset

Anatomical Context for Parkinson Disease 6, Early Onset

Animal Models for Parkinson Disease 6, Early Onset or affiliated genes

Publications for Parkinson Disease 6, Early Onset

Genes related to Parkinson Disease 6, Early Onset

Sources:
¹⁸GeneCards, ¹antibodies-online, ⁴⁵Novus Biologicals, ⁴⁶OMIM, ⁷Clinvar, ⁶³UniProtKB/Swiss-Prot
See all sources

Genes related to Parkinson Disease 6, Early Onset:

- Elite gene

id	Symbol	Products	Description	Score	Implication
1	PINK1		PTEN induced putative kinase 1	20.00	Molecular basis known ⁴⁶ Pathogenic ⁷ Causative variation ⁶³

Products for genes related to Parkinson Disease 6, Early Onset disease:

id	Company	Proteins	Lysates	Antibodies	Kits and Assays
1	Antibodies-online	1	-	1	1
2	Novus Biologicals	1	1	1	-

Variations for Parkinson Disease 6, Early Onset

Sources:
⁶³UniProtKB/Swiss-Prot, ⁷Clinvar
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease 6, Early Onset:

⁶³ (show all 23)

id	Symbol	AA change	Variation ID
1	PINK1	p.Gly309Asp	VAR_018994
2	PINK1	p.Cys92Phe	VAR_046568
3	PINK1	p.Ala168Pro	VAR_046575
4	PINK1	p.Pro196Leu	VAR_046577
5	PINK1	p.Ala217Asp	VAR_046578
6	PINK1	p.Glu240Lys	VAR_046581
7	PINK1	p.Leu268Val	VAR_046584
8	PINK1	p.His271Gln	VAR_046585
9	PINK1	p.Arg279His	VAR_046587
10	PINK1	p.Thr313Met	VAR_046589
11	PINK1	p.Leu347Pro	VAR_046593
12	PINK1	p.Cys388Arg	VAR_046596
13	PINK1	p.Glu417Gly	VAR_046599
14	PINK1	p.Arg464His	VAR_046605
15	PINK1	p.Leu489Pro	VAR_046607
16	PINK1	p.Cys125Gly	VAR_062773
17	PINK1	p.Ala280Thr	VAR_062774
18	PINK1	p.Leu369Pro	VAR_062775
19	PINK1	p.Gly386Ala	VAR_062776
20	PINK1	p.Pro399Leu	VAR_062777
21	PINK1	p.Arg407Gln	VAR_062778
22	PINK1	p.Gly409Val	VAR_062779
23	PINK1	p.Gln126Pro	VAR_064344

Clinvar genetic disease variations for Parkinson Disease 6, Early Onset:

⁷ (show all 12)

id	Gene	Name	Type	Significance	SNP ID	Assembly	Location
1		NM_032409.2(PINK1): c.926G> A (p.Gly309Asp)	single nucleotide variant	Pathogenic	rs74315355	GRCh37	Chr 1, 20971132: 20971132
2		NM_032409.2(PINK1): c.813C> A (p.His271Gln)	single nucleotide variant	Pathogenic	rs28940284	GRCh37	Chr 1, 20971019: 20971019
3		NM_032409.2(PINK1): c.1311G> A (p.Trp437Ter)	single nucleotide variant	Pathogenic	rs74315356	GRCh37	Chr 1, 20975547: 20975547
4	PINK1	NM_032409.2(PINK1): c.736C> T (p.Arg246Ter)	single nucleotide variant	Pathogenic	rs74315357	GRCh37	Chr 1, 20966445: 20966445
5		NM_032409.2(PINK1): c.1040T> C (p.Leu347Pro)	single nucleotide variant	Pathogenic	rs28940285	GRCh37	Chr 1, 20972133: 20972133
6	PINK1	PINK1, 4-BP INS, 1573TTAG	insertion	Pathogenic
7	PINK1	PINK1, 3-BP INS, 1602CAA	insertion	Pathogenic
8		NM_032409.2(PINK1): c.836G> A (p.Arg279His)	single nucleotide variant	Pathogenic	rs74315358	GRCh37	Chr 1, 20971042: 20971042
9	PINK1	PINK1, EX6-8DEL	deletion	Pathogenic
10		NM_032409.2(PINK1): c.938C> T (p.Thr313Met)	single nucleotide variant	Pathogenic	rs74315359	GRCh37	Chr 1, 20971144: 20971144
11	PINK1	NM_032409.2(PINK1): c.650C> A (p.Ala217Asp)	single nucleotide variant	Pathogenic	rs74315360	GRCh37	Chr 1, 20964597: 20964597
12		NM_032409.2(PINK1): c.1366C> T (p.Gln456Ter)	single nucleotide variant	Pathogenic	rs45539432	GRCh37	Chr 1, 20975602: 20975602