MCID: NBD001
MIFTS: 11

Nbia/dyt/park-Pla2g6

Categories: Rare diseases

Aliases & Classifications for Nbia/dyt/park-Pla2g6

MalaCards integrated aliases for Nbia/dyt/park-Pla2g6:

Name: Nbia/dyt/park-Pla2g6 53
Parkinson Disease 14, Autosomal Recessive 53
Dystonia-Parkinsonism, Paisan-Ruiz Type 53
Pla2g6-Related Dystonia-Parkinsonism 53
Dystonia-Parkinsonism, Adult-Onset 53
Adult-Onset Dystonia-Parkinsonism 53
Park14 53

Classifications:



Summaries for Nbia/dyt/park-Pla2g6

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 199351DefinitionA rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline.EpidemiologyPrevalence is unknown. Only 14 cases have been reported to date.Clinical descriptionDisease onset occurs in late adolescence or early adulthood (usually before the age of 30) and usually presents with parkinsonism (tremor, rigidity, bradykinesia), dystonia and rapid cognitive decline. Eye movement abnormalities (supranuclear vertical gaze palsy, eyelid opening apraxia), pyramidal tract signs, and psychiatric features such as depression and personality changes have also been reported in some patients. Dopaminergic treatment is initially successful with regard to parkinsonism, but the development of prominent dyskinesias often follows.EtiologyAdult-onset dystonia-parkinsonism is caused by mutations in the phospholipase A2, group VI (PLA2G6) gene located on chromosome 22q13.1.Genetic counselingAdult-onset dystonia-parkinsonism is inherited in an autosomal recessive manner, and genetic counseling is possible and recommended.Visit the Orphanet disease page for more resources.

MalaCards based summary : Nbia/dyt/park-Pla2g6, also known as parkinson disease 14, autosomal recessive, is related to parkinson disease 14, autosomal recessive and multiple system atrophy 1. Affiliated tissues include eye.

Related Diseases for Nbia/dyt/park-Pla2g6

Diseases related to Nbia/dyt/park-Pla2g6 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 parkinson disease 14, autosomal recessive 12.6
2 multiple system atrophy 1 10.4
3 dystonia, juvenile-onset 10.2
4 early-onset parkinson's disease 10.2
5 dystonia 10.2
6 neurodegeneration with brain iron accumulation 2a 10.1
7 neurodegeneration with brain iron accumulation 10.1
8 neuroaxonal dystrophy 10.1

Graphical network of the top 20 diseases related to Nbia/dyt/park-Pla2g6:



Diseases related to Nbia/dyt/park-Pla2g6

Symptoms & Phenotypes for Nbia/dyt/park-Pla2g6

Drugs & Therapeutics for Nbia/dyt/park-Pla2g6

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Unlocking Dystonia From Parkinson's Disease With Directional DBS Technology Enrolling by invitation NCT03409120

Search NIH Clinical Center for Nbia/dyt/park-Pla2g6

Genetic Tests for Nbia/dyt/park-Pla2g6

Anatomical Context for Nbia/dyt/park-Pla2g6

MalaCards organs/tissues related to Nbia/dyt/park-Pla2g6:

41
Eye

Publications for Nbia/dyt/park-Pla2g6

Articles related to Nbia/dyt/park-Pla2g6:

# Title Authors PMID Year
1
Aripiprazole in a Patient of PLA2G6-Associated Neurodegeneration With Psychosis. 38
29916839 2018
2
A new PLA2G6 mutation in a family with infantile neuroaxonal dystrophy. 38
28991683 2017
3
PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism. 38
27127721 2016
4
PLA2G6-Associated Neurodegeneration 38
20301718 2008

Variations for Nbia/dyt/park-Pla2g6

Expression for Nbia/dyt/park-Pla2g6

Search GEO for disease gene expression data for Nbia/dyt/park-Pla2g6.

Pathways for Nbia/dyt/park-Pla2g6

GO Terms for Nbia/dyt/park-Pla2g6

Sources for Nbia/dyt/park-Pla2g6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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