MCID: PRK071
MIFTS: 30

Parkinson Disease 14, Autosomal Recessive

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Mental diseases

Aliases & Classifications for Parkinson Disease 14, Autosomal Recessive

MalaCards integrated aliases for Parkinson Disease 14, Autosomal Recessive:

Name: Parkinson Disease 14, Autosomal Recessive 57 53 73
Parkinson Disease 14 75 29 13 6
Park14 57 53 59 75
Dystonia-Parkinsonism, Paisan-Ruiz Type 53 59
Pla2g6-Related Dystonia-Parkinsonism 53 59
Dystonia-Parkinsonism, Adult-Onset 57 53
Adult-Onset Dystonia-Parkinsonism 53 59
Autosomal Recessive Parkinson's Disease 14 12
Autosomal Recessive Parkinson Disease 14 12
Parkinson Disease 14 Autosomal Recessive 75
Dystonia-Parkinsonism Paisan-Ruiz Type 75
Dystonia-Parkinsonism Adult-Onset 75
Parkinson Disease, Type 14 40

Characteristics:

Orphanet epidemiological data:

59
adult-onset dystonia-parkinsonism
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
rapidly progressive
onset in young adulthood
favorable initial response to l-dopa
foot dragging may appear in childhood
l-dopa-induced dyskinesias


HPO:

32
parkinson disease 14, autosomal recessive:
Onset and clinical course rapidly progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Parkinson Disease 14, Autosomal Recessive

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 199351Disease definitionAdult-onset dystonia-parkinsonism is a 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 : Parkinson Disease 14, Autosomal Recessive, also known as parkinson disease 14, is related to dystonia, and has symptoms including muscle rigidity, muscle spasticity and tremor. An important gene associated with Parkinson Disease 14, Autosomal Recessive is PLA2G6 (Phospholipase A2 Group VI). Affiliated tissues include eye and brain, and related phenotypes are depressivity and seizures

UniProtKB/Swiss-Prot : 75 Parkinson disease 14: An adult-onset progressive neurodegenerative disorder characterized by parkinsonism, dystonia, severe cognitive decline, cerebral and cerebellar atrophy and absent iron in the basal ganglia on magnetic resonance imaging.

Disease Ontology : 12 A late-onset Parkinson disease that has material basis in homozygous mutation in the PLA2G6 gene on chromosome 22q13.

Description from OMIM: 612953

Related Diseases for Parkinson Disease 14, Autosomal Recessive

Symptoms & Phenotypes for Parkinson Disease 14, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
spasticity
dysarthria
tremor
hyperreflexia
dystonia
more
Head And Neck Eyes:
supranuclear gaze palsy
eyelid opening apraxia
hypometric vertical saccades

Head And Neck Face:
facial hypomimia

Neurologic Behavioral Psychiatric Manifestations:
personality changes
depression
aggression

Laboratory Abnormalities:
increased serum creatine kinase


Clinical features from OMIM:

612953

Human phenotypes related to Parkinson Disease 14, Autosomal Recessive:

59 32 (show all 36)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
2 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
3 spasticity 59 32 frequent (33%) Frequent (79-30%) HP:0001257
4 dysarthria 59 32 frequent (33%) Frequent (79-30%) HP:0001260
5 tremor 59 32 frequent (33%) Frequent (79-30%) HP:0001337
6 hyperreflexia 59 32 frequent (33%) Frequent (79-30%) HP:0001347
7 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
8 global developmental delay 59 32 occasional (7.5%) Occasional (29-5%) HP:0001263
9 myoclonus 59 32 occasional (7.5%) Occasional (29-5%) HP:0001336
10 dystonia 59 32 Occasional (29-5%) HP:0001332
11 rigidity 59 32 frequent (33%) Frequent (79-30%) HP:0002063
12 paranoia 59 32 occasional (7.5%) Occasional (29-5%) HP:0011999
13 dyslexia 59 32 frequent (33%) Frequent (79-30%) HP:0010522
14 clumsiness 59 32 frequent (33%) Frequent (79-30%) HP:0002312
15 bradykinesia 59 32 frequent (33%) Frequent (79-30%) HP:0002067
16 frontotemporal cerebral atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0006892
17 neurofibrillary tangles 59 32 frequent (33%) Frequent (79-30%) HP:0002185
18 personality changes 59 32 occasional (7.5%) Occasional (29-5%) HP:0000751
19 hypomimic face 59 32 frequent (33%) Frequent (79-30%) HP:0000338
20 hypometric saccades 59 32 frequent (33%) Frequent (79-30%) HP:0000571
21 eyelid apraxia 59 32 frequent (33%) Frequent (79-30%) HP:0000658
22 frontotemporal dementia 59 32 frequent (33%) Frequent (79-30%) HP:0002145
23 postural instability 59 32 frequent (33%) Frequent (79-30%) HP:0002172
24 parkinsonism with favorable response to dopaminergic medication 59 32 frequent (33%) Frequent (79-30%) HP:0002548
25 focal dystonia 59 32 frequent (33%) Frequent (79-30%) HP:0004373
26 generalized cerebral atrophy/hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0007058
27 progressive extrapyramidal movement disorder 59 32 frequent (33%) Frequent (79-30%) HP:0007153
28 stiff hip 59 32 frequent (33%) Frequent (79-30%) HP:0025262
29 abnormal levels of creatine kinase in blood 59 32 frequent (33%) Frequent (79-30%) HP:0040081
30 supranuclear gaze palsy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000605
31 iron accumulation in brain 59 32 occasional (7.5%) Occasional (29-5%) HP:0012675
32 elevated serum creatine phosphokinase 32 HP:0003236
33 aggressive behavior 32 HP:0000718
34 parkinsonism 32 HP:0001300
35 delusions 59 Occasional (29-5%)
36 global brain atrophy 32 HP:0002283

UMLS symptoms related to Parkinson Disease 14, Autosomal Recessive:


muscle rigidity, muscle spasticity, tremor, bradykinesia, clumsiness, abnormality of extrapyramidal motor function, personality changes

Drugs & Therapeutics for Parkinson Disease 14, Autosomal Recessive

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Unlocking Dystonia From Parkinson's Disease With Directional DBS Technology Enrolling by invitation NCT03409120 Not Applicable

Search NIH Clinical Center for Parkinson Disease 14, Autosomal Recessive

Genetic Tests for Parkinson Disease 14, Autosomal Recessive

Genetic tests related to Parkinson Disease 14, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Parkinson Disease 14 29 PLA2G6

Anatomical Context for Parkinson Disease 14, Autosomal Recessive

MalaCards organs/tissues related to Parkinson Disease 14, Autosomal Recessive:

41
Eye, Brain

Publications for Parkinson Disease 14, Autosomal Recessive

Articles related to Parkinson Disease 14, Autosomal Recessive:

# Title Authors Year
1
Widespread Lewy body and tau accumulation in childhood and adult onset dystonia-parkinsonism cases with PLA2G6 mutations. ( 20619503 )
2012
2
Comparison of striatal 18F-dopa uptake in adult-onset dystonia-parkinsonism, Parkinson's disease, and dopa-responsive dystonia. ( 8351012 )
1993

Variations for Parkinson Disease 14, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease 14, Autosomal Recessive:

75
# Symbol AA change Variation ID SNP ID
1 PLA2G6 p.Arg741Gln VAR_062530 rs121908686
2 PLA2G6 p.Arg747Trp VAR_062531 rs121908687

ClinVar genetic disease variations for Parkinson Disease 14, Autosomal Recessive:

6
(show all 11)
# Gene Variation Type Significance SNP ID Assembly Location
1 PLA2G6 NM_003560.3(PLA2G6): c.2222G> A (p.Arg741Gln) single nucleotide variant Pathogenic rs121908686 GRCh37 Chromosome 22, 38508565: 38508565
2 PLA2G6 NM_003560.3(PLA2G6): c.2222G> A (p.Arg741Gln) single nucleotide variant Pathogenic rs121908686 GRCh38 Chromosome 22, 38112558: 38112558
3 PLA2G6 NM_003560.3(PLA2G6): c.2239C> T (p.Arg747Trp) single nucleotide variant Pathogenic rs121908687 GRCh37 Chromosome 22, 38508548: 38508548
4 PLA2G6 NM_003560.3(PLA2G6): c.2239C> T (p.Arg747Trp) single nucleotide variant Pathogenic rs121908687 GRCh38 Chromosome 22, 38112541: 38112541
5 PLA2G6 NM_003560.3(PLA2G6): c.1904G> A (p.Arg635Gln) single nucleotide variant Pathogenic rs387906863 GRCh37 Chromosome 22, 38511664: 38511664
6 PLA2G6 NM_003560.3(PLA2G6): c.1904G> A (p.Arg635Gln) single nucleotide variant Pathogenic rs387906863 GRCh38 Chromosome 22, 38115657: 38115657
7 PLA2G6 NM_003560.3(PLA2G6): c.1354C> T (p.Gln452Ter) single nucleotide variant Pathogenic rs387906864 GRCh37 Chromosome 22, 38522451: 38522451
8 PLA2G6 NM_003560.3(PLA2G6): c.1354C> T (p.Gln452Ter) single nucleotide variant Pathogenic rs387906864 GRCh38 Chromosome 22, 38126444: 38126444
9 PLA2G6 PLA2G6, PHE72LEU undetermined variant Pathogenic
10 PLA2G6 NM_003560.3(PLA2G6): c.991G> T (p.Asp331Tyr) single nucleotide variant Pathogenic rs199935023 GRCh37 Chromosome 22, 38528924: 38528924
11 PLA2G6 NM_003560.3(PLA2G6): c.991G> T (p.Asp331Tyr) single nucleotide variant Pathogenic rs199935023 GRCh38 Chromosome 22, 38132917: 38132917

Expression for Parkinson Disease 14, Autosomal Recessive

Search GEO for disease gene expression data for Parkinson Disease 14, Autosomal Recessive.

Pathways for Parkinson Disease 14, Autosomal Recessive

GO Terms for Parkinson Disease 14, Autosomal Recessive

Sources for Parkinson Disease 14, Autosomal Recessive

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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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