Parkinson Disease 14, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: PRK071 MIFTS: 30	Parkinson Disease 14, Autosomal Recessive Categories: Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Mental diseases
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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:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Extrapyramidal and movement disorders

Dystonia

Idiopathic familial dystonia

Orphanet: ⁵⁹

Rare neurological diseases

Inborn errors of metabolism

External Ids:

OMIM ⁵⁷ 612953

Disease Ontology ¹² DOID:0060900

Orphanet ⁵⁹ ORPHA199351

ICD10 via Orphanet ³⁴ G24.1

UMLS via Orphanet ⁷⁴ C2751842

MedGen ⁴² C2751842

MeSH ⁴⁴ D004421 D020734

SNOMED-CT via HPO ⁶⁹ 258211005 248149005 246768008 more

UMLS ⁷³ C2751842

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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

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Related Diseases for Parkinson Disease 14, Autosomal Recessive

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 14, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	dystonia	10.0

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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

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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

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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

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Anatomical Context for Parkinson Disease 14, Autosomal Recessive

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

⁴¹

Eye, Brain

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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 )	PaisA!n-Ruiz C....Houlden H.	2012
2	Comparison of striatal 18F-dopa uptake in adult-onset dystonia-parkinsonism, Parkinson's disease, and dopa-responsive dystonia. ( 8351012 )	Turjanski N....Brooks D.J.	1993

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Genes for Parkinson Disease 14, Autosomal Recessive

Genes related to Parkinson Disease 14, Autosomal Recessive (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PLA2G6	Phospholipase A2 Group VI	Protein Coding	1650	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹	18570303 18981035 20301402 (more) 23279440 20938027 21700586

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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

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Expression for Parkinson Disease 14, Autosomal Recessive

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

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Pathways for Parkinson Disease 14, Autosomal Recessive

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GO Terms for Parkinson Disease 14, Autosomal Recessive

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Sources for Parkinson Disease 14, Autosomal Recessive

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

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¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

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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