|
PARK14
MCID: PRK071
MIFTS: 33
|
Parkinson Disease 14, Autosomal Recessive (PARK14)
Categories:
Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
|
|
|
|
MalaCards integrated aliases for Parkinson Disease 14, Autosomal Recessive:
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 Muscle diseases Mental diseases
ICD10:
34
|
|
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 tremor, clumsiness and abnormality of extrapyramidal motor function. 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 Disease Ontology : 12 A late-onset Parkinson disease that has material basis in homozygous mutation in the PLA2G6 gene on chromosome 22q13. 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.
Description from OMIM:
612953
|
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:612953Human phenotypes related to Parkinson Disease 14, Autosomal Recessive:59 32 (show all 37)
UMLS symptoms related to Parkinson Disease 14, Autosomal Recessive:tremor, clumsiness, abnormality of extrapyramidal motor function, bradykinesia, personality changes, muscle rigidity, muscle spasticity |
Interventional clinical trials:
Cochrane evidence based reviews: dystonia-parkinsonism, adult-onset |
MalaCards organs/tissues related to Parkinson Disease 14, Autosomal Recessive:41
Eye,
Brain
|
Articles related to Parkinson Disease 14, Autosomal Recessive:
|
Genes related to Parkinson Disease 14, Autosomal Recessive (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
|
UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease 14, Autosomal Recessive:75
ClinVar genetic disease variations for Parkinson Disease 14, Autosomal Recessive:6 (show all 13)
|
|
Search
GEO
for disease gene expression data for Parkinson Disease 14, Autosomal Recessive.
|
|
|
|