XPDS
MCID: PRK066
MIFTS: 28
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Parkinsonism with Spasticity, X-Linked (XPDS)
Categories:
Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Parkinsonism with Spasticity, X-Linked:
Characteristics:Orphanet epidemiological data:59
x-linked parkinsonism-spasticity syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult; OMIM:57
Miscellaneous:
slowly progressive one family has been reported (last curated november 2013) variable age at onset (range 14 to 50 years) some response to l-dopa therapy spasticity occurs before parkinsonism
Inheritance:
x-linked recessive HPO:32
parkinsonism with spasticity, x-linked:
Inheritance autosomal recessive inheritance x-linked recessive inheritance Onset and clinical course slow progression Classifications: |
UniProtKB/Swiss-Prot
:
74
Parkinsonism with spasticity, X-linked: A syndrome characterized by parkinsonian features, such as cogwheel rigidity, resting tremor and bradykinesia, and variably penetrant spasticity.
MalaCards based summary : Parkinsonism with Spasticity, X-Linked, also known as xpds, is related to xeroderma pigmentosum, complementation group d and trichothiodystrophy 1, photosensitive, and has symptoms including bradykinesia, cogwheel rigidity and resting tremor. An important gene associated with Parkinsonism with Spasticity, X-Linked is ATP6AP2 (ATPase H+ Transporting Accessory Protein 2). Related phenotypes are cogwheel rigidity and resting tremor
More information from OMIM:
300911
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Human phenotypes related to Parkinsonism with Spasticity, X-Linked:59 32 (show all 16)
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:300911UMLS symptoms related to Parkinsonism with Spasticity, X-Linked:bradykinesia, cogwheel rigidity, resting tremor |
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Articles related to Parkinsonism with Spasticity, X-Linked:
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ClinVar genetic disease variations for Parkinsonism with Spasticity, X-Linked:6
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Search
GEO
for disease gene expression data for Parkinsonism with Spasticity, X-Linked.
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