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MCID: SPN203
MIFTS: 19
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Spinocerebellar Ataxia, X-Linked 5
Categories:
Neuronal diseases, Rare diseases, Ear diseases, Mental diseases, Genetic diseases, Eye diseases
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MalaCards integrated aliases for Spinocerebellar Ataxia, X-Linked 5:
Characteristics:Orphanet epidemiological data:59
x-linked non progressive cerebellar ataxia
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM:57
Miscellaneous:
onset in infancy nonprogressive disorder symptoms tend to improve with age patients achieve ambulation
Inheritance:
x-linked recessive HPO:32
spinocerebellar ataxia, x-linked 5:
Onset and clinical course infantile onset nonprogressive Inheritance x-linked recessive inheritance Classifications:
MalaCards categories:
Global: Rare diseases Genetic diseases Anatomical: Neuronal diseases Ear diseases Mental diseases Eye diseases
ICD10:
34
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MalaCards based summary
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Spinocerebellar Ataxia, X-Linked 5, is also known as scax5, and has symptoms including ataxia and action tremor. An important gene associated with Spinocerebellar Ataxia, X-Linked 5 is ATP2B3 (ATPase Plasma Membrane Ca2+ Transporting 3). Related phenotypes are nonprogressive cerebellar ataxia and strabismus
Description from OMIM:
300703
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Diseases in the Spinocerebellar Ataxia, X-Linked 1 family:
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Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:300703Human phenotypes related to Spinocerebellar Ataxia, X-Linked 5:59 32 (show all 20)
UMLS symptoms related to Spinocerebellar Ataxia, X-Linked 5:ataxia, action tremor |
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Genes related to Spinocerebellar Ataxia, X-Linked 5 (2 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Spinocerebellar Ataxia, X-Linked 5.
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