SCA19
MCID: SPN095
MIFTS: 32
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Spinocerebellar Ataxia 19 (SCA19)
Categories:
Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Spinocerebellar Ataxia 19:
Characteristics:Orphanet epidemiological data:58
spinocerebellar ataxia type 19/22
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult; OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
slowly progressive variable age at onset (range teens to late adult) HPO:31
spinocerebellar ataxia 19:
Inheritance autosomal dominant inheritance Onset and clinical course slow progression Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Liver diseases Skin diseases Ear diseases Muscle diseases Mental diseases
ICD10:
33
Orphanet: 58
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UniProtKB/Swiss-Prot :
73
Spinocerebellar ataxia 19: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA19 is a relatively mild, cerebellar ataxic syndrome with cognitive impairment, pyramidal tract involvement, tremor and peripheral neuropathy, and mild atrophy of the cerebellar hemispheres and vermis.
MalaCards based summary : Spinocerebellar Ataxia 19, also known as spinocerebellar ataxia 22, is related to lichtenstein-knorr syndrome and spinocerebellar ataxia, autosomal recessive 22, and has symptoms including gait ataxia, cerebellar ataxia and ataxia, truncal. An important gene associated with Spinocerebellar Ataxia 19 is KCND3 (Potassium Voltage-Gated Channel Subfamily D Member 3). Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are hyperreflexia and cogwheel rigidity |
Human phenotypes related to Spinocerebellar Ataxia 19:58 31 (show all 27)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:607346UMLS symptoms related to Spinocerebellar Ataxia 19:gait ataxia, cerebellar ataxia, ataxia, truncal |
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MalaCards organs/tissues related to Spinocerebellar Ataxia 19:40
Eye,
Cerebellum,
Spinal Cord
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Articles related to Spinocerebellar Ataxia 19:
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ClinVar genetic disease variations for Spinocerebellar Ataxia 19:6 (show top 50) (show all 56)
UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 19:73
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Search
GEO
for disease gene expression data for Spinocerebellar Ataxia 19.
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