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SCAR17
MCID: SPN298
MIFTS: 28
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Spinocerebellar Ataxia, Autosomal Recessive 17 (SCAR17)
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, Autosomal Recessive 17:
Characteristics:Orphanet epidemiological data:58
autosomal recessive cerebellar ataxia due to cwf19l1 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy slowly progressive disorder HPO:31
spinocerebellar ataxia, autosomal recessive 17:
Inheritance autosomal recessive inheritance Onset and clinical course infantile onset slow progression nonprogressive 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
Rare neurological diseases |
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UniProtKB/Swiss-Prot :
73
Spinocerebellar ataxia, autosomal recessive, 17: 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. SCAR17 features include non-progressive congenital cerebellar ataxia, mildly delayed walking with an unsteady gait and frequent falls, dysarthria, dysmetria, hypotonia in the extremities, truncal ataxia, increased reflexes in the lower extremities, and intellectual disability.
MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 17, is also known as scar17, and has symptoms including tremor and ataxia, truncal. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 17 is CWF19L1 (CWF19 Like Cell Cycle Control Factor 1). Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are global developmental delay and delayed speech and language development Disease Ontology : 12 An autosomal recessive cerebellar ataxia that has material basis in homozygous mutation in the CWF19L1 gene on chromosome 10q24. OMIM : 56 Autosomal recessive spinocerebellar ataxia-17 (SCAR17) is a neurologic disorder characterized by onset of gait ataxia and cerebellar signs in early childhood. Patients also have variably impaired intellectual development (summary by Evers et al., 2016). (616127) |
Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 17:58 31 (show all 29)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:616127UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 17:tremor, ataxia, truncal |
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MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 17:40
Eye,
Cerebellum,
Spinal Cord
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Articles related to Spinocerebellar Ataxia, Autosomal Recessive 17:
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Genes related to Spinocerebellar Ataxia, Autosomal Recessive 17 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 17:6
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Search
GEO
for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 17.
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