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SCAR17
MCID: SPN298
MIFTS: 43
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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:
Name: Spinocerebellar Ataxia, Autosomal Recessive 17
57
71
Characteristics:Inheritance:
Spinocerebellar Ataxia, Autosomal Recessive 17:
Autosomal recessive 57
Autosomal Recessive Cerebellar Ataxia Due to Cwf19l1 Deficiency:
Autosomal recessive 58
Prevelance:
Autosomal Recessive Cerebellar Ataxia Due to Cwf19l1 Deficiency:
<1/1000000 (Worldwide) 58
Age Of Onset:
Autosomal Recessive Cerebellar Ataxia Due to Cwf19l1 Deficiency:
Infancy,Neonatal 58
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:
32
Orphanet: 58
Rare neurological diseases |
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UniProtKB/Swiss-Prot: 73 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, also known as autosomal recessive spinocerebellar ataxia 17, is related to cerebellar ataxia type 47 and cerebral palsy, ataxic, autosomal recessive, 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), and among its related pathways/superpathways are NFAT and Cardiac Hypertrophy and CCR5 Pathway in Macrophages. Affiliated tissues include spinal cord, cerebellum and eye, and related phenotypes are dysarthria and global developmental delay Orphanet: 58 A rare autosomal recessive cerebellar ataxia characterized by early onset of slowly progressive cerebellar atrophy, clinically manifesting with extremity and truncal ataxia, global developmental delay, intellectual impairment, nystagmus, dysarthria, intention tremor, and pyramidal signs, among others. OMIM®: 57 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) (Updated 24-Oct-2022) Disease Ontology: 11 An autosomal recessive cerebellar ataxia that has material basis in homozygous mutation in the CWF19L1 gene on chromosome 10q24. |
Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 17:58 30 (show all 33)
Symptoms via clinical synopsis from OMIM®:57 (Updated 24-Oct-2022)Clinical features from OMIM®:616127 (Updated 24-Oct-2022)UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 17:tremor; ataxia, truncal |
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Organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 17:
MalaCards :
Spinal Cord,
Cerebellum,
Eye
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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):(show all 15) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 17:5 (show all 17)
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Search
GEO
for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 17.
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Pathways related to Spinocerebellar Ataxia, Autosomal Recessive 17 according to GeneCards Suite gene sharing:
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Biological processes related to Spinocerebellar Ataxia, Autosomal Recessive 17 according to GeneCards Suite gene sharing:
Molecular functions related to Spinocerebellar Ataxia, Autosomal Recessive 17 according to GeneCards Suite gene sharing:
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