SCAR28
MCID: SPN440
MIFTS: 16
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Spinocerebellar Ataxia, Autosomal Recessive 28 (SCAR28)
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 28:
Name: Spinocerebellar Ataxia, Autosomal Recessive 28
56
6
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
onset in early childhood three families of ashkenazi jewish descent have been reported (last curated march 2020) 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 |
OMIM :
56
Autosomal recessive spinocerebellar ataxia-28 (SCAR28) is a neurologic disorder characterized by onset in early childhood of mildly delayed motor development, gait ataxia, incoordination of fine motor movements, and dysarthria. Affected individuals may have features of spasticity and may show mildly impaired cognitive function. Brain imaging shows cerebellar vermis hypoplasia (summary by Walker et al., 2019). (618800)
MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 28, is also known as scar28. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 28 is THG1L (TRNA-Histidine Guanylyltransferase 1 Like). Affiliated tissues include brain. |
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618800 |
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MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 28:40
Brain
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Articles related to Spinocerebellar Ataxia, Autosomal Recessive 28:
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ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 28:6
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Search
GEO
for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 28.
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