SCAR28
MCID: SPN440
MIFTS: 22
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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:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset in early childhood three families of ashkenazi jewish descent have been reported (last curated march 2020) HPO:31Classifications:
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 |
UniProtKB/Swiss-Prot :
73
Spinocerebellar ataxia, autosomal recessive, 28: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR28 patients manifest mild motor developmental delay, gait ataxia, and dysarthria. Some patients show mildly impaired intellectual development. Disease onset is in early childhood.
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 cerebellum and spinal cord, and related phenotypes are abnormal pyramidal sign and dysarthria OMIM® : 57 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) (Updated 05-Mar-2021) |
Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 28:31 (show all 14)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618800 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 28:40
Cerebellum,
Spinal Cord
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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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