SCAR25
MCID: SPN378
MIFTS: 21
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Spinocerebellar Ataxia, Autosomal Recessive 25 (SCAR25)
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 25:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset in early childhood nonprogressive disorder one consanguineous turkish family has been reported (last curated july 2017) HPO:31
spinocerebellar ataxia, autosomal recessive 25:
Inheritance autosomal recessive inheritance Onset and clinical course 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 |
UniProtKB/Swiss-Prot :
73
Spinocerebellar ataxia, autosomal recessive, 25: 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. SCAR25 patients manifest delayed psychomotor development with delayed walking, truncal ataxia, dysmetria, and nystagmus, Cerebellar hypoplasia is seen on brain imaging.
MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 25, is also known as scar25. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 25 is ATG5 (Autophagy Related 5). Affiliated tissues include cerebellum and spinal cord, and related phenotypes are nystagmus and global developmental delay Disease Ontology : 12 An autosomal recessive cerebellar ataxia that has material basis in homozygous mutation in the ATG5 gene on chromosome 6q21. |
Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 25:31 (show all 7)
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MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 25:40
Cerebellum,
Spinal Cord
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Articles related to Spinocerebellar Ataxia, Autosomal Recessive 25:
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ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 25:6
UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 25:73
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Search
GEO
for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 25.
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