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MCID: SPN111
MIFTS: 15
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Spinocerebellar Ataxia Autosomal Recessive 5
Categories:
Rare diseases, Genetic diseases, Neuronal diseases, Skin diseases, Eye diseases, Mental diseases, Ear diseases, Metabolic diseases, Fetal diseases, Liver diseases
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MalaCards integrated aliases for Spinocerebellar Ataxia Autosomal Recessive 5:
Name: Spinocerebellar Ataxia Autosomal Recessive 5
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Classifications:
MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases Fetal diseases Anatomical: Neuronal diseases Skin diseases Eye diseases Mental diseases Ear diseases Liver diseases |
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NIH Rare Diseases
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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 83472Disease definitionCAMOS syndrome is characterised by the association of a non-progressive congenitalataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.Visit the Orphanet disease page for more resources.
MalaCards based summary : Spinocerebellar Ataxia Autosomal Recessive 5, also known as cerebellar ataxia with mental retardation optic atrophy and skin abnormalities, is related to galloway-mowat syndrome 1. An important gene associated with Spinocerebellar Ataxia Autosomal Recessive 5 is ZNF592 (Zinc Finger Protein 592). Affiliated tissues include skin. |
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MalaCards organs/tissues related to Spinocerebellar Ataxia Autosomal Recessive 5:41
Skin
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Genes related to Spinocerebellar Ataxia Autosomal Recessive 5 (0 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Spinocerebellar Ataxia Autosomal Recessive 5.
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