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Metadata
ID DOID:0090028
Name familial isolated deficiency of vitamin E
Definition A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12.
https://www.ncbi.nlm.nih.gov/pubmed/2298915, https://www.ncbi.nlm.nih.gov/pubmed/7719340
Xrefs

MESH:C535393

OMIM:277460

ORDO:96

UMLS_CUI:C1848533

Synonyms

ataxia with isolated vitamin E deficiency [EXACT]

familial isolated vitamin E deficiency [EXACT]

Parent Relationships

is_a vitamin metabolic disorder

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