familial isolated deficiency of vitamin E (DOID:0090028)
Alliance: disease page
Synonyms: ataxia with isolated vitamin E deficiency; familial isolated vitamin E deficiency
Alt IDs: OMIM:277460, MESH:C535393, NCI:C155996, ORDO:96, UMLS_CUI:C1848533
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.