DISEASES

Disease-gene associations mined from literature

Human genes for familial isolated deficiency of vitamin E

Familial isolated deficiency of vitamin E [DOID:0090028]

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.

Synonyms:  familial isolated deficiency of vitamin E,  DOID:0090028,  hereditary isolated deficiency of vitamin E,  familial isolated deficiency of vitamin Es,  ataxia with isolated vitamin E deficiency ...