familial isolated deficiency of vitamin E

Term ID

DOID:0090028

Synonyms

• ataxia with isolated vitamin E deficiency
• familial isolated vitamin E deficiency

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. (2)

References

• MESH:C535393
• NCI:C155996
• OMIM:277460
• ORDO:96
• SNOMEDCT_US_2023_03_01:702442008
• UMLS_CUI:C1848533

Ontology

Human Disease   ( DOID:0090028 )