familial isolated deficiency of vitamin E

Summary

DOID:0090028 - familial isolated deficiency of vitamin E

Disease Ontology 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.

Synonyms: ataxia with isolated vitamin E deficiency, familial isolated vitamin E deficiency

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ttpa

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0010188 - protuberance

MONDO:0010188 - protuberance

MIM:

MIM:277460 - ATAXIA WITH VITAMIN E DEFICIENCY; AVED

MIM:277460 - ATAXIA WITH VITAMIN E DEFICIENCY; AVED

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): genetic disease (is_a), vitamin metabolic disorder (is_a)