FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term familial isolated deficiency of vitamin E ID (Ontology) DOID:0090028 (Human Disease)
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.
Also Known As "ataxia with isolated vitamin E deficiency" ; "familial isolated vitamin E deficiency"
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 familial isolated deficiency of vitamin E       9
 for disease ribbon | familial isolated deficiency of vitamin E       9
 model of | familial isolated deficiency of vitamin E       9
Spanning Tree (Parents/Children)
Only view relationship: 
  inherited metabolic disorder
   |__vitamin metabolic disorder
       |__familial isolated deficiency of vitamin E  9 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a vitamin metabolic disorder
Part of
hide Synonyms & Secondary IDs
Synonyms
  • "ataxia with isolated vitamin E deficiency" EXACT
    "familial isolated vitamin E deficiency" EXACT
Secondary IDs
hide External Crossreferences & Linkouts
MESH:C535393
MIM:277460
NCI:C155996
ORDO:96
SNOMEDCT_US_2023_03_01:702442008
UMLS_CUI:C1848533