familial isolated deficiency of vitamin E
Findings
No curated finding names familial isolated deficiency of vitamin E yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.
Definition from the Mondo Disease Ontology (MONDO:0010188), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
41 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- AtaxiaHPOHP:0001251
- 1 of 1 reported patient
- Very frequent (80% to 99% of cases)
- Cerebellar atrophyHPOHP:0001272
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- ClumsinessHPOHP:0002312
- 1 of 1 reported patient
- Frequent (30% to 79% of cases)
- Decreased circulating vitamin E concentrationHPOHP:0100513
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Delayed somatosensory central conduction timeHPOHP:0100291
- 1 of 1 reported patient
- DysarthriaHPOHP:0001260
Show the remaining 29
- Positive Romberg signHPOHP:0002403
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Progressive cerebellar ataxiaHPOHP:0002073
- 1 of 1 reported patient
- Short term memory impairmentHPOHP:0033687
- 1 of 1 reported patient
- Abnormal pyramidal signHPOHP:0007256
- Very frequent (80% to 99% of cases)
- AreflexiaHPOHP:0001284
- Very frequent (80% to 99% of cases)
- Babinski signHPOHP:0003487
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TTPAHGNC:12404
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2018
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: familial isolated deficiency of vitamin E
- Also called
- ataxia with isolated vitamin E deficiencyAtaxia with Vitamin E DeficiencyAVEDfamilial isolated deficiency of vitamin type Efamilial isolated vitamin E deficiencyFriedreich-like ataxiaisolated vitamin E deficiency