Details of Disease

Disease Name

Familial isolated deficiency of vitamin E

ataxia with vitamin E deficiency; VED; ataxia, Friedreich-like, with selective vitamin E deficiency; Friedreich-like ataxia with selective vitamin E deficiency; vitamin E, familial isolated deficiency OF; Friedreich-like ataxia; familial isolated deficiency of vitamin type E; isolated vitamin E deficiency; AVED; familial isolated vitamin E deficiency; ataxia with isolated vitamin E deficiency; Ataxia with Vitamin E Deficiency

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.

Disease Hierarchy

DISSYRHC: Hereditary peripheral neuropathy

DISZF45C: Autosomal recessive metabolic cerebellar ataxia

DISLXUF3: Inborn vitamin metabolic disorder

DIS53306: Familial isolated deficiency of vitamin E

Disease Identifiers

MONDO ID

MONDO_0010188

MESH ID

C535393

UMLS CUI

C1848533

OMIM ID

277460

MedGen ID

341248

Orphanet ID

96

SNOMED CT ID

702442008

General Information of Disease (ID: DIS53306)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 7 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
TTPA	OTLEWIVP	Definitive	Autosomal recessive	[1]
COPRS	OTZO53O0	Limited	Genetic Variation	[5]
RRS1	OTTNCZN6	Limited	Biomarker	[2]
APTX	OTPAS5G8	Strong	Genetic Variation	[6]
COQ8A	OT1ETSA2	Strong	Genetic Variation	[6]
SETX	OTG3JNOQ	Strong	Genetic Variation	[6]
SH3BP4	OTVIRKW7	Strong	Genetic Variation	[7]
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⏷ Show the Full List of 7 DOT(s)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SRR	TTZFUY6	Limited	Biomarker	[2]
APOA1	TT5S8DR	Strong	Biomarker	[3]
APOB	TTN1IE2	Strong	Biomarker	[3]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
FXN	DEXVHDB	Strong	Biomarker	[4]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2	Impaired discrimination between stereoisomers of alpha-tocopherol in patients with familial isolated vitamin E deficiency.J Lipid Res. 1993 Feb;34(2):201-10.
3	A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency.Pediatr Res. 2008 Sep;64(3):262-4. doi: 10.1203/PDR.0b013e31817d9bf7.
4	Spastic ataxias.Handb Clin Neurol. 2018;155:191-203. doi: 10.1016/B978-0-444-64189-2.00012-3.
5	Molecular determinants of heritable vitamin E deficiency.Biochemistry. 2004 Apr 13;43(14):4143-9. doi: 10.1021/bi0363073.
6	Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management.Neurogenetics. 2010 Feb;11(1):1-12. doi: 10.1007/s10048-009-0196-y. Epub 2009 May 14.
7	The -tocopherol transfer protein is essential for vertebrate embryogenesis.PLoS One. 2012;7(10):e47402. doi: 10.1371/journal.pone.0047402. Epub 2012 Oct 15.