MCID: ATX019
MIFTS: 31

Ataxia with Vitamin E Deficiency

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Ataxia with Vitamin E Deficiency

MalaCards integrated aliases for Ataxia with Vitamin E Deficiency:

Name: Ataxia with Vitamin E Deficiency 23 49 24 28 69
Ataxia with Isolated Vitamin E Deficiency 23 49 24
Familial Isolated Vitamin E Deficiency 23 49 24
Friedreich-Like Ataxia 23 49 24
Aved 23 49 24
Friedreich Ataxia Phenotype with Selective Vitamin E Deficiency 24
Friedreich-Like Ataxia with Selective Vitamin E Deficiency 49
Familial Isolated Deficiency of Vitamin E 49
Isolated Vitamin E Deficiency 49
Five 24

Characteristics:

GeneReviews:

23
Penetrance Aved shows nearly complete penetrance in individuals who are homozygous or compound heterozygous for a ttpa pathogenic variant...

Classifications:



Summaries for Ataxia with Vitamin E Deficiency

NIH Rare Diseases : 49 Ataxia with vitamin E deficiency (AVED) is a progressive disease affecting motor control and movement. Symptoms of AVED include slurred speech (dysarthria), difficulty coordinating movements (ataxia), numbness in the hands and feet (peripheral neuropathy), and progressive leg weakness. Some affected individuals may experience vision loss due to damage to the back of the eye (retinitis pigmentosa). Symptoms typically begin during childhood or adolescence and worsen with age, resulting in the need for a wheelchair by early adulthood. AVED is caused by a mutation to the TTPA gene. When this gene is damaged, vitamin E cannot be distributed throughout the body. Vitamin E is important because it protects the cells of the neurological system (neurons) from dangerous molecules called free radicals. AVED is inherited in an autosomal recessive manner. Treatment for AVED includes vitamin E supplements, which will prevent AVED from developing if given before symptoms begin and may reverse some neurological symptoms if begun after AVED develops. Last updated: 7/10/2016

MalaCards based summary : Ataxia with Vitamin E Deficiency, also known as ataxia with isolated vitamin e deficiency, is related to vitamin e, familial isolated deficiency of and atrioventricular block, and has symptoms including visual impairment, nystagmus and abnormality of visual evoked potentials. An important gene associated with Ataxia with Vitamin E Deficiency is TTPA (Alpha Tocopherol Transfer Protein). Affiliated tissues include eye, skeletal muscle and brain.

Genetics Home Reference : 24 Ataxia with vitamin E deficiency is a disorder that impairs the body's ability to use vitamin E obtained from the diet. Vitamin E is an antioxidant, which means that it protects cells in the body from the damaging effects of unstable molecules called free radicals. A shortage (deficiency) of vitamin E can lead to neurological problems, such as difficulty coordinating movements (ataxia) and speech (dysarthria), loss of reflexes in the legs (lower limb areflexia), and a loss of sensation in the extremities (peripheral neuropathy). Some people with this condition have developed an eye disorder called retinitis pigmentosa that causes vision loss. Most people who have ataxia with vitamin E deficiency start to experience problems with movement between the ages of 5 and 15 years. The movement problems tend to worsen with age.

GeneReviews: NBK1241

Related Diseases for Ataxia with Vitamin E Deficiency

Diseases related to Ataxia with Vitamin E Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 vitamin e, familial isolated deficiency of 11.9
2 atrioventricular block 11.5
3 dystonia 11, myoclonic 11.1
4 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.1
5 spastic ataxia, charlevoix-saguenay type 11.1
6 anemia, sideroblastic, and spinocerebellar ataxia 11.1
7 harding ataxia 11.1
8 ataxia and polyneuropathy, adult-onset 10.5
9 friedreich ataxia 1 10.1
10 dystonia 10.0
11 abetalipoproteinemia 9.8
12 branchiootic syndrome 1 9.8
13 cervical dystonia 9.8
14 cervicitis 9.8
15 neuropathy 9.8

Graphical network of the top 20 diseases related to Ataxia with Vitamin E Deficiency:



Diseases related to Ataxia with Vitamin E Deficiency

Symptoms & Phenotypes for Ataxia with Vitamin E Deficiency

Human phenotypes related to Ataxia with Vitamin E Deficiency:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 occasional (7.5%) HP:0000505
2 nystagmus 31 frequent (33%) HP:0000639
3 abnormality of visual evoked potentials 31 occasional (7.5%) HP:0000649
4 nyctalopia 31 frequent (33%) HP:0000662
5 sensory neuropathy 31 frequent (33%) HP:0000763
6 diabetes mellitus 31 occasional (7.5%) HP:0000819
7 dysarthria 31 frequent (33%) HP:0001260
8 mental deterioration 31 occasional (7.5%) HP:0001268
9 hypertonia 31 occasional (7.5%) HP:0001276
10 areflexia 31 hallmark (90%) HP:0001284
11 gait disturbance 31 frequent (33%) HP:0001288
12 dysmetria 31 frequent (33%) HP:0001310
13 muscle weakness 31 hallmark (90%) HP:0001324
14 dystonia 31 occasional (7.5%) HP:0001332
15 tremor 31 occasional (7.5%) HP:0001337
16 hypertrophic cardiomyopathy 31 occasional (7.5%) HP:0001639
17 pes cavus 31 frequent (33%) HP:0001761
18 dysdiadochokinesis 31 frequent (33%) HP:0002075
19 developmental regression 31 occasional (7.5%) HP:0002376
20 scoliosis 31 frequent (33%) HP:0002650
21 skeletal muscle atrophy 31 occasional (7.5%) HP:0003202
22 hemiplegia/hemiparesis 31 occasional (7.5%) HP:0004374
23 abnormal pyramidal signs 31 hallmark (90%) HP:0007256
24 abnormality of retinal pigmentation 31 occasional (7.5%) HP:0007703
25 arrhythmia 31 occasional (7.5%) HP:0011675

UMLS symptoms related to Ataxia with Vitamin E Deficiency:


ataxia

Drugs & Therapeutics for Ataxia with Vitamin E Deficiency

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Ataxia with Vitamin E Deficiency

Genetic Tests for Ataxia with Vitamin E Deficiency

Genetic tests related to Ataxia with Vitamin E Deficiency:

# Genetic test Affiliating Genes
1 Ataxia with Vitamin E Deficiency 28 TTPA

Anatomical Context for Ataxia with Vitamin E Deficiency

MalaCards organs/tissues related to Ataxia with Vitamin E Deficiency:

38
Eye, Skeletal Muscle, Brain

Publications for Ataxia with Vitamin E Deficiency

Articles related to Ataxia with Vitamin E Deficiency:

(show all 18)
# Title Authors Year
1
Ataxia with vitamin E deficiency caused by a new compound heterozygous mutation. ( 27021565 )
2016
2
Ataxia with Vitamin E Deficiency May Present with Cervical Dystonia. ( 27274910 )
2016
3
Ataxia with vitamin e deficiency in norway. ( 25614784 )
2015
4
Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency. ( 24369383 )
2013
5
Structural consequences of mutations to the I+-tocopherol transfer protein associated with the neurodegenerative disease ataxia with vitamin E deficiency. ( 23713716 )
2013
6
Ataxia with vitamin E deficiency and abetalipoproteinemia. ( 21827896 )
2012
7
Ataxia with vitamin E deficiency: update of molecular diagnosis. ( 20464573 )
2010
8
Ataxia with vitamin E deficiency (AVED); an example of the contribution of research in molecular genetic to counselling in Morocco. ( 19038506 )
2009
9
Ataxia with vitamin E deficiency in southeast Norway, case report. ( 19566498 )
2009
10
Ataxia with vitamin E deficiency with a mutation in a phospholipid transfer protein gene. ( 19252769 )
2009
11
Ataxia with vitamin E deficiency associated with deafness. ( 19102053 )
2008
12
Ataxia with vitamin E deficiency and severe dystonia: report of a case. ( 12907280 )
2003
13
Crystal structure of human alpha-tocopherol transfer protein bound to its ligand: implications for ataxia with vitamin E deficiency. ( 14657365 )
2003
14
Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency. ( 11554913 )
2001
15
Ataxia with vitamin E deficiency: biochemical effects of malcompliance with vitamin E therapy. ( 11094124 )
2000
16
Localization of alpha-tocopherol transfer protein in the brains of patients with ataxia with vitamin E deficiency and other oxidative stress related neurodegenerative disorders. ( 10082886 )
1999
17
Ataxia with vitamin E deficiency: refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families. ( 7726167 )
1995
18
Ataxia with Vitamin E Deficiency ( 20301419 )
1993

Variations for Ataxia with Vitamin E Deficiency

ClinVar genetic disease variations for Ataxia with Vitamin E Deficiency:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 TTPA NM_000370.3(TTPA): c.744delA (p.Glu249Asnfs) deletion Pathogenic rs397515377 GRCh37 Chromosome 8, 63973904: 63973904
2 TTPA NM_000370.3(TTPA): c.303T> G (p.His101Gln) single nucleotide variant Pathogenic rs121917849 GRCh37 Chromosome 8, 63985549: 63985549
3 TTPA NM_000370.3(TTPA): c.513_514insTT (p.Thr172Leufs) insertion Pathogenic rs397515379 GRCh37 Chromosome 8, 63978501: 63978502
4 TTPA NM_000370.3(TTPA): c.575G> A (p.Arg192His) single nucleotide variant Pathogenic rs121917850 GRCh37 Chromosome 8, 63976853: 63976853
5 TTPA NM_000370.3(TTPA): c.400C> T (p.Arg134Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121917851 GRCh37 Chromosome 8, 63978615: 63978615
6 TTPA NM_000370.3(TTPA): c.175C> T (p.Arg59Trp) single nucleotide variant Pathogenic rs397515522 GRCh37 Chromosome 8, 63998406: 63998406
7 TTPA NM_000370.3(TTPA): c.191A> G (p.Asp64Gly) single nucleotide variant Pathogenic rs397515523 GRCh37 Chromosome 8, 63998390: 63998390
8 TTPA NM_000370.3(TTPA): c.358G> A (p.Ala120Thr) single nucleotide variant Pathogenic rs143010236 GRCh37 Chromosome 8, 63985494: 63985494
9 TTPA NM_000370.3(TTPA): c.421G> A (p.Glu141Lys) single nucleotide variant Pathogenic rs397515524 GRCh37 Chromosome 8, 63978594: 63978594
10 TTPA NM_000370.3(TTPA): c.530_531delAGinsGTAAGT (p.Lys177Serfs) indel Pathogenic GRCh38 Chromosome 8, 63065925: 63065926
11 TTPA NM_000370.3(TTPA): c.548T> C (p.Leu183Pro) single nucleotide variant Pathogenic rs397515525 GRCh37 Chromosome 8, 63978467: 63978467
12 TTPA NM_000370.3(TTPA): c.661C> T (p.Arg221Trp) single nucleotide variant Pathogenic rs35916840 GRCh37 Chromosome 8, 63976767: 63976767
13 TTPA NM_000370.3(TTPA): c.736G> C (p.Gly246Arg) single nucleotide variant Pathogenic rs397515526 GRCh37 Chromosome 8, 63973912: 63973912
14 TTPA NM_000370.3(TTPA): c.487delT (p.Trp163Glyfs) deletion Pathogenic/Likely pathogenic rs397515378 GRCh37 Chromosome 8, 63978528: 63978528
15 TTPA NM_000370.3(TTPA): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic/Likely pathogenic rs786204758 GRCh38 Chromosome 8, 63086020: 63086020
16 TTPA NM_000370.3(TTPA): c.19delC (p.Gln7Serfs) deletion Pathogenic rs760014795 GRCh38 Chromosome 8, 63086003: 63086003
17 TTPA NM_000370.3(TTPA): c.552+2T> A single nucleotide variant Pathogenic rs886040964 GRCh37 Chromosome 8, 63978461: 63978461
18 TTPA NM_000370.3(TTPA): c.205-1G> T single nucleotide variant Pathogenic rs886040963 GRCh38 Chromosome 8, 63073089: 63073089

Expression for Ataxia with Vitamin E Deficiency

Search GEO for disease gene expression data for Ataxia with Vitamin E Deficiency.

Pathways for Ataxia with Vitamin E Deficiency

GO Terms for Ataxia with Vitamin E Deficiency

Sources for Ataxia with Vitamin E Deficiency

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11 DGIdb
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65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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