MCID: ATX019
MIFTS: 33

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 50 24 25 29 69
Ataxia with Isolated Vitamin E Deficiency 23 50 24 25
Familial Isolated Vitamin E Deficiency 23 50 24 25
Friedreich-Like Ataxia 23 50 24 25
Aved 23 50 24 25
Friedreich Ataxia Phenotype with Selective Vitamin E Deficiency 25
Friedreich-Like Ataxia with Selective Vitamin E Deficiency 50
Familial Isolated Deficiency of Vitamin E 50
Isolated Vitamin E Deficiency 50
Five 25

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 : 50 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 atrial septal defect 7, with or without av conduction defects 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 : 25 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 18)
id Related Disease Score Top Affiliating Genes
1 atrial septal defect 7, with or without av conduction defects 11.9
2 atrioventricular block 11.4
3 third-degree atrioventricular block 11.4
4 ataxia with isolated vitamin e deficiency 11.3
5 aortic valve disease 2 11.0
6 dystonia-11, myoclonic 11.0
7 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.0
8 x-linked sideroblastic anemia with ataxia 11.0
9 arsacs 11.0
10 harding ataxia 11.0
11 right atrial isomerism 11.0
12 ataxia 10.4
13 friedreich ataxia 10.0
14 dystonia 9.9
15 abetalipoproteinemia 9.8
16 cervical dystonia 9.8
17 cervicitis 9.8
18 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:

32 (show all 25)
id Description HPO Frequency HPO Source Accession
1 visual impairment 32 occasional (7.5%) HP:0000505
2 nystagmus 32 frequent (33%) HP:0000639
3 abnormality of visual evoked potentials 32 occasional (7.5%) HP:0000649
4 nyctalopia 32 frequent (33%) HP:0000662
5 sensory neuropathy 32 frequent (33%) HP:0000763
6 diabetes mellitus 32 occasional (7.5%) HP:0000819
7 dysarthria 32 frequent (33%) HP:0001260
8 mental deterioration 32 occasional (7.5%) HP:0001268
9 hypertonia 32 occasional (7.5%) HP:0001276
10 areflexia 32 hallmark (90%) HP:0001284
11 gait disturbance 32 frequent (33%) HP:0001288
12 dysmetria 32 frequent (33%) HP:0001310
13 muscle weakness 32 hallmark (90%) HP:0001324
14 dystonia 32 occasional (7.5%) HP:0001332
15 tremor 32 occasional (7.5%) HP:0001337
16 hypertrophic cardiomyopathy 32 occasional (7.5%) HP:0001639
17 pes cavus 32 frequent (33%) HP:0001761
18 dysdiadochokinesis 32 frequent (33%) HP:0002075
19 developmental regression 32 occasional (7.5%) HP:0002376
20 scoliosis 32 frequent (33%) HP:0002650
21 skeletal muscle atrophy 32 occasional (7.5%) HP:0003202
22 hemiplegia/hemiparesis 32 occasional (7.5%) HP:0004374
23 abnormal pyramidal signs 32 hallmark (90%) HP:0007256
24 abnormality of retinal pigmentation 32 occasional (7.5%) HP:0007703
25 arrhythmia 32 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:


id 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:

id Genetic test Affiliating Genes
1 Ataxia with Vitamin E Deficiency 29 24 TTPA

Anatomical Context for Ataxia with Vitamin E Deficiency

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

39
Eye, Skeletal Muscle, Brain

Publications for Ataxia with Vitamin E Deficiency

Articles related to Ataxia with Vitamin E Deficiency:

(show all 18)
id Title Authors Year
1
Ataxia with Vitamin E Deficiency May Present with Cervical Dystonia. ( 27274910 )
2016
2
Ataxia with vitamin E deficiency caused by a new compound heterozygous mutation. ( 27021565 )
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 with a mutation in a phospholipid transfer protein gene. ( 19252769 )
2009
9
Ataxia with vitamin E deficiency (AVED); an example of the contribution of research in molecular genetic to counselling in Morocco. ( 19038506 )
2009
10
Ataxia with vitamin E deficiency in southeast Norway, case report. ( 19566498 )
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 17)
id 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_000370.2: c.530-531AG> GTAAGT undetermined variant Pathogenic
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.19delC (p.Gln7Serfs) deletion Pathogenic rs760014795 GRCh38 Chromosome 8, 63086003: 63086003
16 TTPA NM_000370.3(TTPA): c.552+2T> A single nucleotide variant Pathogenic rs886040964 GRCh37 Chromosome 8, 63978461: 63978461
17 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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30 HGMD
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60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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