MCID: ATX019
MIFTS: 32

Ataxia with Vitamin E Deficiency

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ataxia with Vitamin E Deficiency

MalaCards integrated aliases for Ataxia with Vitamin E Deficiency:

Name: Ataxia with Vitamin E Deficiency 25 54 26 30 6 74
Ataxia with Isolated Vitamin E Deficiency 25 54 26
Familial Isolated Vitamin E Deficiency 25 54 26
Friedreich-Like Ataxia 25 54 26
Aved 25 54 26
Friedreich Ataxia Phenotype with Selective Vitamin E Deficiency 26
Friedreich-Like Ataxia with Selective Vitamin E Deficiency 54
Familial Isolated Deficiency of Vitamin E 54
Ataxia, with Vitamin E Deficiency 41
Isolated Vitamin E Deficiency 54
Five 26

Characteristics:

GeneReviews:

25
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 : 54 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.

MalaCards based summary : Ataxia with Vitamin E Deficiency, also known as ataxia with isolated vitamin e deficiency, is related to atrioventricular block and third-degree atrioventricular block, and has symptoms including ataxia An important gene associated with Ataxia with Vitamin E Deficiency is TTPA (Alpha Tocopherol Transfer Protein). Affiliated tissues include eye, heart and brain, and related phenotypes are muscle weakness and abnormal pyramidal sign

Genetics Home Reference : 26 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 top 50) (show all 178)
# Related Disease Score Top Affiliating Genes
1 atrioventricular block 12.0
2 third-degree atrioventricular block 11.8
3 vitamin e, familial isolated deficiency of 11.7
4 aortic valve disease 2 11.6
5 atrial septal defect 7 with or without atrioventricular conduction defects 11.6
6 dystonia 11, myoclonic 11.3
7 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.3
8 spastic ataxia, charlevoix-saguenay type 11.3
9 anemia, sideroblastic, and spinocerebellar ataxia 11.3
10 harding ataxia 11.3
11 right atrial isomerism 11.3
12 second-degree atrioventricular block 11.3
13 atrial heart septal defect 7 11.1
14 first-degree atrioventricular block 11.0
15 progressive familial heart block 11.0
16 his bundle tachycardia 11.0
17 atrial fibrillation 10.3
18 progressive familial heart block, type ia 10.3
19 syncope 10.3
20 ataxia and polyneuropathy, adult-onset 10.3
21 sick sinus syndrome 10.3
22 spondyloenchondrodysplasia 10.3
23 atrial standstill 1 10.2
24 myocardial infarction 10.2
25 wolff-parkinson-white syndrome 10.2
26 rere-related disorders 10.2
27 dystonia 10.1
28 progressive familial heart block, type ib 10.1
29 mitral valve insufficiency 10.1
30 right bundle branch block 10.1
31 long qt syndrome 10.1
32 sinoatrial node disease 10.1
33 macular degeneration, age-related, 1 10.0
34 ventricular fibrillation, paroxysmal familial, 1 10.0
35 congestive heart failure 10.0
36 left bundle branch hemiblock 10.0
37 ischemia 10.0
38 abetalipoproteinemia 10.0
39 cervical dystonia 10.0
40 peripheral nervous system disease 10.0
41 neuropathy 10.0
42 cardiac conduction defect 9.9
43 hypertriglyceridemia, familial 9.9
44 tetralogy of fallot 9.9
45 lymphoma 9.9
46 heart disease 9.9
47 transposition of the great arteries 9.9
48 aceruloplasminemia 9.9
49 charcot-marie-tooth hereditary neuropathy 9.9
50 sarcoidosis 1 9.9

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:

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

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 30 TTPA

Anatomical Context for Ataxia with Vitamin E Deficiency

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

42
Eye, Heart, Brain, Skeletal Muscle

Publications for Ataxia with Vitamin E Deficiency

Articles related to Ataxia with Vitamin E Deficiency:

(show all 36)
# 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
A Case of Ataxia with Isolated Vitamin E Deficiency Initially Diagnosed as Friedreich's Ataxia. ( 26989534 )
2016
4
Ataxia with vitamin e deficiency in norway. ( 25614784 )
2015
5
Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency. ( 24369383 )
2014
6
Retinitis pigmentosa and macular degeneration in a patient with ataxia with isolated vitamin E deficiency with a novel c.717 del C mutation in the TTPA gene. ( 25066259 )
2014
7
EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. ( 24418350 )
2014
8
Structural consequences of mutations to the α-tocopherol transfer protein associated with the neurodegenerative disease ataxia with vitamin E deficiency. ( 23713716 )
2013
9
Ataxia with vitamin E deficiency and abetalipoproteinemia. ( 21827896 )
2012
10
Ataxia with vitamin E deficiency: update of molecular diagnosis. ( 20464573 )
2010
11
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. ( 20050888 )
2010
12
Ataxia with vitamin E deficiency (AVED); an example of the contribution of research in molecular genetic to counselling in Morocco. ( 19038506 )
2009
13
Ataxia with vitamin E deficiency with a mutation in a phospholipid transfer protein gene. ( 19252769 )
2009
14
Ataxia with vitamin E deficiency in southeast Norway, case report. ( 19566498 )
2009
15
Ataxia with vitamin E deficiency associated with deafness. ( 19102053 )
2008
16
A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency. ( 18458655 )
2008
17
First case of ataxia with isolated vitamin E deficiency in the Netherlands. ( 17049453 )
2007
18
Efficacious vitamin E treatment in a child with ataxia with isolated vitamin E deficiency. ( 16491382 )
2006
19
Ataxia with isolated vitamin E deficiency: a treatable neurologic disorder resembling Friedreich's ataxia. ( 15300458 )
2004
20
Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. ( 15300460 )
2004
21
Ataxia with vitamin E deficiency and severe dystonia: report of a case. ( 12907280 )
2003
22
Crystal structure of human alpha-tocopherol transfer protein bound to its ligand: implications for ataxia with vitamin E deficiency. ( 14657365 )
2003
23
Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency. ( 11554913 )
2001
24
Ataxia with isolated vitamin E deficiency: case report and review of the literature. ( 11568526 )
2001
25
Ataxia with vitamin E deficiency: biochemical effects of malcompliance with vitamin E therapy. ( 11094124 )
2000
26
Ataxia with isolated vitamin E deficiency: a clinical, biochemical and genetic diagnosis. ( 11036814 )
2000
27
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
28
Ataxia with isolated vitamin E deficiency: a Japanese family carrying a novel mutation in the alpha-tocopherol transfer protein gene. ( 10360777 )
1999
29
Familial ataxia with isolated vitamin E deficiency not due to mutation of alpha-TTP. ( 10552255 )
1999
30
Ataxia with isolated vitamin E deficiency and retinitis pigmentosa. ( 9485073 )
1998
31
Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. ( 9463307 )
1998
32
Ataxia with isolated vitamin E deficiency presenting as mutation negative Friedreich's ataxia. ( 9527151 )
1998
33
Friedreich's ataxia with isolated vitamin E deficiency: a neuropathological study of a Tunisian patient. ( 9194904 )
1997
34
Ataxia with isolated vitamin E deficiency in four siblings. ( 8972536 )
1996
35
Ataxia with vitamin E deficiency: refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families. ( 7726167 )
1995
36
Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. ( 7719340 )
1995

Variations for Ataxia with Vitamin E Deficiency

ClinVar genetic disease variations for Ataxia with Vitamin E Deficiency:

6 (show top 50) (show all 134)
# 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.744delA (p.Glu249Asnfs) deletion Pathogenic rs397515377 GRCh38 Chromosome 8, 63061345: 63061345
3 TTPA NM_000370.3(TTPA): c.303T> G (p.His101Gln) single nucleotide variant Pathogenic rs121917849 GRCh37 Chromosome 8, 63985549: 63985549
4 TTPA NM_000370.3(TTPA): c.303T> G (p.His101Gln) single nucleotide variant Pathogenic rs121917849 GRCh38 Chromosome 8, 63072990: 63072990
5 TTPA NM_000370.3(TTPA): c.513_514insTT (p.Thr172Leufs) insertion Pathogenic rs397515379 GRCh37 Chromosome 8, 63978501: 63978502
6 TTPA NM_000370.3(TTPA): c.513_514insTT (p.Thr172Leufs) insertion Pathogenic rs397515379 GRCh38 Chromosome 8, 63065942: 63065943
7 TTPA NM_000370.3(TTPA): c.575G> A (p.Arg192His) single nucleotide variant Pathogenic rs121917850 GRCh37 Chromosome 8, 63976853: 63976853
8 TTPA NM_000370.3(TTPA): c.575G> A (p.Arg192His) single nucleotide variant Pathogenic rs121917850 GRCh38 Chromosome 8, 63064294: 63064294
9 TTPA NM_000370.3(TTPA): c.400C> T (p.Arg134Ter) single nucleotide variant Likely pathogenic rs121917851 GRCh37 Chromosome 8, 63978615: 63978615
10 TTPA NM_000370.3(TTPA): c.400C> T (p.Arg134Ter) single nucleotide variant Likely pathogenic rs121917851 GRCh38 Chromosome 8, 63066056: 63066056
11 TTPA NM_000370.3(TTPA): c.175C> T (p.Arg59Trp) single nucleotide variant Uncertain significance rs397515522 GRCh37 Chromosome 8, 63998406: 63998406
12 TTPA NM_000370.3(TTPA): c.175C> T (p.Arg59Trp) single nucleotide variant Uncertain significance rs397515522 GRCh38 Chromosome 8, 63085847: 63085847
13 TTPA NM_000370.3(TTPA): c.191A> G (p.Asp64Gly) single nucleotide variant Pathogenic rs397515523 GRCh37 Chromosome 8, 63998390: 63998390
14 TTPA NM_000370.3(TTPA): c.191A> G (p.Asp64Gly) single nucleotide variant Pathogenic rs397515523 GRCh38 Chromosome 8, 63085831: 63085831
15 TTPA NM_000370.3(TTPA): c.358G> A (p.Ala120Thr) single nucleotide variant Uncertain significance rs143010236 GRCh37 Chromosome 8, 63985494: 63985494
16 TTPA NM_000370.3(TTPA): c.358G> A (p.Ala120Thr) single nucleotide variant Uncertain significance rs143010236 GRCh38 Chromosome 8, 63072935: 63072935
17 TTPA NM_000370.3(TTPA): c.421G> A (p.Glu141Lys) single nucleotide variant Pathogenic rs397515524 GRCh37 Chromosome 8, 63978594: 63978594
18 TTPA NM_000370.3(TTPA): c.421G> A (p.Glu141Lys) single nucleotide variant Pathogenic rs397515524 GRCh38 Chromosome 8, 63066035: 63066035
19 TTPA NM_000370.3(TTPA): c.530_531delAGinsGTAAGT (p.Lys177Serfs) indel Pathogenic rs1554605631 GRCh38 Chromosome 8, 63065925: 63065926
20 TTPA NM_000370.3(TTPA): c.530_531delAGinsGTAAGT (p.Lys177Serfs) indel Pathogenic rs1554605631 GRCh37 Chromosome 8, 63978484: 63978485
21 TTPA NM_000370.3(TTPA): c.548T> C (p.Leu183Pro) single nucleotide variant Pathogenic rs397515525 GRCh37 Chromosome 8, 63978467: 63978467
22 TTPA NM_000370.3(TTPA): c.548T> C (p.Leu183Pro) single nucleotide variant Pathogenic rs397515525 GRCh38 Chromosome 8, 63065908: 63065908
23 TTPA NM_000370.3(TTPA): c.661C> T (p.Arg221Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs35916840 GRCh37 Chromosome 8, 63976767: 63976767
24 TTPA NM_000370.3(TTPA): c.661C> T (p.Arg221Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs35916840 GRCh38 Chromosome 8, 63064208: 63064208
25 TTPA NM_000370.3(TTPA): c.736G> C (p.Gly246Arg) single nucleotide variant Pathogenic rs397515526 GRCh37 Chromosome 8, 63973912: 63973912
26 TTPA NM_000370.3(TTPA): c.736G> C (p.Gly246Arg) single nucleotide variant Pathogenic rs397515526 GRCh38 Chromosome 8, 63061353: 63061353
27 TTPA NM_000370.3(TTPA): c.359-3delT deletion Benign rs398123340 GRCh37 Chromosome 8, 63978659: 63978659
28 TTPA NM_000370.3(TTPA): c.359-3delT deletion Benign rs398123340 GRCh38 Chromosome 8, 63066100: 63066100
29 TTPA NM_000370.3(TTPA): c.487delT (p.Trp163Glyfs) deletion Pathogenic/Likely pathogenic rs397515378 GRCh37 Chromosome 8, 63978528: 63978528
30 TTPA NM_000370.3(TTPA): c.487delT (p.Trp163Glyfs) deletion Pathogenic/Likely pathogenic rs397515378 GRCh38 Chromosome 8, 63065969: 63065969
31 TTPA NM_000370.3(TTPA): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic/Likely pathogenic rs786204758 GRCh38 Chromosome 8, 63086020: 63086020
32 TTPA NM_000370.3(TTPA): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic/Likely pathogenic rs786204758 GRCh37 Chromosome 8, 63998579: 63998579
33 TTPA NM_000370.3(TTPA): c.19delC (p.Gln7Serfs) deletion Pathogenic rs760014795 GRCh37 Chromosome 8, 63998562: 63998562
34 TTPA NM_000370.3(TTPA): c.19delC (p.Gln7Serfs) deletion Pathogenic rs760014795 GRCh38 Chromosome 8, 63086003: 63086003
35 TTPA NM_000370.3(TTPA): c.552+2T> A single nucleotide variant Pathogenic rs886040964 GRCh37 Chromosome 8, 63978461: 63978461
36 TTPA NM_000370.3(TTPA): c.552+2T> A single nucleotide variant Pathogenic rs886040964 GRCh38 Chromosome 8, 63065902: 63065902
37 TTPA NM_000370.3(TTPA): c.205-1G> T single nucleotide variant Pathogenic rs886040963 GRCh38 Chromosome 8, 63073089: 63073089
38 TTPA NM_000370.3(TTPA): c.205-1G> T single nucleotide variant Pathogenic rs886040963 GRCh37 Chromosome 8, 63985648: 63985648
39 TTPA NM_000370.3(TTPA): c.24C> G (p.Pro8=) single nucleotide variant Benign/Likely benign rs140010311 GRCh37 Chromosome 8, 63998557: 63998557
40 TTPA NM_000370.3(TTPA): c.24C> G (p.Pro8=) single nucleotide variant Benign/Likely benign rs140010311 GRCh38 Chromosome 8, 63085998: 63085998
41 TTPA NM_000370.3(TTPA): c.*1368C> G single nucleotide variant Uncertain significance rs553853197 GRCh38 Chromosome 8, 63059884: 63059884
42 TTPA NM_000370.3(TTPA): c.*1368C> G single nucleotide variant Uncertain significance rs553853197 GRCh37 Chromosome 8, 63972443: 63972443
43 TTPA NM_000370.3(TTPA): c.*1135T> C single nucleotide variant Uncertain significance rs886063062 GRCh38 Chromosome 8, 63060117: 63060117
44 TTPA NM_000370.3(TTPA): c.*1135T> C single nucleotide variant Uncertain significance rs886063062 GRCh37 Chromosome 8, 63972676: 63972676
45 TTPA NM_000370.3(TTPA): c.*806C> T single nucleotide variant Uncertain significance rs752352118 GRCh38 Chromosome 8, 63060446: 63060446
46 TTPA NM_000370.3(TTPA): c.*806C> T single nucleotide variant Uncertain significance rs752352118 GRCh37 Chromosome 8, 63973005: 63973005
47 TTPA NM_000370.3(TTPA): c.*364A> T single nucleotide variant Uncertain significance rs559345463 GRCh38 Chromosome 8, 63060888: 63060888
48 TTPA NM_000370.3(TTPA): c.*364A> T single nucleotide variant Uncertain significance rs559345463 GRCh37 Chromosome 8, 63973447: 63973447
49 TTPA NM_000370.3(TTPA): c.663+10A> G single nucleotide variant Uncertain significance rs374903020 GRCh37 Chromosome 8, 63976755: 63976755
50 TTPA NM_000370.3(TTPA): c.663+10A> G single nucleotide variant Uncertain significance rs374903020 GRCh38 Chromosome 8, 63064196: 63064196

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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