AVED
MCID: ATX019
MIFTS: 34

Ataxia with Vitamin E Deficiency (AVED)

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 24 53 25 29 6 73
Ataxia with Isolated Vitamin E Deficiency 24 53 25
Familial Isolated Vitamin E Deficiency 24 53 25
Friedreich-Like Ataxia 24 53 25
Aved 24 53 25
Friedreich Ataxia Phenotype with Selective Vitamin E Deficiency 25
Friedreich-Like Ataxia with Selective Vitamin E Deficiency 53
Familial Isolated Deficiency of Vitamin E 53
Ataxia, with Vitamin E Deficiency 40
Isolated Vitamin E Deficiency 53
Five 25

Characteristics:

GeneReviews:

24
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 : 53 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 vitamin e, familial isolated deficiency of and 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, skeletal muscle and brain, and related phenotypes are nystagmus and diabetes mellitus

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 top 50) (show all 144)
# Related Disease Score Top Affiliating Genes
1 vitamin e, familial isolated deficiency of 12.1
2 atrioventricular block 12.0
3 third-degree atrioventricular block 11.6
4 aortic valve disease 2 11.6
5 atrial septal defect 7 with or without atrioventricular conduction defects 11.3
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 11.2
12 second-degree atrioventricular block 11.2
13 atrial heart septal defect 7 11.0
14 cardiac arrhythmia with increased serum creatine kinase 11.0
15 first-degree atrioventricular block 11.0
16 progressive familial heart block 11.0
17 his bundle tachycardia 11.0
18 atrial fibrillation 10.3
19 progressive familial heart block, type ia 10.3
20 syncope 10.3
21 sick sinus syndrome 10.2
22 myocardial infarction 10.2
23 dystonia 10.1
24 atrial standstill 1 10.1
25 progressive familial heart block, type ib 10.1
26 right bundle branch block 10.1
27 long qt syndrome 10.1
28 leber congenital amaurosis 4 10.1
29 retinitis 10.1
30 wolff-parkinson-white syndrome 10.1
31 sinoatrial node disease 10.1
32 macular degeneration, age-related, 1 10.0
33 left bundle branch hemiblock 10.0
34 abetalipoproteinemia 10.0
35 cervical dystonia 10.0
36 peripheral nervous system disease 10.0
37 neuropathy 10.0
38 heart disease 9.9
39 mitral valve insufficiency 9.9
40 ischemia 9.9
41 transposition of the great arteries 9.9
42 aceruloplasminemia 9.9
43 charcot-marie-tooth hereditary neuropathy 9.9
44 cardiac conduction defect 9.9
45 tetralogy of fallot 9.9
46 tricuspid atresia 9.9
47 atrioventricular septal defect 9.9
48 acute myocardial infarction 9.9
49 congestive heart failure 9.9
50 dilated cardiomyopathy 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:

32 (show all 25)
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 frequent (33%) HP:0000639
2 diabetes mellitus 32 occasional (7.5%) HP:0000819
3 dysarthria 32 frequent (33%) HP:0001260
4 gait disturbance 32 frequent (33%) HP:0001288
5 muscle weakness 32 hallmark (90%) HP:0001324
6 tremor 32 occasional (7.5%) HP:0001337
7 developmental regression 32 occasional (7.5%) HP:0002376
8 scoliosis 32 frequent (33%) HP:0002650
9 visual impairment 32 occasional (7.5%) HP:0000505
10 abnormality of retinal pigmentation 32 occasional (7.5%) HP:0007703
11 abnormality of visual evoked potentials 32 occasional (7.5%) HP:0000649
12 hypertonia 32 occasional (7.5%) HP:0001276
13 hypertrophic cardiomyopathy 32 occasional (7.5%) HP:0001639
14 arrhythmia 32 occasional (7.5%) HP:0011675
15 skeletal muscle atrophy 32 occasional (7.5%) HP:0003202
16 sensory neuropathy 32 frequent (33%) HP:0000763
17 hemiplegia/hemiparesis 32 occasional (7.5%) HP:0004374
18 dysmetria 32 frequent (33%) HP:0001310
19 pes cavus 32 frequent (33%) HP:0001761
20 dystonia 32 occasional (7.5%) HP:0001332
21 nyctalopia 32 frequent (33%) HP:0000662
22 areflexia 32 hallmark (90%) HP:0001284
23 mental deterioration 32 occasional (7.5%) HP:0001268
24 dysdiadochokinesis 32 frequent (33%) HP:0002075
25 abnormal pyramidal sign 32 hallmark (90%) HP:0007256

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 29 TTPA

Anatomical Context for Ataxia with Vitamin E Deficiency

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

41
Eye, Skeletal Muscle, Brain, Heart, B Cells

Publications for Ataxia with Vitamin E Deficiency

Articles related to Ataxia with Vitamin E Deficiency:

(show all 19)
# 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
Structural consequences of mutations to the I+-tocopherol transfer protein associated with the neurodegenerative disease ataxia with vitamin E deficiency. ( 23713716 )
2013
5
Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency. ( 24369383 )
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 with a mutation in a phospholipid transfer protein gene. ( 19252769 )
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 isolated vitamin E deficiency: a treatable neurologic disorder resembling Friedreich's ataxia. ( 15300458 )
2004
13
Ataxia with vitamin E deficiency and severe dystonia: report of a case. ( 12907280 )
2003
14
Crystal structure of human alpha-tocopherol transfer protein bound to its ligand: implications for ataxia with vitamin E deficiency. ( 14657365 )
2003
15
Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency. ( 11554913 )
2001
16
Ataxia with vitamin E deficiency: biochemical effects of malcompliance with vitamin E therapy. ( 11094124 )
2000
17
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
18
Ataxia with vitamin E deficiency: refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families. ( 7726167 )
1995
19
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 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 GRCh38 Chromosome 8, 63065925: 63065926
20 TTPA NM_000370.3(TTPA): c.530_531delAGinsGTAAGT (p.Lys177Serfs) indel Pathogenic 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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17 ExPASy
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