Ataxia with Vitamin E Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: ATX019 MIFTS: 31	Ataxia with Vitamin E Deficiency Categories: Rare diseases, Genetic diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Download Expand all tables

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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:

MalaCards categories:
Global: Rare diseases Genetic diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Symptoms, signs and abnormal clinical and laboratory findings, not elsewhere classified

Symptoms and signs involving the nervous and musculoskeletal systems

Other lack of coordination

Ataxia, unspecified

External Ids:

ICD10 ³³ R27.0

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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 visual impairment and nystagmus

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

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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
1	vitamin e, familial isolated deficiency of	11.9
2	atrioventricular block	11.5
3	third-degree atrioventricular block	11.5
4	dystonia 11, myoclonic	11.1
5	ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	11.1
6	spastic ataxia, charlevoix-saguenay type	11.1
7	anemia, sideroblastic, and spinocerebellar ataxia	11.1
8	harding ataxia	11.1
9	friedreich ataxia 1	10.1
10	dystonia	10.0
11	abetalipoproteinemia	9.8
12	cervical dystonia	9.8
13	cervicitis	9.8
14	peripheral nervous system disease	9.8
15	neuropathy	9.8

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

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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	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

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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

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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

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Anatomical Context for Ataxia with Vitamin E Deficiency

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

⁴¹

Eye, Skeletal Muscle, Brain

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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 May Present with Cervical Dystonia. ( 27274910 )	Becker A.E....Pearson T.S.	2016
2	Ataxia with vitamin E deficiency caused by a new compound heterozygous mutation. ( 27021565 )	Zelante G....Zappia M.	2016
3	Ataxia with vitamin e deficiency in norway. ( 25614784 )	Elkamil A....Aasly J.	2015
4	Structural consequences of mutations to the I+-tocopherol transfer protein associated with the neurodegenerative disease ataxia with vitamin E deficiency. ( 23713716 )	Bromley D....Daggett V.	2013
5	Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency. ( 24369383 )	Euch-Fayache G.E....Hentati F.	2013
6	Ataxia with vitamin E deficiency and abetalipoproteinemia. ( 21827896 )	Hentati F....Amouri R.	2012
7	Ataxia with vitamin E deficiency: update of molecular diagnosis. ( 20464573 )	Di Donato I....Federico A.	2010
8	Ataxia with vitamin E deficiency (AVED); an example of the contribution of research in molecular genetic to counselling in Morocco. ( 19038506 )	Bellayou H....Nadifi S.	2009
9	Ataxia with vitamin E deficiency with a mutation in a phospholipid transfer protein gene. ( 19252769 )	Kono S....Miyajima H.	2009
10	Ataxia with vitamin E deficiency in southeast Norway, case report. ( 19566498 )	Koht J....Tallaksen C.M.	2009
11	Ataxia with vitamin E deficiency associated with deafness. ( 19102053 )	Kara B....Kayserili H.	2008
12	Ataxia with vitamin E deficiency and severe dystonia: report of a case. ( 12907280 )	Roubertie A....Echenne B.	2003
13	Crystal structure of human alpha-tocopherol transfer protein bound to its ligand: implications for ataxia with vitamin E deficiency. ( 14657365 )	Min K.C....Hendrickson W.A.	2003
14	Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency. ( 11554913 )	Gabsi S....Hentati F.	2001
15	Ataxia with vitamin E deficiency: biochemical effects of malcompliance with vitamin E therapy. ( 11094124 )	Schuelke M....von Moers A.	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 )	Copp R.P....Kayden H.J.	1999
17	Ataxia with vitamin E deficiency: refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families. ( 7726167 )	Doerflinger N....Hentati F.	1995
18	Ataxia with Vitamin E Deficiency ( 20301419 )	Pagon R.A....Stephens K.	1993

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Genes for Ataxia with Vitamin E Deficiency

Genes related to Ataxia with Vitamin E Deficiency (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TTPA	Alpha Tocopherol Transfer Protein	Protein Coding	565.54	Pathogenic ⁶ Genetic Tests ²⁹ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Publications Summaries Variants (show sections)

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Variations for Ataxia with Vitamin E Deficiency

ClinVar genetic disease variations for Ataxia with Vitamin E Deficiency:

⁶

(show top 50) (show all 112)

#	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	Pathogenic	rs397515522	GRCh37	Chromosome 8, 63998406: 63998406
12	TTPA	NM_000370.3(TTPA): c.175C> T (p.Arg59Trp)	single nucleotide variant	Pathogenic	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	Pathogenic	rs143010236	GRCh37	Chromosome 8, 63985494: 63985494
16	TTPA	NM_000370.3(TTPA): c.358G> A (p.Ala120Thr)	single nucleotide variant	Pathogenic	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	Pathogenic	rs35916840	GRCh37	Chromosome 8, 63976767: 63976767
24	TTPA	NM_000370.3(TTPA): c.661C> T (p.Arg221Trp)	single nucleotide variant	Pathogenic	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.487delT (p.Trp163Glyfs)	deletion	Pathogenic/Likely pathogenic	rs397515378	GRCh37	Chromosome 8, 63978528: 63978528
28	TTPA	NM_000370.3(TTPA): c.487delT (p.Trp163Glyfs)	deletion	Pathogenic/Likely pathogenic	rs397515378	GRCh38	Chromosome 8, 63065969: 63065969
29	TTPA	NM_000370.3(TTPA): c.2T> C (p.Met1Thr)	single nucleotide variant	Pathogenic/Likely pathogenic	rs786204758	GRCh38	Chromosome 8, 63086020: 63086020
30	TTPA	NM_000370.3(TTPA): c.2T> C (p.Met1Thr)	single nucleotide variant	Pathogenic/Likely pathogenic	rs786204758	GRCh37	Chromosome 8, 63998579: 63998579
31	TTPA	NM_000370.3(TTPA): c.19delC (p.Gln7Serfs)	deletion	Pathogenic	rs760014795	GRCh37	Chromosome 8, 63998562: 63998562
32	TTPA	NM_000370.3(TTPA): c.19delC (p.Gln7Serfs)	deletion	Pathogenic	rs760014795	GRCh38	Chromosome 8, 63086003: 63086003
33	TTPA	NM_000370.3(TTPA): c.552+2T> A	single nucleotide variant	Pathogenic	rs886040964	GRCh37	Chromosome 8, 63978461: 63978461
34	TTPA	NM_000370.3(TTPA): c.552+2T> A	single nucleotide variant	Pathogenic	rs886040964	GRCh38	Chromosome 8, 63065902: 63065902
35	TTPA	NM_000370.3(TTPA): c.205-1G> T	single nucleotide variant	Pathogenic	rs886040963	GRCh38	Chromosome 8, 63073089: 63073089
36	TTPA	NM_000370.3(TTPA): c.205-1G> T	single nucleotide variant	Pathogenic	rs886040963	GRCh37	Chromosome 8, 63985648: 63985648
37	TTPA	NM_000370.3(TTPA): c.24C> G (p.Pro8=)	single nucleotide variant	Benign/Likely benign	rs140010311	GRCh37	Chromosome 8, 63998557: 63998557
38	TTPA	NM_000370.3(TTPA): c.24C> G (p.Pro8=)	single nucleotide variant	Benign/Likely benign	rs140010311	GRCh38	Chromosome 8, 63085998: 63085998
39	TTPA	NM_000370.3(TTPA): c.*1368C> G	single nucleotide variant	Uncertain significance	rs553853197	GRCh38	Chromosome 8, 63059884: 63059884
40	TTPA	NM_000370.3(TTPA): c.*1368C> G	single nucleotide variant	Uncertain significance	rs553853197	GRCh37	Chromosome 8, 63972443: 63972443
41	TTPA	NM_000370.3(TTPA): c.*1135T> C	single nucleotide variant	Uncertain significance	rs886063062	GRCh38	Chromosome 8, 63060117: 63060117
42	TTPA	NM_000370.3(TTPA): c.*1135T> C	single nucleotide variant	Uncertain significance	rs886063062	GRCh37	Chromosome 8, 63972676: 63972676
43	TTPA	NM_000370.3(TTPA): c.*806C> T	single nucleotide variant	Uncertain significance	rs752352118	GRCh38	Chromosome 8, 63060446: 63060446
44	TTPA	NM_000370.3(TTPA): c.*806C> T	single nucleotide variant	Uncertain significance	rs752352118	GRCh37	Chromosome 8, 63973005: 63973005
45	TTPA	NM_000370.3(TTPA): c.*364A> T	single nucleotide variant	Uncertain significance	rs559345463	GRCh38	Chromosome 8, 63060888: 63060888
46	TTPA	NM_000370.3(TTPA): c.*364A> T	single nucleotide variant	Uncertain significance	rs559345463	GRCh37	Chromosome 8, 63973447: 63973447
47	TTPA	NM_000370.3(TTPA): c.663+10A> G	single nucleotide variant	Uncertain significance	rs374903020	GRCh37	Chromosome 8, 63976755: 63976755
48	TTPA	NM_000370.3(TTPA): c.663+10A> G	single nucleotide variant	Uncertain significance	rs374903020	GRCh38	Chromosome 8, 63064196: 63064196
49	TTPA	NM_000370.3(TTPA): c.1481_1484delATAA	deletion	Uncertain significance	rs773557348	GRCh37	Chromosome 8, 63972327: 63972330
50	TTPA	NM_000370.3(TTPA): c.1481_1484delATAA	deletion	Uncertain significance	rs773557348	GRCh38	Chromosome 8, 63059768: 63059771

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Expression for Ataxia with Vitamin E Deficiency

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

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Pathways for Ataxia with Vitamin E Deficiency

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GO Terms for Ataxia with Vitamin E Deficiency

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