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

AVED MCID: ATX019 MIFTS: 61	Ataxia with Vitamin E Deficiency (AVED) Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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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 ⁵⁷ ²⁴ ¹⁹ ⁴² ⁵⁸ ⁷³ ⁴³ ⁷¹

Ataxia with Isolated Vitamin E Deficiency ⁵⁷ ¹¹ ²⁴ ¹⁹ ⁴² ⁵⁸ ¹²

Familial Isolated Vitamin E Deficiency ¹¹ ²⁴ ¹⁹ ⁴² ⁵⁸ ⁷³ ⁷⁵

Aved ⁵⁷ ²⁴ ¹⁹ ⁴² ⁵⁸ ⁷³

Familial Isolated Deficiency of Vitamin E ¹¹ ¹⁹ ²⁸ ⁵ ¹⁴

Friedreich-Like Ataxia ⁵⁷ ²⁴ ¹⁹ ⁴² ⁵⁸

Isolated Vitamin E Deficiency ¹⁹ ⁵⁸

Friedreich Ataxia Phenotype with Selective Vitamin E Deficiency ⁴²

Ataxia, Friedreich-Like, with Selective Vitamin E Deficiency ⁵⁷

Friedreich-Like Ataxia with Selective Vitamin E Deficiency ¹⁹

Ataxia Friedreich-Like with Selective Vitamin E Deficiency ⁷³

Vitamin E Familial Isolated, Deficiency of ⁷⁵

Vitamin E Deficiency, Familial Isolated ⁵⁷

Five ⁴²

Ved ⁵⁷

Characteristics:

Inheritance:

Autosomal recessive ⁵⁸ ⁵⁷

Prevelance:

1-9/1000000 (Europe) ⁵⁸

Age Of Onset:

All ages ⁵⁸

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: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Diseases of the nervous system

Systemic atrophies primarily affecting the central nervous system

Hereditary ataxia

Early-onset cerebellar ataxia

Orphanet: ⁵⁸

Rare neurological diseases

Rare eye diseases

Inborn errors of metabolism

Sources

Summaries for Ataxia with Vitamin E Deficiency

MedlinePlus Genetics: ⁴² 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.

MalaCards based summary: Ataxia with Vitamin E Deficiency, also known as ataxia with isolated vitamin e deficiency, is related to friedreich ataxia and aceruloplasminemia, and has symptoms including ataxia An important gene associated with Ataxia with Vitamin E Deficiency is TTPA (Alpha Tocopherol Transfer Protein), and among its related pathways/superpathways is Riboflavin and CoQ disorders. The drugs Lactitol and Iron have been mentioned in the context of this disorder. Affiliated tissues include eye, breast and prostate, and related phenotypes are abnormal pyramidal sign and muscle weakness

GARD: ¹⁹ 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 peolple who have AVED may experience vision loss due to damage to the back of the eye. AVED is caused by a genetic change 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 damaging molecules called free radicals. AVED is inherited in an autosomal recessive manner.

Disease Ontology: ¹¹ A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has material basis in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12.

Orphanet: ⁵⁸ A neurodegenerative disease belonging to the inherited cerebellar ataxias mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.

UniProtKB/Swiss-Prot: ⁷³ An autosomal recessive disease characterized by undetectable or markedly reduced plasma levels of vitamin E, spinocerebellar degeneration, ataxia, areflexia and proprioception loss.

Wikipedia: ⁷⁵ Familial isolated vitamin E deficiency or Ataxia with vitamin E deficiency (AVED) is a rare autosomal... more...

More information from OMIM: 277460

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 top 50) (show all 90)

#	Related Disease	Score	Top Affiliating Genes
1	friedreich ataxia	30.5	TTPA SIL1 SETX FXN APTX
2	aceruloplasminemia	30.4	SETX FXN COQ8A
3	autosomal dominant cerebellar ataxia	30.0	TTPA SETX SACS FXN APTX
4	peripheral nervous system disease	30.0	SETX SACS FXN APTX
5	dystonia	29.9	VAC14 TTPA ATCAY APTX
6	autosomal recessive cerebellar ataxia	29.9	TTPA SETX SACS FXN COQ8A APTX
7	hereditary ataxia	29.9	TTPA SETX SACS FXN COQ8A APTX
8	spasticity	10.3
9	tabes dorsalis	10.2	TTPA FXN
10	dystonia 12	10.2
11	abetalipoproteinemia	10.2
12	cervical dystonia	10.2
13	sensory peripheral neuropathy	10.2
14	movement disease	10.2
15	neuropathy	10.2
16	tremor	10.2
17	vestibular nystagmus	10.2	TTPA APTX
18	oculomotor apraxia	10.2	SETX APTX
19	tertiary neurosyphilis	10.2	TTPA FXN
20	progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3	10.2	TTPA SACS
21	ataxia-oculomotor apraxia 3	10.2	SETX APTX
22	spinocerebellar ataxia, autosomal recessive 27	10.2	TTPA SETX
23	spinocerebellar ataxia, autosomal recessive 26	10.1	SETX APTX
24	atrial standstill 1	10.1
25	macular degeneration, age-related, 1	10.1
26	cerebral palsy, ataxic, autosomal recessive	10.1	SETX APTX
27	impotence	10.1
28	lichtenstein-knorr syndrome	10.1	TTPA SACS FXN
29	mitochondrial complex iii deficiency, nuclear type 2	10.1	TTPA SACS FXN
30	spinocerebellar ataxia, autosomal recessive 14	10.1	SACS COQ8A
31	spinocerebellar ataxia type 1 with axonal neuropathy	10.1	SETX APTX
32	spastic paraplegia 7, autosomal recessive	10.1	TTPA SETX SACS
33	alzheimer disease, familial, 1	10.1
34	down syndrome	10.1
35	retinitis pigmentosa	10.1
36	dystonia 3, torsion, x-linked	10.1
37	parkinsonism	10.1
38	sensorineural hearing loss	10.1
39	retinitis	10.1
40	liver disease	10.1
41	immune-mediated thrombotic thrombocytopenic purpura	10.1
42	apraxia	10.1	SIL1 SETX APTX
43	cerebellar ataxia, cayman type	10.1	TTPA ATCAY
44	amyotrophic lateral sclerosis 4, juvenile	10.1	SETX APTX
45	ehlers-danlos syndrome, vascular type	10.0
46	type 1 diabetes mellitus	10.0
47	choreatic disease	10.0	SETX FXN APTX
48	coenzyme q10 deficiency disease	10.0	SACS COQ8A APTX
49	axonal neuropathy	10.0
50	mitochondrial disease	10.0

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:

⁵⁸ ³⁰ (show all 41)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	abnormal pyramidal sign ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0007256
2	muscle weakness ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001324
3	areflexia ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001284
4	scoliosis ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002650
5	nystagmus ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000639
6	dysarthria ⁵⁸ ³⁰	Very rare (1%)	Frequent (79-30%)	HP:0001260
7	gait disturbance ⁵⁸ ³⁰	Very rare (1%)	Frequent (79-30%)	HP:0001288
8	dysmetria ⁵⁸ ³⁰	Very rare (1%)	Frequent (79-30%)	HP:0001310
9	nyctalopia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000662
10	sensory neuropathy ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000763
11	pes cavus ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001761
12	dysdiadochokinesis ⁵⁸ ³⁰	Very rare (1%)	Frequent (79-30%)	HP:0002075
13	tremor ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001337
14	diabetes mellitus ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000819
15	developmental regression ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0002376
16	visual impairment ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000505
17	abnormality of retinal pigmentation ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0007703
18	abnormality of visual evoked potentials ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0000649
19	hypertonia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001276
20	skeletal muscle atrophy ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0003202
21	hypertrophic cardiomyopathy ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001639
22	hemiplegia/hemiparesis ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0004374
23	arrhythmia ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0011675
24	mental deterioration ⁵⁸ ³⁰	Occasional (7.5%)	Occasional (29-5%)	HP:0001268
25	dystonia ⁵⁸ ³⁰	Very rare (1%)	Occasional (29-5%)	HP:0001332
26	low levels of vitamin e ³⁰	Very rare (1%)		HP:0100513
27	positive romberg sign ³⁰	Very rare (1%)		HP:0002403
28	cerebellar atrophy ³⁰	Very rare (1%)		HP:0001272
29	clumsiness ³⁰	Very rare (1%)		HP:0002312
30	progressive cerebellar ataxia ³⁰	Very rare (1%)		HP:0002073
31	perseveration ³⁰	Very rare (1%)		HP:0030223
32	abnormality of central somatosensory evoked potentials ³⁰	Very rare (1%)		HP:0100291
33	short term memory impairment ³⁰	Very rare (1%)		HP:0033687
34	neurological speech impairment ⁵⁸		Frequent (79-30%)
35	ataxia ⁵⁸		Very frequent (99-80%)
36	hypertriglyceridemia ³⁰			HP:0002155
37	increased ldl cholesterol concentration ³⁰			HP:0003141
38	hypercholesterolemia ³⁰			HP:0003124
39	peripheral neuropathy ⁵⁸		Very frequent (99-80%)
40	xanthelasma ³⁰			HP:0001114
41	tendon xanthomatosis ³⁰			HP:0010874

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Neuro:
areflexia
spinocerebellar ataxia
proprioception loss

Lab:
undetectable serum vitamin e
high serum cholesterol, triglyceride and beta-lipoprotein
defective liver 'tocopherol binding protein'

Skin:
xanthelasmata
tendon xanthomas

Clinical features from OMIM®:

277460 (Updated 08-Dec-2022)

UMLS symptoms related to Ataxia with Vitamin E Deficiency:

ataxia

MGI Mouse Phenotypes related to Ataxia with Vitamin E Deficiency:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	9.65	APTX ATCAY COQ8A FXN SACS SETX
2	behavior/neurological	MP:0005386	9.36	APTX ATCAY COQ8A DMGDH FXN SACS

Sources

Drugs & Therapeutics for Ataxia with Vitamin E Deficiency

Drugs for Ataxia with Vitamin E Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 534)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Lactitol

Approved, Investigational

Phase 4

585-86-4

157355

Iron

Approved

Phase 4

7439-89-6

29936

Acetaminophen

Approved

Phase 4

103-90-2

1983

Efavirenz

Approved, Investigational

Phase 4

154598-52-4

64139

Racivir

Approved, Investigational

Phase 4

143491-57-0, 143491-54-7

60877

Glucagon

Approved

Phase 4

16941-32-5

16133228 16186314

Zinc cation

Approved, Experimental, Investigational

Phase 4

7440-66-6, 23713-49-7

32051

Mupirocin

Approved, Investigational, Vet_approved

Phase 4

12650-69-0

446596

Amlodipine

Approved

Phase 4

88150-42-9

2162

Metoprolol

Approved, Investigational

Phase 4

37350-58-6, 51384-51-1

4171

Tamsulosin

Approved, Investigational

Phase 4

106133-20-4

129211

Retapamulin

Approved

Phase 4

224452-66-8

6918462

Racepinephrine

Approved, Vet_approved

Phase 4

51-43-4, 329-65-7

838 5816

Amifostine

Approved, Investigational

Phase 4

20537-88-6

2141

Dexamethasone acetate

Approved, Investigational, Vet_approved

Phase 4

1177-87-3

3680

Dexamethasone

Approved, Investigational, Vet_approved

Phase 4

50-02-2

3003 5743

Acetylsalicylic acid

Approved, Vet_approved

Phase 4

50-78-2

2244

Prednisone

Approved, Vet_approved

Phase 4

53-03-2

5865

Esmolol

Approved, Withdrawn

Phase 4

103598-03-4, 81147-92-4

59768

Meloxicam

Approved, Vet_approved

Phase 4

71125-38-7

54677470 5281106

Nimesulide

Approved, Investigational, Withdrawn

Phase 4

51803-78-2

4495

Diclofenac

Approved, Vet_approved

Phase 4

15307-86-5, 15307-79-6

3033

Zinc sulfate

Approved, Investigational

Phase 4

7733-02-0

Levoleucovorin

Approved, Experimental, Investigational

Phase 4

68538-85-2, 58-05-9, 73951-54-9

149436 6006

Amodiaquine

Approved, Investigational

Phase 4

86-42-0

2165

Pyrimethamine

Approved, Investigational, Vet_approved

Phase 4

58-14-0, 19085-09-7

4993

Sulfadoxine

Approved, Investigational

Phase 4

2447-57-6

17134

Artenimol

Approved, Experimental, Investigational

Phase 4

71939-50-9

540327

Artemether

Approved

Phase 4

71963-77-4

68911 9796294

Lumefantrine

Approved

Phase 4

82186-77-4

6437380

Piperaquine

Approved, Experimental, Investigational

Phase 4

4085-31-8

Gabapentin

Approved, Investigational

Phase 4

60142-96-3

3446

Diazepam

Approved, Illicit, Investigational, Vet_approved

Phase 4

439-14-5

3016

Artesunate

Approved, Investigational

Phase 4

88495-63-0

6917864 5464098

Epoprostenol

Approved

Phase 4

61849-14-7, 35121-78-9

5282411

Treprostinil

Approved, Investigational

Phase 4

81846-19-7

6918140

Levofloxacin

Approved, Investigational

Phase 4

100986-85-4

149096

Ofloxacin

Approved

Phase 4

82419-36-1

4583

Ascorbic acid

Approved, Nutraceutical

Phase 4

50-81-7

54676860 54670067 5785

Folic acid

Approved, Nutraceutical, Vet_approved

Phase 4

59-30-3

6037

Tenofovir

Experimental, Investigational

Phase 4

147127-20-6, 202138-50-9

464205 6398764

Pyronaridine

Investigational

Phase 4

74847-35-1

5485198

Tezosentan

Investigational

Phase 4

180384-57-0

Antipsychotic Agents

Phase 4

Adrenergic Agents

Phase 4

Hormones

Phase 4

Calcium, Dietary

Phase 4

Liver Extracts

Phase 4

Analgesics

Phase 4

Hormone Antagonists

Phase 4

Interventional clinical trials:

(show top 50) (show all 497)

#	Name	Status	NCT ID	Phase	Drugs
1	A Five Year, Prospective, Randomized, Blinded, Controlled Trial Comparing the Efficacy of a Modified Diabetes Prevention Protocol and the Standard Comprehensive Outpatient Care in Lowering the Incidence of New Onset Diabetes Among People Treated for Schizophrenia and Are at Risk to Develop Type II Diabetes Mellitus.	Unknown status	NCT00182494	Phase 4
2	An Immunogenicity and Safety Study of Combined Adsorbed Tetanus, Low Dose Diphtheria and Acellular Pertussis Vaccine (Td5ap and Td1aP) Given as a School-leaving Booster to 14-15-year-old Children Primed With a Five Component Acellular Pertussis Vaccine at 3, 5 and 12 Months of Age, and a Booster Dose at 5½ Years of Age	Unknown status	NCT00870350	Phase 4
3	The Treatment of Periodontal Diseases. A Randomized, Blinded, Five Years Follow-up, Four-arm, Placebo Controlled Clinical Intervention Trial	Unknown status	NCT01318928	Phase 4	Metronidazol
4	A Single Blind, Multicentric, Comparative, Vaccine Interchangeability Trial of Shan 5 (Liquid) and Easy Five (Liquid) [Diphtheria-Tetanus- Pertussis, Hepatitis B and Hib Pentavalent Combination Vaccines] in Indian Infants.	Completed	NCT00674908	Phase 4
5	A Randomized Controlled Trial of a Weekly Schedule of Five Consecutive Days on Treatment With Efavirenz, Tenofovir, and Emtricitabine Followed by Two Days Off Treatment (5/2 Intermittent Treatment Schedule) Versus Continuous Treatment in Individuals With Virologic Suppression on This Combination	Completed	NCT00414635	Phase 4	Intermitent Dosing
6	Pilot Clinical Trial of ACTHar Gel 14 Days Subcutaneous (SQ) Versus ACTHar Gel Five Days SQ for the Treatment of MS Exacerbations	Completed	NCT01888354	Phase 4	H.P. Acthar Gel (repository corticotropin injection)
7	A Single Centre, Open, Non-controlled Study in Healthy Subjects to Assess the Eradication of Nasal Carriage of Staphylococcus Aureus (SA) Following a Five Day Course of Mupirocin (Bactroban 2% Nasal Ointment) Using a Broth Enriched Culture Microbiological Assessment.	Completed	NCT02284555	Phase 4	Mupirocin
8	A Five-arm, Randomised, Open Label, Multi-centre, Prospective Study to Compare the Efficacy, Safety and Tolerability of Metoprolol XL Plus Amlodipine Combination (Selomax TM) With Metoprolol XL and Amlodipine as Individual Components in Management of Hypertension in Indian Patients.	Completed	NCT00819104	Phase 4	Metoprolol XL 50mg + Amlodipine 5mg;Metoprolol XL 25 mg + Amlodipine 2.5mg;Metoprolol XL 50mg;Metoprolol XL 25 mg;Amlodipine 5mg
9	Parasite Clearance Time and Time to Recurrent Infection Following Treatment With Artemether/Lumefantrine Among Children With Uncomplicated P. Falciparum Malaria Five Years After Wide Scale Use of the Drug in Tanzania	Completed	NCT01998295	Phase 4	Artemether/lumefantrine
10	A Phase IV, Uncontrolled, Open-Label, Multi-Center Study in Children and Adolescents: Evaluation of Long-Term Immunogenicity in Subjects Boosted With a New Pediatric TBE Vaccine (Free of Protein-Derived Stabilizer) in Study V48P4E1, Five Years After First Booster Immunization	Completed	NCT00452621	Phase 4
11	Efficacy of Artemether/Lumefantrine for the Treatment of Uncomplicated Plasmodium Falciparum Malaria in Children Five Years After Wide Scale Use of the Drug in Tanzania.	Completed	NCT02089841	Phase 4	Artemether-lumefantrine
12	Hepatic Function Following Five Days of Therapeutic Dosing of Acetaminophen in Alcoholics	Completed	NCT00427206	Phase 4	acetaminophen (4g/day);placebo
13	Randomized Clinical Trial of Posterior Retroperitoneoscopic Adrenalectomy Versus Lateral Transperitoneal Laparoscopic Adrenalectomy With a Five-year Follow-up	Completed	NCT01959711	Phase 4
14	A Forty-Five Day, Open-label Study of the Symptomatic Relief Effects of FLOMAX® Capsules 0.4 mg Daily in Patients With the Signs and Symptoms of Benign Prostatic Hyperplasia	Completed	NCT02244242	Phase 4	Tamsulosin hydrochloride
15	An Open-Label, Non-Comparative Study to Assess the Pharmacokinetics, Safety and Efficacy of Topical Retapamulin (SB-275833) Ointment, 1%, Twice Daily for Five Days in the Treatment of Uncomplicated Skin and Skin Structure Infections in Pediatric Subjects Aged 2 to 24 Months	Completed	NCT00555061	Phase 4	Retapamulin Ointment, 1%
16	A Randomized Open-Label Trial of the Efficacy of Artemether-Lumefantrine Suspension Compared With Artemether-Lumefantrine Tablets for the Treatment of Uncomplicated Plasmodium Falciparum Malaria in Children Less Than Five Years in Western Kenya	Completed	NCT00529867	Phase 4	Artemether/lumefantrine tablets;Artemether/Lumefantrine suspension
17	Impact of Improved Financial Access to Health Care on Morbidity Due to Severe Malaria and Healthcare Utilization Among Children 6 Months to Five Years of Age in a Hyper Endemic Area in Ghana: a Randomized Controlled Trial	Completed	NCT00146692	Phase 4
18	Comparison of the Outcomes of Ultra-Short Anatomic and Conventional Cementless Stems in Patients Younger Than Fifty-Five Years Old	Completed	NCT02338596	Phase 4
19	A Phase IV Open Label Study of the Effects of a Five Minute Infusion Time for Ethyol (Amifostine) in Patients Undergoing Chemotherapy	Completed	NCT00003252	Phase 4	amifostine trihydrate
20	Hospitalization and Mortality in Iron Deficient, Anemic Patients With Chronic Kidney (CKD) and Heart Failure Receiving Intravenous Iron Therapy: A Five Year Follow-up From a Pilot Study	Completed	NCT02392910	Phase 4	Iron Sucrose;Placebo
21	Phase IV Study to Compare the Accuracy and Precission of Five Different Home Glucose Monitors;Optium Xceed, Contour Ts, Accu-chek Go, One Touch Select and Ez Smart	Completed	NCT01013402	Phase 4	Human insulin;Human Insulin
22	A Two-arm, Multicenter, Randomized, Double-blind, Single Dose Placebo-controlled Parallel Groups Study Evaluating Efficacy and Tolerability of 800 mg Acetylsalicylic Acid (Aspirina® C) in Adult Patients With a Common Cold During a Two Hour in Patient Phase; and a Follow-up Period of Five Days of Home Treatment as Required	Completed	NCT01033526	Phase 4	Aspirin (Acetylsalicylic acid, BAYE4465);Placebo
23	A Randomized, Participant-blinded Five-arm Crossover Study With Blinded Outcome Assessment Investigating Glucagon's Cardiovascular Effects With and Without Beta-blocker-induced Cardioinhibition.	Completed	NCT03533179	Phase 4	Glucagon;Esmolol;Physiologic saline - glucagon dummy;Physiologic saline - esmolol dummy
24	A Comparison of Five Airway Clearance Techniques in the Treatment of Adults With Cystic Fibrosis	Completed	NCT00890370	Phase 4
25	A Randomized Double-Blind Controlled Trial of Single Oral Dose Dexamethasone Versus Five Days of Oral Prednisone in Acute Mild to Moderate Adult Asthma	Completed	NCT01241006	Phase 4	Dexamethasone;Prednisone
26	Five-Year Outcome of Ceramic on Ceramic Bearing Versus Ceramic on Crossfire® Highly Cross-Linked Polyethylene Bearing in Primary Total Hip Arthroplasty: A Randomized Trial	Completed	NCT01522014	Phase 4
27	Home and Community Management of Fevers/Malaria and Pneumonia in Children Under-five: a Cluster Randomised Controlled Trial of an Integrated Approach in a Rural District of Burkina Faso	Completed	NCT02151578	Phase 4
28	Randomized, Open-label, Controlled Trial to Assess the Clinical Efficacy and Safety of Meloxicam Suspension 0.25 mg/kg/Day Once a Day, Versus Diclofenac 1 mg/kg/Day Twice a Day or Nimesulide 4 mg/kg/Day Twice a Day, for Five Days in the Treatment of Patients With Acute, Non-bacterial Pharyngitis, Pharyngotonsillitis or Laryngitis	Completed	NCT02229747	Phase 4	Meloxicam;Diclofenac;Nimesulide
29	The Effect of Daily Zinc Supplementation on Prevention of Diarrhea and Acute Respiratory Infections Among Children Less Than Five Years: A Randomized Controlled Trial	Completed	NCT05002101	Phase 4	Placebo
30	A Randomized Comparison of Five Low Volume Bowel Preparations for Colonoscopy	Completed	NCT01719653	Phase 4	MiraLAX;MoviPrep;SUPREP
31	A Phase 4, Randomized, Double-blind, Double-dummy, Placebo and Active-controlled, Single-dose, Five-way Crossover Study Evaluating the Abuse Potential of Three Doses of NEURONTIN® Taken Orally in Healthy, Non-drug Dependent Participants With Sedative Drug Abuse Experience	Recruiting	NCT04570436	Phase 4	gabapentin 600 mg;gabapentin 1200 mg;gabapentin 1800 mg;diazepam 20 mg
32	Monitoring the Therapeutic Efficacy of the Combinations Artemether-Lumefantrine, Amodiaquine-Artesunate, Dihydroartemisinin-Piperaquine, and Pironaridine-Artesunate in the Treatment of Uncomplicated Plasmodium Falciparum Malaria in Children Under 5 Years of Age in Five Sentinel Sites in Mozambique	Recruiting	NCT05343312	Phase 4	AL (Coartem);AS-AQ (Carsucam);DHP;PA
33	A Hybrid Effectiveness-implementation Study to Assess the Effectiveness and Chemoprevention Efficacy of Implementing Seasonal Malaria Chemoprevention in Five Districts in Karamoja Region, Uganda	Recruiting	NCT05323721	Phase 4	Sulfadoxine pyrimethamine and amodiaquine;dihydroartemisinin-piperaquine
34	Rapid Switch From Intravenous Epoprostenol to Intravenous Remodulin® (Treprostinil Sodium) Using the Crono Five Ambulatory Infusion Pump in Patients With Stable Pulmonary Arterial Hypertension (PAH): Safety, Efficacy and Treatment Satisfaction	Terminated	NCT00439946	Phase 4	treprostinil
35	TREATMENT OF COMPLICATED URINARY INFECTION WITH FIVE DAY HIGH DOSE LEVOFLOXACIN	Terminated	NCT00245791	Phase 4	Levofloxacin
36	A Double-blind Placebo-controlled Trial of Dietary Supplementation With 15g/Day FOS for Five Weeks in Patients With Endometrial/Cervical Carcinoma or 7.5 Weeks in Patients With Prostate Carcinoma Undergoing Pelvic Radiotherapy.	Unknown status	NCT01414517	Phase 3
37	Testing Decision Aids to Improve Prostate Cancer Decisions for Minority Men	Completed	NCT03103321	Phase 3
38	A Double Blind Randomization to Letrozole or Placebo for Women Previously Diagnosed With Primary Breast Cancer Completing Five Years of Adjuvant Aromatase Inhibitor Either as Initial Therapy or After Tamoxifen (Including Those in The MA.17 Study)	Completed	NCT00754845	Phase 3	letrozole
39	An Optional Prospective Follow-on Study to Evaluate the Continued Efficacy and Safety of Cat-PAD in Cat Allergic Subjects up to Five Years After the Administration of Treatment	Completed	NCT02040844	Phase 3	Received Cat-PAD Treatment 1 in Study CP007 [NCT01620762];Received Cat-PAD Treatment 2 in Study CP007 [NCT01620762];Received Cat-PAD Treatment 3 in Study CP007 [NCT01620762]
40	The "EMBRACE" Trial: Eisai Metastatic Breast Cancer Study Assessing Physician's Choice Versus E7389. A Phase III Open-Label, Randomized, Parallel, Two-arm, Multi-center Study of E7389 Versus "Treatment of Physician's Choice" in Patients With Locally Recurrent, Metastatic Breast Cancer, Previously Treated With At Least Two and a Maximum of Five Prior Chemotherapy Regimens, Including an Anthracycline and a Taxane	Completed	NCT00388726	Phase 3	E7389;Physician's Choice
41	Safety, Immunogenicity and Lot Comparability of DAPTACEL™ (Aventis Pasteur Classic Five-component Pertussis Vaccine in Combination With Tetanus and Diphtheria Toxoids Adsorbed) When Administered With Other Recommended Vaccines at 2, 4, 6, and 15 to 16 Months of Age.	Completed	NCT00662870	Phase 3
42	A Comparative Randomized, Double-blind, Double-Dummy, Multicenter Study of the Efficacy and Safety of Miconazole Lauriad 50mg Administered Once a Day and Mycelex Troches (Clotrimazole 10mg) Administered Five Times a Day in the Treatment of Oropharyngeal Candidiasis in Immunocompromised Patients	Completed	NCT00390780	Phase 3	miconazole Lauriad;Clotrimazole
43	Ceftriaxone Versus Chloramphenicol for Treatment of Severe Pneumonia in Children Aged Less Than Five Years at Mulago Hospital: A Randomized Controlled Trial	Completed	NCT00372541	Phase 3	ceftriaxone
44	A Multicenter, Double-blind, Randomized, Cross-over Study to Investigate the Efficacy of Gynodian® Depot i.m. Compared to 4 mg Estradiol Valerate i.m. Both Given Every Four Weeks for Five Months Combined With 5 mg Medroxyprogesterone Acetate Orally in Postmeno-pausal Women With Impaired Well-being, Mood and Sexuality	Completed	NCT00463450	Phase 3	Gynodian® Depot (BAY86-5032);BAY86-4980
45	A Multi-Center, Randomized, Double-Blind, Placebo-Controlled, Five-Arm Parallel-Group Trial to Investigate the Efficacy and Safety of Four Different Transdermal Doses of Rotigotine in Subjects With Idiopathic Restless Legs Syndrome	Completed	NCT00135993	Phase 3	Rotigotine
46	Phase III Trial of Five Versus Six Fractions Per Week for Head and Neck Cancer	Completed	NCT00120211	Phase 3
47	A Randomized Trial Evaluating The Effect Of Exemestane In Clinical Stage T1-3 N0-1 M0 Postmenopausal Breast Cancer Patients Completing At Least Five Years Of Tamoxifen Therapy	Completed	NCT00016432	Phase 3	exemestane;Placebo
48	An Open-label, 8-Week Study to Compare the Comfort and Ease of Use of Five Different Treatment Regimens for CNTX-4975-05 Intra-articular Injection in Subjects With Chronic, Moderate-to-Severe Osteoarthritis Knee Pain	Completed	NCT03661996	Phase 3	CNTX-4975-05;Lidocaine without epinephrine
49	Verorab® Immunogenicity and Safety After a One-week, 4-site, Intradermal (ID) Post-exposure Prophylaxis Regimen (4-4-4-0-0) Followed by a One-visit, 4-site, ID Booster at Five Years	Completed	NCT01622062	Phase 3
50	Multicentric Pragmatic Randomized Controled Trial to Evaluate the Efficacy Chloroquine or Hydroxychloroquine for Five Days in Treating Pneumonia Caused by SARS-Cov-2 - COVID-19	Completed	NCT04420247	Phase 3	Chloroquine;Hydroxychloroquine

Search NIH Clinical Center for Ataxia with Vitamin E Deficiency

Cochrane evidence based reviews: ataxia with vitamin e deficiency

Sources

Genetic Tests for Ataxia with Vitamin E Deficiency

Genetic tests related to Ataxia with Vitamin E Deficiency:

#	Genetic test	Affiliating Genes
1	Familial Isolated Deficiency of Vitamin E ²⁸	TTPA

Sources

Anatomical Context for Ataxia with Vitamin E Deficiency

Organs/tissues related to Ataxia with Vitamin E Deficiency:

MalaCards : Eye, Breast, Prostate, Lung, Liver, Bone, Bone Marrow

Sources

Publications for Ataxia with Vitamin E Deficiency

Articles related to Ataxia with Vitamin E Deficiency:

(show top 50) (show all 30207)

#	Title	Authors	PMID	Year
1	Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency. ⁶² ²⁴ ⁵⁷ ⁵	Schuelke M...Finckh B	9931538	1999
2	Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency. ⁶² ²⁴ ⁵⁷ ⁵	Hentati A...Ahmed	8602747	1996
3	Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. ⁶² ²⁴ ⁵⁷ ⁵	Ouahchi K...Koenig M	7719340	1995
4	A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia. ⁶² ⁵⁷ ⁵	Cellini E...Sorbi S	12470185	2002
5	Ataxia with Vitamin E Deficiency May Present with Cervical Dystonia. ⁶² ²⁴ ⁵	Becker AE...Pearson TS	27274910	2016
6	Ataxia with vitamin e deficiency in norway. ⁶² ²⁴ ⁵	Elkamil A...Aasly J	25614784	2015
7	Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency. ⁶² ²⁴ ⁵	El Euch-Fayache G...Hentati F	24369383	2014
8	Biochemical consequences of heritable mutations in the alpha-tocopherol transfer protein. ⁶² ²⁴ ⁵	Qian J...Manor D	16819822	2006
9	Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients. ⁶² ²⁴ ⁵	Marzouki N...Benlemlih M	15953402	2005
10	Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. ⁶² ²⁴ ⁵	Mariotti C...Di Donato S	15300460	2004
11	Molecular determinants of heritable vitamin E deficiency. ⁶² ²⁴ ⁵	Morley S...Manor D	15065857	2004
12	The molecular basis of vitamin E retention: structure of human alpha-tocopherol transfer protein. ⁶² ²⁴ ⁵	Meier R...Stocker A	12899840	2003
13	Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families. ⁶² ²⁴ ⁵	Benomar A...Koenig M	12039660	2002
14	Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. ⁶² ²⁴ ⁵	Cavalier L...Koenig M	9463307	1998
15	Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. ⁶² ²⁴ ⁵⁷	Ben Hamida C...Cohen D	8252047	1993
16	Impaired ability of patients with familial isolated vitamin E deficiency to incorporate alpha-tocopherol into lipoproteins secreted by the liver. ⁶² ²⁴ ⁵⁷	Traber MG...Kayden HJ	2298915	1990
17	Spinocerebellar degeneration associated with a selective defect of vitamin E absorption. ²⁴ ⁵⁷	Harding AE...Muller DP	4000224	1985
18	Neuromyopathy and vitamin E deficiency in man. ²⁴ ⁵⁷	Burck U...Goebel KM	6945489	1981
19	Ataxia with vitamin E deficiency in the Philippines : A case report of two siblings. ⁶² ⁵	Tabuena MD...Kawarai T	34759169	2021
20	Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia. ⁶² ⁵	Hamza W...Benhassine T	26068213	2015
21	Normal spermatogenesis and sperm function in a subject affected by cerebellar ataxia due to congenital vitamin E deficiency. ⁶² ⁵	Rossato M...Mariotti C	23445347	2014
22	Ataxia with vitamin E deficiency in southeast Norway, case report. ⁶² ⁵	Koht J...Tallaksen CM	19566498	2009
23	A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency. ⁶² ⁵	Fernandez-Burriel M...Espinos C	18458655	2008
24	Mechanisms of ligand transfer by the hepatic tocopherol transfer protein. ⁶² ⁵	Morley S...Manor D	18458085	2008
25	Autosomal recessive ataxia caused by three distinct gene defects in a single consanguineous family. ⁶² ⁵⁷	Bouhlal Y...Amouri R	18569450	2008
26	Ataxia with vitamin E deficiency and severe dystonia: report of a case. ⁶² ⁵	Roubertie A...Echenne B	12907280	2003
27	Familial ataxia with isolated vitamin E deficiency not due to mutation of alpha-TTP. ⁶² ⁵⁷	Shiojiri T...Mizusawa H	10552255	1999
28	Ataxia with isolated vitamin E deficiency: a Japanese family carrying a novel mutation in the alpha-tocopherol transfer protein gene. ⁶² ⁵	Hoshino M...Kanazawa I	10360777	1999
29	alpha-Tocopherol transfer protein gene: exon skipping of all transcripts causes ataxia. ⁶² ⁵	Tamaru Y...Ueno S	9270601	1997
30	Ataxia with vitamin E deficiency: refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families. ⁶² ⁵⁷	Doerflinger N...Hentati F	7726167	1995
31	Isolated vitamin E deficiency in the absence of fat malabsorption--familial and sporadic cases: characterization and investigation of causes. ⁶² ⁵⁷	Sokol RJ...Stumpf DA	3361234	1988
32	A progressive neurological syndrome associated with an isolated vitamin E deficiency. ⁶² ⁵⁷	Laplante P...Brochu P	6509402	1984
33	Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia. ⁵	Shakya S...Faruq M	31429931	2019
34	Epilepsy in a patient with ataxia caused by vitamin E deficiency. ⁵	Muller KI...Bekkelund SI	22696689	2011
35	Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management. ⁶² ²⁴	Anheim M...Koenig M	19440741	2010
36	Ataxia with vitamin E deficiency associated with deafness. ⁶² ²⁴	Kara B...Kayserili H	19102053	2008
37	Prevalence of inherited ataxias in the province of Padua, Italy. ⁶² ²⁴	Zortea M...Trevisan CP	15297793	2004
38	Crystal structure of human alpha-tocopherol transfer protein bound to its ligand: implications for ataxia with vitamin E deficiency. ⁶² ²⁴	Min KC...Hendrickson WA	14657365	2003
39	Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency. ⁶² ²⁴	Gabsi S...Hentati F	11554913	2001
40	Ataxia with vitamin E deficiency: biochemical effects of malcompliance with vitamin E therapy. ⁶² ²⁴	Schuelke M...von Moers A	11094124	2000
41	Ataxia caused by mutations in the alpha-tocopherol transfer protein gene. ⁶² ²⁴	Usuki F...Maruyama K	10896705	2000
42	Localization of alpha-tocopherol transfer protein in the brains of patients with ataxia with vitamin E deficiency and other oxidative stress related neurodegenerative disorders. ⁶² ²⁴	Copp RP...Kayden HJ	10082886	1999
43	Affinity for alpha-tocopherol transfer protein as a determinant of the biological activities of vitamin E analogs. ⁶² ²⁴	Hosomi A...Inoue K	9199513	1997
44	Friedreich's ataxia with isolated vitamin E deficiency: a neuropathological study of a Tunisian patient. ⁶² ²⁴	Larnaout A...Hentati F	9194904	1997
45	Ataxia with isolated vitamin E deficiency in four siblings. ⁶² ²⁴	Shorer Z...Moses S	8972536	1996
46	Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein. ⁶² ²⁴	Gotoda T...Yamada N	7566022	1995
47	Familial isolated vitamin E deficiency. Extensive study of a large family with a 5-year therapeutic follow-up. ⁶² ²⁴	Amiel J...Landrieu P	7474901	1995
48	Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families. ⁵⁷	Ben Hamida M...Koenig M	8232925	1993
49	Impaired discrimination between stereoisomers of alpha-tocopherol in patients with familial isolated vitamin E deficiency. ⁶² ²⁴	Traber MG...Kayden HJ	8429255	1993
50	[Familial idiopathic vitamin E deficiency associated with cerebellar atrophy]. ⁵⁷	Aoki K...Yanagisawa N	2265507	1990

Sources

Genes for Ataxia with Vitamin E Deficiency

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

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TTPA	Alpha Tocopherol Transfer Protein	Protein Coding	1712.52	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Summaries (show sections)	7719340 8602747 9270601 (more) 9463307 9931538 10360777 12039660 12470185 12899840 12907280 15300460 15953402 19566498 22696689 23445347 24369383 25614784 26068213 27274910 3837850 18458655
2	SACS	Sacsin Molecular Chaperone	Protein Coding	6.3	DISEASES inferred ¹⁴
3	FXN	Frataxin	Protein Coding	5.7	DISEASES inferred ¹⁴
4	APTX	Aprataxin	Protein Coding	5.67	DISEASES inferred ¹⁴
5	SIL1	SIL1 Nucleotide Exchange Factor	Protein Coding	5.62	DISEASES inferred ¹⁴
6	SEC14L2	SEC14 Like Lipid Binding 2	Protein Coding	5.54	DISEASES inferred ¹⁴
7	SETX	Senataxin	Protein Coding	5.48	DISEASES inferred ¹⁴
8	MT-TG	Mitochondrially Encoded TRNA-Gly (GGN)	RNA Gene	5.3	DISEASES inferred ¹⁴
9	COQ8A	Coenzyme Q8A	Protein Coding	5.21	DISEASES inferred ¹⁴
10	ATCAY	ATCAY Kinesin Light Chain Interacting Caytaxin	Protein Coding	5.19	DISEASES inferred ¹⁴
11	DMGDH	Dimethylglycine Dehydrogenase	Protein Coding	5.01	DISEASES inferred ¹⁴
12	SEC14L6	SEC14 Like Lipid Binding 6	Protein Coding	4.97	DISEASES inferred ¹⁴
13	SLC5A7	Solute Carrier Family 5 Member 7	Protein Coding	4.92	DISEASES inferred ¹⁴
14	VAC14	VAC14 Component Of PIKFYVE Complex	Protein Coding	4.89	DISEASES inferred ¹⁴

Sources

Variations for Ataxia with Vitamin E Deficiency

ClinVar genetic disease variations for Ataxia with Vitamin E Deficiency:

⁵ (show top 50) (show all 118)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	TTPA	NM_000370.3(TTPA):c.530_531delinsGTAAGT (p.Lys177fs)	INDEL	Pathogenic	65595	rs1554605631	GRCh37: 8:63978484-63978485 GRCh38: 8:63065925-63065926
2	TTPA	NM_000370.3(TTPA):c.384del (p.Ala129fs)	DEL	Pathogenic	1323726		GRCh37: 8:63978631-63978631 GRCh38: 8:63066072-63066072
3	TTPA	NM_000370.3(TTPA):c.553-1G>T	SNV	Pathogenic	1027489		GRCh37: 8:63976876-63976876 GRCh38: 8:63064317-63064317
4	TTPA	NM_000370.3(TTPA):c.19del (p.Gln7fs)	DEL	Pathogenic	208623	rs760014795	GRCh37: 8:63998562-63998562 GRCh38: 8:63086003-63086003
5	TTPA	NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs)	INSERT	Pathogenic	9139	rs397515379	GRCh37: 8:63978501-63978502 GRCh38: 8:63065942-63065943
6	TTPA	NM_000370.3(TTPA):c.744del (p.Glu249fs)	DEL	Pathogenic	9136	rs397515377	GRCh37: 8:63973904-63973904 GRCh38: 8:63061345-63061345
7	TTPA	NM_000370.3(TTPA):c.205-1G>C	SNV	Pathogenic	370407	rs886040963	GRCh37: 8:63985648-63985648 GRCh38: 8:63073089-63073089
8	TTPA	NM_000370.3(TTPA):c.400C>T (p.Arg134Ter)	SNV	Pathogenic/Likely Pathogenic	9141	rs121917851	GRCh37: 8:63978615-63978615 GRCh38: 8:63066056-63066056
9	TTPA	NM_000370.3(TTPA):c.487del (p.Trp163fs)	DEL	Pathogenic/Likely Pathogenic	188951	rs397515378	GRCh37: 8:63978528-63978528 GRCh38: 8:63065969-63065969
10	TTPA	NM_000370.3(TTPA):c.552G>A (p.Thr184=)	SNV	Pathogenic/Likely Pathogenic	374211	rs181109321	GRCh37: 8:63978463-63978463 GRCh38: 8:63065904-63065904
11	TTPA	NM_000370.3(TTPA):c.2T>A (p.Met1Lys)	SNV	Likely Pathogenic	371454	rs786204758	GRCh37: 8:63998579-63998579 GRCh38: 8:63086020-63086020
12	TTPA	NM_000370.3(TTPA):c.575G>A (p.Arg192His)	SNV	Likely Pathogenic	9140	rs121917850	GRCh37: 8:63976853-63976853 GRCh38: 8:63064294-63064294
13	TTPA	NM_000370.3(TTPA):c.438_439delinsCGATCACAGATGTGTA (p.Glu146fs)	INDEL	Likely Pathogenic	1725231		GRCh37: 8:63978576-63978577 GRCh38: 8:63066017-63066018
14	TTPA	NM_000370.3(TTPA):c.467_469delinsT (p.Ala156fs)	INDEL	Likely Pathogenic	1725390		GRCh37: 8:63978546-63978548 GRCh38: 8:63065987-63065989
15	TTPA	NM_000370.3(TTPA):c.148delinsATG (p.Ser50fs)	INDEL	Likely Pathogenic	1725841		GRCh37: 8:63998433-63998433 GRCh38: 8:63085874-63085874
16	TTPA	NM_000370.3(TTPA):c.88_118del (p.Ala30fs)	DEL	Likely Pathogenic	550204	rs1554525125	GRCh37: 8:63998463-63998493 GRCh38: 8:63085904-63085934
17	TTPA	NM_000370.3(TTPA):c.2T>C (p.Met1Thr)	SNV	Likely Pathogenic	189186	rs786204758	GRCh37: 8:63998579-63998579 GRCh38: 8:63086020-63086020
18	TTPA	NM_000370.3(TTPA):c.83_105del (p.Leu28fs)	DEL	Likely Pathogenic	558725	rs1554525128	GRCh37: 8:63998476-63998498 GRCh38: 8:63085917-63085939
19	TTPA	NM_000370.3(TTPA):c.339del (p.Val114fs)	DEL	Likely Pathogenic	633013	rs1563363293	GRCh37: 8:63985513-63985513 GRCh38: 8:63072954-63072954
20	TTPA	NM_000370.3(TTPA):c.172G>C (p.Ala58Pro)	SNV	Likely Pathogenic	802413	rs982650476	GRCh37: 8:63998409-63998409 GRCh38: 8:63085850-63085850
21	TTPA	NM_000370.3(TTPA):c.313A>T (p.Arg105Ter)	SNV	Likely Pathogenic	370354	rs1057516423	GRCh37: 8:63985539-63985539 GRCh38: 8:63072980-63072980
22	TTPA	NM_000370.3(TTPA):c.441del (p.Glu148fs)	DEL	Likely Pathogenic	371663	rs1057517448	GRCh37: 8:63978574-63978574 GRCh38: 8:63066015-63066015
23	TTPA	NM_000370.3(TTPA):c.13C>T (p.Arg5Ter)	SNV	Likely Pathogenic	370311	rs1008240677	GRCh37: 8:63998568-63998568 GRCh38: 8:63086009-63086009
24	TTPA	NM_000370.3(TTPA):c.205-2A>G	SNV	Likely Pathogenic	370950	rs758349851	GRCh37: 8:63985649-63985649 GRCh38: 8:63073090-63073090
25	TTPA	NM_000370.3(TTPA):c.227_229delinsATT (p.Trp76_Arg77delinsTyrTer)	INDEL	Likely Pathogenic	551293	rs1554524061	GRCh37: 8:63985623-63985625 GRCh38: 8:63073064-63073066
26	TTPA	NM_000370.3(TTPA):c.557C>A (p.Ser186Ter)	SNV	Likely Pathogenic	557235	rs1554605498	GRCh37: 8:63976871-63976871 GRCh38: 8:63064312-63064312
27	TTPA	NM_000370.3(TTPA):c.1A>T (p.Met1Leu)	SNV	Likely Pathogenic	557555	rs1408863841	GRCh37: 8:63998580-63998580 GRCh38: 8:63086021-63086021
28	TTPA	NM_000370.3(TTPA):c.358G>A (p.Ala120Thr)	SNV	Conflicting Interpretations Of Pathogenicity	65591	rs143010236	GRCh37: 8:63985494-63985494 GRCh38: 8:63072935-63072935
29	TTPA	NM_000370.3(TTPA):c.661C>T (p.Arg221Trp)	SNV	Conflicting Interpretations Of Pathogenicity	65597	rs35916840	GRCh37: 8:63976767-63976767 GRCh38: 8:63064208-63064208
30	TTPA	NM_000370.3(TTPA):c.635C>A (p.Pro212Gln)	SNV	Uncertain Significance	911007	rs141163645	GRCh37: 8:63976793-63976793 GRCh38: 8:63064234-63064234
31	TTPA	NM_000370.3(TTPA):c.254_259dup (p.Asp86_Leu87insProAsp)	DUP	Uncertain Significance	556751	rs1554524054	GRCh37: 8:63985592-63985593 GRCh38: 8:63073033-63073034
32	TTPA	NM_000370.3(TTPA):c.452G>A (p.Arg151Gln)	SNV	Uncertain Significance	363561	rs150710403	GRCh37: 8:63978563-63978563 GRCh38: 8:63066004-63066004
33	TTPA	NM_000370.3(TTPA):c.175C>T (p.Arg59Trp)	SNV	Uncertain Significance	65589	rs397515522	GRCh37: 8:63998406-63998406 GRCh38: 8:63085847-63085847
34	TTPA	NM_000370.3(TTPA):c.558A>G (p.Ser186=)	SNV	Uncertain Significance	586911	rs774283073	GRCh37: 8:63976870-63976870 GRCh38: 8:63064311-63064311
35	TTPA	NM_000370.3(TTPA):c.522C>T (p.Ser174=)	SNV	Uncertain Significance	911008	rs772020906	GRCh37: 8:63978493-63978493 GRCh38: 8:63065934-63065934
36	TTPA	NM_000370.3(TTPA):c.358+15A>G	SNV	Uncertain Significance	911009	rs371592549	GRCh37: 8:63985479-63985479 GRCh38: 8:63072920-63072920
37	TTPA	NM_000370.3(TTPA):c.202C>A (p.Arg68=)	SNV	Uncertain Significance	912240	rs973874631	GRCh37: 8:63998379-63998379 GRCh38: 8:63085820-63085820
38	TTPA	NM_000370.3(TTPA):c.36G>T (p.Pro12=)	SNV	Uncertain Significance	724632	rs773911591	GRCh37: 8:63998545-63998545 GRCh38: 8:63085986-63085986
39	TTPA	NM_000370.3(TTPA):c.355A>G (p.Ile119Val)	SNV	Uncertain Significance	727159	rs766200402	GRCh37: 8:63985497-63985497 GRCh38: 8:63072938-63072938
40	TTPA	NM_000370.3(TTPA):c.117C>T (p.Gly39=)	SNV	Uncertain Significance	754525	rs750576019	GRCh37: 8:63998464-63998464 GRCh38: 8:63085905-63085905
41	TTPA	NM_000370.3(TTPA):c.123G>A (p.Pro41=)	SNV	Uncertain Significance	991598	rs1368032681	GRCh37: 8:63998458-63998458 GRCh38: 8:63085899-63085899
42	TTPA	NM_000370.3(TTPA):c.131C>T (p.Pro44Leu)	SNV	Uncertain Significance	1006523	rs928983374	GRCh37: 8:63998450-63998450 GRCh38: 8:63085891-63085891
43	TTPA	NM_000370.3(TTPA):c.552G>T (p.Thr184=)	SNV	Uncertain Significance	557815	rs181109321	GRCh37: 8:63978463-63978463 GRCh38: 8:63065904-63065904
44	TTPA	NM_000370.3(TTPA):c.-1C>T	SNV	Uncertain Significance	557866	rs1349901379	GRCh37: 8:63998581-63998581 GRCh38: 8:63086022-63086022
45	TTPA	NM_000370.3(TTPA):c.*735T>C	SNV	Uncertain Significance	363548	rs886063064	GRCh37: 8:63973076-63973076 GRCh38: 8:63060517-63060517
46	TTPA	NM_000370.3(TTPA):c.*554C>T	SNV	Uncertain Significance	363551	rs576595274	GRCh37: 8:63973257-63973257 GRCh38: 8:63060698-63060698
47	TTPA	NM_000370.3(TTPA):c.807T>A (p.Tyr269Ter)	SNV	Uncertain Significance	556573	rs1554605276	GRCh37: 8:63973841-63973841 GRCh38: 8:63061282-63061282
48	TTPA	NM_000370.3(TTPA):c.*578T>C	SNV	Uncertain Significance	363550	rs886063065	GRCh37: 8:63973233-63973233 GRCh38: 8:63060674-63060674
49	TTPA	NM_000370.3(TTPA):c.*1365A>C	SNV	Uncertain Significance	363539	rs181348477	GRCh37: 8:63972446-63972446 GRCh38: 8:63059887-63059887
50	TTPA	NM_000370.3(TTPA):c.663+10A>G	SNV	Uncertain Significance	363559	rs374903020	GRCh37: 8:63976755-63976755 GRCh38: 8:63064196-63064196

UniProtKB/Swiss-Prot genetic disease variations for Ataxia with Vitamin E Deficiency:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	TTPA	p.His101Gln	VAR_005668	rs121917849
2	TTPA	p.Arg192His	VAR_007858	rs121917850
3	TTPA	p.Arg59Trp	VAR_022388	rs397515522
4	TTPA	p.Ala120Thr	VAR_022389	rs143010236
5	TTPA	p.Glu141Lys	VAR_022390	rs397515524
6	TTPA	p.Arg221Trp	VAR_022391	rs35916840
7	TTPA	p.Gly246Arg	VAR_022392	rs397515526