AVED
MCID: ATX019
MIFTS: 46

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 72
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:



External Ids:

UMLS 72 C1848533

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 atrioventricular block and vitamin e, familial isolated deficiency of, and has symptoms including ataxia An important gene associated with Ataxia with Vitamin E Deficiency is TTPA (Alpha Tocopherol Transfer Protein). The drugs Epinephrine and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include breast, testes and lung, and related phenotypes are muscle weakness and abnormal pyramidal sign

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 346)
# Related Disease Score Top Affiliating Genes
1 atrioventricular block 12.2
2 vitamin e, familial isolated deficiency of 12.1
3 third-degree atrioventricular block 12.0
4 aortic valve disease 2 11.8
5 atrial septal defect 7 with or without atrioventricular conduction defects 11.7
6 second-degree atrioventricular block 11.7
7 first-degree atrioventricular block 11.5
8 dystonia 11, myoclonic 11.4
9 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.4
10 spastic ataxia, charlevoix-saguenay type 11.4
11 anemia, sideroblastic, and spinocerebellar ataxia 11.4
12 harding ataxia 11.4
13 right atrial isomerism 11.4
14 atrial heart septal defect 7 11.2
15 progressive familial heart block 11.1
16 congenitally corrected transposition of the great arteries 11.1
17 his bundle tachycardia 11.1
18 ataxia and polyneuropathy, adult-onset 10.6
19 progressive familial heart block, type ia 10.6
20 syncope 10.6
21 sick sinus syndrome 10.5
22 atrial fibrillation 10.5
23 progressive familial heart block, type ib 10.5
24 right bundle branch block 10.5
25 left bundle branch hemiblock 10.4
26 congestive heart failure 10.4
27 hair whorl 10.4
28 sinoatrial node disease 10.4
29 friedreich ataxia 1 10.4
30 wolff-parkinson-white syndrome 10.4
31 atrial standstill 1 10.3
32 mitral valve insufficiency 10.3
33 dilated cardiomyopathy 10.3
34 arteriovenous malformation 10.3
35 aneurysm 10.3
36 autosomal recessive disease 10.3
37 lyme disease 10.2
38 hypertriglyceridemia, familial 10.2
39 myocardial infarction 10.2
40 ventricular fibrillation, paroxysmal familial, 1 10.2
41 heart disease 10.2
42 heart septal defect 10.2
43 end stage renal failure 10.2
44 spasticity 10.2
45 long qt syndrome 10.2
46 transposition of the great arteries 10.2
47 posttransplant acute limbic encephalitis 10.1
48 axonal neuropathy 10.1
49 abetalipoproteinemia 10.1
50 aceruloplasminemia 10.1

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

UMLS symptoms related to Ataxia with Vitamin E Deficiency:


ataxia

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 1650)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
2
Racepinephrine Approved Phase 4 329-65-7 838
3
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
4
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
5
Glucagon Approved Phase 4 16941-32-5
6
Mycophenolic acid Approved Phase 4 24280-93-1 446541
7
Famotidine Approved Phase 4 76824-35-6 3325
8
alemtuzumab Approved, Investigational Phase 4 216503-57-0
9
Linagliptin Approved Phase 4 668270-12-0 10096344
10
Toremifene Approved, Investigational Phase 4 89778-26-7 3005573
11
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
12
Bacitracin Approved, Vet_approved Phase 4 1405-87-4 439542 10909430
13
Vancomycin Approved Phase 4 1404-90-6 441141 14969
14
Lincomycin Approved, Vet_approved Phase 4 154-21-2 656509
15
Bromhexine Approved Phase 4 3572-43-8
16
Alverine Approved, Investigational Phase 4 150-59-4 3678
17
Mebeverine Approved, Investigational Phase 4 3625-06-7 62887
18
Teicoplanin Approved, Investigational Phase 4 61036-62-2
19
Tigecycline Approved Phase 4 220620-09-7 5282044
20
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
21
Sumatriptan Approved, Investigational Phase 4 103628-46-2 5358
22
Nebivolol Approved, Investigational Phase 4 152520-56-4, 118457-14-0, 99200-09-6 71301
23
Daunorubicin Approved Phase 4 20830-81-3 30323
24
Udenafil Approved, Investigational Phase 4 268203-93-6 6918523
25
Meloxicam Approved, Vet_approved Phase 4 71125-38-7 5281106 54677470
26
Alendronate Approved Phase 4 66376-36-1, 121268-17-5 2088
27
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
28
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
29
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
30
Varenicline Approved, Investigational Phase 4 249296-44-4 5310966
31
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
32
Fexofenadine Approved, Investigational Phase 4 83799-24-0 3348
33
Retapamulin Approved Phase 4 224452-66-8 6918462
34
Mepivacaine Approved, Vet_approved Phase 4 96-88-8 4062
35
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
36
Phenylephrine Approved Phase 4 59-42-7 6041
37
Codeine Approved, Illicit Phase 4 76-57-3 5284371
38
Ciclopirox Approved, Investigational Phase 4 29342-05-0 2749
39
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
40
Sorbitol Approved Phase 4 50-70-4 5780
41
Bisacodyl Approved Phase 4 603-50-9
42
Cetylpyridinium Approved Phase 4 7773-52-6
43
Fenofibrate Approved Phase 4 49562-28-9 3339
44
Adefovir dipivoxil Approved, Investigational Phase 4 142340-99-6 60871
45
Ketoconazole Approved, Investigational Phase 4 65277-42-1 47576
46
Zidovudine Approved Phase 4 30516-87-1 35370
47
Simethicone Approved Phase 4 8050-81-5
48
Dimenhydrinate Approved Phase 4 523-87-5 441281
49
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
50
Azathioprine Approved Phase 4 446-86-6 2265

Interventional clinical trials:

(show top 50) (show all 10000)
# Name Status NCT ID Phase Drugs
1 Kinetics of the Finasteride Prostate Induced Apoptosis Unknown status NCT00130767 Phase 4 finasteride
2 0.3% Sodium Hyaluronate in the Treatment of Dry Eye of Diabetic Patients Unknown status NCT02595606 Phase 4 0.3% Sodium Hyaluronate
3 A Randomised Control Trial to Determine the Effectiveness of Sensory Stimulation Program in Reducing the Length of Time Spent by Severely Brain Injured Patients in a Vegetative State in the Acute Hospital Environment Unknown status NCT00163878 Phase 4
4 Filgrastim for Treatment of Premature Ovarian Insufficiency: Randomized Clinical Trial Unknown status NCT02783937 Phase 4 Saline
5 Effectiveness of Oral Midazolam for Sedation in Patients Undergoing Upper Gastrointestinal Endoscopy Unknown status NCT01990937 Phase 4 Oral midazolam
6 Amiodarone Prophylaxis for Atrial Fibrillation in Patients Undergoing Surgery for Lung Cancer: A Controlled, Randomized, Double Blinded Trial Unknown status NCT00724581 Phase 4 Amiodarone
7 Comparison of Efficacy, Safety and Anti-Inflammatory Effect Between Topical 0.05%Cyclosporine A Emulsion and REFRESH® in Patients With Moderate to Severe Dry Eyes Unknown status NCT00704275 Phase 4 0.05% cyclosporin eye drop
8 Impact of a Biological Glue (Evicel®) on the Peri Operative Bleeding in Total Knee Prothesis Surgery Unknown status NCT00983112 Phase 4 Human Fibrinogen and human thrombin (Evicel);Sodium Chlorure (Physiological saline)
9 Adding L-carnitine in Clomiphene Resistant Pco Improves the Quality of Ovulation and the Pregnancy Outcome,a Randomized Clinical Trial Unknown status NCT01665547 Phase 4 l-carnitine
10 Comparison of Stenting Versus Best Medical Therapy for Treatment of Ostial Renal Artery Stenosis: a Randomized Controlled Trial in Patients With Advanced Atherosclerosis. Unknown status NCT00711984 Phase 4
11 Effect of Perineural Dexmedetomidine on the ED50 Ropivacaine for Brachial Plexus Blocks in Pediatric Patients: a Randomized Trial Unknown status NCT02781246 Phase 4 perineural dexmedetomidine
12 METformin And Longevity (METAL): A Window of Opportunity Study Investigating Biological Effects of Metformin in Localised Prostate Cancer Unknown status NCT02511665 Phase 4 Metformin;Placebo
13 Artemether/ Lumefantrine: A Study of the Effect of Local Food on Pharmacokinetics of Lumefantrine and Population Pharmacokinetics of Lumefantrine Among Ugandan Children Unknown status NCT01944189 Phase 4
14 Prospective Comparative Study of the Efficacy of Common Antipyretic Treatments in Febrile Children Unknown status NCT02294071 Phase 4 Ibuprofen;Acetaminophen
15 Intervention Study Measuring Inflammatory Cytokine Levels in the Serum of Patients Who Underwent an Acute MI, and the Influence of Vitamin D on These Levels Unknown status NCT01115842 Phase 4 Vitamin D
16 CHUSPAN PAN BP Treatment of Polyarteritis Nodosa and Microscopic Polyangiitis Without Poor-Prognosis Factors a Prospective Randomized Study in 125 Patients Unknown status NCT00400075 Phase 4 azathioprine;cyclophosphamide
17 CHUSPAN SCS BP Treatment of Churg–Strauss Syndrome Without Poor-Prognosis Factors: a Prospective Randomized Study in 72 Patients. Unknown status NCT00399399 Phase 4 azathioprine;cyclophosphamide
18 Intracoronary Brachytherapy for Recurrent Restenosis After Multiple Drug-Eluting Stents. Short Title: Scripps V Unknown status NCT00714545 Phase 4
19 Effectiveness of the Lavage With 70% Alcohol Plus 0.5% Chlorhexidine Compared to 70% Alcohol for Chemical Matricectomy in the Surgical Treatment of Ingrown Toenails Unknown status NCT01844141 Phase 4 70% alcohol;70% alcohol - 0.5% clorhexidine
20 NK Activity Modulation by Intravenous Lidocaine During Laparoscopic Colorectal Surgery Unknown status NCT01841294 Phase 4 Intravenous Lidocaine;Normal saline infusion
21 Studies of Early Diabetic Glomerulopathy-the Relation Between Histopathology, Kidney Function and Metabolic Control. Natural History and Effect of ARB Unknown status NCT00328302 Phase 4 Candesartan;Placebo
22 Laparoscopic Roux-en-Y Gastric Bypass vs. Laparoscopic BPD-Duodenal Switch for Superobesity (BMI > 50 kg/m2)- A Randomized Clinical Trial Unknown status NCT00327912 Phase 4
23 Comparison Between the Analgesic Affects of Tramadol® and "Verbal Anesthesia" on Pain Management Associated With the Insertion of Jaydess® in Nulliparous Women Unknown status NCT02706509 Phase 4 Tramadol
24 Random Clinical Trial for Comparison of Efficacy and Safety of Simple Microfracture and Modified Microfracture Using Collagen in the Patients With Knee Cartilage Defects Unknown status NCT02539030 Phase 4
25 Conventional Fluorescein Sodium Dosage o.1ml/kg Compared With a Lower Fluorescein Sodium Dosage o.02ml/kg for the Detection of Gastric Intestinal Metaplasia in a High Risk Population: a Randomized Controlled Trial Unknown status NCT02534818 Phase 4 lower fluorescein sodium dosage 0.02ml/kg;conventional fluorescein sodium dosage 0.1ml/kg
26 This Clinical Trial Evaluated the Efficacy and Safety of a Modified Microfracture Using Collagen Compared to Those of a Simple Microfracture in Patients With Cartilage Defects in Their Ankles. Unknown status NCT02519881 Phase 4
27 Double Blind, Placebo-Controlled Trial of THC as add-on Therapy for PTSD Unknown status NCT00965809 Phase 4 Tetrahydrocannabinol
28 Evaluation of Adjuvant Endocrine Therapy for Operable ER-beta Positive, ER-alpha/PR Negative, Her-2 Negative Breast Cancer Patients Unknown status NCT02089854 Phase 4 Toremifene; Anastrozole
29 Close Kinect Chain Exercise With Kinesio Taping in the Management of Patellofemoral Pain Syndrome Unknown status NCT02241148 Phase 4 Acetaminophen 500mg
30 Esomeprazole or Famotidine in the Management of Aspirin Related Non-ulcer Dyspepsia - a Double Blind Randomized Control Study Unknown status NCT00978159 Phase 4 esomeprazole;Famotidine
31 Immunosuppression in Renal Transplantation in The Elderly: Time to Rethink. - nEverOld Study Unknown status NCT01631058 Phase 4 Everolimus
32 Patient-Centered Comparative Effectiveness Research (CER) Study of Home-based Interventions to Prevent CA-MRSA Infection Recurrence Unknown status NCT02566928 Phase 4 2% mupirocin ointment
33 The Effect of Bupivacaine (Marcaine) in Reducing Early Post Tonsillectomy Pain Unknown status NCT01582022 Phase 4 Bupivacaine;normal saline
34 The Efficacy and Safety of Nicotinic Acid in the Hemodialysis Patients With Hyperphosphatemia Unknown status NCT02836184 Phase 4 Nicotinic Acids;Calcium Carbonate
35 Combination or Sequential Therapy of Peginterferon Alfa-2a and Entecavir for Hepatitis B e Antigen-positive Patients With Chronic Hepatitis B Unknown status NCT01906580 Phase 4 Peg-IFNα-2a;Entecavir
36 A Double Blind Randomised Control Trial to Measure the Effect of the Addition of Clindamycin to Flucloxacillin for the Treatment of Limb Cellulitis Unknown status NCT01876628 Phase 4 Flucloxacillin and Clindamycin;Flucloxacillin and placebo
37 G-CSF Supplemented Medium for IVF Embryo Culture in Patients Undergoing IVF Unknown status NCT02651285 Phase 4
38 A Double-blind, Randomized, Post-marketing Surveillance to Evaluate the Efficacy of Intra-articular Collagen Injection in Patients With Knee Joint Pain Compared to Normal Saline Injection Unknown status NCT02539095 Phase 4
39 Mechanisms of Low Protein Diet Supplemented With α-ketoacids on Autophagy and Improving Muscle Wasting in Chronic Kidney Disease: the Role of Autophagy in Muscle Wasting Unknown status NCT02568020 Phase 4 keto-amino acids
40 A Multicenter Study to Evaluate the Efficacy of Yinzhihuang Oral Liquid on Indirect Bilirubin of Neonates With Glucose-6-phosphate Dehydrogenase Deficiency Unknown status NCT02594904 Phase 4 Yinzhihuang Oral Liquid
41 Study of Vitamin D2 Virus 1,25(OH)2-Vitamin D3 and Normal Protein Diet Virus Low Protein Diet in the Treatment of CKD-MBD and Malnutrition for Progressive CKD Patients Unknown status NCT02005302 Phase 4 1,25(OH)2 Vitamin D3;Vitamin D2
42 A Randomized Double-blind Study to Evaluate the Effect of Linagliptin on Pancreatic Beta Cell Function and Insulin Sensitivity in Patients With Type 2 Diabetes Mellitus on Metformin Monotherapy Unknown status NCT02097342 Phase 4 Linagliptin;Placebo;Voglibose
43 Study of the Molecular Mechanisms Underlying the Cross-neutralizing Capacity of AS04-adjuvanted HPV Vaccine (Cervarix®) in Comparison With the Aluminiumhydroxyphosphate Sulphate Adjuvanted HPV Vaccine (Gardasil®) Unknown status NCT01914367 Phase 4
44 SMALL BOWEL CLEANSING FOR CAPSULE ENDOSCOPY IN PEDIATRIC PATIENTS: A PROSPECTIVE RANDOMIZED SINGLE-BLINDED STUDY Unknown status NCT01783782 Phase 4 polyethylene glycol 4000 solution with simethicon;simethicon
45 Effect of Modified-release Compared to Conventional Hydrocortisone on Fatigue, Measured by Ecological Momentary Assessments; a Pilot Study. Unknown status NCT02282150 Phase 4 Hydrocortisone;Plenadren
46 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
47 The Effect of Music Over the Tolerance to Colonoscopy ¿Does it Reduce the Discomfort, the Anxiety and the Need of Sedation? Multicentric Randomized Controlled Trial. Unknown status NCT01285284 Phase 4
48 Anesthesia Induction With Propofol or Sevoflurane in Patients Undergoing Fiberoptic Intubation for Cervical Myelopathy: Effects on Heamodynamics Unknown status NCT01052337 Phase 4 anaesthetics: sevofluorane
49 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
50 A Study of the Utility of Botulinum Toxin Type A for Pain in Advanced Parkinson's Disease Double Blind Placebo Control Crossover Pilot Study Unknown status NCT02472210 Phase 4 Botulinum Toxin

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
Breast, Testes, Lung, Brain, Heart, Prostate, Bone

Publications for Ataxia with Vitamin E Deficiency

Articles related to Ataxia with Vitamin E Deficiency:

(show top 50) (show all 106)
# Title Authors PMID Year
1
Ataxia with Vitamin E Deficiency May Present with Cervical Dystonia. 38 4
27274910 2016
2
Ataxia with vitamin e deficiency in norway. 38 4
25614784 2015
3
Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency. 38 4
24369383 2014
4
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. 38 4
19440741 2010
5
Ataxia with vitamin E deficiency associated with deafness. 38 4
19102053 2008
6
Biochemical consequences of heritable mutations in the alpha-tocopherol transfer protein. 38 4
16819822 2006
7
Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients. 38 4
15953402 2005
8
Prevalence of inherited ataxias in the province of Padua, Italy. 38 4
15297793 2004
9
Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. 38 4
15300460 2004
10
Crystal structure of human alpha-tocopherol transfer protein bound to its ligand: implications for ataxia with vitamin E deficiency. 38 4
14657365 2003
11
Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families. 38 4
12039660 2002
12
Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency. 38 4
11554913 2001
13
Ataxia with vitamin E deficiency: biochemical effects of malcompliance with vitamin E therapy. 38 4
11094124 2000
14
Ataxia caused by mutations in the alpha-tocopherol transfer protein gene. 38 4
10896705 2000
15
Localization of alpha-tocopherol transfer protein in the brains of patients with ataxia with vitamin E deficiency and other oxidative stress related neurodegenerative disorders. 38 4
10082886 1999
16
Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. 38 4
9463307 1998
17
Friedreich's ataxia with isolated vitamin E deficiency: a neuropathological study of a Tunisian patient. 38 4
9194904 1997
18
Vitamin E is essential for Purkinje neuron integrity. 4
24342566 2014
19
Vitamin E. 4
22585906 2012
20
Mechanisms of genetically-based resistance to malaria. 4
20655368 2010
21
Hepatic α-tocopherol transfer protein: ligand-induced protection from proteasomal degradation. 4
20828164 2010
22
Alpha-tocopherol transfer protein disruption confers resistance to malarial infection in mice. 4
20403155 2010
23
alpha-Tocopherol transfer protein inhibition is effective in the prevention of cerebral malaria in mice. 4
19923370 2010
24
Localization of alpha-tocopherol transfer protein in trophoblast, fetal capillaries' endothelium and amnion epithelium of human term placenta. 4
15190938 2004
25
Molecular determinants of heritable vitamin E deficiency. 4
15065857 2004
26
Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse. 4
14556008 2003
27
The molecular basis of vitamin E retention: structure of human alpha-tocopherol transfer protein. 4
12899840 2003
28
Human placental trophoblast cells express alpha-tocopherol transfer protein. 4
12744919 2003
29
Incorporation of deuterated RRR- or all-rac-alpha-tocopherol in plasma and tissues of alpha-tocopherol transfer protein--null mice. 4
11864863 2002
30
Urinary alpha-tocopherol metabolites in alpha-tocopherol transfer protein-deficient patients. 4
11013295 2000
31
A novel human tocopherol-associated protein: cloning, in vitro expression, and characterization. 4
10829015 2000
32
Postmortem study of ataxia with retinitis pigmentosa by mutation of the alpha-tocopherol transfer protein gene. 4
10727494 2000
33
Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjögren syndrome. 4
10665502 2000
34
Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency. 4
9931538 1999
35
Localization of alpha-tocopherol transfer protein in rat brain. 4
9855364 1998
36
Crystal structure of the Saccharomyces cerevisiae phosphatidylinositol-transfer protein. 4
9461221 1998
37
Effect of plasma alpha-tocopherol on leukotriene E4 excretion in genetic vitamin E deficiency. 4
9266396 1997
38
Affinity for alpha-tocopherol transfer protein as a determinant of the biological activities of vitamin E analogs. 4
9199513 1997
39
Ataxia with isolated vitamin E deficiency in four siblings. 4
8972536 1996
40
Biodiscrimination of the eight alpha-tocopherol stereoisomers results in preferential accumulation of the four 2R forms in tissues and plasma of rats. 4
8857515 1996
41
The multidomain protein Trio binds the LAR transmembrane tyrosine phosphatase, contains a protein kinase domain, and has separate rac-specific and rho-specific guanine nucleotide exchange factor domains. 4
8643598 1996
42
Total radical trapping antioxidant potential (TRAP) and exercise. 4
8731567 1996
43
Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency. 4
8602747 1996
44
Monitoring of ubiquinol-10, ubiquinone-10, carotenoids, and tocopherols in neonatal plasma microsamples using high-performance liquid chromatography with coulometric electrochemical detection. 4
8747477 1995
45
Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein. 4
7566022 1995
46
Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. 4
7719340 1995
47
Familial isolated vitamin E deficiency. Extensive study of a large family with a 5-year therapeutic follow-up. 4
7474901 1995
48
Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. 4
8252047 1993
49
Primary structure of alpha-tocopherol transfer protein from rat liver. Homology with cellular retinaldehyde-binding protein. 4
8349655 1993
50
Impaired discrimination between stereoisomers of alpha-tocopherol in patients with familial isolated vitamin E deficiency. 4
8429255 1993

Variations for Ataxia with Vitamin E Deficiency

ClinVar genetic disease variations for Ataxia with Vitamin E Deficiency:

6 (show top 50) (show all 68)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TTPA NM_000370.3(TTPA): c.744del (p.Glu249fs) deletion Pathogenic rs397515377 8:63973904-63973904 8:63061345-63061345
2 TTPA NM_000370.3(TTPA): c.303T> G (p.His101Gln) single nucleotide variant Pathogenic rs121917849 8:63985549-63985549 8:63072990-63072990
3 TTPA NM_000370.3(TTPA): c.513_514insTT (p.Thr172fs) insertion Pathogenic rs397515379 8:63978501-63978502 8:63065942-63065943
4 TTPA NM_000370.3(TTPA): c.191A> G (p.Asp64Gly) single nucleotide variant Pathogenic rs397515523 8:63998390-63998390 8:63085831-63085831
5 TTPA NM_000370.3(TTPA): c.421G> A (p.Glu141Lys) single nucleotide variant Pathogenic rs397515524 8:63978594-63978594 8:63066035-63066035
6 TTPA NM_000370.3(TTPA): c.530_531delinsGTAAGT (p.Lys177fs) indel Pathogenic rs1554605631 8:63978484-63978485 8:63065925-63065926
7 TTPA NM_000370.3(TTPA): c.548T> C (p.Leu183Pro) single nucleotide variant Pathogenic rs397515525 8:63978467-63978467 8:63065908-63065908
8 TTPA NM_000370.3(TTPA): c.736G> C (p.Gly246Arg) single nucleotide variant Pathogenic rs397515526 8:63973912-63973912 8:63061353-63061353
9 TTPA NM_000370.3(TTPA): c.19del (p.Gln7fs) deletion Pathogenic rs760014795 8:63998562-63998562 8:63086003-63086003
10 TTPA NM_000370.3(TTPA): c.552+2T> A single nucleotide variant Pathogenic rs886040964 8:63978461-63978461 8:63065902-63065902
11 TTPA NM_000370.3(TTPA): c.205-1G> T single nucleotide variant Pathogenic rs886040963 8:63985648-63985648 8:63073089-63073089
12 TTPA NM_000370.3(TTPA): c.487del (p.Trp163fs) deletion Pathogenic/Likely pathogenic rs397515378 8:63978528-63978528 8:63065969-63065969
13 TTPA NM_000370.3(TTPA): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic/Likely pathogenic rs786204758 8:63998579-63998579 8:63086020-63086020
14 TTPA NM_000370.3(TTPA): c.400C> T (p.Arg134Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121917851 8:63978615-63978615 8:63066056-63066056
15 TTPA NM_000370.3(TTPA): c.575G> A (p.Arg192His) single nucleotide variant Likely pathogenic rs121917850 8:63976853-63976853 8:63064294-63064294
16 TTPA NM_000370.3(TTPA): c.2T> A (p.Met1Lys) single nucleotide variant Likely pathogenic rs786204758 8:63998579-63998579 8:63086020-63086020
17 TTPA NM_000370.3(TTPA): c.441del (p.Glu148fs) deletion Likely pathogenic rs1057517448 8:63978574-63978574 8:63066015-63066015
18 TTPA NM_000370.3(TTPA): c.313A> T (p.Arg105Ter) single nucleotide variant Likely pathogenic rs1057516423 8:63985539-63985539 8:63072980-63072980
19 TTPA NM_000370.3(TTPA): c.205-1G> C single nucleotide variant Likely pathogenic rs886040963 8:63985648-63985648 8:63073089-63073089
20 TTPA NM_000370.3(TTPA): c.205-2A> G single nucleotide variant Likely pathogenic rs758349851 8:63985649-63985649 8:63073090-63073090
21 TTPA NM_000370.3(TTPA): c.13C> T (p.Arg5Ter) single nucleotide variant Likely pathogenic rs1008240677 8:63998568-63998568 8:63086009-63086009
22 TTPA NM_000370.3(TTPA): c.552G> A (p.Thr184=) single nucleotide variant Likely pathogenic rs181109321 8:63978463-63978463 8:63065904-63065904
23 TTPA NM_000370.3(TTPA): c.1A> T (p.Met1Leu) single nucleotide variant Likely pathogenic rs1408863841 8:63998580-63998580 8:63086021-63086021
24 TTPA NM_000370.3(TTPA): c.557C> A (p.Ser186Ter) single nucleotide variant Likely pathogenic rs1554605498 8:63976871-63976871 8:63064312-63064312
25 TTPA NM_000370.3(TTPA): c.88_118del (p.Ala30fs) deletion Likely pathogenic rs1554525125 8:63998462-63998493 8:63085904-63085934
26 TTPA NM_000370.3(TTPA): c.83_105del (p.Leu28fs) deletion Likely pathogenic rs1554525128 8:63998475-63998498 8:63085917-63085939
27 TTPA NM_000370.3(TTPA): c.227_229delinsATT (p.Trp76_Arg77delinsTyrTer) indel Likely pathogenic rs1554524061 8:63985622-63985625 8:63073064-63073066
28 TTPA NM_000370.3(TTPA): c.339del (p.Val114fs) deletion Likely pathogenic 8:63985513-63985513 8:63072956-63072956
29 TTPA NM_000370.3(TTPA): c.358G> A (p.Ala120Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs143010236 8:63985494-63985494 8:63072935-63072935
30 TTPA NM_000370.3(TTPA): c.661C> T (p.Arg221Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs35916840 8:63976767-63976767 8:63064208-63064208
31 TTPA NM_000370.3(TTPA): c.175C> T (p.Arg59Trp) single nucleotide variant Uncertain significance rs397515522 8:63998406-63998406 8:63085847-63085847
32 TTPA NM_000370.3(TTPA): c.552G> T (p.Thr184=) single nucleotide variant Uncertain significance rs181109321 8:63978463-63978463 8:63065904-63065904
33 TTPA NM_000370.3(TTPA): c.-1C> T single nucleotide variant Uncertain significance rs1349901379 8:63998581-63998581 8:63086022-63086022
34 TTPA NM_000370.3(TTPA): c.807T> A (p.Tyr269Ter) single nucleotide variant Uncertain significance rs1554605276 8:63973841-63973841 8:63061282-63061282
35 TTPA NM_000370.3(TTPA): c.254_259dup (p.Leu87_His88insProAsp) duplication Uncertain significance rs1554524054 8:63985592-63985592 8:63073034-63073039
36 TTPA NM_000370.3(TTPA): c.452G> A (p.Arg151Gln) single nucleotide variant Uncertain significance rs150710403 8:63978563-63978563 8:63066004-63066004
37 TTPA NM_000370.3(TTPA): c.*1598C> T single nucleotide variant Uncertain significance rs886063059 8:63972213-63972213 8:63059654-63059654
38 TTPA NM_000370.3(TTPA): c.*1176_*1178ATA[1] short repeat Uncertain significance rs548084272 8:63972630-63972632 8:63060071-63060073
39 TTPA NM_000370.3(TTPA): c.*554C> T single nucleotide variant Uncertain significance rs576595274 8:63973257-63973257 8:63060698-63060698
40 TTPA NM_000370.3(TTPA): c.*292A> G single nucleotide variant Uncertain significance rs886063067 8:63973519-63973519 8:63060960-63060960
41 TTPA NM_000370.3(TTPA): c.616G> A (p.Val206Ile) single nucleotide variant Uncertain significance rs554118281 8:63976812-63976812 8:63064253-63064253
42 TTPA NM_000370.3(TTPA): c.*1441C> G single nucleotide variant Uncertain significance rs553317836 8:63972370-63972370 8:63059811-63059811
43 TTPA NM_000370.3(TTPA): c.*1394A> G single nucleotide variant Uncertain significance rs886063060 8:63972417-63972417 8:63059858-63059858
44 TTPA NM_000370.3(TTPA): c.*1164A> T single nucleotide variant Uncertain significance rs886063061 8:63972647-63972647 8:63060088-63060088
45 TTPA NM_000370.3(TTPA): c.*934C> T single nucleotide variant Uncertain significance rs776683493 8:63972877-63972877 8:63060318-63060318
46 TTPA NM_000370.3(TTPA): c.*932G> A single nucleotide variant Uncertain significance rs547975805 8:63972879-63972879 8:63060320-63060320
47 TTPA NM_000370.3(TTPA): c.*578T> C single nucleotide variant Uncertain significance rs886063065 8:63973233-63973233 8:63060674-63060674
48 TTPA NM_000370.3(TTPA): c.*452T> C single nucleotide variant Uncertain significance rs886063066 8:63973359-63973359 8:63060800-63060800
49 TTPA NM_000370.3(TTPA): c.*286C> G single nucleotide variant Uncertain significance rs886063068 8:63973525-63973525 8:63060966-63060966
50 TTPA NM_000370.3(TTPA): c.*776C> T single nucleotide variant Uncertain significance rs886063063 8:63973035-63973035 8:63060476-63060476

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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