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AVED
MCID: ATX019
MIFTS: 42

Ataxia with Vitamin E Deficiency (AVED)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Ataxia with Vitamin E Deficiency

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MalaCards integrated aliases for Ataxia with Vitamin E Deficiency:

Name: Ataxia with Vitamin E Deficiency 24 52 25 71
Ataxia with Isolated Vitamin E Deficiency 24 52 25
Familial Isolated Vitamin E Deficiency 24 52 25
Friedreich-Like Ataxia 24 52 25
Aved 24 52 25
Friedreich Ataxia Phenotype with Selective Vitamin E Deficiency 25
Friedreich-Like Ataxia with Selective Vitamin E Deficiency 52
Familial Isolated Deficiency of Vitamin E 52
Ataxia, with Vitamin E Deficiency 39
Isolated Vitamin E Deficiency 52
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
Anatomical: Eye diseases Neuronal diseases
See all MalaCards categories (disease lists)


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Summaries for Ataxia with Vitamin E Deficiency

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NIH Rare Diseases : 52 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 carbamide peroxide and Diclofenac 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
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Related Diseases for Ataxia with Vitamin E Deficiency

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Diseases related to Ataxia with Vitamin E Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 347)
# Related Disease Score Top Affiliating Genes
1 atrioventricular block 12.3
2 vitamin e, familial isolated deficiency of 12.1
3 third-degree atrioventricular block 12.0
4 aortic valve disease 2 11.8
5 first-degree atrioventricular block 11.8
6 atrial septal defect 7 with or without atrioventricular conduction defects 11.8
7 second-degree atrioventricular block 11.7
8 dystonia 11, myoclonic 11.4
9 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 11.4
10 cerebellar ataxia, early-onset, with retained tendon reflexes 11.4
11 spastic ataxia, charlevoix-saguenay type 11.4
12 anemia, sideroblastic, and spinocerebellar 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 wolff-parkinson-white syndrome 10.4
30 friedreich ataxia 10.4
31 mitral valve insufficiency 10.3
32 dilated cardiomyopathy 10.3
33 atrial standstill 1 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 dystonia 10.2
40 ventricular fibrillation, paroxysmal familial, 1 10.2
41 heart septal defect 10.2
42 spasticity 10.2
43 heart disease 10.2
44 oral candidiasis 10.2
45 long qt syndrome 10.2
46 end stage renal disease 10.2
47 posttransplant acute limbic encephalitis 10.2
48 myocardial infarction 10.2
49 perching syndrome 10.2
50 axonal neuropathy 10.1

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



Diseases related to Ataxia with Vitamin E Deficiency
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Symptoms & Phenotypes for Ataxia with Vitamin E Deficiency

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Human phenotypes related to Ataxia with Vitamin E Deficiency:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 muscle weakness 31 hallmark (90%) HP:0001324
2 abnormal pyramidal sign 31 hallmark (90%) HP:0007256
3 areflexia 31 hallmark (90%) HP:0001284
4 scoliosis 31 frequent (33%) HP:0002650
5 gait disturbance 31 frequent (33%) HP:0001288
6 sensory neuropathy 31 frequent (33%) HP:0000763
7 nystagmus 31 frequent (33%) HP:0000639
8 dysarthria 31 frequent (33%) HP:0001260
9 dysmetria 31 frequent (33%) HP:0001310
10 nyctalopia 31 frequent (33%) HP:0000662
11 pes cavus 31 frequent (33%) HP:0001761
12 dysdiadochokinesis 31 frequent (33%) HP:0002075
13 visual impairment 31 occasional (7.5%) HP:0000505
14 developmental regression 31 occasional (7.5%) HP:0002376
15 abnormality of retinal pigmentation 31 occasional (7.5%) HP:0007703
16 abnormality of visual evoked potentials 31 occasional (7.5%) HP:0000649
17 hypertonia 31 occasional (7.5%) HP:0001276
18 hypertrophic cardiomyopathy 31 occasional (7.5%) HP:0001639
19 arrhythmia 31 occasional (7.5%) HP:0011675
20 hemiplegia/hemiparesis 31 occasional (7.5%) HP:0004374
21 skeletal muscle atrophy 31 occasional (7.5%) HP:0003202
22 tremor 31 occasional (7.5%) HP:0001337
23 diabetes mellitus 31 occasional (7.5%) HP:0000819
24 mental deterioration 31 occasional (7.5%) HP:0001268
25 dystonia 31 occasional (7.5%) HP:0001332

UMLS symptoms related to Ataxia with Vitamin E Deficiency:


ataxia
Sources

Drugs & Therapeutics for Ataxia with Vitamin E Deficiency

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

(show top 50) (show all 1574)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
carbamide peroxide Approved Phase 4 124-43-6
2
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
3
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
4
Latanoprost Approved, Investigational Phase 4 130209-82-4 5311221 5282380
5
Bromhexine Approved Phase 4 3572-43-8
6
Famotidine Approved Phase 4 76824-35-6 3325
7
Haloperidol Approved Phase 4 52-86-8 3559
8
Oxcarbazepine Approved Phase 4 28721-07-5 34312
9
Linagliptin Approved Phase 4 668270-12-0 10096344
10
Clonidine Approved Phase 4 4205-90-7 2803
11
Toremifene Approved, Investigational Phase 4 89778-26-7 3005573
12
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
13
Bacitracin Approved, Vet_approved Phase 4 1405-87-4 439542 10909430
14
Eprosartan Approved Phase 4 133040-01-4 5281037
15
Trandolapril Approved Phase 4 87679-37-6 5484727
16
Fosinopril Approved Phase 4 98048-97-6 55891
17
Quinapril Approved, Investigational Phase 4 85441-61-8 54892
18
Benazepril Approved, Investigational Phase 4 86541-75-5 5362124
19
Zofenopril Approved Phase 4 81872-10-8
20
Vancomycin Approved Phase 4 1404-90-6 14969 441141
21
Peginterferon alfa-2a Approved, Investigational Phase 4 198153-51-4 5360545
22
Lincomycin Approved, Vet_approved Phase 4 154-21-2 656509
23
Levetiracetam Approved Phase 4 102767-28-2 441341
24
Alverine Approved, Investigational Phase 4 150-59-4 3678
25
Mebeverine Approved, Investigational Phase 4 3625-06-7 62887
26
Teicoplanin Approved, Investigational Phase 4 61036-62-2
27
Tigecycline Approved Phase 4 220620-09-7 5282044
28
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
29
Insulin aspart Approved Phase 4 116094-23-6 16132418
30
Sumatriptan Approved, Investigational Phase 4 103628-46-2 5358
31
Daunorubicin Approved Phase 4 20830-81-3 30323
32
Levonorgestrel Approved, Investigational Phase 4 797-63-7, 17489-40-6 13109
33
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
34
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
35
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
36
Daptomycin Approved, Investigational Phase 4 103060-53-3 16129629
37
Meloxicam Approved, Vet_approved Phase 4 71125-38-7 54677470 5281106
38
Varenicline Approved, Investigational Phase 4 249296-44-4 5310966
39
Udenafil Approved, Investigational Phase 4 268203-93-6 6918523
40
Fexofenadine Approved, Investigational Phase 4 83799-24-0 3348
41
Ibuprofen Approved Phase 4 15687-27-1 3672
42
Ephedrine Approved Phase 4 299-42-3 9294
43
Pseudoephedrine Approved Phase 4 90-82-4 7028
44
Retapamulin Approved Phase 4 224452-66-8 6918462
45 sodium fluoride Approved Phase 4 7681-49-4
46
Glycerol Approved, Investigational Phase 4 56-81-5 753
47
Codeine Approved, Illicit Phase 4 76-57-3 5284371
48
Phenylephrine Approved Phase 4 59-42-7 6041
49
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
50
Mepivacaine Approved, Vet_approved Phase 4 96-88-8 4062

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 Immune Response to High-Dose vs. Standard Dose Influenza Vaccine Unknown status NCT02297542 Phase 4
7 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)
8 Amiodarone Prophylaxis for Atrial Fibrillation in Patients Undergoing Surgery for Lung Cancer: A Controlled, Randomized, Double Blinded Trial Unknown status NCT00724581 Phase 4 Amiodarone
9 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
10 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
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 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
14 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
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 Prospective Comparative Study of the Efficacy of Common Antipyretic Treatments in Febrile Children Unknown status NCT02294071 Phase 4 Ibuprofen;Acetaminophen
17 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
18 NK Activity Modulation by Intravenous Lidocaine During Laparoscopic Colorectal Surgery Unknown status NCT01841294 Phase 4 Intravenous Lidocaine;Normal saline infusion
19 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
20 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
21 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
22 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
23 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
24 Double Blind, Placebo-Controlled Trial of THC as add-on Therapy for PTSD Unknown status NCT00965809 Phase 4 Tetrahydrocannabinol
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 Intracoronary Brachytherapy for Recurrent Restenosis After Multiple Drug-Eluting Stents. Short Title: Scripps V Unknown status NCT00714545 Phase 4
28 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
29 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
30 Evaluation of the Efficacy of Exparel Delivered Into the Hip Capsule During Hemiarthroplasty Unknown status NCT03502018 Phase 4 Bupivacaine liposome;Saline
31 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
32 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
33 Glibenclamide in Aneurysmatic Subarachnoid Hemorrhage: A Prospective and Randomized Study Unknown status NCT03569540 Phase 4 Glibenclamide
34 The Effect of Bupivacaine (Marcaine) in Reducing Early Post Tonsillectomy Pain Unknown status NCT01582022 Phase 4 Bupivacaine;normal saline
35 Is There an Adverse Drug Reaction Between Renin-Angiotensin System Blockade and Inhaled Anesthetics? - A Pilot Study. Optional Deoxyribo-Nucleic Acid Donation for the Study of Hypertension. Unknown status NCT01715584 Phase 4
36 Immunosuppression in Renal Transplantation in The Elderly: Time to Rethink. - nEverOld Study Unknown status NCT01631058 Phase 4 Everolimus
37 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
38 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
39 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
40 G-CSF Supplemented Medium for IVF Embryo Culture in Patients Undergoing IVF Unknown status NCT02651285 Phase 4
41 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
42 The Efficacy and Safety of Nicotinic Acid in the Hemodialysis Patients With Hyperphosphatemia Unknown status NCT02836184 Phase 4 Nicotinic Acids;Calcium Carbonate
43 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
44 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
45 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
46 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
47 The Effect of no Muscle Relaxant Versus Reduced-dose Rocuronium on the Anesthetic Condition With Fentanyl in Children Undergoing Adenotonsillectomy Unknown status NCT02467595 Phase 4 Rocuronium bromide 0.15 mg kg-1;Rocuronium bromide 0.3 mg kg-1;Fentanyl;Propofol;Sevoflurane
48 An Open-label,Multicenter Randomised Study of CTOP/ITE/MTX Compared With CHOP as the First-line Therapy for the New Diagnosed Young Patients With T Cell Non-hodgkin Lymphoma Unknown status NCT01746992 Phase 4 Cyclophosphamide 750mg/m2;Vincristine 1.4mg/m2;Doxorubicin 50mg/m2;prednisone 60mg/m2;ifosfamide 2000mg/m2;pirarubicin 50mg/m2;pirarubicin 25mg/m2;Etoposide phosphate 100mg/m2;methotrexate 1500mg/m2
49 Pharmacokinetics Variability of Ceftriaxone in Septic ICU Patients Unknown status NCT00449800 Phase 4 ceftriaxone
50 Electroclinical Effect of Diazepam and Steroid in Patients With Benign Childhood Epilepsy With Centrotemporal Spikes Unknown status NCT03490487 Phase 4 conventional antiepileptic drugs;oral steroid;Diazepam

Search NIH Clinical Center for Ataxia with Vitamin E Deficiency

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Genetic Tests for Ataxia with Vitamin E Deficiency

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Anatomical Context for Ataxia with Vitamin E Deficiency

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

40
Breast, Testes, Lung, Brain, Heart, Prostate, Bone
Sources

Publications for Ataxia with Vitamin E Deficiency

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Articles related to Ataxia with Vitamin E Deficiency:

(show top 50) (show all 107)
# Title Authors PMID Year
1
Ataxia with Vitamin E Deficiency May Present with Cervical Dystonia. 24 61
27274910 2016
2
Ataxia with vitamin e deficiency in norway. 61 24
25614784 2015
3
Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency. 61 24
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. 24 61
19440741 2010
5
Ataxia with vitamin E deficiency associated with deafness. 61 24
19102053 2008
6
Biochemical consequences of heritable mutations in the alpha-tocopherol transfer protein. 61 24
16819822 2006
7
Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients. 61 24
15953402 2005
8
Prevalence of inherited ataxias in the province of Padua, Italy. 61 24
15297793 2004
9
Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. 61 24
15300460 2004
10
Crystal structure of human alpha-tocopherol transfer protein bound to its ligand: implications for ataxia with vitamin E deficiency. 61 24
14657365 2003
11
Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families. 61 24
12039660 2002
12
Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency. 61 24
11554913 2001
13
Ataxia with vitamin E deficiency: biochemical effects of malcompliance with vitamin E therapy. 24 61
11094124 2000
14
Ataxia caused by mutations in the alpha-tocopherol transfer protein gene. 61 24
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. 24 61
10082886 1999
16
Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. 24 61
9463307 1998
17
Friedreich's ataxia with isolated vitamin E deficiency: a neuropathological study of a Tunisian patient. 24 61
9194904 1997
18
Vitamin E is essential for Purkinje neuron integrity. 24
24342566 2014
19
Vitamin E. 24
22585906 2012
20
Hepatic α-tocopherol transfer protein: ligand-induced protection from proteasomal degradation. 24
20828164 2010
21
Mechanisms of genetically-based resistance to malaria. 24
20655368 2010
22
Alpha-tocopherol transfer protein disruption confers resistance to malarial infection in mice. 24
20403155 2010
23
alpha-Tocopherol transfer protein inhibition is effective in the prevention of cerebral malaria in mice. 24
19923370 2010
24
Localization of alpha-tocopherol transfer protein in trophoblast, fetal capillaries' endothelium and amnion epithelium of human term placenta. 24
15190938 2004
25
Molecular determinants of heritable vitamin E deficiency. 24
15065857 2004
26
Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse. 24
14556008 2003
27
The molecular basis of vitamin E retention: structure of human alpha-tocopherol transfer protein. 24
12899840 2003
28
Human placental trophoblast cells express alpha-tocopherol transfer protein. 24
12744919 2003
29
Incorporation of deuterated RRR- or all-rac-alpha-tocopherol in plasma and tissues of alpha-tocopherol transfer protein--null mice. 24
11864863 2002
30
Urinary alpha-tocopherol metabolites in alpha-tocopherol transfer protein-deficient patients. 24
11013295 2000
31
A novel human tocopherol-associated protein: cloning, in vitro expression, and characterization. 24
10829015 2000
32
Postmortem study of ataxia with retinitis pigmentosa by mutation of the alpha-tocopherol transfer protein gene. 24
10727494 2000
33
Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjögren syndrome. 24
10665502 2000
34
Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency. 24
9931538 1999
35
Localization of alpha-tocopherol transfer protein in rat brain. 24
9855364 1998
36
Crystal structure of the Saccharomyces cerevisiae phosphatidylinositol-transfer protein. 24
9461221 1998
37
Effect of plasma alpha-tocopherol on leukotriene E4 excretion in genetic vitamin E deficiency. 24
9266396 1997
38
Affinity for alpha-tocopherol transfer protein as a determinant of the biological activities of vitamin E analogs. 24
9199513 1997
39
Ataxia with isolated vitamin E deficiency in four siblings. 24
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. 24
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. 24
8643598 1996
42
Total radical trapping antioxidant potential (TRAP) and exercise. 24
8731567 1996
43
Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency. 24
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. 24
8747477 1995
45
Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein. 24
7566022 1995
46
Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. 24
7719340 1995
47
Familial isolated vitamin E deficiency. Extensive study of a large family with a 5-year therapeutic follow-up. 24
7474901 1995
48
Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. 24
8252047 1993
49
Primary structure of alpha-tocopherol transfer protein from rat liver. Homology with cellular retinaldehyde-binding protein. 24
8349655 1993
50
Impaired discrimination between stereoisomers of alpha-tocopherol in patients with familial isolated vitamin E deficiency. 24
8429255 1993
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Variations for Ataxia with Vitamin E Deficiency

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Expression for Ataxia with Vitamin E Deficiency

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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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Sources for Ataxia with Vitamin E Deficiency

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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