AVED
MCID: ATX019
MIFTS: 44

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 25 20 43 6 71
Ataxia with Isolated Vitamin E Deficiency 25 20 43
Familial Isolated Vitamin E Deficiency 25 20 43
Friedreich-Like Ataxia 25 20 43
Aved 25 20 43
Friedreich Ataxia Phenotype with Selective Vitamin E Deficiency 43
Friedreich-Like Ataxia with Selective Vitamin E Deficiency 20
Familial Isolated Deficiency of Vitamin E 20
Ataxia, with Vitamin E Deficiency 39
Isolated Vitamin E Deficiency 20
Five 43

Characteristics:

GeneReviews:

25
Penetrance Aved shows nearly complete penetrance in individuals who are homozygous or compound heterozygous for a ttpa pathogenic variant.

Classifications:



Summaries for Ataxia with Vitamin E Deficiency

GARD : 20 Ataxia with vitamin E deficiency (AVED) is a progressive disease affecting motor control and movement. Symptoms of AVED include slurred speech (dysarthria), difficulty coordinating movements (ataxia), numbness in the hands and feet (peripheral neuropathy), and progressive leg weakness. Some affected individuals may experience vision loss due to damage to the back of the eye (retinitis pigmentosa). Symptoms typically begin during childhood or adolescence and worsen with age, resulting in the need for a wheelchair by early adulthood. AVED is caused by a mutation to the TTPA gene. When this gene is damaged, vitamin E cannot be distributed throughout the body. Vitamin E is important because it protects the cells of the neurological system (neurons) from dangerous molecules called free radicals. AVED is inherited in an autosomal recessive manner. Treatment for AVED includes vitamin E supplements, which will prevent AVED from developing if given before symptoms begin and may reverse some neurological symptoms if begun after AVED develops.

MalaCards based summary : Ataxia with Vitamin E Deficiency, also known as ataxia with isolated vitamin e deficiency, is related to vitamin e, familial isolated deficiency of and dystonia 11, myoclonic, and has symptoms including ataxia An important gene associated with Ataxia with Vitamin E Deficiency is TTPA (Alpha Tocopherol Transfer Protein). The drugs Latanoprost and Dronabinol have been mentioned in the context of this disorder. Affiliated tissues include prostate, liver and eye, and related phenotypes are abnormal pyramidal sign and muscle weakness

MedlinePlus Genetics : 43 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

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:

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

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 1103)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
2
Dronabinol Approved, Illicit Phase 4 1972-08-3 16078
3
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
4
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
5
Phenol Approved, Experimental Phase 4 108-95-2 996
6
Bacitracin Approved, Vet_approved Phase 4 1405-87-4 439542 10909430
7
Lactitol Approved, Investigational Phase 4 585-86-4 157355
8
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
9
Benazepril Approved, Investigational Phase 4 86541-75-5 5362124
10
Eprosartan Approved Phase 4 133040-01-4 5281037
11
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
12
Fosinopril Approved Phase 4 98048-97-6 55891
13
Ramipril Approved Phase 4 87333-19-5 5362129
14
Quinapril Approved, Investigational Phase 4 85441-61-8 54892
15
Olmesartan Approved, Investigational Phase 4 144689-24-7, 144689-63-4 158781 130881
16
Trandolapril Approved Phase 4 87679-37-6 5484727
17
Lisinopril Approved, Investigational Phase 4 83915-83-7, 76547-98-3 5362119
18
Azilsartan medoxomil Approved, Investigational Phase 4 863031-21-4
19
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
20
Perindopril Approved Phase 4 107133-36-8, 82834-16-0 107807
21
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
22
Candesartan cilexetil Approved Phase 4 145040-37-5 2540
23
Zofenopril Approved Phase 4 81872-10-8
24
Enalapril Approved, Vet_approved Phase 4 75847-73-3 5362032 40466924
25
Enalaprilat Approved Phase 4 76420-72-9 6917719
26
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
27
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
28
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198
29
Losartan Approved Phase 4 114798-26-4 3961
30
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
31
Levonorgestrel Approved, Investigational Phase 4 797-63-7, 17489-40-6 13109
32
Citalopram Approved Phase 4 59729-33-8 2771
33
Histamine Approved, Investigational Phase 4 51-45-6, 75614-87-8 774
34
Methamphetamine Approved, Illicit Phase 4 537-46-2 10836
35
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
36
Varenicline Approved, Investigational Phase 4 249296-44-4 5310966
37
Iron Approved Phase 4 7439-89-6 23925 29936
38
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
39
Remifentanil Approved Phase 4 132875-61-7 60815
40
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
41
Adapalene Approved Phase 4 106685-40-9 60164
42
Benzoyl peroxide Approved Phase 4 94-36-0 7187
43
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
44
Metoprolol Approved, Investigational Phase 4 51384-51-1, 37350-58-6 4171
45
Teriparatide Approved, Investigational Phase 4 52232-67-4 16133850
46
Lactulose Approved Phase 4 4618-18-2 11333
47
carbamide peroxide Approved Phase 4 124-43-6
48
Dimenhydrinate Approved Phase 4 523-87-5 441281
49
Verteporfin Approved, Investigational Phase 4 129497-78-5
50
Udenafil Approved, Investigational Phase 4 268203-93-6 6918523

Interventional clinical trials:

(show top 50) (show all 3461)
# Name Status NCT ID Phase Drugs
1 IntAct, Study on Promotion of Intrinsic Activity. Unknown status NCT00156741 Phase 4
2 Filgrastim for Treatment of Premature Ovarian Insufficiency: Randomized Clinical Trial Unknown status NCT02783937 Phase 4 Saline
3 The Effect of Far Infrared (FIR) Therapy on Access Flow of Arteriovenous (AV) Fistula, Echocardiographic Parameters and Endothelial Function in Patients With End Stage Renal Disease Unknown status NCT01138254 Phase 4
4 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
5 A Randomised Controlled Trial to Compare the Clinical Effectiveness of Selective Laser Trabeculoplasty (SLT) Versus Topical Therapy in the Treatment of Pseudoexfoliative Glaucoma Unknown status NCT01704989 Phase 4 Prostagladin
6 'A Prospective Randomized Trial to Assess the Impact of Ascorbic Acid on Outcomes and Complications Post Cardiac Surgeries'' Unknown status NCT03639519 Phase 4 Ascorbic Acid 500Mg Chew Tab
7 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
8 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
9 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
10 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
11 Status of the Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis in Relation to Growth Failure, Body Weight and Neuroprotection in Children With Ataxia Telangiectasia Unknown status NCT01052623 Phase 4 Somatropin, Clonidine, L-Arginin-Hydrochloride, Estradiol valerate
12 0.3% Sodium Hyaluronate in the Treatment of Dry Eye of Diabetic Patients Unknown status NCT02595606 Phase 4 0.3% Sodium Hyaluronate
13 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
14 Amiodarone Prophylaxis for Atrial Fibrillation in Patients Undergoing Surgery for Lung Cancer: A Controlled, Randomized, Double Blinded Trial Unknown status NCT00724581 Phase 4 Amiodarone
15 Distribution and Expression of Non-neuronal Transient Receptor Potential (TRPV) Ion Channels in Sensitive Skin Syndrome. Unknown status NCT01871883 Phase 4
16 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
17 Ulipristal Versus Placebo for Women With Bleeding Induced by Mirena, a Randomized Clinical Trial Unknown status NCT03186586 Phase 4 Ulipristal acetate;Placebo
18 Impact of Antibiotic Treatment Following Implantation of Cardiac Electronic Device on Patient's Outcome Unknown status NCT03148444 Phase 4 cefalexin 500 mg qid or roxithromycin 150 mg bid
19 Comparison of Efficacy and Safety of Different Doses of Nifekalant Instant Cardioversion of Persistent Atrial Fibrillation During Radiofrequency Ablation:a Single-center Randomized Controlled Trial Unknown status NCT04209959 Phase 4 nifekalant
20 The Efficacy and Safety of Nicotinic Acid in the Hemodialysis Patients With Hyperphosphatemia Unknown status NCT02836184 Phase 4 Nicotinic Acids;Calcium Carbonate
21 Double Blind, Placebo-Controlled Trial of THC as add-on Therapy for PTSD Unknown status NCT00965809 Phase 4 Tetrahydrocannabinol
22 Efficacy and Safety of Warfarin Anticoagulation for Prevention of Portal Vein Thrombosis in Liver Cirrhotic Patients With Hypersplenism After Laparoscopic Splenectomy Unknown status NCT02238444 Phase 4 Warfarin;Dipyridamole;Aspirin;Low Molecular Weight Heparin
23 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
24 SMARTDELAY Determined AV Optimization: A Comparison to Other AV Delay Methods Used in Cardiac Resynchronization Therapy Completed NCT00677014 Phase 4
25 European Multicenter Study RF Versus Cryo in AVNRT: A Randomized Study Comparing Cryo-Energy vs. Radiofrequency-Energy Ablation Technique for AV Nodal Reentry Tachycardia (AVNRT) Completed NCT00196222 Phase 4
26 Factors of Treatment Response in Major Depressive Disorder Completed NCT00200902 Phase 4 Venlafaxine (Effexor), Duloxetine (Cymbalta), Escitalopram (Lexapro)
27 Aromatase Inhibitor Effects on Ovarian Function During the Follicular and Early Luteal Phase in Women Completed NCT01046578 Phase 4 Letrozole;Letrozole;Letrozole;Letrozole;Letrozole;Letrozole
28 Efficacy of Intravenous Lidocaine at Alleviating Pain Associated With Propofol Infusion in Pediatric Patients Undergoing Procedural Sedation Completed NCT00786916 Phase 4 normal saline;lidocaine;lidocaine
29 A Comparison of Surgical Outcome Following Drug-induced Sleep Endoscopic Diagnosis Using Propofol or Dexmedetomidine for Sedation : A Prospective Randomized Trial Completed NCT01895348 Phase 4 Propofol;propofol-remifentanil;Dexmedetomidine-remifentanil
30 Cardioversion, Ablation or Pace and Ablate for Persistent Atrial Fibrillation in Over 65s - The CAPAPAF-65 Study Completed NCT02528604 Phase 4
31 Epiduo® (Adapalene and Benzoyl Peroxide) Gel 0.1%/2.5% Pump, Cetaphil® DermaControl™ Moisturizer SPF 30, and Cetaphil® DermaControl™ Foam Wash Regimen in Student Athletes With Mild to Moderate Acne Vulgaris Completed NCT02249104 Phase 4 Adapalene/benzoyl peroxide gel, 0.1%/2.5%
32 XIENCE V® Everolimus Eluting Coronary Stent System USA Post- Approval Study (XIENCE V® USA DAPT Cohort) (XVU-AV DAPT) Completed NCT01106534 Phase 4 placebo + aspirin;clopidogrel + aspirin OR prasugrel + aspirin
33 Prevention of Atrial Arrhythmia in Patients Without AV Conduction Disease Completed NCT01170611 Phase 4
34 Inhibition of Unnecessary RV Pacing With AV Search Hysteresis in ICDs Completed NCT00148967 Phase 4
35 Acute and Chronic Effect of His-pacing in Consecutive Patients With AV-block Completed NCT01019213 Phase 4
36 Study of Pain, Anxiety, Complications Related to AV Fistula Cannulation in Chronic Hemodialysis Patients. A. Buttonhole vs. Rope Ladder Technique B. Catheters With Cylindrical Point vs. Catheters With Bevel Point in Rope Ladder Technique Completed NCT00544492 Phase 4
37 Påskyndar PTH läkningen av Konservativt Behandlade Humerusfrakturer? Completed NCT01105832 Phase 4 Teriparatide
38 Fluency Stent-Graft Versus Luminex Stent for Angioplasty of Recurrent Stenosis of the Cephalic Arch in Autogenous Arteriovenous (AV) Access for Hemodialysis Completed NCT00318435 Phase 4
39 Randomized Comparison Between Magnetically Navigated vs Manually Guided Radiofrequency in AV-node-reentry-tachycardia Completed NCT00875914 Phase 4
40 Effectiveness of Postpartum Furosemide on Recovery Blood Pressure in Puerperal Women With Severe Preeclampsia: a Randomized Clinical Trial Completed NCT02163655 Phase 4 FUROSEMIDE;Placebo
41 Double Blinded, Randomized Trial, Comparing Intravenous Bolus of 50 mg of Hydrocortisone Every 6 Hours for 7 Days With a Continuous Infusion of 300 mg Per Day of Hydrocortisone 300-mg Group During 5 Days in the Treatment of Septic Shock. Completed NCT02768740 Phase 4 Hydrocortisone hemisuccinate
42 Randomized Controlled Trial of Tranexamic Acid in Total Knee Arthroplasty: Intravenous vs. Topical Completed NCT01940523 Phase 4 Topical Tranexamic Acid;Intravenous Tranexamic Acid
43 Multi-centre, Double-blind, Randomized, Controlled Trial Comparing Intra-operative Regional Heparinization to Placebo for the Prevention of Deep Vein Thrombosis Following Total Knee Arthroplasty Completed NCT00253851 Phase 4 unfractionated heparin
44 The Impact of Treating Staphylococcus Aureus Infection and Colonization on the Clinical Severity of Atopic Dermatitis Completed NCT00179959 Phase 4 Sodium hypochlorite (bleach) baths;Mupirocin ointment;Water;Petrolatum Ointment
45 Angiotensin II Blockade for the Prevention of Cortical Interstitial Expansion and Graft Loss in Kidney Transplant Recipients Completed NCT00067990 Phase 4 Losartan 100mg;Placebo
46 Relapse Prevention With Varenicline Completed NCT00944554 Phase 4 Varenicline;Placebo
47 A Randomized Controlled Trial of the Effect of Simethicone on Postoperative Ileus in Patients Undergoing Colorectal Surgery: A Pilot Study Completed NCT02161367 Phase 4 Simethicone;Oral Suspending Vehicle
48 Efficacy and Safety of Intravitreal Vascular Endothelial Growth Factor Trap-eye in Patients With Polyploidal Choroidal Vasculopathy Completed NCT02072408 Phase 4 aflibercept
49 The Efficacy of Penile Rehabilitation Using Udenafil After Total Mesorectal Excision of Rectal Cancer Completed NCT01421940 Phase 4 Placebo drug;Udenafil
50 A Randomized, Double-blind, Placebo-controlled, Parallel-group, Multicenter Study to Evaluate the Effect of Secukinumab on Aortic Vascular Inflammation and Cardiometabolic Biomarkers After 12 Weeks of Treatment, Compared to Placebo, and up to 52 Weeks of Treatment With Secukinumab in Adult Subjects With Moderate to Severe Chronic Plaque-type Psoriasis Completed NCT02690701 Phase 4 Secukinumab 300 mg

Search NIH Clinical Center for Ataxia with Vitamin E Deficiency

Genetic Tests for Ataxia with Vitamin E Deficiency

Anatomical Context for Ataxia with Vitamin E Deficiency

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

40
Prostate, Liver, Eye, Bone, Skin, Endothelial, Breast

Publications for Ataxia with Vitamin E Deficiency

Articles related to Ataxia with Vitamin E Deficiency:

(show top 50) (show all 110)
# Title Authors PMID Year
1
Ataxia with Vitamin E Deficiency May Present with Cervical Dystonia. 61 25
27274910 2016
2
Ataxia with vitamin e deficiency in norway. 61 25
25614784 2015
3
Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency. 25 61
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. 61 25
19440741 2010
5
Ataxia with vitamin E deficiency associated with deafness. 25 61
19102053 2008
6
Biochemical consequences of heritable mutations in the alpha-tocopherol transfer protein. 61 25
16819822 2006
7
Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients. 25 61
15953402 2005
8
Prevalence of inherited ataxias in the province of Padua, Italy. 25 61
15297793 2004
9
Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. 25 61
15300460 2004
10
Crystal structure of human alpha-tocopherol transfer protein bound to its ligand: implications for ataxia with vitamin E deficiency. 61 25
14657365 2003
11
Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families. 25 61
12039660 2002
12
Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency. 61 25
11554913 2001
13
Ataxia with vitamin E deficiency: biochemical effects of malcompliance with vitamin E therapy. 61 25
11094124 2000
14
Ataxia caused by mutations in the alpha-tocopherol transfer protein gene. 61 25
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. 61 25
10082886 1999
16
Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. 25 61
9463307 1998
17
Friedreich's ataxia with isolated vitamin E deficiency: a neuropathological study of a Tunisian patient. 25 61
9194904 1997
18
Vitamin E is essential for Purkinje neuron integrity. 25
24342566 2014
19
Vitamin E. 25
22585906 2012
20
Mechanisms of genetically-based resistance to malaria. 25
20655368 2010
21
Hepatic α-tocopherol transfer protein: ligand-induced protection from proteasomal degradation. 25
20828164 2010
22
Alpha-tocopherol transfer protein disruption confers resistance to malarial infection in mice. 25
20403155 2010
23
alpha-Tocopherol transfer protein inhibition is effective in the prevention of cerebral malaria in mice. 25
19923370 2010
24
Molecular determinants of heritable vitamin E deficiency. 25
15065857 2004
25
Localization of alpha-tocopherol transfer protein in trophoblast, fetal capillaries' endothelium and amnion epithelium of human term placenta. 25
15190938 2004
26
Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse. 25
14556008 2003
27
The molecular basis of vitamin E retention: structure of human alpha-tocopherol transfer protein. 25
12899840 2003
28
Human placental trophoblast cells express alpha-tocopherol transfer protein. 25
12744919 2003
29
Incorporation of deuterated RRR- or all-rac-alpha-tocopherol in plasma and tissues of alpha-tocopherol transfer protein--null mice. 25
11864863 2002
30
Urinary alpha-tocopherol metabolites in alpha-tocopherol transfer protein-deficient patients. 25
11013295 2000
31
A novel human tocopherol-associated protein: cloning, in vitro expression, and characterization. 25
10829015 2000
32
Postmortem study of ataxia with retinitis pigmentosa by mutation of the alpha-tocopherol transfer protein gene. 25
10727494 2000
33
Vitamin E deficiency due to chylomicron retention disease in Marinesco-Sjögren syndrome. 25
10665502 2000
34
Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency. 25
9931538 1999
35
Localization of alpha-tocopherol transfer protein in rat brain. 25
9855364 1998
36
Crystal structure of the Saccharomyces cerevisiae phosphatidylinositol-transfer protein. 25
9461221 1998
37
Effect of plasma alpha-tocopherol on leukotriene E4 excretion in genetic vitamin E deficiency. 25
9266396 1997
38
Affinity for alpha-tocopherol transfer protein as a determinant of the biological activities of vitamin E analogs. 25
9199513 1997
39
Ataxia with isolated vitamin E deficiency in four siblings. 25
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. 25
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. 25
8643598 1996
42
Total radical trapping antioxidant potential (TRAP) and exercise. 25
8731567 1996
43
Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency. 25
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. 25
8747477 1995
45
Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein. 25
7566022 1995
46
Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. 25
7719340 1995
47
Familial isolated vitamin E deficiency. Extensive study of a large family with a 5-year therapeutic follow-up. 25
7474901 1995
48
Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. 25
8252047 1993
49
Primary structure of alpha-tocopherol transfer protein from rat liver. Homology with cellular retinaldehyde-binding protein. 25
8349655 1993
50
Impaired discrimination between stereoisomers of alpha-tocopherol in patients with familial isolated vitamin E deficiency. 25
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 105)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TTPA NM_000370.3(TTPA):c.19del (p.Gln7fs) Deletion Pathogenic 208623 rs760014795 8:63998562-63998562 8:63086003-63086003
2 TTPA NM_000370.3(TTPA):c.205-1G>T SNV Pathogenic 267261 rs886040963 8:63985648-63985648 8:63073089-63073089
3 TTPA NM_000370.3(TTPA):c.552+2T>A SNV Pathogenic 267262 rs886040964 8:63978461-63978461 8:63065902-63065902
4 TTPA NM_000370.3(TTPA):c.191A>G (p.Asp64Gly) SNV Pathogenic 65590 rs397515523 8:63998390-63998390 8:63085831-63085831
5 TTPA NM_000370.3(TTPA):c.303T>G (p.His101Gln) SNV Pathogenic 9137 rs121917849 8:63985549-63985549 8:63072990-63072990
6 TTPA NM_000370.3(TTPA):c.421G>A (p.Glu141Lys) SNV Pathogenic 65592 rs397515524 8:63978594-63978594 8:63066035-63066035
7 TTPA NM_000370.3(TTPA):c.530_531delinsGTAAGT (p.Lys177fs) Indel Pathogenic 65595 rs1554605631 8:63978484-63978485 8:63065925-63065926
8 TTPA NM_000370.3(TTPA):c.548T>C (p.Leu183Pro) SNV Pathogenic 65596 rs397515525 8:63978467-63978467 8:63065908-63065908
9 TTPA NM_000370.3(TTPA):c.736G>C (p.Gly246Arg) SNV Pathogenic 65598 rs397515526 8:63973912-63973912 8:63061353-63061353
10 TTPA NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs) Insertion Pathogenic 9139 rs397515379 8:63978501-63978502 8:63065942-63065943
11 TTPA NM_000370.3(TTPA):c.744del (p.Glu249fs) Deletion Pathogenic 9136 rs397515377 8:63973904-63973904 8:63061345-63061345
12 TTPA NM_000370.3(TTPA):c.400C>T (p.Arg134Ter) SNV Pathogenic/Likely pathogenic 9141 rs121917851 8:63978615-63978615 8:63066056-63066056
13 TTPA NM_000370.3(TTPA):c.487del (p.Trp163fs) Deletion Pathogenic/Likely pathogenic 188951 rs397515378 8:63978528-63978528 8:63065969-63065969
14 TTPA NM_000370.3(TTPA):c.205-1G>C SNV Pathogenic/Likely pathogenic 370407 rs886040963 8:63985648-63985648 8:63073089-63073089
15 TTPA NM_000370.3(TTPA):c.205-2A>G SNV Likely pathogenic 370950 rs758349851 8:63985649-63985649 8:63073090-63073090
16 TTPA NM_000370.3(TTPA):c.2T>A (p.Met1Lys) SNV Likely pathogenic 371454 rs786204758 8:63998579-63998579 8:63086020-63086020
17 TTPA NM_000370.3(TTPA):c.552G>A (p.Thr184=) SNV Likely pathogenic 374211 rs181109321 8:63978463-63978463 8:63065904-63065904
18 TTPA NM_000370.3(TTPA):c.88_118del (p.Ala30fs) Deletion Likely pathogenic 550204 rs1554525125 8:63998463-63998493 8:63085904-63085934
19 TTPA NM_000370.3(TTPA):c.227_229delinsATT (p.Trp76_Arg77delinsTyrTer) Indel Likely pathogenic 551293 rs1554524061 8:63985623-63985625 8:63073064-63073066
20 TTPA NM_000370.3(TTPA):c.313A>T (p.Arg105Ter) SNV Likely pathogenic 370354 rs1057516423 8:63985539-63985539 8:63072980-63072980
21 TTPA NM_000370.3(TTPA):c.441del (p.Glu148fs) Deletion Likely pathogenic 371663 rs1057517448 8:63978574-63978574 8:63066015-63066015
22 TTPA NM_000370.3(TTPA):c.13C>T (p.Arg5Ter) SNV Likely pathogenic 370311 rs1008240677 8:63998568-63998568 8:63086009-63086009
23 TTPA NM_000370.3(TTPA):c.557C>A (p.Ser186Ter) SNV Likely pathogenic 557235 rs1554605498 8:63976871-63976871 8:63064312-63064312
24 TTPA NM_000370.3(TTPA):c.1A>T (p.Met1Leu) SNV Likely pathogenic 557555 rs1408863841 8:63998580-63998580 8:63086021-63086021
25 TTPA NM_000370.3(TTPA):c.83_105del (p.Leu28fs) Deletion Likely pathogenic 558725 rs1554525128 8:63998476-63998498 8:63085917-63085939
26 TTPA NM_000370.3(TTPA):c.339del (p.Val114fs) Deletion Likely pathogenic 633013 rs1563363293 8:63985513-63985513 8:63072954-63072954
27 TTPA NM_000370.3(TTPA):c.172G>C (p.Ala58Pro) SNV Likely pathogenic 802413 rs982650476 8:63998409-63998409 8:63085850-63085850
28 TTPA NM_000370.3(TTPA):c.575G>A (p.Arg192His) SNV Likely pathogenic 9140 rs121917850 8:63976853-63976853 8:63064294-63064294
29 TTPA NM_000370.3(TTPA):c.2T>C (p.Met1Thr) SNV Likely pathogenic 189186 rs786204758 8:63998579-63998579 8:63086020-63086020
30 TTPA NM_000370.3(TTPA):c.358G>A (p.Ala120Thr) SNV Conflicting interpretations of pathogenicity 65591 rs143010236 8:63985494-63985494 8:63072935-63072935
31 TTPA NM_000370.3(TTPA):c.36G>T (p.Pro12=) SNV Uncertain significance 724632 rs773911591 8:63998545-63998545 8:63085986-63085986
32 TTPA NM_000370.3(TTPA):c.401G>A (p.Arg134Gln) SNV Uncertain significance 991274 8:63978614-63978614 8:63066055-63066055
33 TTPA NM_000370.3(TTPA):c.221A>G (p.Tyr74Cys) SNV Uncertain significance 991275 8:63985631-63985631 8:63073072-63073072
34 TTPA NM_000370.3(TTPA):c.177G>C (p.Arg59=) SNV Uncertain significance 991596 8:63998404-63998404 8:63085845-63085845
35 TTPA NM_000370.3(TTPA):c.166C>T (p.Leu56=) SNV Uncertain significance 991597 8:63998415-63998415 8:63085856-63085856
36 TTPA NM_000370.3(TTPA):c.123G>A (p.Pro41=) SNV Uncertain significance 991598 8:63998458-63998458 8:63085899-63085899
37 TTPA NM_000370.3(TTPA):c.*769G>A SNV Uncertain significance 912172 8:63973042-63973042 8:63060483-63060483
38 TTPA NM_000370.3(TTPA):c.338A>G (p.Lys113Arg) SNV Uncertain significance 912239 8:63985514-63985514 8:63072955-63072955
39 TTPA NM_000370.3(TTPA):c.202C>A (p.Arg68=) SNV Uncertain significance 912240 8:63998379-63998379 8:63085820-63085820
40 TTPA NM_000370.3(TTPA):c.178G>A (p.Asp60Asn) SNV Uncertain significance 448838 rs199636231 8:63998403-63998403 8:63085844-63085844
41 TTPA NM_000370.3(TTPA):c.144C>G (p.Thr48=) SNV Uncertain significance 912241 8:63998437-63998437 8:63085878-63085878
42 TTPA NM_000370.3(TTPA):c.-18G>A SNV Uncertain significance 912242 8:63998598-63998598 8:63086039-63086039
43 TTPA NM_000370.3(TTPA):c.355A>G (p.Ile119Val) SNV Uncertain significance 727159 rs766200402 8:63985497-63985497 8:63072938-63072938
44 TTPA NM_000370.3(TTPA):c.272G>C (p.Ser91Thr) SNV Uncertain significance 805736 rs186021365 8:63985580-63985580 8:63073021-63073021
45 TTPA NM_000370.3(TTPA):c.117C>T (p.Gly39=) SNV Uncertain significance 754525 rs750576019 8:63998464-63998464 8:63085905-63085905
46 TTPA NM_000370.3(TTPA):c.661C>T (p.Arg221Trp) SNV Uncertain significance 65597 rs35916840 8:63976767-63976767 8:63064208-63064208
47 TTPA NM_000370.3(TTPA):c.*1598C>T SNV Uncertain significance 363532 rs886063059 8:63972213-63972213 8:63059654-63059654
48 TTPA NM_000370.3(TTPA):c.*806C>T SNV Uncertain significance 363546 rs752352118 8:63973005-63973005 8:63060446-63060446
49 TTPA NM_000370.3(TTPA):c.*452T>C SNV Uncertain significance 363552 rs886063066 8:63973359-63973359 8:63060800-63060800
50 TTPA NM_000370.3(TTPA):c.*292A>G SNV Uncertain significance 363554 rs886063067 8:63973519-63973519 8:63060960-63060960

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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