VED
MCID: VTM028
MIFTS: 53

Vitamin E, Familial Isolated Deficiency of (VED)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Vitamin E, Familial Isolated Deficiency of

MalaCards integrated aliases for Vitamin E, Familial Isolated Deficiency of:

Name: Vitamin E, Familial Isolated Deficiency of 57
Ataxia with Isolated Vitamin E Deficiency 57 12 58 73 36 13
Familial Isolated Deficiency of Vitamin E 12 29 6 15
Familial Isolated Vitamin E Deficiency 12 58 73
Ataxia with Vitamin E Deficiency 58 44 71
Aved 57 58 73
Friedreich-Like Ataxia 57 58
Vitamin E Deficiency 44 71
Ataxia, Friedreich-Like, with Selective Vitamin E Deficiency; Aved 57
Ataxia, Friedreich-Like, with Selective Vitamin E Deficiency 57
Ataxia Friedreich-Like with Selective Vitamin E Deficiency 73
Vitamin E Familial Isolated, Deficiency of 74
Isolated Vitamin E Deficiency 58
Ved 57

Characteristics:

Orphanet epidemiological data:

58
ataxia with vitamin e deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
vitamin e, familial isolated deficiency of:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0090028
OMIM® 57 277460
KEGG 36 H00981
NCIt 50 C155996
SNOMED-CT 67 702442008
ICD10 32 E56.0
MESH via Orphanet 45 C535393
ICD10 via Orphanet 33 G11.1
UMLS via Orphanet 72 C1848533
Orphanet 58 ORPHA96
MedGen 41 C1848533
UMLS 71 C0042875 C1848533

Summaries for Vitamin E, Familial Isolated Deficiency of

KEGG : 36 Ataxia with isolated vitamin E deficiency (AVED) is a rare autosomal recessive neurodegenerative disease caused by mutations in the alpha tocopherol transfer protein (TTPA) gene. It causes ataxia and peripheral neuropathy that resembles Friedreich ataxia. AVED patients have markedly reduced plasma levels of vitamin E.

MalaCards based summary : Vitamin E, Familial Isolated Deficiency of, also known as ataxia with isolated vitamin e deficiency, is related to ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia and spastic ataxia, charlevoix-saguenay type, and has symptoms including ataxia An important gene associated with Vitamin E, Familial Isolated Deficiency of is TTPA (Alpha Tocopherol Transfer Protein). The drugs Nitric Oxide and Adapalene have been mentioned in the context of this disorder. Affiliated tissues include eye, liver and endothelial, and related phenotypes are ataxia and areflexia

Disease Ontology : 12 A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has material basis in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12.

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

Wikipedia : 74 Familial Isolated Vitamin E Deficiency is a rare autosomal recessive neurodegenerative disease. Symptoms... more...

More information from OMIM: 277460

Related Diseases for Vitamin E, Familial Isolated Deficiency of

Diseases related to Vitamin E, Familial Isolated Deficiency of via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 203)
# Related Disease Score Top Affiliating Genes
1 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 31.7 TTPA SETX FXN APTX
2 spastic ataxia, charlevoix-saguenay type 31.2 TTPA SETX FXN APTX
3 abetalipoproteinemia 30.4 TTPA APOB
4 autosomal recessive cerebellar ataxia 30.3 SETX FXN APTX
5 autosomal dominant cerebellar ataxia 30.1 TTPA SETX FXN APTX
6 chronic polyneuropathy 29.8 TTPA SIL1
7 friedreich ataxia 29.6 TTPA SETX FXN APTX
8 peripheral nervous system disease 29.6 SETX FXN APTX
9 marinesco-sjogren syndrome 29.6 SIL1 FXN APTX
10 hereditary ataxia 29.4 TTPA SIL1 SETX FXN APTX
11 ataxia with vitamin e deficiency 11.6
12 chylomicron retention disease 11.4
13 dystonia 11, myoclonic 11.3
14 cerebellar ataxia, early-onset, with retained tendon reflexes 11.3
15 anemia, sideroblastic, and spinocerebellar ataxia 11.3
16 myopathy 10.6
17 muscular dystrophy 10.5
18 hemolytic anemia 10.4
19 cystic fibrosis 10.4
20 autosomal recessive disease 10.4
21 celiac disease 1 10.3
22 posttransplant acute limbic encephalitis 10.3
23 spasticity 10.3
24 deficiency anemia 10.3
25 kearns-sayre syndrome 10.2
26 short bowel syndrome 10.2
27 encephalomalacia 10.2
28 spinocerebellar degeneration 10.2
29 cervical dystonia 10.2
30 sensory peripheral neuropathy 10.2
31 tremor 10.2
32 oculomotor apraxia 10.2 SETX APTX
33 primary biliary cholangitis 10.2
34 neuroaxonal dystrophy 10.2
35 familial intrahepatic cholestasis 10.2
36 ataxia and polyneuropathy, adult-onset 10.1
37 atrial standstill 1 10.1
38 macular degeneration, age-related, 1 10.1
39 dystonia 10.1
40 ataxia-oculomotor apraxia 3 10.1 SETX APTX
41 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 10.1 FXN APTX
42 spastic paraplegia 7, autosomal recessive 10.1 SETX APTX
43 yemenite deaf-blind hypopigmentation syndrome 10.1
44 glucose intolerance 10.1
45 keratomalacia 10.1
46 biliary atresia 10.1
47 thrombocytosis 10.1
48 pulmonary fibrosis 10.1
49 neuromuscular disease 10.1
50 48,xyyy 10.1

Graphical network of the top 20 diseases related to Vitamin E, Familial Isolated Deficiency of:



Diseases related to Vitamin E, Familial Isolated Deficiency of

Symptoms & Phenotypes for Vitamin E, Familial Isolated Deficiency of

Human phenotypes related to Vitamin E, Familial Isolated Deficiency of:

58 31 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 58 31 Very frequent (99-80%) HP:0001251
2 areflexia 58 31 Very frequent (99-80%) HP:0001284
3 neurological speech impairment 58 Frequent (79-30%)
4 scoliosis 58 Frequent (79-30%)
5 abnormal pyramidal sign 58 Very frequent (99-80%)
6 nystagmus 58 Frequent (79-30%)
7 dysarthria 58 Frequent (79-30%)
8 gait disturbance 58 Frequent (79-30%)
9 tremor 58 Occasional (29-5%)
10 diabetes mellitus 58 Occasional (29-5%)
11 muscle weakness 58 Very frequent (99-80%)
12 developmental regression 58 Occasional (29-5%)
13 visual impairment 58 Occasional (29-5%)
14 abnormality of retinal pigmentation 58 Occasional (29-5%)
15 abnormality of visual evoked potentials 58 Occasional (29-5%)
16 hypertonia 58 Occasional (29-5%)
17 hypertriglyceridemia 31 HP:0002155
18 skeletal muscle atrophy 58 Occasional (29-5%)
19 hypertrophic cardiomyopathy 58 Occasional (29-5%)
20 increased ldl cholesterol concentration 31 HP:0003141
21 hemiplegia/hemiparesis 58 Occasional (29-5%)
22 arrhythmia 58 Occasional (29-5%)
23 hypercholesterolemia 31 HP:0003124
24 dysmetria 58 Frequent (79-30%)
25 nyctalopia 58 Frequent (79-30%)
26 sensory neuropathy 58 Frequent (79-30%)
27 mental deterioration 58 Occasional (29-5%)
28 dystonia 58 Occasional (29-5%)
29 pes cavus 58 Frequent (79-30%)
30 dysdiadochokinesis 58 Frequent (79-30%)
31 peripheral neuropathy 58 Very frequent (99-80%)
32 low levels of vitamin e 31 HP:0100513
33 xanthelasma 31 HP:0001114
34 tendon xanthomatosis 31 HP:0010874

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neuro:
areflexia
spinocerebellar ataxia
proprioception loss

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

Skin:
xanthelasmata
tendon xanthomas

Clinical features from OMIM®:

277460 (Updated 05-Mar-2021)

UMLS symptoms related to Vitamin E, Familial Isolated Deficiency of:


ataxia

Drugs & Therapeutics for Vitamin E, Familial Isolated Deficiency of

Drugs for Vitamin E, Familial Isolated Deficiency of (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 228)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitric Oxide Approved Phase 4 10102-43-9 145068
2
Adapalene Approved Phase 4 106685-40-9 60164
3
Benzoyl peroxide Approved Phase 4 94-36-0 7187
4
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
5
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
6
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
7
Teriparatide Approved, Investigational Phase 4 52232-67-4 16133850
8
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 68-26-8, 11103-57-4 445354
9 Hormones Phase 4
10 Anti-Inflammatory Agents Phase 4
11 Platelet Aggregation Inhibitors Phase 4
12 Analgesics, Non-Narcotic Phase 4
13 Anti-Inflammatory Agents, Non-Steroidal Phase 4
14 Antirheumatic Agents Phase 4
15 Dermatologic Agents Phase 4
16 Adapalene, Benzoyl Peroxide Drug Combination Phase 4
17 Fibrinolytic Agents Phase 4
18 Cyclooxygenase Inhibitors Phase 4
19 Prasugrel hydrochloride Phase 4 389574-19-0
20 Purinergic P2Y Receptor Antagonists Phase 4
21 Antipyretics Phase 4
22 retinol Phase 4
23 Retinol palmitate Phase 4
24 Estrogens Phase 4
25 Calcium, Dietary Phase 4
26 Anti-Arrhythmia Agents Phase 4
27 Adrenergic beta-Antagonists Phase 4
28 calcium channel blockers Phase 4
29
Calcium Nutraceutical Phase 4 7440-70-2 271
30
Morphine Approved, Investigational Phase 3 57-27-2 5288826
31
Heparin Approved, Investigational Phase 3 9005-49-6 772 9812414
32
Nimodipine Approved, Investigational Phase 3 66085-59-4 4497
33
Bumetanide Approved Phase 3 28395-03-1 2471
34
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
35
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754
36
Angiotensin II Approved, Investigational Phase 2, Phase 3 68521-88-0, 4474-91-3, 11128-99-7 172198
37
Losartan Approved Phase 2, Phase 3 114798-26-4 3961
38
Sorafenib Approved, Investigational Phase 3 284461-73-0 216239 406563
39
Dopamine Approved Phase 2, Phase 3 51-61-6, 62-31-7 681
40
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
41
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
42
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
43
Sirolimus Approved, Investigational Phase 3 53123-88-9 5284616 6436030
44
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
45
Tramadol Approved, Investigational Phase 3 27203-92-5 33741
46
Verapamil Approved Phase 3 52-53-9 2520
47
Quinidine Approved, Investigational Phase 3 56-54-2 441074
48
Diltiazem Approved, Investigational Phase 3 42399-41-7 39186
49
Amiodarone Approved, Investigational Phase 3 1951-25-3 2157
50
Carvedilol Approved, Investigational Phase 3 72956-09-3 2585

Interventional clinical trials:

(show top 50) (show all 307)
# Name Status NCT ID Phase Drugs
1 IntAct, Study on Promotion of Intrinsic Activity. Unknown status NCT00156741 Phase 4
2 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
3 SMARTDELAY Determined AV Optimization: A Comparison to Other AV Delay Methods Used in Cardiac Resynchronization Therapy Completed NCT00677014 Phase 4
4 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
5 Cardioversion, Ablation or Pace and Ablate for Persistent Atrial Fibrillation in Over 65s - The CAPAPAF-65 Study Completed NCT02528604 Phase 4
6 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%
7 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
8 Prevention of Atrial Arrhythmia in Patients Without AV Conduction Disease Completed NCT01170611 Phase 4
9 Inhibition of Unnecessary RV Pacing With AV Search Hysteresis in ICDs Completed NCT00148967 Phase 4
10 Acute and Chronic Effect of His-pacing in Consecutive Patients With AV-block Completed NCT01019213 Phase 4
11 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
12 Påskyndar PTH läkningen av Konservativt Behandlade Humerusfrakturer? Completed NCT01105832 Phase 4 Teriparatide
13 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
14 Randomized Comparison Between Magnetically Navigated vs Manually Guided Radiofrequency in AV-node-reentry-tachycardia Completed NCT00875914 Phase 4
15 Effects of Brain Beta Amyloid on Postoperative Cognition and 18F-AV-45-A14: Clinical Evaluation of Florbetapir F 18 (18F-AV-45) Recruiting NCT01606488 Phase 4 Florbetapir F 18 (18F-AV-45)
16 A Prospective Multi-center Study for the Treatment of Chinese Children and Adolescents With Newly Diagnosed Hodgkin Lymphoma Using a Modified COG Strategy Recruiting NCT04726501 Phase 4
17 Prevention of Alzheimer's Disease in Women: Risks and Benefits of Hormone Therapy -Continuation of: "The Kronos Early Estrogen Prevention Study (KEEPS)" Mayo Clinic IRB#2241-04-00 Enrolling by invitation NCT03718494 Phase 4
18 Atrial Fibrillation Progression Trial Terminated NCT01570361 Phase 4 Drug Treatment
19 Permanent Atrial Fibrillation in Heart Failure Trial Terminated NCT00839566 Phase 4
20 EnPulse Trial on Search AV+ Influence Terminated NCT00157794 Phase 4
21 Better Pacing - Biventricular Pacing as Alternative Method in Patients With Disturbances of AV Conduction and Preserved LV Function Withdrawn NCT00559143 Phase 4
22 Evaluation of Glistenings in Intraocular Lenses AVS Model X-60 Vs AcrySof MA50-BM. Withdrawn NCT01131481 Phase 4
23 Effects of Fat-soluble Vitamins Supplementation in Early Life on Common Complications and Neural Development in Very Low Birth Weight Infants Unknown status NCT03876704 Phase 3 High dose of fat-Soluble Vitamin;Conventional dose of fat-Soluble Vitamin
24 Torsion Optimization to Reduce Symptoms and Improve Outcomes in Non-responders (TORSION). A Randomized Comparison of Torsion-imaging Guided Optimization vs. Usual Settings. Unknown status NCT00867984 Phase 3
25 CRT Improved Clinical Response UK Trial: A Multi-centre, Prospective, Randomized, Cross-over, Double Blind Study Unknown status NCT02669134 Phase 3
26 Impact of a Multidisciplinary Intensive Management Clinic on Clinical, Patient-Reported and Economic Outcomes in Multi-Ethnic Asian Incident Hemodialysis Patients Unknown status NCT01509690 Phase 2, Phase 3
27 Clinical Trial of the SonRtip Lead and Automatic AV-VV Optimization Algorithm in the PARADYM RF SonR CRT-D Unknown status NCT01534234 Phase 3
28 A Phase 3, Multicenter, Randomized, Double-Blind, Three-Arm Study to Evaluate the Efficacy and Safety of Tramadol Infusion (AVE-901) Versus Placebo and Morphine in the Management of Postoperative Pain Following Abdominoplasty Unknown status NCT03774836 Phase 3 Tramadol;Morphine
29 Cardiorenal Interactions During Treatment of Acute Decompensated Heart Failure: Diuretics Versus Ultrafiltration Completed NCT01138683 Phase 3 diuretics
30 Towards Cost-effective Management of Patients With Hypertension Due to Primary Aldosteronism: Adrenal Vein Sampling or Ct-scan? Completed NCT01096654 Phase 3
31 Autopsy Follow-up of Subjects Previously Imaged With Florbetapir F 18 (18F-AV-45) PET in Trial 18F-AV-45-A07 Completed NCT01447719 Phase 3 florbetapir F 18
32 A Prospective, Global, Multicenter, Randomized, Controlled Study Comparing Lutonix® 035 AV Drug Coated Balloon PTA Catheter vs. Standard Balloon PTA Catheter for the Treatment of Dysfunctional AV Fistulae Completed NCT02440022 Phase 3
33 Vital Access Venous Window Needle Guide for Salvage of AV FistulaE (SAVE) Trial Completed NCT01471041 Phase 2, Phase 3
34 A Clinico-Pathological Study of the Correspondence Between 18F-AV-1451 PET Imaging and Post-Mortem Assessment of Tau Pathology Completed NCT02516046 Phase 3 Flortaucipir F18
35 A Phase 3, Multicenter, Randomized, Double Blind, Three-Arm Study to Evaluate the Efficacy and Safety of Tramadol Infusion (AVE-901) Versus Placebo in the Management of Postoperative Pain Following Bunionectomy Completed NCT03290378 Phase 3 Tramadol
36 Double-blind, Randomized, Parallel-group, Dose Ranging, Multicenter Study to Evaluate the Efficacy and Safety of 2.5, 10, 35 and 50 mg AVE 7688 Once Daily, Using 100 mg Losartan-potassium Once Daily as Calibrator, for 12 Months Treatment, in Patients With Mild to Moderate Hypertension Completed NCT00284128 Phase 2, Phase 3 AVE7688;Losartan-potassium
37 A Phase 3, Randomized, Controlled, Multi-Center, Open-Label Study to Compare Tivozanib (AV-951) to Sorafenib in Subjects With Advanced Renal Cell Carcinoma (TIVO-1) Completed NCT01030783 Phase 3 tivozanib (AV-951);Sorafenib
38 An Open Label, Multicenter Study, Evaluating the Safety and Imaging Characteristics of 18F-AV-1451 in Cognitively Healthy Volunteers, Subjects With Mild Cognitive Impairment, and Subjects With Alzheimer's Disease Completed NCT02016560 Phase 2, Phase 3 florbetapir F 18;Flortaucipir F18
39 An Extension Treatment Protocol for Subjects Who Have Participated in a Phase 3 Study of Tivozanib vs. Sorafenib in Renal Cell Carcinoma (Protocol AV-951-09-301). Completed NCT01076010 Phase 3 Tivozanib;Sorafenib
40 An Open Label, Multicenter Study, Evaluating the Safety and Efficacy of 18F-AV-133 PET Imaging to Identify Subjects With Dopaminergic Degeneration Among Subjects Presenting to a Movement Disorders Specialty Clinic With an Uncertain Diagnosis Completed NCT01550484 Phase 2, Phase 3 18F-AV-133
41 Randomized Double Blind Factorial Assay, Aloe Vera (AV) And/Or Cnidoscolus Chayamansa (CC) Versus Placebo, Reduction Of High Blood Glucose In Women With Metabolic Syndrome Completed NCT00916175 Phase 2, Phase 3
42 A Phase III Study of the Correlation Between Florbetapir F 18 (18F-AV-45) PET Imaging and Amyloid Pathology Completed NCT00857415 Phase 3 florbetapir F 18
43 Surveillance and Treatment to Prevent Fetal Atrioventricular Block Likely to Occur Quickly (STOP BLOQ) Recruiting NCT04474223 Phase 3 Dexamethasone;IVIG
44 A Randomized Controlled Trial of Atrioventricular (AV) Junction Ablation and Biventricular Pacing Versus Optimal Pharmacological Therapy in Patients With Permanent Atrial Fibrillation Recruiting NCT02137187 Phase 3 Optimized drug therapy
45 Cerebral Amyloid Imaging Using Florbetapir (18F-AV-45) for the Etiological Diagnosis of Poststroke Cognitive Impairment and Dementia Recruiting NCT02813434 Phase 3
46 A Phase 3, Randomized, Multicenter, Single-blind, Controlled Study Evaluating Arteriovenous Fistula Outcomes With and Without a Perivascular Sirolimus-Eluting Collagen Implant Active, not recruiting NCT02513303 Phase 3 Sirolimus
47 A Phase 3, Multicenter, Single-Arm, Open-Label Study to Evaluate the Safety of Tramadol Infusion (AVE-901) in the Management of Post-Operative Pain Following Surgery Active, not recruiting NCT03395808 Phase 3 Tramadol
48 Pacing and AV Node Ablation Compared to Drug Therapy in Symptomatic Elderly Patients With Atrial Fibrillation Clinical Trial (PACIFIC) - Pilot Study Terminated NCT00589303 Phase 3 FDA approved rate and rhythm control drugs
49 Phase II Study for Amyloid Binding Imaging Study of [18F]AV-45 in Patients With Mild Cognitive Impairment, Alzheimer's Disease and Healthy Volunteers Unknown status NCT01238458 Phase 2 [18F]AV-45 PET amyloid binding imaging
50 EVALUATION OF ELECTRICAL ACTIVITY TIBIAL MUSCLE AND POSTURAL CONTROL OF INDIVIDUALS WITH HEMIPARESIA FROM AVE SUBMITTED TDCS ASSOCIATED WITH FES - CLINICAL STUDY, RANDOMIZED, DOUBLE BLIND. Unknown status NCT03008720 Phase 2

Search NIH Clinical Center for Vitamin E, Familial Isolated Deficiency of

Inferred drug relations via UMLS 71 / NDF-RT 51 :


alpha-Tocopherol Acetate
Calcitriol
d-alpha-Tocopheryl Acetate
dl-alpha tocopheryl acetate
Tocopherol Acetate
TOCOPHEROL,DL-ALPHA
Tocopherols
TOCOPHERYL ACID SUCCINATE
TOCOPHERYL ACID SUCCINATE,D-ALPHA
Vitamin E

Cochrane evidence based reviews: vitamin e deficiency

Genetic Tests for Vitamin E, Familial Isolated Deficiency of

Genetic tests related to Vitamin E, Familial Isolated Deficiency of:

# Genetic test Affiliating Genes
1 Familial Isolated Deficiency of Vitamin E 29 TTPA

Anatomical Context for Vitamin E, Familial Isolated Deficiency of

MalaCards organs/tissues related to Vitamin E, Familial Isolated Deficiency of:

40
Eye, Liver, Endothelial, Prostate, Spleen, Skeletal Muscle, Pancreas

Publications for Vitamin E, Familial Isolated Deficiency of

Articles related to Vitamin E, Familial Isolated Deficiency of:

(show top 50) (show all 78)
# Title Authors PMID Year
1
Familial ataxia with isolated vitamin E deficiency not due to mutation of alpha-TTP. 57 61 54
10552255 1999
2
Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency. 57 61 54
9931538 1999
3
Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. 54 61 57
7719340 1995
4
A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia. 54 57
12470185 2002
5
Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency. 54 57
8602747 1996
6
Autosomal recessive ataxia caused by three distinct gene defects in a single consanguineous family. 57
18569450 2008
7
Ataxia with vitamin E deficiency: refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families. 57
7726167 1995
8
Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families. 57
8232925 1993
9
Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. 57
8252047 1993
10
[Familial idiopathic vitamin E deficiency associated with cerebellar atrophy]. 57
2265507 1990
11
Impaired ability of patients with familial isolated vitamin E deficiency to incorporate alpha-tocopherol into lipoproteins secreted by the liver. 57
2298915 1990
12
Isolated vitamin E deficiency in the absence of fat malabsorption--familial and sporadic cases: characterization and investigation of causes. 57
3361234 1988
13
A treatable familial neuromyopathy with vitamin E deficiency, normal absorption, and evidence of increased consumption of vitamin E. 57
3141695 1988
14
Adult-onset spinocerebellar syndrome with idiopathic vitamin E deficiency. 57
3477125 1987
15
Isolated deficiency of vitamin E with progressive neurologic deterioration. 57
3822155 1987
16
Spinocerebellar degeneration associated with a selective defect of vitamin E absorption. 57
4000224 1985
17
A progressive neurological syndrome associated with an isolated vitamin E deficiency. 57
6509402 1984
18
Neuromyopathy and vitamin E deficiency in man. 57
6945489 1981
19
Neuromuscular disease in patients with steatorrhoea. 57
6079812 1967
20
A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency. 61 54
18458655 2008
21
First case of ataxia with isolated vitamin E deficiency in the Netherlands. 54 61
17049453 2007
22
Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. 54 61
15300460 2004
23
Ataxia with vitamin E deficiency and severe dystonia: report of a case. 61 54
12907280 2003
24
The molecular basis of vitamin E retention: structure of human alpha-tocopherol transfer protein. 54 61
12899840 2003
25
Delayed-onset ataxia in mice lacking alpha -tocopherol transfer protein: model for neuronal degeneration caused by chronic oxidative stress. 54 61
11752462 2001
26
Ataxia with isolated vitamin E deficiency: a Japanese family carrying a novel mutation in the alpha-tocopherol transfer protein gene. 61 54
10360777 1999
27
alpha-Tocopherol transfer protein gene: exon skipping of all transcripts causes ataxia. 61 54
9270601 1997
28
A first description of ataxia with vitamin E deficiency associated with MT-TG gene mutation. 61
32979145 2020
29
Vitamin E - The Next 100 Years. 61
30550633 2019
30
Pediatric Ataxia: Focus on Chronic Disorders. 61
29735117 2018
31
Spastic ataxias. 61
29891058 2018
32
A Case of Ataxia with Isolated Vitamin E Deficiency Initially Diagnosed as Friedreich's Ataxia. 61
26989534 2016
33
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia. 61
26068213 2015
34
Retinitis pigmentosa and macular degeneration in a patient with ataxia with isolated vitamin E deficiency with a novel c.717 del C mutation in the TTPA gene. 61
25066259 2014
35
Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E. 61
23622402 2013
36
[Autosomal recessive cerebellar ataxias]. 61
19442480 2009
37
Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients. 54
19141356 2009
38
Mechanisms of ligand transfer by the hepatic tocopherol transfer protein. 54
18458085 2008
39
[Familial hypobetalipoproteinemia secondary to a mutation in the apolipoprotein B gene]. 54
17517208 2007
40
Alpha-Tocopherol Transfer Protein (alpha-TTP): Insights from Alpha-Tocopherol Transfer Protein Knockout Mice. 54
20368946 2007
41
Structure and function of alpha-tocopherol transfer protein: implications for vitamin E metabolism and AVED. 54
17628170 2007
42
The alpha-tocopherol transfer protein. 54
17628171 2007
43
Autosomal recessive cerebellar ataxias. 54
17112370 2006
44
Efficacious vitamin E treatment in a child with ataxia with isolated vitamin E deficiency. 61
16491382 2006
45
Biochemical consequences of heritable mutations in the alpha-tocopherol transfer protein. 54
16819822 2006
46
[Autosomal recessive cerebellar ataxias. Their classification, genetic features and pathophysiology]. 54
16193447 2005
47
Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients. 54
15953402 2005
48
Molecular mechanisms of vitamin E transport. 54
15753133 2004
49
Ataxia with isolated vitamin E deficiency: a treatable neurologic disorder resembling Friedreich's ataxia. 61
15300458 2004
50
Crystal structure of human alpha-tocopherol transfer protein bound to its ligand: implications for ataxia with vitamin E deficiency. 54
14657365 2003

Variations for Vitamin E, Familial Isolated Deficiency of

ClinVar genetic disease variations for Vitamin E, Familial Isolated Deficiency of:

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

UniProtKB/Swiss-Prot genetic disease variations for Vitamin E, Familial Isolated Deficiency of:

73
# Symbol AA change Variation ID SNP ID
1 TTPA p.His101Gln VAR_005668 rs121917849
2 TTPA p.Arg192His VAR_007858 rs121917850
3 TTPA p.Arg59Trp VAR_022388 rs397515522
4 TTPA p.Ala120Thr VAR_022389 rs143010236
5 TTPA p.Glu141Lys VAR_022390 rs397515524
6 TTPA p.Arg221Trp VAR_022391 rs35916840
7 TTPA p.Gly246Arg VAR_022392 rs397515526

Expression for Vitamin E, Familial Isolated Deficiency of

Search GEO for disease gene expression data for Vitamin E, Familial Isolated Deficiency of.

Pathways for Vitamin E, Familial Isolated Deficiency of

GO Terms for Vitamin E, Familial Isolated Deficiency of

Biological processes related to Vitamin E, Familial Isolated Deficiency of according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to hydrogen peroxide GO:0070301 9.26 SETX FXN
2 double-strand break repair GO:0006302 9.16 SETX APTX
3 intermembrane lipid transfer GO:0120009 8.96 TTPA APOB
4 regulation of cholesterol biosynthetic process GO:0045540 8.62 SEC14L2 APOB

Molecular functions related to Vitamin E, Familial Isolated Deficiency of according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 vitamin E binding GO:0008431 8.62 TTPA SEC14L2

Sources for Vitamin E, Familial Isolated Deficiency of

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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