AVED
MCID: ATX049
MIFTS: 52

Ataxia with Vitamin 3 Deficiency (AVED)

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

Aliases & Classifications for Ataxia with Vitamin 3 Deficiency

MalaCards integrated aliases for Ataxia with Vitamin 3 Deficiency:

Name: Ataxia with Vitamin 3 Deficiency 57
Ataxia with Isolated Vitamin E Deficiency 57 12 58 72 36 13
Familial Isolated Deficiency of Vitamin E 12 29 6 15
Familial Isolated Vitamin E Deficiency 12 58 72
Aved 57 58 72
Ataxia with Vitamin E Deficiency 58 44
Friedreich-Like Ataxia 57 58
Ataxia, Friedreich-Like, with Selective Vitamin E Deficiency 57
Ataxia Friedreich-Like with Selective Vitamin E Deficiency 72
Vitamin E Deficiency, Familial Isolated; Ved 57
Vitamin E Familial Isolated, Deficiency of 73
Vitamin E Deficiency, Familial Isolated 57
Isolated Vitamin E Deficiency 58
Vitamin E Deficiency 44
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-Apr-2021)
Inheritance:
autosomal recessive


HPO:

31
ataxia with vitamin 3 deficiency:
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 71 C1848533
Orphanet 58 ORPHA96
MedGen 41 C1848533
UMLS 70 C1848533

Summaries for Ataxia with Vitamin 3 Deficiency

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 : Ataxia with Vitamin 3 Deficiency, 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 Ataxia with Vitamin 3 Deficiency 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 : 72 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 : 73 Familial Isolated Vitamin E Deficiency is a rare autosomal recessive neurodegenerative disease. Symptoms... more...

More information from OMIM: 277460

Related Diseases for Ataxia with Vitamin 3 Deficiency

Diseases related to Ataxia with Vitamin 3 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 204)
# Related Disease Score Top Affiliating Genes
1 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 31.2 TTPA SIL1 SETX FXN APTX
2 spastic ataxia, charlevoix-saguenay type 31.2 TTPA SETX FXN APTX
3 abetalipoproteinemia 30.3 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 marinesco-sjogren syndrome 29.6 SIL1 FXN APTX
9 hereditary ataxia 29.4 TTPA SIL1 SETX FXN APTX
10 ataxia with vitamin e deficiency 11.6
11 chylomicron retention disease 11.4
12 dystonia 11, myoclonic 11.3
13 cerebellar ataxia, early-onset, with retained tendon reflexes 11.3
14 anemia, sideroblastic, and spinocerebellar ataxia 11.3
15 myopathy 10.6
16 muscular dystrophy 10.5
17 hemolytic anemia 10.4
18 cystic fibrosis 10.4
19 autosomal recessive disease 10.4
20 celiac disease 1 10.3
21 posttransplant acute limbic encephalitis 10.3
22 spasticity 10.3
23 deficiency anemia 10.3
24 kearns-sayre syndrome 10.2
25 short bowel syndrome 10.2
26 encephalomalacia 10.2
27 spinocerebellar degeneration 10.2
28 cervical dystonia 10.2
29 sensory peripheral neuropathy 10.2
30 tremor 10.2
31 oculomotor apraxia 10.2 SETX APTX
32 primary biliary cholangitis 10.2
33 neuroaxonal dystrophy 10.2
34 familial intrahepatic cholestasis 10.2
35 ataxia and polyneuropathy, adult-onset 10.1
36 atrial standstill 1 10.1
37 macular degeneration, age-related, 1 10.1
38 dystonia 10.1
39 ataxia-oculomotor apraxia 3 10.1 SETX APTX
40 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 10.1 FXN APTX
41 spastic paraplegia 7, autosomal recessive 10.1 SETX APTX
42 yemenite deaf-blind hypopigmentation syndrome 10.1
43 glucose intolerance 10.1
44 keratomalacia 10.1
45 biliary atresia 10.1
46 thrombocytosis 10.1
47 pulmonary fibrosis 10.1
48 neuromuscular disease 10.1
49 48,xyyy 10.1
50 thalassemia 10.1

Graphical network of the top 20 diseases related to Ataxia with Vitamin 3 Deficiency:



Diseases related to Ataxia with Vitamin 3 Deficiency

Symptoms & Phenotypes for Ataxia with Vitamin 3 Deficiency

Human phenotypes related to Ataxia with Vitamin 3 Deficiency:

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-Apr-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-Apr-2021)

UMLS symptoms related to Ataxia with Vitamin 3 Deficiency:


ataxia

Drugs & Therapeutics for Ataxia with Vitamin 3 Deficiency

Drugs for Ataxia with Vitamin 3 Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 224)
# 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
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
5
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
6
Clopidogrel Approved Phase 4 113665-84-2, 120202-66-6 60606
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 Anti-Inflammatory Agents Phase 4
10 Platelet Aggregation Inhibitors Phase 4
11 Analgesics, Non-Narcotic Phase 4
12 Adapalene, Benzoyl Peroxide Drug Combination Phase 4
13 Antirheumatic Agents Phase 4
14 Dermatologic Agents Phase 4
15 Anti-Inflammatory Agents, Non-Steroidal Phase 4
16 Fibrinolytic Agents Phase 4
17 Cyclooxygenase Inhibitors Phase 4
18 Purinergic P2Y Receptor Antagonists Phase 4
19 Prasugrel hydrochloride Phase 4 389574-19-0
20 Antipyretics Phase 4
21 retinol Phase 4
22 Retinol palmitate Phase 4
23 Estrogens Phase 4
24 Calcium, Dietary Phase 4
25 Anti-Arrhythmia Agents Phase 4
26 Adrenergic beta-Antagonists Phase 4
27 calcium channel blockers Phase 4
28
Calcium Nutraceutical Phase 4 7440-70-2 271
29
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754
30
Hydrocortisone acetate Approved, Vet_approved Phase 3 50-03-3
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
Sorafenib Approved, Investigational Phase 3 284461-73-0 216239 406563
35
Angiotensin II Approved, Investigational Phase 2, Phase 3 68521-88-0, 11128-99-7, 4474-91-3 172198
36
Losartan Approved Phase 2, Phase 3 114798-26-4 3961
37
Dopamine Approved Phase 2, Phase 3 62-31-7, 51-61-6 681
38
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
39
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 3 1177-87-3
40
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
41
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
42
Sirolimus Approved, Investigational Phase 3 53123-88-9 6436030 5284616
43
Morphine Approved, Investigational Phase 3 57-27-2 5288826
44
Tramadol Approved, Investigational Phase 3 27203-92-5 33741
45
Flecainide Approved, Withdrawn Phase 3 54143-55-4 3356
46
Metoprolol Approved, Investigational Phase 3 37350-58-6, 51384-51-1 4171
47
Amiodarone Approved, Investigational Phase 3 1951-25-3 2157
48
Carvedilol Approved, Investigational Phase 3 72956-09-3 2585
49
Verapamil Approved Phase 3 52-53-9 2520
50
Sotalol Approved Phase 3 959-24-0, 3930-20-9 5253

Interventional clinical trials:

(show top 50) (show all 311)
# 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 Inhibition of Unnecessary RV Pacing With AV Search Hysteresis in ICDs Completed NCT00148967 Phase 4
9 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
10 Prevention of Atrial Arrhythmia in Patients Without AV Conduction Disease Completed NCT01170611 Phase 4
11 Påskyndar PTH läkningen av Konservativt Behandlade Humerusfrakturer? Completed NCT01105832 Phase 4 Teriparatide
12 Acute and Chronic Effect of His-pacing in Consecutive Patients With AV-block Completed NCT01019213 Phase 4
13 Randomized Comparison Between Magnetically Navigated vs Manually Guided Radiofrequency in AV-node-reentry-tachycardia Completed NCT00875914 Phase 4
14 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
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 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
26 CRT Improved Clinical Response UK Trial: A Multi-centre, Prospective, Randomized, Cross-over, Double Blind Study Unknown status NCT02669134 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 Towards Cost-effective Management of Patients With Hypertension Due to Primary Aldosteronism: Adrenal Vein Sampling or Ct-scan? Completed NCT01096654 Phase 3
29 Cardiorenal Interactions During Treatment of Acute Decompensated Heart Failure: Diuretics Versus Ultrafiltration Completed NCT01138683 Phase 3 diuretics
30 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
31 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
32 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
33 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
34 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
35 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
36 Vital Access Venous Window Needle Guide for Salvage of AV FistulaE (SAVE) Trial Completed NCT01471041 Phase 2, Phase 3
37 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
38 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 Completed NCT03395808 Phase 3 Tramadol
39 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
40 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
41 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
42 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
43 Surveillance and Treatment to Prevent Fetal Atrioventricular Block Likely to Occur Quickly (STOP BLOQ) Recruiting NCT04474223 Phase 3 Dexamethasone;IVIG
44 Cerebral Amyloid Imaging Using Florbetapir (18F-AV-45) for the Etiological Diagnosis of Poststroke Cognitive Impairment and Dementia Recruiting NCT02813434 Phase 3
45 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
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, 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 Active, not recruiting NCT03774836 Phase 3 Tramadol;Morphine
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 Alzheimer's Disease: Clinical Investigation and Neuroimage Studies Including 18F-PM-PBB3 and 18F-florbetapir (AV-45) PET Examination Unknown status NCT04305210 Phase 2 F-18 PMPBB3;18F-florbetapir
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 Ataxia with Vitamin 3 Deficiency

Cochrane evidence based reviews: vitamin e deficiency

Genetic Tests for Ataxia with Vitamin 3 Deficiency

Genetic tests related to Ataxia with Vitamin 3 Deficiency:

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

Anatomical Context for Ataxia with Vitamin 3 Deficiency

MalaCards organs/tissues related to Ataxia with Vitamin 3 Deficiency:

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

Publications for Ataxia with Vitamin 3 Deficiency

Articles related to Ataxia with Vitamin 3 Deficiency:

(show top 50) (show all 86)
# Title Authors PMID Year
1
Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. 6 54 57 61
7719340 1995
2
A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia. 54 57 6
12470185 2002
3
Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency. 54 57 6
8602747 1996
4
A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency. 6 54 61
18458655 2008
5
Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. 61 54 6
15300460 2004
6
Ataxia with vitamin E deficiency and severe dystonia: report of a case. 61 6 54
12907280 2003
7
The molecular basis of vitamin E retention: structure of human alpha-tocopherol transfer protein. 6 61 54
12899840 2003
8
Familial ataxia with isolated vitamin E deficiency not due to mutation of alpha-TTP. 54 61 57
10552255 1999
9
Ataxia with isolated vitamin E deficiency: a Japanese family carrying a novel mutation in the alpha-tocopherol transfer protein gene. 61 54 6
10360777 1999
10
Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency. 61 54 57
9931538 1999
11
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia. 6 61
26068213 2015
12
Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients. 6 54
15953402 2005
13
Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. 6 61
9463307 1998
14
Ataxia with Vitamin E Deficiency May Present with Cervical Dystonia. 6
27274910 2016
15
Ataxia with vitamin e deficiency in norway. 6
25614784 2015
16
Normal spermatogenesis and sperm function in a subject affected by cerebellar ataxia due to congenital vitamin E deficiency. 6
23445347 2014
17
Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency. 6
24369383 2014
18
Epilepsy in a patient with ataxia caused by vitamin E deficiency. 6
22696689 2011
19
Ataxia with vitamin E deficiency in southeast Norway, case report. 6
19566498 2009
20
Autosomal recessive ataxia caused by three distinct gene defects in a single consanguineous family. 57
18569450 2008
21
Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families. 6
12039660 2002
22
Ataxia with vitamin E deficiency: refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families. 57
7726167 1995
23
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
24
Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. 57
8252047 1993
25
[Familial idiopathic vitamin E deficiency associated with cerebellar atrophy]. 57
2265507 1990
26
Impaired ability of patients with familial isolated vitamin E deficiency to incorporate alpha-tocopherol into lipoproteins secreted by the liver. 57
2298915 1990
27
Isolated vitamin E deficiency in the absence of fat malabsorption--familial and sporadic cases: characterization and investigation of causes. 57
3361234 1988
28
A treatable familial neuromyopathy with vitamin E deficiency, normal absorption, and evidence of increased consumption of vitamin E. 57
3141695 1988
29
Adult-onset spinocerebellar syndrome with idiopathic vitamin E deficiency. 57
3477125 1987
30
Isolated deficiency of vitamin E with progressive neurologic deterioration. 57
3822155 1987
31
Can ACG serve as an initiation codon for protein synthesis in eucaryotic cells? 6
3837850 1985
32
Spinocerebellar degeneration associated with a selective defect of vitamin E absorption. 57
4000224 1985
33
A progressive neurological syndrome associated with an isolated vitamin E deficiency. 57
6509402 1984
34
Neuromyopathy and vitamin E deficiency in man. 57
6945489 1981
35
Neuromuscular disease in patients with steatorrhoea. 57
6079812 1967
36
First case of ataxia with isolated vitamin E deficiency in the Netherlands. 61 54
17049453 2007
37
Delayed-onset ataxia in mice lacking alpha -tocopherol transfer protein: model for neuronal degeneration caused by chronic oxidative stress. 54 61
11752462 2001
38
alpha-Tocopherol transfer protein gene: exon skipping of all transcripts causes ataxia. 61 54
9270601 1997
39
A first description of ataxia with vitamin E deficiency associated with MT-TG gene mutation. 61
32979145 2020
40
Vitamin E - The Next 100 Years. 61
30550633 2019
41
Pediatric Ataxia: Focus on Chronic Disorders. 61
29735117 2018
42
Spastic ataxias. 61
29891058 2018
43
A Case of Ataxia with Isolated Vitamin E Deficiency Initially Diagnosed as Friedreich's Ataxia. 61
26989534 2016
44
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
45
Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E. 61
23622402 2013
46
[Autosomal recessive cerebellar ataxias]. 61
19442480 2009
47
Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients. 54
19141356 2009
48
Mechanisms of ligand transfer by the hepatic tocopherol transfer protein. 54
18458085 2008
49
[Familial hypobetalipoproteinemia secondary to a mutation in the apolipoprotein B gene]. 54
17517208 2007
50
Structure and function of alpha-tocopherol transfer protein: implications for vitamin E metabolism and AVED. 54
17628170 2007

Variations for Ataxia with Vitamin 3 Deficiency

ClinVar genetic disease variations for Ataxia with Vitamin 3 Deficiency:

6 (show top 50) (show all 105)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TTPA NM_000370.3(TTPA):c.19del (p.Gln7fs) Deletion Pathogenic 208623 rs760014795 GRCh37: 8:63998562-63998562
GRCh38: 8:63086003-63086003
2 TTPA NM_000370.3(TTPA):c.205-1G>T SNV Pathogenic 267261 rs886040963 GRCh37: 8:63985648-63985648
GRCh38: 8:63073089-63073089
3 TTPA NM_000370.3(TTPA):c.552+2T>A SNV Pathogenic 267262 rs886040964 GRCh37: 8:63978461-63978461
GRCh38: 8:63065902-63065902
4 TTPA NM_000370.3(TTPA):c.191A>G (p.Asp64Gly) SNV Pathogenic 65590 rs397515523 GRCh37: 8:63998390-63998390
GRCh38: 8:63085831-63085831
5 TTPA NM_000370.3(TTPA):c.303T>G (p.His101Gln) SNV Pathogenic 9137 rs121917849 GRCh37: 8:63985549-63985549
GRCh38: 8:63072990-63072990
6 TTPA NM_000370.3(TTPA):c.421G>A (p.Glu141Lys) SNV Pathogenic 65592 rs397515524 GRCh37: 8:63978594-63978594
GRCh38: 8:63066035-63066035
7 TTPA NM_000370.3(TTPA):c.530_531delinsGTAAGT (p.Lys177fs) Indel Pathogenic 65595 rs1554605631 GRCh37: 8:63978484-63978485
GRCh38: 8:63065925-63065926
8 TTPA NM_000370.3(TTPA):c.548T>C (p.Leu183Pro) SNV Pathogenic 65596 rs397515525 GRCh37: 8:63978467-63978467
GRCh38: 8:63065908-63065908
9 TTPA NM_000370.3(TTPA):c.736G>C (p.Gly246Arg) SNV Pathogenic 65598 rs397515526 GRCh37: 8:63973912-63973912
GRCh38: 8:63061353-63061353
10 TTPA NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs) Insertion Pathogenic 9139 rs397515379 GRCh37: 8:63978501-63978502
GRCh38: 8:63065942-63065943
11 TTPA NM_000370.3(TTPA):c.744del (p.Glu249fs) Deletion Pathogenic 9136 rs397515377 GRCh37: 8:63973904-63973904
GRCh38: 8:63061345-63061345
12 TTPA NM_000370.3(TTPA):c.400C>T (p.Arg134Ter) SNV Pathogenic/Likely pathogenic 9141 rs121917851 GRCh37: 8:63978615-63978615
GRCh38: 8:63066056-63066056
13 TTPA NM_000370.3(TTPA):c.487del (p.Trp163fs) Deletion Pathogenic/Likely pathogenic 188951 rs397515378 GRCh37: 8:63978528-63978528
GRCh38: 8:63065969-63065969
14 TTPA NM_000370.3(TTPA):c.205-1G>C SNV Pathogenic/Likely pathogenic 370407 rs886040963 GRCh37: 8:63985648-63985648
GRCh38: 8:63073089-63073089
15 TTPA NM_000370.3(TTPA):c.205-2A>G SNV Pathogenic/Likely pathogenic 370950 rs758349851 GRCh37: 8:63985649-63985649
GRCh38: 8:63073090-63073090
16 TTPA NM_000370.3(TTPA):c.2T>A (p.Met1Lys) SNV Likely pathogenic 371454 rs786204758 GRCh37: 8:63998579-63998579
GRCh38: 8:63086020-63086020
17 TTPA NM_000370.3(TTPA):c.552G>A (p.Thr184=) SNV Likely pathogenic 374211 rs181109321 GRCh37: 8:63978463-63978463
GRCh38: 8:63065904-63065904
18 TTPA NM_000370.3(TTPA):c.88_118del (p.Ala30fs) Deletion Likely pathogenic 550204 rs1554525125 GRCh37: 8:63998463-63998493
GRCh38: 8:63085904-63085934
19 TTPA NM_000370.3(TTPA):c.227_229delinsATT (p.Trp76_Arg77delinsTyrTer) Indel Likely pathogenic 551293 rs1554524061 GRCh37: 8:63985623-63985625
GRCh38: 8:63073064-63073066
20 TTPA NM_000370.3(TTPA):c.313A>T (p.Arg105Ter) SNV Likely pathogenic 370354 rs1057516423 GRCh37: 8:63985539-63985539
GRCh38: 8:63072980-63072980
21 TTPA NM_000370.3(TTPA):c.441del (p.Glu148fs) Deletion Likely pathogenic 371663 rs1057517448 GRCh37: 8:63978574-63978574
GRCh38: 8:63066015-63066015
22 TTPA NM_000370.3(TTPA):c.13C>T (p.Arg5Ter) SNV Likely pathogenic 370311 rs1008240677 GRCh37: 8:63998568-63998568
GRCh38: 8:63086009-63086009
23 TTPA NM_000370.3(TTPA):c.557C>A (p.Ser186Ter) SNV Likely pathogenic 557235 rs1554605498 GRCh37: 8:63976871-63976871
GRCh38: 8:63064312-63064312
24 TTPA NM_000370.3(TTPA):c.1A>T (p.Met1Leu) SNV Likely pathogenic 557555 rs1408863841 GRCh37: 8:63998580-63998580
GRCh38: 8:63086021-63086021
25 TTPA NM_000370.3(TTPA):c.83_105del (p.Leu28fs) Deletion Likely pathogenic 558725 rs1554525128 GRCh37: 8:63998476-63998498
GRCh38: 8:63085917-63085939
26 TTPA NM_000370.3(TTPA):c.339del (p.Val114fs) Deletion Likely pathogenic 633013 rs1563363293 GRCh37: 8:63985513-63985513
GRCh38: 8:63072954-63072954
27 TTPA NM_000370.3(TTPA):c.172G>C (p.Ala58Pro) SNV Likely pathogenic 802413 rs982650476 GRCh37: 8:63998409-63998409
GRCh38: 8:63085850-63085850
28 TTPA NM_000370.3(TTPA):c.575G>A (p.Arg192His) SNV Likely pathogenic 9140 rs121917850 GRCh37: 8:63976853-63976853
GRCh38: 8:63064294-63064294
29 TTPA NM_000370.3(TTPA):c.2T>C (p.Met1Thr) SNV Likely pathogenic 189186 rs786204758 GRCh37: 8:63998579-63998579
GRCh38: 8:63086020-63086020
30 TTPA NM_000370.3(TTPA):c.358G>A (p.Ala120Thr) SNV Conflicting interpretations of pathogenicity 65591 rs143010236 GRCh37: 8:63985494-63985494
GRCh38: 8:63072935-63072935
31 TTPA NM_000370.3(TTPA):c.635C>A (p.Pro212Gln) SNV Uncertain significance 911007 GRCh37: 8:63976793-63976793
GRCh38: 8:63064234-63064234
32 TTPA NM_000370.3(TTPA):c.36G>T (p.Pro12=) SNV Uncertain significance 724632 rs773911591 GRCh37: 8:63998545-63998545
GRCh38: 8:63085986-63085986
33 TTPA NM_000370.3(TTPA):c.401G>A (p.Arg134Gln) SNV Uncertain significance 991274 GRCh37: 8:63978614-63978614
GRCh38: 8:63066055-63066055
34 TTPA NM_000370.3(TTPA):c.221A>G (p.Tyr74Cys) SNV Uncertain significance 991275 GRCh37: 8:63985631-63985631
GRCh38: 8:63073072-63073072
35 TTPA NM_000370.3(TTPA):c.177G>C (p.Arg59=) SNV Uncertain significance 991596 GRCh37: 8:63998404-63998404
GRCh38: 8:63085845-63085845
36 TTPA NM_000370.3(TTPA):c.166C>T (p.Leu56=) SNV Uncertain significance 991597 GRCh37: 8:63998415-63998415
GRCh38: 8:63085856-63085856
37 TTPA NM_000370.3(TTPA):c.123G>A (p.Pro41=) SNV Uncertain significance 991598 GRCh37: 8:63998458-63998458
GRCh38: 8:63085899-63085899
38 TTPA NM_000370.3(TTPA):c.*769G>A SNV Uncertain significance 912172 GRCh37: 8:63973042-63973042
GRCh38: 8:63060483-63060483
39 TTPA NM_000370.3(TTPA):c.338A>G (p.Lys113Arg) SNV Uncertain significance 912239 GRCh37: 8:63985514-63985514
GRCh38: 8:63072955-63072955
40 TTPA NM_000370.3(TTPA):c.202C>A (p.Arg68=) SNV Uncertain significance 912240 GRCh37: 8:63998379-63998379
GRCh38: 8:63085820-63085820
41 TTPA NM_000370.3(TTPA):c.178G>A (p.Asp60Asn) SNV Uncertain significance 448838 rs199636231 GRCh37: 8:63998403-63998403
GRCh38: 8:63085844-63085844
42 TTPA NM_000370.3(TTPA):c.144C>G (p.Thr48=) SNV Uncertain significance 912241 GRCh37: 8:63998437-63998437
GRCh38: 8:63085878-63085878
43 TTPA NM_000370.3(TTPA):c.-18G>A SNV Uncertain significance 912242 GRCh37: 8:63998598-63998598
GRCh38: 8:63086039-63086039
44 TTPA NM_000370.3(TTPA):c.355A>G (p.Ile119Val) SNV Uncertain significance 727159 rs766200402 GRCh37: 8:63985497-63985497
GRCh38: 8:63072938-63072938
45 TTPA NM_000370.3(TTPA):c.272G>C (p.Ser91Thr) SNV Uncertain significance 805736 rs186021365 GRCh37: 8:63985580-63985580
GRCh38: 8:63073021-63073021
46 TTPA NM_000370.3(TTPA):c.117C>T (p.Gly39=) SNV Uncertain significance 754525 rs750576019 GRCh37: 8:63998464-63998464
GRCh38: 8:63085905-63085905
47 TTPA NM_000370.3(TTPA):c.661C>T (p.Arg221Trp) SNV Uncertain significance 65597 rs35916840 GRCh37: 8:63976767-63976767
GRCh38: 8:63064208-63064208
48 TTPA NM_000370.3(TTPA):c.*1598C>T SNV Uncertain significance 363532 rs886063059 GRCh37: 8:63972213-63972213
GRCh38: 8:63059654-63059654
49 TTPA NM_000370.3(TTPA):c.*806C>T SNV Uncertain significance 363546 rs752352118 GRCh37: 8:63973005-63973005
GRCh38: 8:63060446-63060446
50 TTPA NM_000370.3(TTPA):c.*452T>C SNV Uncertain significance 363552 rs886063066 GRCh37: 8:63973359-63973359
GRCh38: 8:63060800-63060800

UniProtKB/Swiss-Prot genetic disease variations for Ataxia with Vitamin 3 Deficiency:

72
# 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 Ataxia with Vitamin 3 Deficiency

Search GEO for disease gene expression data for Ataxia with Vitamin 3 Deficiency.

Pathways for Ataxia with Vitamin 3 Deficiency

GO Terms for Ataxia with Vitamin 3 Deficiency

Biological processes related to Ataxia with Vitamin 3 Deficiency 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 Ataxia with Vitamin 3 Deficiency 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 Ataxia with Vitamin 3 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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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