AVED
MCID: ATX019
MIFTS: 61

Ataxia with Vitamin E Deficiency (AVED)

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Ataxia with Vitamin E Deficiency

MalaCards integrated aliases for Ataxia with Vitamin E Deficiency:

Name: Ataxia with Vitamin E Deficiency 57 24 19 42 58 73 43 71
Ataxia with Isolated Vitamin E Deficiency 57 11 24 19 42 58 12
Familial Isolated Vitamin E Deficiency 11 24 19 42 58 73 75
Aved 57 24 19 42 58 73
Familial Isolated Deficiency of Vitamin E 11 19 28 5 14
Friedreich-Like Ataxia 57 24 19 42 58
Isolated Vitamin E Deficiency 19 58
Friedreich Ataxia Phenotype with Selective Vitamin E Deficiency 42
Ataxia, Friedreich-Like, with Selective Vitamin E Deficiency 57
Friedreich-Like Ataxia with Selective Vitamin E Deficiency 19
Ataxia Friedreich-Like with Selective Vitamin E Deficiency 73
Vitamin E Familial Isolated, Deficiency of 75
Vitamin E Deficiency, Familial Isolated 57
Five 42
Ved 57

Characteristics:


Inheritance:

Autosomal recessive 58 57

Prevelance:

1-9/1000000 (Europe) 58

Age Of Onset:

All ages 58

GeneReviews:

24
Penetrance Aved shows nearly complete penetrance in individuals who are homozygous or compound heterozygous for a ttpa pathogenic variant.

Classifications:

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


Summaries for Ataxia with Vitamin E Deficiency

MedlinePlus Genetics: 42 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.

MalaCards based summary: Ataxia with Vitamin E Deficiency, also known as ataxia with isolated vitamin e deficiency, is related to friedreich ataxia and aceruloplasminemia, and has symptoms including ataxia An important gene associated with Ataxia with Vitamin E Deficiency is TTPA (Alpha Tocopherol Transfer Protein), and among its related pathways/superpathways is Riboflavin and CoQ disorders. The drugs Lactitol and Iron have been mentioned in the context of this disorder. Affiliated tissues include eye, breast and prostate, and related phenotypes are abnormal pyramidal sign and muscle weakness

GARD: 19 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 peolple who have AVED may experience vision loss due to damage to the back of the eye. AVED is caused by a genetic change 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 damaging molecules called free radicals. AVED is inherited in an autosomal recessive manner.

Disease Ontology: 11 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.

Orphanet: 58 A neurodegenerative disease belonging to the inherited cerebellar ataxias mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E.

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

Wikipedia: 75 Familial isolated vitamin E deficiency or Ataxia with vitamin E deficiency (AVED) is a rare autosomal... more...

More information from OMIM: 277460
GeneReviews: NBK1241

Related Diseases for Ataxia with Vitamin E Deficiency

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

(show top 50) (show all 90)
# Related Disease Score Top Affiliating Genes
1 friedreich ataxia 30.5 TTPA SIL1 SETX FXN APTX
2 aceruloplasminemia 30.4 SETX FXN COQ8A
3 autosomal dominant cerebellar ataxia 30.0 TTPA SETX SACS FXN APTX
4 peripheral nervous system disease 30.0 SETX SACS FXN APTX
5 dystonia 29.9 VAC14 TTPA ATCAY APTX
6 autosomal recessive cerebellar ataxia 29.9 TTPA SETX SACS FXN COQ8A APTX
7 hereditary ataxia 29.9 TTPA SETX SACS FXN COQ8A APTX
8 spasticity 10.3
9 tabes dorsalis 10.2 TTPA FXN
10 dystonia 12 10.2
11 abetalipoproteinemia 10.2
12 cervical dystonia 10.2
13 sensory peripheral neuropathy 10.2
14 movement disease 10.2
15 neuropathy 10.2
16 tremor 10.2
17 vestibular nystagmus 10.2 TTPA APTX
18 oculomotor apraxia 10.2 SETX APTX
19 tertiary neurosyphilis 10.2 TTPA FXN
20 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 10.2 TTPA SACS
21 ataxia-oculomotor apraxia 3 10.2 SETX APTX
22 spinocerebellar ataxia, autosomal recessive 27 10.2 TTPA SETX
23 spinocerebellar ataxia, autosomal recessive 26 10.1 SETX APTX
24 atrial standstill 1 10.1
25 macular degeneration, age-related, 1 10.1
26 cerebral palsy, ataxic, autosomal recessive 10.1 SETX APTX
27 impotence 10.1
28 lichtenstein-knorr syndrome 10.1 TTPA SACS FXN
29 mitochondrial complex iii deficiency, nuclear type 2 10.1 TTPA SACS FXN
30 spinocerebellar ataxia, autosomal recessive 14 10.1 SACS COQ8A
31 spinocerebellar ataxia type 1 with axonal neuropathy 10.1 SETX APTX
32 spastic paraplegia 7, autosomal recessive 10.1 TTPA SETX SACS
33 alzheimer disease, familial, 1 10.1
34 down syndrome 10.1
35 retinitis pigmentosa 10.1
36 dystonia 3, torsion, x-linked 10.1
37 parkinsonism 10.1
38 sensorineural hearing loss 10.1
39 retinitis 10.1
40 liver disease 10.1
41 immune-mediated thrombotic thrombocytopenic purpura 10.1
42 apraxia 10.1 SIL1 SETX APTX
43 cerebellar ataxia, cayman type 10.1 TTPA ATCAY
44 amyotrophic lateral sclerosis 4, juvenile 10.1 SETX APTX
45 ehlers-danlos syndrome, vascular type 10.0
46 type 1 diabetes mellitus 10.0
47 choreatic disease 10.0 SETX FXN APTX
48 coenzyme q10 deficiency disease 10.0 SACS COQ8A APTX
49 axonal neuropathy 10.0
50 mitochondrial disease 10.0

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:

58 30 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal pyramidal sign 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0007256
2 muscle weakness 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001324
3 areflexia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001284
4 scoliosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002650
5 nystagmus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000639
6 dysarthria 58 30 Very rare (1%) Frequent (79-30%)
HP:0001260
7 gait disturbance 58 30 Very rare (1%) Frequent (79-30%)
HP:0001288
8 dysmetria 58 30 Very rare (1%) Frequent (79-30%)
HP:0001310
9 nyctalopia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000662
10 sensory neuropathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0000763
11 pes cavus 58 30 Frequent (33%) Frequent (79-30%)
HP:0001761
12 dysdiadochokinesis 58 30 Very rare (1%) Frequent (79-30%)
HP:0002075
13 tremor 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001337
14 diabetes mellitus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000819
15 developmental regression 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002376
16 visual impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000505
17 abnormality of retinal pigmentation 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007703
18 abnormality of visual evoked potentials 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000649
19 hypertonia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001276
20 skeletal muscle atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003202
21 hypertrophic cardiomyopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001639
22 hemiplegia/hemiparesis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0004374
23 arrhythmia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0011675
24 mental deterioration 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001268
25 dystonia 58 30 Very rare (1%) Occasional (29-5%)
HP:0001332
26 low levels of vitamin e 30 Very rare (1%) HP:0100513
27 positive romberg sign 30 Very rare (1%) HP:0002403
28 cerebellar atrophy 30 Very rare (1%) HP:0001272
29 clumsiness 30 Very rare (1%) HP:0002312
30 progressive cerebellar ataxia 30 Very rare (1%) HP:0002073
31 perseveration 30 Very rare (1%) HP:0030223
32 abnormality of central somatosensory evoked potentials 30 Very rare (1%) HP:0100291
33 short term memory impairment 30 Very rare (1%) HP:0033687
34 neurological speech impairment 58 Frequent (79-30%)
35 ataxia 58 Very frequent (99-80%)
36 hypertriglyceridemia 30 HP:0002155
37 increased ldl cholesterol concentration 30 HP:0003141
38 hypercholesterolemia 30 HP:0003124
39 peripheral neuropathy 58 Very frequent (99-80%)
40 xanthelasma 30 HP:0001114
41 tendon xanthomatosis 30 HP:0010874

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

UMLS symptoms related to Ataxia with Vitamin E Deficiency:


ataxia

MGI Mouse Phenotypes related to Ataxia with Vitamin E Deficiency:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.65 APTX ATCAY COQ8A FXN SACS SETX
2 behavior/neurological MP:0005386 9.36 APTX ATCAY COQ8A DMGDH FXN SACS

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 534)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lactitol Approved, Investigational Phase 4 585-86-4 157355
2
Iron Approved Phase 4 7439-89-6 29936
3
Acetaminophen Approved Phase 4 103-90-2 1983
4
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
5
Racivir Approved, Investigational Phase 4 143491-57-0, 143491-54-7 60877
6
Glucagon Approved Phase 4 16941-32-5 16133228 16186314
7
Zinc cation Approved, Experimental, Investigational Phase 4 7440-66-6, 23713-49-7 32051
8
Mupirocin Approved, Investigational, Vet_approved Phase 4 12650-69-0 446596
9
Amlodipine Approved Phase 4 88150-42-9 2162
10
Metoprolol Approved, Investigational Phase 4 37350-58-6, 51384-51-1 4171
11
Tamsulosin Approved, Investigational Phase 4 106133-20-4 129211
12
Retapamulin Approved Phase 4 224452-66-8 6918462
13
Racepinephrine Approved, Vet_approved Phase 4 51-43-4, 329-65-7 838 5816
14
Amifostine Approved, Investigational Phase 4 20537-88-6 2141
15
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3 3680
16
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 3003 5743
17
Acetylsalicylic acid Approved, Vet_approved Phase 4 50-78-2 2244
18
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
19
Esmolol Approved, Withdrawn Phase 4 103598-03-4, 81147-92-4 59768
20
Meloxicam Approved, Vet_approved Phase 4 71125-38-7 54677470 5281106
21
Nimesulide Approved, Investigational, Withdrawn Phase 4 51803-78-2 4495
22
Diclofenac Approved, Vet_approved Phase 4 15307-86-5, 15307-79-6 3033
23
Zinc sulfate Approved, Investigational Phase 4 7733-02-0
24
Levoleucovorin Approved, Experimental, Investigational Phase 4 68538-85-2, 58-05-9, 73951-54-9 149436 6006
25
Amodiaquine Approved, Investigational Phase 4 86-42-0 2165
26
Pyrimethamine Approved, Investigational, Vet_approved Phase 4 58-14-0, 19085-09-7 4993
27
Sulfadoxine Approved, Investigational Phase 4 2447-57-6 17134
28
Artenimol Approved, Experimental, Investigational Phase 4 71939-50-9 540327
29
Artemether Approved Phase 4 71963-77-4 68911 9796294
30
Lumefantrine Approved Phase 4 82186-77-4 6437380
31
Piperaquine Approved, Experimental, Investigational Phase 4 4085-31-8
32
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
33
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 4 439-14-5 3016
34
Artesunate Approved, Investigational Phase 4 88495-63-0 6917864 5464098
35
Epoprostenol Approved Phase 4 61849-14-7, 35121-78-9 5282411
36
Treprostinil Approved, Investigational Phase 4 81846-19-7 6918140
37
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
38
Ofloxacin Approved Phase 4 82419-36-1 4583
39
Ascorbic acid Approved, Nutraceutical Phase 4 50-81-7 54676860 54670067 5785
40
Folic acid Approved, Nutraceutical, Vet_approved Phase 4 59-30-3 6037
41
Tenofovir Experimental, Investigational Phase 4 147127-20-6, 202138-50-9 464205 6398764
42
Pyronaridine Investigational Phase 4 74847-35-1 5485198
43
Tezosentan Investigational Phase 4 180384-57-0
44 Antipsychotic Agents Phase 4
45 Adrenergic Agents Phase 4
46 Hormones Phase 4
47 Calcium, Dietary Phase 4
48 Liver Extracts Phase 4
49 Analgesics Phase 4
50 Hormone Antagonists Phase 4

Interventional clinical trials:

(show top 50) (show all 497)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 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
4 A Single Blind, Multicentric, Comparative, Vaccine Interchangeability Trial of Shan 5 (Liquid) and Easy Five (Liquid) [Diphtheria-Tetanus- Pertussis, Hepatitis B and Hib Pentavalent Combination Vaccines] in Indian Infants. Completed NCT00674908 Phase 4
5 A Randomized Controlled Trial of a Weekly Schedule of Five Consecutive Days on Treatment With Efavirenz, Tenofovir, and Emtricitabine Followed by Two Days Off Treatment (5/2 Intermittent Treatment Schedule) Versus Continuous Treatment in Individuals With Virologic Suppression on This Combination Completed NCT00414635 Phase 4 Intermitent Dosing
6 Pilot Clinical Trial of ACTHar Gel 14 Days Subcutaneous (SQ) Versus ACTHar Gel Five Days SQ for the Treatment of MS Exacerbations Completed NCT01888354 Phase 4 H.P. Acthar Gel (repository corticotropin injection)
7 A Single Centre, Open, Non-controlled Study in Healthy Subjects to Assess the Eradication of Nasal Carriage of Staphylococcus Aureus (SA) Following a Five Day Course of Mupirocin (Bactroban 2% Nasal Ointment) Using a Broth Enriched Culture Microbiological Assessment. Completed NCT02284555 Phase 4 Mupirocin
8 A Five-arm, Randomised, Open Label, Multi-centre, Prospective Study to Compare the Efficacy, Safety and Tolerability of Metoprolol XL Plus Amlodipine Combination (Selomax TM) With Metoprolol XL and Amlodipine as Individual Components in Management of Hypertension in Indian Patients. Completed NCT00819104 Phase 4 Metoprolol XL 50mg + Amlodipine 5mg;Metoprolol XL 25 mg + Amlodipine 2.5mg;Metoprolol XL 50mg;Metoprolol XL 25 mg;Amlodipine 5mg
9 Parasite Clearance Time and Time to Recurrent Infection Following Treatment With Artemether/Lumefantrine Among Children With Uncomplicated P. Falciparum Malaria Five Years After Wide Scale Use of the Drug in Tanzania Completed NCT01998295 Phase 4 Artemether/lumefantrine
10 A Phase IV, Uncontrolled, Open-Label, Multi-Center Study in Children and Adolescents: Evaluation of Long-Term Immunogenicity in Subjects Boosted With a New Pediatric TBE Vaccine (Free of Protein-Derived Stabilizer) in Study V48P4E1, Five Years After First Booster Immunization Completed NCT00452621 Phase 4
11 Efficacy of Artemether/Lumefantrine for the Treatment of Uncomplicated Plasmodium Falciparum Malaria in Children Five Years After Wide Scale Use of the Drug in Tanzania. Completed NCT02089841 Phase 4 Artemether-lumefantrine
12 Hepatic Function Following Five Days of Therapeutic Dosing of Acetaminophen in Alcoholics Completed NCT00427206 Phase 4 acetaminophen (4g/day);placebo
13 Randomized Clinical Trial of Posterior Retroperitoneoscopic Adrenalectomy Versus Lateral Transperitoneal Laparoscopic Adrenalectomy With a Five-year Follow-up Completed NCT01959711 Phase 4
14 A Forty-Five Day, Open-label Study of the Symptomatic Relief Effects of FLOMAX® Capsules 0.4 mg Daily in Patients With the Signs and Symptoms of Benign Prostatic Hyperplasia Completed NCT02244242 Phase 4 Tamsulosin hydrochloride
15 An Open-Label, Non-Comparative Study to Assess the Pharmacokinetics, Safety and Efficacy of Topical Retapamulin (SB-275833) Ointment, 1%, Twice Daily for Five Days in the Treatment of Uncomplicated Skin and Skin Structure Infections in Pediatric Subjects Aged 2 to 24 Months Completed NCT00555061 Phase 4 Retapamulin Ointment, 1%
16 A Randomized Open-Label Trial of the Efficacy of Artemether-Lumefantrine Suspension Compared With Artemether-Lumefantrine Tablets for the Treatment of Uncomplicated Plasmodium Falciparum Malaria in Children Less Than Five Years in Western Kenya Completed NCT00529867 Phase 4 Artemether/lumefantrine tablets;Artemether/Lumefantrine suspension
17 Impact of Improved Financial Access to Health Care on Morbidity Due to Severe Malaria and Healthcare Utilization Among Children 6 Months to Five Years of Age in a Hyper Endemic Area in Ghana: a Randomized Controlled Trial Completed NCT00146692 Phase 4
18 Comparison of the Outcomes of Ultra-Short Anatomic and Conventional Cementless Stems in Patients Younger Than Fifty-Five Years Old Completed NCT02338596 Phase 4
19 A Phase IV Open Label Study of the Effects of a Five Minute Infusion Time for Ethyol (Amifostine) in Patients Undergoing Chemotherapy Completed NCT00003252 Phase 4 amifostine trihydrate
20 Hospitalization and Mortality in Iron Deficient, Anemic Patients With Chronic Kidney (CKD) and Heart Failure Receiving Intravenous Iron Therapy: A Five Year Follow-up From a Pilot Study Completed NCT02392910 Phase 4 Iron Sucrose;Placebo
21 Phase IV Study to Compare the Accuracy and Precission of Five Different Home Glucose Monitors;Optium Xceed, Contour Ts, Accu-chek Go, One Touch Select and Ez Smart Completed NCT01013402 Phase 4 Human insulin;Human Insulin
22 A Two-arm, Multicenter, Randomized, Double-blind, Single Dose Placebo-controlled Parallel Groups Study Evaluating Efficacy and Tolerability of 800 mg Acetylsalicylic Acid (Aspirina® C) in Adult Patients With a Common Cold During a Two Hour in Patient Phase; and a Follow-up Period of Five Days of Home Treatment as Required Completed NCT01033526 Phase 4 Aspirin (Acetylsalicylic acid, BAYE4465);Placebo
23 A Randomized, Participant-blinded Five-arm Crossover Study With Blinded Outcome Assessment Investigating Glucagon's Cardiovascular Effects With and Without Beta-blocker-induced Cardioinhibition. Completed NCT03533179 Phase 4 Glucagon;Esmolol;Physiologic saline - glucagon dummy;Physiologic saline - esmolol dummy
24 A Comparison of Five Airway Clearance Techniques in the Treatment of Adults With Cystic Fibrosis Completed NCT00890370 Phase 4
25 A Randomized Double-Blind Controlled Trial of Single Oral Dose Dexamethasone Versus Five Days of Oral Prednisone in Acute Mild to Moderate Adult Asthma Completed NCT01241006 Phase 4 Dexamethasone;Prednisone
26 Five-Year Outcome of Ceramic on Ceramic Bearing Versus Ceramic on Crossfire® Highly Cross-Linked Polyethylene Bearing in Primary Total Hip Arthroplasty: A Randomized Trial Completed NCT01522014 Phase 4
27 Home and Community Management of Fevers/Malaria and Pneumonia in Children Under-five: a Cluster Randomised Controlled Trial of an Integrated Approach in a Rural District of Burkina Faso Completed NCT02151578 Phase 4
28 Randomized, Open-label, Controlled Trial to Assess the Clinical Efficacy and Safety of Meloxicam Suspension 0.25 mg/kg/Day Once a Day, Versus Diclofenac 1 mg/kg/Day Twice a Day or Nimesulide 4 mg/kg/Day Twice a Day, for Five Days in the Treatment of Patients With Acute, Non-bacterial Pharyngitis, Pharyngotonsillitis or Laryngitis Completed NCT02229747 Phase 4 Meloxicam;Diclofenac;Nimesulide
29 The Effect of Daily Zinc Supplementation on Prevention of Diarrhea and Acute Respiratory Infections Among Children Less Than Five Years: A Randomized Controlled Trial Completed NCT05002101 Phase 4 Placebo
30 A Randomized Comparison of Five Low Volume Bowel Preparations for Colonoscopy Completed NCT01719653 Phase 4 MiraLAX;MoviPrep;SUPREP
31 A Phase 4, Randomized, Double-blind, Double-dummy, Placebo and Active-controlled, Single-dose, Five-way Crossover Study Evaluating the Abuse Potential of Three Doses of NEURONTIN® Taken Orally in Healthy, Non-drug Dependent Participants With Sedative Drug Abuse Experience Recruiting NCT04570436 Phase 4 gabapentin 600 mg;gabapentin 1200 mg;gabapentin 1800 mg;diazepam 20 mg
32 Monitoring the Therapeutic Efficacy of the Combinations Artemether-Lumefantrine, Amodiaquine-Artesunate, Dihydroartemisinin-Piperaquine, and Pironaridine-Artesunate in the Treatment of Uncomplicated Plasmodium Falciparum Malaria in Children Under 5 Years of Age in Five Sentinel Sites in Mozambique Recruiting NCT05343312 Phase 4 AL (Coartem);AS-AQ (Carsucam);DHP;PA
33 A Hybrid Effectiveness-implementation Study to Assess the Effectiveness and Chemoprevention Efficacy of Implementing Seasonal Malaria Chemoprevention in Five Districts in Karamoja Region, Uganda Recruiting NCT05323721 Phase 4 Sulfadoxine pyrimethamine and amodiaquine;dihydroartemisinin-piperaquine
34 Rapid Switch From Intravenous Epoprostenol to Intravenous Remodulin® (Treprostinil Sodium) Using the Crono Five Ambulatory Infusion Pump in Patients With Stable Pulmonary Arterial Hypertension (PAH): Safety, Efficacy and Treatment Satisfaction Terminated NCT00439946 Phase 4 treprostinil
35 TREATMENT OF COMPLICATED URINARY INFECTION WITH FIVE DAY HIGH DOSE LEVOFLOXACIN Terminated NCT00245791 Phase 4 Levofloxacin
36 A Double-blind Placebo-controlled Trial of Dietary Supplementation With 15g/Day FOS for Five Weeks in Patients With Endometrial/Cervical Carcinoma or 7.5 Weeks in Patients With Prostate Carcinoma Undergoing Pelvic Radiotherapy. Unknown status NCT01414517 Phase 3
37 Testing Decision Aids to Improve Prostate Cancer Decisions for Minority Men Completed NCT03103321 Phase 3
38 A Double Blind Randomization to Letrozole or Placebo for Women Previously Diagnosed With Primary Breast Cancer Completing Five Years of Adjuvant Aromatase Inhibitor Either as Initial Therapy or After Tamoxifen (Including Those in The MA.17 Study) Completed NCT00754845 Phase 3 letrozole
39 An Optional Prospective Follow-on Study to Evaluate the Continued Efficacy and Safety of Cat-PAD in Cat Allergic Subjects up to Five Years After the Administration of Treatment Completed NCT02040844 Phase 3 Received Cat-PAD Treatment 1 in Study CP007 [NCT01620762];Received Cat-PAD Treatment 2 in Study CP007 [NCT01620762];Received Cat-PAD Treatment 3 in Study CP007 [NCT01620762]
40 The "EMBRACE" Trial: Eisai Metastatic Breast Cancer Study Assessing Physician's Choice Versus E7389. A Phase III Open-Label, Randomized, Parallel, Two-arm, Multi-center Study of E7389 Versus "Treatment of Physician's Choice" in Patients With Locally Recurrent, Metastatic Breast Cancer, Previously Treated With At Least Two and a Maximum of Five Prior Chemotherapy Regimens, Including an Anthracycline and a Taxane Completed NCT00388726 Phase 3 E7389;Physician's Choice
41 Safety, Immunogenicity and Lot Comparability of DAPTACEL™ (Aventis Pasteur Classic Five-component Pertussis Vaccine in Combination With Tetanus and Diphtheria Toxoids Adsorbed) When Administered With Other Recommended Vaccines at 2, 4, 6, and 15 to 16 Months of Age. Completed NCT00662870 Phase 3
42 A Comparative Randomized, Double-blind, Double-Dummy, Multicenter Study of the Efficacy and Safety of Miconazole Lauriad 50mg Administered Once a Day and Mycelex Troches (Clotrimazole 10mg) Administered Five Times a Day in the Treatment of Oropharyngeal Candidiasis in Immunocompromised Patients Completed NCT00390780 Phase 3 miconazole Lauriad;Clotrimazole
43 Ceftriaxone Versus Chloramphenicol for Treatment of Severe Pneumonia in Children Aged Less Than Five Years at Mulago Hospital: A Randomized Controlled Trial Completed NCT00372541 Phase 3 ceftriaxone
44 A Multicenter, Double-blind, Randomized, Cross-over Study to Investigate the Efficacy of Gynodian® Depot i.m. Compared to 4 mg Estradiol Valerate i.m. Both Given Every Four Weeks for Five Months Combined With 5 mg Medroxyprogesterone Acetate Orally in Postmeno-pausal Women With Impaired Well-being, Mood and Sexuality Completed NCT00463450 Phase 3 Gynodian® Depot (BAY86-5032);BAY86-4980
45 A Multi-Center, Randomized, Double-Blind, Placebo-Controlled, Five-Arm Parallel-Group Trial to Investigate the Efficacy and Safety of Four Different Transdermal Doses of Rotigotine in Subjects With Idiopathic Restless Legs Syndrome Completed NCT00135993 Phase 3 Rotigotine
46 Phase III Trial of Five Versus Six Fractions Per Week for Head and Neck Cancer Completed NCT00120211 Phase 3
47 A Randomized Trial Evaluating The Effect Of Exemestane In Clinical Stage T1-3 N0-1 M0 Postmenopausal Breast Cancer Patients Completing At Least Five Years Of Tamoxifen Therapy Completed NCT00016432 Phase 3 exemestane;Placebo
48 An Open-label, 8-Week Study to Compare the Comfort and Ease of Use of Five Different Treatment Regimens for CNTX-4975-05 Intra-articular Injection in Subjects With Chronic, Moderate-to-Severe Osteoarthritis Knee Pain Completed NCT03661996 Phase 3 CNTX-4975-05;Lidocaine without epinephrine
49 Verorab® Immunogenicity and Safety After a One-week, 4-site, Intradermal (ID) Post-exposure Prophylaxis Regimen (4-4-4-0-0) Followed by a One-visit, 4-site, ID Booster at Five Years Completed NCT01622062 Phase 3
50 Multicentric Pragmatic Randomized Controled Trial to Evaluate the Efficacy Chloroquine or Hydroxychloroquine for Five Days in Treating Pneumonia Caused by SARS-Cov-2 - COVID-19 Completed NCT04420247 Phase 3 Chloroquine;Hydroxychloroquine

Search NIH Clinical Center for Ataxia with Vitamin E Deficiency

Cochrane evidence based reviews: ataxia with vitamin e deficiency

Genetic Tests for Ataxia with Vitamin E Deficiency

Genetic tests related to Ataxia with Vitamin E Deficiency:

# Genetic test Affiliating Genes
1 Familial Isolated Deficiency of Vitamin E 28 TTPA

Anatomical Context for Ataxia with Vitamin E Deficiency

Organs/tissues related to Ataxia with Vitamin E Deficiency:

MalaCards : Eye, Breast, Prostate, Lung, Liver, Bone, Bone Marrow

Publications for Ataxia with Vitamin E Deficiency

Articles related to Ataxia with Vitamin E Deficiency:

(show top 50) (show all 30207)
# Title Authors PMID Year
1
Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency. 62 24 57 5
9931538 1999
2
Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency. 62 24 57 5
8602747 1996
3
Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. 62 24 57 5
7719340 1995
4
A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia. 62 57 5
12470185 2002
5
Ataxia with Vitamin E Deficiency May Present with Cervical Dystonia. 62 24 5
27274910 2016
6
Ataxia with vitamin e deficiency in norway. 62 24 5
25614784 2015
7
Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency. 62 24 5
24369383 2014
8
Biochemical consequences of heritable mutations in the alpha-tocopherol transfer protein. 62 24 5
16819822 2006
9
Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients. 62 24 5
15953402 2005
10
Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. 62 24 5
15300460 2004
11
Molecular determinants of heritable vitamin E deficiency. 62 24 5
15065857 2004
12
The molecular basis of vitamin E retention: structure of human alpha-tocopherol transfer protein. 62 24 5
12899840 2003
13
Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families. 62 24 5
12039660 2002
14
Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. 62 24 5
9463307 1998
15
Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. 62 24 57
8252047 1993
16
Impaired ability of patients with familial isolated vitamin E deficiency to incorporate alpha-tocopherol into lipoproteins secreted by the liver. 62 24 57
2298915 1990
17
Spinocerebellar degeneration associated with a selective defect of vitamin E absorption. 24 57
4000224 1985
18
Neuromyopathy and vitamin E deficiency in man. 24 57
6945489 1981
19
Ataxia with vitamin E deficiency in the Philippines : A case report of two siblings. 62 5
34759169 2021
20
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia. 62 5
26068213 2015
21
Normal spermatogenesis and sperm function in a subject affected by cerebellar ataxia due to congenital vitamin E deficiency. 62 5
23445347 2014
22
Ataxia with vitamin E deficiency in southeast Norway, case report. 62 5
19566498 2009
23
A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency. 62 5
18458655 2008
24
Mechanisms of ligand transfer by the hepatic tocopherol transfer protein. 62 5
18458085 2008
25
Autosomal recessive ataxia caused by three distinct gene defects in a single consanguineous family. 62 57
18569450 2008
26
Ataxia with vitamin E deficiency and severe dystonia: report of a case. 62 5
12907280 2003
27
Familial ataxia with isolated vitamin E deficiency not due to mutation of alpha-TTP. 62 57
10552255 1999
28
Ataxia with isolated vitamin E deficiency: a Japanese family carrying a novel mutation in the alpha-tocopherol transfer protein gene. 62 5
10360777 1999
29
alpha-Tocopherol transfer protein gene: exon skipping of all transcripts causes ataxia. 62 5
9270601 1997
30
Ataxia with vitamin E deficiency: refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families. 62 57
7726167 1995
31
Isolated vitamin E deficiency in the absence of fat malabsorption--familial and sporadic cases: characterization and investigation of causes. 62 57
3361234 1988
32
A progressive neurological syndrome associated with an isolated vitamin E deficiency. 62 57
6509402 1984
33
Whole exome and targeted gene sequencing to detect pathogenic recessive variants in early onset cerebellar ataxia. 5
31429931 2019
34
Epilepsy in a patient with ataxia caused by vitamin E deficiency. 5
22696689 2011
35
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. 62 24
19440741 2010
36
Ataxia with vitamin E deficiency associated with deafness. 62 24
19102053 2008
37
Prevalence of inherited ataxias in the province of Padua, Italy. 62 24
15297793 2004
38
Crystal structure of human alpha-tocopherol transfer protein bound to its ligand: implications for ataxia with vitamin E deficiency. 62 24
14657365 2003
39
Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency. 62 24
11554913 2001
40
Ataxia with vitamin E deficiency: biochemical effects of malcompliance with vitamin E therapy. 62 24
11094124 2000
41
Ataxia caused by mutations in the alpha-tocopherol transfer protein gene. 62 24
10896705 2000
42
Localization of alpha-tocopherol transfer protein in the brains of patients with ataxia with vitamin E deficiency and other oxidative stress related neurodegenerative disorders. 62 24
10082886 1999
43
Affinity for alpha-tocopherol transfer protein as a determinant of the biological activities of vitamin E analogs. 62 24
9199513 1997
44
Friedreich's ataxia with isolated vitamin E deficiency: a neuropathological study of a Tunisian patient. 62 24
9194904 1997
45
Ataxia with isolated vitamin E deficiency in four siblings. 62 24
8972536 1996
46
Adult-onset spinocerebellar dysfunction caused by a mutation in the gene for the alpha-tocopherol-transfer protein. 62 24
7566022 1995
47
Familial isolated vitamin E deficiency. Extensive study of a large family with a 5-year therapeutic follow-up. 62 24
7474901 1995
48
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
49
Impaired discrimination between stereoisomers of alpha-tocopherol in patients with familial isolated vitamin E deficiency. 62 24
8429255 1993
50
[Familial idiopathic vitamin E deficiency associated with cerebellar atrophy]. 57
2265507 1990

Variations for Ataxia with Vitamin E Deficiency

ClinVar genetic disease variations for Ataxia with Vitamin E Deficiency:

5 (show top 50) (show all 118)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TTPA NM_000370.3(TTPA):c.530_531delinsGTAAGT (p.Lys177fs) INDEL Pathogenic
65595 rs1554605631 GRCh37: 8:63978484-63978485
GRCh38: 8:63065925-63065926
2 TTPA NM_000370.3(TTPA):c.384del (p.Ala129fs) DEL Pathogenic
1323726 GRCh37: 8:63978631-63978631
GRCh38: 8:63066072-63066072
3 TTPA NM_000370.3(TTPA):c.553-1G>T SNV Pathogenic
1027489 GRCh37: 8:63976876-63976876
GRCh38: 8:63064317-63064317
4 TTPA NM_000370.3(TTPA):c.19del (p.Gln7fs) DEL Pathogenic
208623 rs760014795 GRCh37: 8:63998562-63998562
GRCh38: 8:63086003-63086003
5 TTPA NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs) INSERT Pathogenic
9139 rs397515379 GRCh37: 8:63978501-63978502
GRCh38: 8:63065942-63065943
6 TTPA NM_000370.3(TTPA):c.744del (p.Glu249fs) DEL Pathogenic
9136 rs397515377 GRCh37: 8:63973904-63973904
GRCh38: 8:63061345-63061345
7 TTPA NM_000370.3(TTPA):c.205-1G>C SNV Pathogenic
370407 rs886040963 GRCh37: 8:63985648-63985648
GRCh38: 8:63073089-63073089
8 TTPA NM_000370.3(TTPA):c.400C>T (p.Arg134Ter) SNV Pathogenic/Likely Pathogenic
9141 rs121917851 GRCh37: 8:63978615-63978615
GRCh38: 8:63066056-63066056
9 TTPA NM_000370.3(TTPA):c.487del (p.Trp163fs) DEL Pathogenic/Likely Pathogenic
188951 rs397515378 GRCh37: 8:63978528-63978528
GRCh38: 8:63065969-63065969
10 TTPA NM_000370.3(TTPA):c.552G>A (p.Thr184=) SNV Pathogenic/Likely Pathogenic
374211 rs181109321 GRCh37: 8:63978463-63978463
GRCh38: 8:63065904-63065904
11 TTPA NM_000370.3(TTPA):c.2T>A (p.Met1Lys) SNV Likely Pathogenic
371454 rs786204758 GRCh37: 8:63998579-63998579
GRCh38: 8:63086020-63086020
12 TTPA NM_000370.3(TTPA):c.575G>A (p.Arg192His) SNV Likely Pathogenic
9140 rs121917850 GRCh37: 8:63976853-63976853
GRCh38: 8:63064294-63064294
13 TTPA NM_000370.3(TTPA):c.438_439delinsCGATCACAGATGTGTA (p.Glu146fs) INDEL Likely Pathogenic
1725231 GRCh37: 8:63978576-63978577
GRCh38: 8:63066017-63066018
14 TTPA NM_000370.3(TTPA):c.467_469delinsT (p.Ala156fs) INDEL Likely Pathogenic
1725390 GRCh37: 8:63978546-63978548
GRCh38: 8:63065987-63065989
15 TTPA NM_000370.3(TTPA):c.148delinsATG (p.Ser50fs) INDEL Likely Pathogenic
1725841 GRCh37: 8:63998433-63998433
GRCh38: 8:63085874-63085874
16 TTPA NM_000370.3(TTPA):c.88_118del (p.Ala30fs) DEL Likely Pathogenic
550204 rs1554525125 GRCh37: 8:63998463-63998493
GRCh38: 8:63085904-63085934
17 TTPA NM_000370.3(TTPA):c.2T>C (p.Met1Thr) SNV Likely Pathogenic
189186 rs786204758 GRCh37: 8:63998579-63998579
GRCh38: 8:63086020-63086020
18 TTPA NM_000370.3(TTPA):c.83_105del (p.Leu28fs) DEL Likely Pathogenic
558725 rs1554525128 GRCh37: 8:63998476-63998498
GRCh38: 8:63085917-63085939
19 TTPA NM_000370.3(TTPA):c.339del (p.Val114fs) DEL Likely Pathogenic
633013 rs1563363293 GRCh37: 8:63985513-63985513
GRCh38: 8:63072954-63072954
20 TTPA NM_000370.3(TTPA):c.172G>C (p.Ala58Pro) SNV Likely Pathogenic
802413 rs982650476 GRCh37: 8:63998409-63998409
GRCh38: 8:63085850-63085850
21 TTPA NM_000370.3(TTPA):c.313A>T (p.Arg105Ter) SNV Likely Pathogenic
370354 rs1057516423 GRCh37: 8:63985539-63985539
GRCh38: 8:63072980-63072980
22 TTPA NM_000370.3(TTPA):c.441del (p.Glu148fs) DEL Likely Pathogenic
371663 rs1057517448 GRCh37: 8:63978574-63978574
GRCh38: 8:63066015-63066015
23 TTPA NM_000370.3(TTPA):c.13C>T (p.Arg5Ter) SNV Likely Pathogenic
370311 rs1008240677 GRCh37: 8:63998568-63998568
GRCh38: 8:63086009-63086009
24 TTPA NM_000370.3(TTPA):c.205-2A>G SNV Likely Pathogenic
370950 rs758349851 GRCh37: 8:63985649-63985649
GRCh38: 8:63073090-63073090
25 TTPA NM_000370.3(TTPA):c.227_229delinsATT (p.Trp76_Arg77delinsTyrTer) INDEL Likely Pathogenic
551293 rs1554524061 GRCh37: 8:63985623-63985625
GRCh38: 8:63073064-63073066
26 TTPA NM_000370.3(TTPA):c.557C>A (p.Ser186Ter) SNV Likely Pathogenic
557235 rs1554605498 GRCh37: 8:63976871-63976871
GRCh38: 8:63064312-63064312
27 TTPA NM_000370.3(TTPA):c.1A>T (p.Met1Leu) SNV Likely Pathogenic
557555 rs1408863841 GRCh37: 8:63998580-63998580
GRCh38: 8:63086021-63086021
28 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
29 TTPA NM_000370.3(TTPA):c.661C>T (p.Arg221Trp) SNV Conflicting Interpretations Of Pathogenicity
65597 rs35916840 GRCh37: 8:63976767-63976767
GRCh38: 8:63064208-63064208
30 TTPA NM_000370.3(TTPA):c.635C>A (p.Pro212Gln) SNV Uncertain Significance
911007 rs141163645 GRCh37: 8:63976793-63976793
GRCh38: 8:63064234-63064234
31 TTPA NM_000370.3(TTPA):c.254_259dup (p.Asp86_Leu87insProAsp) DUP Uncertain Significance
556751 rs1554524054 GRCh37: 8:63985592-63985593
GRCh38: 8:63073033-63073034
32 TTPA NM_000370.3(TTPA):c.452G>A (p.Arg151Gln) SNV Uncertain Significance
363561 rs150710403 GRCh37: 8:63978563-63978563
GRCh38: 8:63066004-63066004
33 TTPA NM_000370.3(TTPA):c.175C>T (p.Arg59Trp) SNV Uncertain Significance
65589 rs397515522 GRCh37: 8:63998406-63998406
GRCh38: 8:63085847-63085847
34 TTPA NM_000370.3(TTPA):c.558A>G (p.Ser186=) SNV Uncertain Significance
586911 rs774283073 GRCh37: 8:63976870-63976870
GRCh38: 8:63064311-63064311
35 TTPA NM_000370.3(TTPA):c.522C>T (p.Ser174=) SNV Uncertain Significance
911008 rs772020906 GRCh37: 8:63978493-63978493
GRCh38: 8:63065934-63065934
36 TTPA NM_000370.3(TTPA):c.358+15A>G SNV Uncertain Significance
911009 rs371592549 GRCh37: 8:63985479-63985479
GRCh38: 8:63072920-63072920
37 TTPA NM_000370.3(TTPA):c.202C>A (p.Arg68=) SNV Uncertain Significance
912240 rs973874631 GRCh37: 8:63998379-63998379
GRCh38: 8:63085820-63085820
38 TTPA NM_000370.3(TTPA):c.36G>T (p.Pro12=) SNV Uncertain Significance
724632 rs773911591 GRCh37: 8:63998545-63998545
GRCh38: 8:63085986-63085986
39 TTPA NM_000370.3(TTPA):c.355A>G (p.Ile119Val) SNV Uncertain Significance
727159 rs766200402 GRCh37: 8:63985497-63985497
GRCh38: 8:63072938-63072938
40 TTPA NM_000370.3(TTPA):c.117C>T (p.Gly39=) SNV Uncertain Significance
754525 rs750576019 GRCh37: 8:63998464-63998464
GRCh38: 8:63085905-63085905
41 TTPA NM_000370.3(TTPA):c.123G>A (p.Pro41=) SNV Uncertain Significance
991598 rs1368032681 GRCh37: 8:63998458-63998458
GRCh38: 8:63085899-63085899
42 TTPA NM_000370.3(TTPA):c.131C>T (p.Pro44Leu) SNV Uncertain Significance
1006523 rs928983374 GRCh37: 8:63998450-63998450
GRCh38: 8:63085891-63085891
43 TTPA NM_000370.3(TTPA):c.552G>T (p.Thr184=) SNV Uncertain Significance
557815 rs181109321 GRCh37: 8:63978463-63978463
GRCh38: 8:63065904-63065904
44 TTPA NM_000370.3(TTPA):c.-1C>T SNV Uncertain Significance
557866 rs1349901379 GRCh37: 8:63998581-63998581
GRCh38: 8:63086022-63086022
45 TTPA NM_000370.3(TTPA):c.*735T>C SNV Uncertain Significance
363548 rs886063064 GRCh37: 8:63973076-63973076
GRCh38: 8:63060517-63060517
46 TTPA NM_000370.3(TTPA):c.*554C>T SNV Uncertain Significance
363551 rs576595274 GRCh37: 8:63973257-63973257
GRCh38: 8:63060698-63060698
47 TTPA NM_000370.3(TTPA):c.807T>A (p.Tyr269Ter) SNV Uncertain Significance
556573 rs1554605276 GRCh37: 8:63973841-63973841
GRCh38: 8:63061282-63061282
48 TTPA NM_000370.3(TTPA):c.*578T>C SNV Uncertain Significance
363550 rs886063065 GRCh37: 8:63973233-63973233
GRCh38: 8:63060674-63060674
49 TTPA NM_000370.3(TTPA):c.*1365A>C SNV Uncertain Significance
363539 rs181348477 GRCh37: 8:63972446-63972446
GRCh38: 8:63059887-63059887
50 TTPA NM_000370.3(TTPA):c.663+10A>G SNV Uncertain Significance
363559 rs374903020 GRCh37: 8:63976755-63976755
GRCh38: 8:63064196-63064196

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

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 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

Pathways related to Ataxia with Vitamin E Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.74 COQ8A APTX

GO Terms for Ataxia with Vitamin E Deficiency

Molecular functions related to Ataxia with Vitamin E Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 vitamin E binding GO:0008431 8.92 TTPA SEC14L2

Sources for Ataxia with Vitamin E Deficiency

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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