VED
MCID: VTM028
MIFTS: 52

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 56
Ataxia with Isolated Vitamin E Deficiency 56 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 43 71
Aved 56 58 73
Friedreich-Like Ataxia 56 58
Vitamin E Deficiency 43 71
Ataxia, Friedreich-Like, with Selective Vitamin E Deficiency; Aved 56
Ataxia, Friedreich-Like, with Selective Vitamin E Deficiency 56
Ataxia Friedreich-Like with Selective Vitamin E Deficiency 73
Vitamin E Familial Isolated, Deficiency of 74
Isolated Vitamin E Deficiency 58
Ved 56

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:

56
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 56 277460
KEGG 36 H00981
NCIt 49 C155996
SNOMED-CT 67 702442008
ICD10 32 E56.0
MESH via Orphanet 44 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), and among its related pathways/superpathways is Glycine, serine and threonine metabolism. The drugs Vitamin A and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and skeletal muscle, 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 502)
# Related Disease Score Top Affiliating Genes
1 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 31.5 TTPA SETX SACS FXN APTX
2 spastic ataxia, charlevoix-saguenay type 31.1 TTPA SETX SACS FXN APTX
3 abetalipoproteinemia 29.9 TTPA APOB
4 hypolipoproteinemia 29.8 TTPA APOB
5 autosomal dominant cerebellar ataxia 29.5 TTPA SETX SACS FXN APTX
6 peripheral nervous system disease 29.5 SETX SACS FXN APTX
7 marinesco-sjogren syndrome 29.3 TTPA SACS FXN APTX
8 autosomal recessive cerebellar ataxia 29.3 TTPA SETX SACS FXN APTX
9 friedreich ataxia 29.3 TTPA SETX FXN APTX
10 hereditary ataxia 29.3 TTPA SETX SACS FXN APTX
11 ataxia with vitamin e deficiency 12.3
12 atrioventricular block 12.3
13 third-degree atrioventricular block 12.0
14 chylomicron retention disease 11.9
15 aortic valve disease 2 11.8
16 first-degree atrioventricular block 11.8
17 atrial septal defect 7 with or without atrioventricular conduction defects 11.8
18 second-degree atrioventricular block 11.7
19 ehlers-danlos syndrome, vascular type 11.5
20 dystonia 11, myoclonic 11.4
21 cerebellar ataxia, early-onset, with retained tendon reflexes 11.4
22 anemia, sideroblastic, and spinocerebellar ataxia 11.4
23 right atrial isomerism 11.4
24 atrial heart septal defect 7 11.2
25 progressive familial heart block 11.1
26 congenitally corrected transposition of the great arteries 11.1
27 his bundle tachycardia 11.1
28 progressive familial heart block, type ia 10.6
29 syncope 10.6
30 sick sinus syndrome 10.5
31 atrial fibrillation 10.5
32 progressive familial heart block, type ib 10.5
33 right bundle branch block 10.5
34 left bundle branch hemiblock 10.4
35 congestive heart failure 10.4
36 hair whorl 10.4
37 sinoatrial node disease 10.4
38 wolff-parkinson-white syndrome 10.4
39 impotence 10.3
40 mitral valve insufficiency 10.3
41 dilated cardiomyopathy 10.3
42 oculomotor apraxia 10.3 SETX APTX
43 atrial standstill 1 10.3
44 arteriovenous malformation 10.3
45 aneurysm 10.3
46 autosomal recessive disease 10.3
47 deficiency anemia 10.3
48 lyme disease 10.2
49 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 10.2
50 hypertriglyceridemia, familial 10.2

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 scoliosis 58 Frequent (79-30%)
4 neurological speech impairment 58 Frequent (79-30%)
5 visual impairment 58 Occasional (29-5%)
6 developmental regression 58 Occasional (29-5%)
7 abnormality of retinal pigmentation 58 Occasional (29-5%)
8 abnormality of visual evoked potentials 58 Occasional (29-5%)
9 hypertonia 58 Occasional (29-5%)
10 muscle weakness 58 Very frequent (99-80%)
11 gait disturbance 58 Frequent (79-30%)
12 abnormal pyramidal sign 58 Very frequent (99-80%)
13 hypertrophic cardiomyopathy 58 Occasional (29-5%)
14 arrhythmia 58 Occasional (29-5%)
15 hypertriglyceridemia 31 HP:0002155
16 sensory neuropathy 58 Frequent (79-30%)
17 hemiplegia/hemiparesis 58 Occasional (29-5%)
18 peripheral neuropathy 58 Very frequent (99-80%)
19 skeletal muscle atrophy 58 Occasional (29-5%)
20 nystagmus 58 Frequent (79-30%)
21 tremor 58 Occasional (29-5%)
22 increased ldl cholesterol concentration 31 HP:0003141
23 diabetes mellitus 58 Occasional (29-5%)
24 dysarthria 58 Frequent (79-30%)
25 hypercholesterolemia 31 HP:0003124
26 dysmetria 58 Frequent (79-30%)
27 nyctalopia 58 Frequent (79-30%)
28 mental deterioration 58 Occasional (29-5%)
29 dystonia 58 Occasional (29-5%)
30 pes cavus 58 Frequent (79-30%)
31 dysdiadochokinesis 58 Frequent (79-30%)
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:

56
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

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


ataxia

GenomeRNAi Phenotypes related to Vitamin E, Familial Isolated Deficiency of according to GeneCards Suite gene sharing:

26 (show all 12)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-103 9.47 SACS
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-120 9.47 SACS
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-171 9.47 SACS
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.47 FXN TTPA
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 9.47 SACS
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-2 9.47 SACS
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.47 SACS
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.47 TTPA
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-46 9.47 SACS
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.47 TTPA
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-9 9.47 SACS
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.47 FXN TTPA

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 all 30)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vitamin A Approved, Nutraceutical, Vet_approved Phase 3 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 3 1406-16-2
3 Retinol palmitate Phase 3
4 retinol Phase 3
5 Calciferol Phase 3
6
Tocopherol Approved, Investigational Phase 2 1406-66-2, 54-28-4 14986
7
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
8 Tocotrienol Investigational Phase 2 6829-55-6
9 Vitamins Phase 2
10 Tocopherols Phase 2
11 Tocotrienols Phase 2
12 Trace Elements Phase 2
13 Micronutrients Phase 2
14 Antioxidants Phase 2
15 Nutrients Phase 2
16 Protective Agents Phase 2
17 Soy Bean Phase 2
18 Omega 3 Fatty Acid Phase 2
19 Liver Extracts Phase 2
20
Selenium Approved, Investigational, Vet_approved 7782-49-2
21 Orange Approved
22
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
23
Beta carotene Approved, Nutraceutical 7235-40-7
24 Sunflower
25 Ergocalciferols
26 Carotenoids
27 Hormones
28 Calcium, Dietary
29 Vitamin D2
30
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Effects of Fat-soluble Vitamins Supplementation in Early Life on Common Complications and Neural Development in Very Low Birth Weight Infants Recruiting NCT03876704 Phase 3 High dose of fat-Soluble Vitamin;Conventional dose of fat-Soluble Vitamin
2 Vitamin E Supplement in Patients With Cirrhosis and Acanthocytosis Completed NCT01463735 Phase 2
3 The Effect of Vitamin E and Docosahexaenoic Acid Ethyl Ester on Non-Alcoholic Fatty Liver Disease (NAFLD) - Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Clinical Trial (PUVENAFLD) Recruiting NCT04198805 Phase 2
4 Use of Tocofersolan (Vedrop®) to Prevent or Treat Refractive Vitamin E Deficiency in Infants and Children Withdrawn NCT03582384 Phase 2 Tocofersolan
5 Evaluate the Safety and Feasibility of Injecting Placental Matrix-Derived Mesenchymal Stem Cells Into the Penis to Treat the Symptoms of Peyronie's Disease Completed NCT02395029 Phase 1
6 Relationship of Haptoglobin Phenotype to Vascular Function and Response to Vitamin E Supplementation in Patients With Diabetes Mellitus Type 2: The EVAS Trial Unknown status NCT02776397
7 Effects of Inclusion of Sunflower Oil, Vitamin E and Selenium in the Diet of Dairy Cows on Milk Composition and Its Influence on Nutrition and Health of Elderly Completed NCT02980094
8 A Randomized Controlled Trial Testing the Effect of a Multi-nutrient Fortified Juice Completed NCT01909063
9 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
10 The Correlation Between Vitamin A / E Levels and Preeclampsia. Recruiting NCT03971604 Vitamin A;Vitamin E
11 Vitamin E Treatment for LCHAD Associated Neuropathy Terminated NCT00840112

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

Inferred drug relations via UMLS 71 / NDF-RT 50 :


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
Liver, Eye, Skeletal Muscle, Testes, Brain

Publications for Vitamin E, Familial Isolated Deficiency of

Articles related to Vitamin E, Familial Isolated Deficiency of:

(show top 50) (show all 81)
# Title Authors PMID Year
1
Familial ataxia with isolated vitamin E deficiency not due to mutation of alpha-TTP. 56 54 61
10552255 1999
2
Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency. 54 61 56
9931538 1999
3
Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. 61 54 56
7719340 1995
4
A family with spinocerebellar ataxia type 8 expansion and vitamin E deficiency ataxia. 54 56
12470185 2002
5
Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency. 56 54
8602747 1996
6
EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood. 6
24418350 2014
7
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 6
20050888 2010
8
Autosomal recessive ataxia caused by three distinct gene defects in a single consanguineous family. 56
18569450 2008
9
Ataxia with Vitamin E Deficiency 6
20301419 2005
10
Hereditary Ataxia Overview 6
20301317 1998
11
Ataxia with vitamin E deficiency: refinement of genetic localization and analysis of linkage disequilibrium by using new markers in 14 families. 56
7726167 1995
12
Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families. 56
8232925 1993
13
Localization of Friedreich ataxia phenotype with selective vitamin E deficiency to chromosome 8q by homozygosity mapping. 56
8252047 1993
14
[Familial idiopathic vitamin E deficiency associated with cerebellar atrophy]. 56
2265507 1990
15
Impaired ability of patients with familial isolated vitamin E deficiency to incorporate alpha-tocopherol into lipoproteins secreted by the liver. 56
2298915 1990
16
Isolated vitamin E deficiency in the absence of fat malabsorption--familial and sporadic cases: characterization and investigation of causes. 56
3361234 1988
17
A treatable familial neuromyopathy with vitamin E deficiency, normal absorption, and evidence of increased consumption of vitamin E. 56
3141695 1988
18
Adult-onset spinocerebellar syndrome with idiopathic vitamin E deficiency. 56
3477125 1987
19
Isolated deficiency of vitamin E with progressive neurologic deterioration. 56
3822155 1987
20
Spinocerebellar degeneration associated with a selective defect of vitamin E absorption. 56
4000224 1985
21
A progressive neurological syndrome associated with an isolated vitamin E deficiency. 56
6509402 1984
22
Neuromyopathy and vitamin E deficiency in man. 56
6945489 1981
23
Neuromuscular disease in patients with steatorrhoea. 56
6079812 1967
24
A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency. 54 61
18458655 2008
25
First case of ataxia with isolated vitamin E deficiency in the Netherlands. 61 54
17049453 2007
26
Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. 61 54
15300460 2004
27
Ataxia with vitamin E deficiency and severe dystonia: report of a case. 54 61
12907280 2003
28
The molecular basis of vitamin E retention: structure of human alpha-tocopherol transfer protein. 54 61
12899840 2003
29
Delayed-onset ataxia in mice lacking alpha -tocopherol transfer protein: model for neuronal degeneration caused by chronic oxidative stress. 54 61
11752462 2001
30
Ataxia with isolated vitamin E deficiency: a Japanese family carrying a novel mutation in the alpha-tocopherol transfer protein gene. 54 61
10360777 1999
31
alpha-Tocopherol transfer protein gene: exon skipping of all transcripts causes ataxia. 61 54
9270601 1997
32
Vitamin E - The Next 100 Years. 61
30550633 2019
33
Pediatric Ataxia: Focus on Chronic Disorders. 61
29735117 2018
34
Spastic ataxias. 61
29891058 2018
35
A Case of Ataxia with Isolated Vitamin E Deficiency Initially Diagnosed as Friedreich's Ataxia. 61
26989534 2016
36
Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia. 61
26068213 2015
37
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
38
Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E. 61
23622402 2013
39
[Autosomal recessive cerebellar ataxias]. 61
19442480 2009
40
Ataxia with oculomotor apraxia type 2: a clinical and genetic study of 19 patients. 54
19141356 2009
41
Mechanisms of ligand transfer by the hepatic tocopherol transfer protein. 54
18458085 2008
42
[Familial hypobetalipoproteinemia secondary to a mutation in the apolipoprotein B gene]. 54
17517208 2007
43
The alpha-tocopherol transfer protein. 54
17628171 2007
44
Structure and function of alpha-tocopherol transfer protein: implications for vitamin E metabolism and AVED. 54
17628170 2007
45
Alpha-Tocopherol Transfer Protein (alpha-TTP): Insights from Alpha-Tocopherol Transfer Protein Knockout Mice. 54
20368946 2007
46
Autosomal recessive cerebellar ataxias. 54
17112370 2006
47
Biochemical consequences of heritable mutations in the alpha-tocopherol transfer protein. 54
16819822 2006
48
Efficacious vitamin E treatment in a child with ataxia with isolated vitamin E deficiency. 61
16491382 2006
49
[Autosomal recessive cerebellar ataxias. Their classification, genetic features and pathophysiology]. 54
16193447 2005
50
Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients. 54
15953402 2005

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 96) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TTPA NM_000370.3(TTPA):c.744del (p.Glu249fs)deletion Pathogenic 9136 rs397515377 8:63973904-63973904 8:63061345-63061345
2 TTPA NM_000370.3(TTPA):c.303T>G (p.His101Gln)SNV Pathogenic 9137 rs121917849 8:63985549-63985549 8:63072990-63072990
3 TTPA NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs)insertion Pathogenic 9139 rs397515379 8:63978501-63978502 8:63065942-63065943
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.421G>A (p.Glu141Lys)SNV Pathogenic 65592 rs397515524 8:63978594-63978594 8:63066035-63066035
6 TTPA NM_000370.3(TTPA):c.530_531delinsGTAAGT (p.Lys177fs)indel Pathogenic 65595 rs1554605631 8:63978484-63978485 8:63065925-63065926
7 TTPA NM_000370.3(TTPA):c.548T>C (p.Leu183Pro)SNV Pathogenic 65596 rs397515525 8:63978467-63978467 8:63065908-63065908
8 TTPA NM_000370.3(TTPA):c.736G>C (p.Gly246Arg)SNV Pathogenic 65598 rs397515526 8:63973912-63973912 8:63061353-63061353
9 TTPA NM_000370.3(TTPA):c.19del (p.Gln7fs)deletion Pathogenic 208623 rs760014795 8:63998562-63998562 8:63086003-63086003
10 TTPA NM_000370.3(TTPA):c.552+2T>ASNV Pathogenic 267262 rs886040964 8:63978461-63978461 8:63065902-63065902
11 TTPA NM_000370.3(TTPA):c.205-1G>TSNV Pathogenic 267261 rs886040963 8:63985648-63985648 8:63073089-63073089
12 TTPA NM_000370.3(TTPA):c.487del (p.Trp163fs)deletion Pathogenic/Likely pathogenic 188951 rs397515378 8:63978528-63978528 8:63065969-63065969
13 TTPA NM_000370.3(TTPA):c.2T>C (p.Met1Thr)SNV Pathogenic/Likely pathogenic 189186 rs786204758 8:63998579-63998579 8:63086020-63086020
14 TTPA NM_000370.3(TTPA):c.400C>T (p.Arg134Ter)SNV Pathogenic/Likely pathogenic 9141 rs121917851 8:63978615-63978615 8:63066056-63066056
15 TTPA NM_000370.3(TTPA):c.88_118del (p.Ala30fs)deletion Pathogenic/Likely pathogenic 550204 rs1554525125 8:63998463-63998493 8:63085904-63085934
16 TTPA NM_000370.3(TTPA):c.83_105del (p.Leu28fs)deletion Likely pathogenic 558725 rs1554525128 8:63998476-63998498 8:63085917-63085939
17 TTPA NM_000370.3(TTPA):c.1A>T (p.Met1Leu)SNV Likely pathogenic 557555 rs1408863841 8:63998580-63998580 8:63086021-63086021
18 TTPA NM_000370.3(TTPA):c.557C>A (p.Ser186Ter)SNV Likely pathogenic 557235 rs1554605498 8:63976871-63976871 8:63064312-63064312
19 TTPA NM_000370.3(TTPA):c.172G>C (p.Ala58Pro)SNV Likely pathogenic 802413 8:63998409-63998409 8:63085850-63085850
20 TTPA NM_000370.3(TTPA):c.575G>A (p.Arg192His)SNV Likely pathogenic 9140 rs121917850 8:63976853-63976853 8:63064294-63064294
21 TTPA NM_000370.3(TTPA):c.227_229delinsATT (p.Trp76_Arg77delinsTyrTer)indel Likely pathogenic 551293 rs1554524061 8:63985623-63985625 8:63073064-63073066
22 TTPA NM_000370.3(TTPA):c.339del (p.Val114fs)deletion Likely pathogenic 633013 rs1563363293 8:63985513-63985513 8:63072954-63072954
23 TTPA NM_000370.3(TTPA):c.441del (p.Glu148fs)deletion Likely pathogenic 371663 rs1057517448 8:63978574-63978574 8:63066015-63066015
24 TTPA NM_000370.3(TTPA):c.313A>T (p.Arg105Ter)SNV Likely pathogenic 370354 rs1057516423 8:63985539-63985539 8:63072980-63072980
25 TTPA NM_000370.3(TTPA):c.205-1G>CSNV Likely pathogenic 370407 rs886040963 8:63985648-63985648 8:63073089-63073089
26 TTPA NM_000370.3(TTPA):c.205-2A>GSNV Likely pathogenic 370950 rs758349851 8:63985649-63985649 8:63073090-63073090
27 TTPA NM_000370.3(TTPA):c.13C>T (p.Arg5Ter)SNV Likely pathogenic 370311 rs1008240677 8:63998568-63998568 8:63086009-63086009
28 TTPA NM_000370.3(TTPA):c.2T>A (p.Met1Lys)SNV Likely pathogenic 371454 rs786204758 8:63998579-63998579 8:63086020-63086020
29 TTPA NM_000370.3(TTPA):c.552G>A (p.Thr184=)SNV Likely pathogenic 374211 rs181109321 8:63978463-63978463 8:63065904-63065904
30 TTPA NM_000370.3(TTPA):c.36G>T (p.Pro12=)SNV Conflicting interpretations of pathogenicity 724632 8:63998545-63998545 8:63085986-63085986
31 TTPA NM_000370.3(TTPA):c.558A>G (p.Ser186=)SNV Conflicting interpretations of pathogenicity 586911 rs774283073 8:63976870-63976870 8:63064311-63064311
32 TTPA NM_000370.3(TTPA):c.358G>A (p.Ala120Thr)SNV Conflicting interpretations of pathogenicity 65591 rs143010236 8:63985494-63985494 8:63072935-63072935
33 TTPA NM_000370.3(TTPA):c.661C>T (p.Arg221Trp)SNV Conflicting interpretations of pathogenicity 65597 rs35916840 8:63976767-63976767 8:63064208-63064208
34 TTPA NM_000370.3(TTPA):c.175C>T (p.Arg59Trp)SNV Uncertain significance 65589 rs397515522 8:63998406-63998406 8:63085847-63085847
35 TTPA NM_000370.3(TTPA):c.*1368C>GSNV Uncertain significance 363538 rs553853197 8:63972443-63972443 8:63059884-63059884
36 TTPA NM_000370.3(TTPA):c.*1135T>CSNV Uncertain significance 363542 rs886063062 8:63972676-63972676 8:63060117-63060117
37 TTPA NM_000370.3(TTPA):c.*806C>TSNV Uncertain significance 363546 rs752352118 8:63973005-63973005 8:63060446-63060446
38 TTPA NM_000370.3(TTPA):c.*364A>TSNV Uncertain significance 363553 rs559345463 8:63973447-63973447 8:63060888-63060888
39 TTPA NM_000370.3(TTPA):c.663+10A>GSNV Uncertain significance 363559 rs374903020 8:63976755-63976755 8:63064196-63064196
40 TTPA NM_000370.3(TTPA):c.*1481_*1484delATAAshort repeat Uncertain significance 363534 rs773557348 8:63972327-63972330 8:63059768-63059771
41 TTPA NM_000370.3(TTPA):c.*1365A>CSNV Uncertain significance 363539 rs181348477 8:63972446-63972446 8:63059887-63059887
42 TTPA NM_000370.3(TTPA):c.*776C>TSNV Uncertain significance 363547 rs886063063 8:63973035-63973035 8:63060476-63060476
43 TTPA NM_000370.3(TTPA):c.*735T>CSNV Uncertain significance 363548 rs886063064 8:63973076-63973076 8:63060517-63060517
44 TTPA NM_000370.3(TTPA):c.*239C>TSNV Uncertain significance 363556 rs761554482 8:63973572-63973572 8:63061013-63061013
45 TTPA NM_000370.3(TTPA):c.*1441C>GSNV Uncertain significance 363535 rs553317836 8:63972370-63972370 8:63059811-63059811
46 TTPA NM_000370.3(TTPA):c.*1394A>GSNV Uncertain significance 363537 rs886063060 8:63972417-63972417 8:63059858-63059858
47 TTPA NM_000370.3(TTPA):c.*1164A>TSNV Uncertain significance 363541 rs886063061 8:63972647-63972647 8:63060088-63060088
48 TTPA NM_000370.3(TTPA):c.*934C>TSNV Uncertain significance 363544 rs776683493 8:63972877-63972877 8:63060318-63060318
49 TTPA NM_000370.3(TTPA):c.*769G>ASNV Uncertain significance 912172 8:63973042-63973042 8:63060483-63060483
50 TTPA NM_000370.3(TTPA):c.*595C>GSNV Uncertain significance 908163 8:63973216-63973216 8:63060657-63060657

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.34 SRR DMGDH

GO Terms for Vitamin E, Familial Isolated Deficiency of

Cellular components related to Vitamin E, Familial Isolated Deficiency of according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.32 TTPA SRR SETX SEC14L2 SACS RLBP1

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

# Name GO ID Score Top Affiliating Genes
1 retinoid metabolic process GO:0001523 9.16 RLBP1 APOB
2 intermembrane lipid transfer GO:0120009 8.96 TTPA APOB
3 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 phosphatidylinositol bisphosphate binding GO:1902936 8.96 TTPA RLBP1
2 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
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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