MCID: VTM028
MIFTS: 52

Vitamin E, Familial Isolated Deficiency of

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

Aliases & Classifications for Vitamin E, Familial Isolated Deficiency of

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

Name: Vitamin E, Familial Isolated Deficiency of 57
Ataxia with Isolated Vitamin E Deficiency 57 12 59 75 37 13
Familial Isolated Vitamin E Deficiency 12 59 75
Ataxia with Vitamin E Deficiency 59 44 73
Aved 57 59 75
Familial Isolated Deficiency of Vitamin E 12 15
Friedreich-Like Ataxia 57 59
Vitamin E Deficiency 44 73
Ataxia, Friedreich-Like, with Selective Vitamin E Deficiency; Aved 57
Ataxia, Friedreich-Like, with Selective Vitamin E Deficiency 57
Ataxia Friedreich-Like with Selective Vitamin E Deficiency 75
Vitamin E Familial Isolated, Deficiency of 76
Isolated Vitamin E Deficiency 59
Ved 57

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal recessive


HPO:

32
vitamin e, familial isolated deficiency of:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 277460
Disease Ontology 12 DOID:0090028
ICD10 33 G11.1 E56.0
Orphanet 59 ORPHA96
UMLS via Orphanet 74 C1848533
ICD10 via Orphanet 34 G11.1
MESH via Orphanet 45 C535393
MedGen 42 C1848533
KEGG 37 H00981

Summaries for Vitamin E, Familial Isolated Deficiency of

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.

MalaCards based summary : Vitamin E, Familial Isolated Deficiency of, also known as ataxia with isolated vitamin e deficiency, is related to spastic ataxia, charlevoix-saguenay type and friedreich ataxia 1, 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 are Folate Metabolism and Metabolism of fat-soluble vitamins. Affiliated tissues include liver, skeletal muscle and eye, and related phenotypes are ataxia and areflexia

UniProtKB/Swiss-Prot : 75 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 : 76 Familial Isolated Vitamin E Deficiency also known as Ataxia With Vitamin E Deficiency is a rare... more...

Description 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 69)
# Related Disease Score Top Affiliating Genes
1 spastic ataxia, charlevoix-saguenay type 30.8 APTX FXN SACS SETX TTPA
2 friedreich ataxia 1 29.6 APTX FXN SETX TTPA
3 hyperlipidemia, familial combined 29.0 APOA1 APOB
4 ataxia with vitamin e deficiency 12.0
5 atrioventricular block 11.5
6 third-degree atrioventricular block 11.5
7 aortic valve disease 2 11.1
8 atrial septal defect 7 with or without atrioventricular conduction defects 11.1
9 right atrial isomerism 11.1
10 second-degree atrioventricular block 11.1
11 ehlers-danlos syndrome, vascular type 10.9
12 atrial heart septal defect 7 10.9
13 first-degree atrioventricular block 10.8
14 progressive familial heart block 10.8
15 his bundle tachycardia 10.8
16 refsum disease, classic 10.4 SACS TTPA
17 hereditary ataxia 10.3 APTX FXN SETX
18 cerebellar disease 10.3 APTX SACS SETX
19 autosomal recessive cerebellar ataxia 10.2 AFP FXN SETX
20 sick sinus syndrome 10.1
21 progressive familial heart block, type ia 10.1
22 spinocerebellar ataxia 31 10.1 SACS SETX
23 progressive familial heart block, type ib 10.0
24 right bundle branch block 10.0
25 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 10.0 APTX SACS SETX TTPA
26 ehlers-danlos syndrome 10.0
27 myocardial infarction 9.9
28 tetralogy of fallot 9.9
29 wolff-parkinson-white syndrome 9.9
30 atrial fibrillation 9.9
31 transposition of the great arteries 9.9
32 syncope 9.9
33 tricuspid atresia 9.8
34 atrioventricular septal defect 9.8
35 cherry allergy 9.8
36 ischemia 9.8
37 schizoaffective disorder 9.8
38 inferior myocardial infarction 9.8
39 double outlet right ventricle 9.8
40 situs inversus 9.8
41 cyanide poisoning 9.8
42 leukodystrophy, hypomyelinating, 3 9.7 APOA1 APOB
43 dysbaric osteonecrosis 9.7 APOA1 APOB
44 aceruloplasminemia 9.7 APTX FXN SACS SETX TTPA
45 hypobetalipoproteinemia, familial, 1 9.7 APOA1 APOB
46 hyperlipoproteinemia, type iv 9.6 APOA1 APOB
47 total anomalous pulmonary venous return 1 9.6
48 atrial standstill 1 9.6
49 fabry disease 9.6
50 hereditary hemorrhagic telangiectasia 9.6

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 59 32 Very frequent (99-80%) HP:0001251
2 areflexia 59 32 Very frequent (99-80%) HP:0001284
3 visual impairment 59 Occasional (29-5%)
4 nystagmus 59 Frequent (79-30%)
5 abnormality of visual evoked potentials 59 Occasional (29-5%)
6 nyctalopia 59 Frequent (79-30%)
7 sensory neuropathy 59 Frequent (79-30%)
8 diabetes mellitus 59 Occasional (29-5%)
9 dysarthria 59 Frequent (79-30%)
10 mental deterioration 59 Occasional (29-5%)
11 hypertonia 59 Occasional (29-5%)
12 gait disturbance 59 Frequent (79-30%)
13 dysmetria 59 Frequent (79-30%)
14 muscle weakness 59 Very frequent (99-80%)
15 dystonia 59 Occasional (29-5%)
16 tremor 59 Occasional (29-5%)
17 hypertrophic cardiomyopathy 59 Occasional (29-5%)
18 pes cavus 59 Frequent (79-30%)
19 dysdiadochokinesis 59 Frequent (79-30%)
20 neurological speech impairment 59 Frequent (79-30%)
21 developmental regression 59 Occasional (29-5%)
22 scoliosis 59 Frequent (79-30%)
23 skeletal muscle atrophy 59 Occasional (29-5%)
24 hemiplegia/hemiparesis 59 Occasional (29-5%)
25 abnormal pyramidal signs 59 Very frequent (99-80%)
26 abnormality of retinal pigmentation 59 Occasional (29-5%)
27 peripheral neuropathy 59 Very frequent (99-80%)
28 arrhythmia 59 Occasional (29-5%)
29 xanthelasma 32 HP:0001114
30 hypertriglyceridemia 32 HP:0002155
31 hypercholesterolemia 32 HP:0003124
32 increased ldl cholesterol concentration 32 HP:0003141
33 tendon xanthomatosis 32 HP:0010874
34 vitamin e deficiency 32 HP:0100513

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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.8 ABCA1 APOA1 APOB

MGI Mouse Phenotypes related to Vitamin E, Familial Isolated Deficiency of:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.32 ABCA1 AFP APOA1 APOB APTX FXN

Drugs & Therapeutics for Vitamin E, Familial Isolated Deficiency of

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

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

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: vitamin e deficiency

Genetic Tests for Vitamin E, Familial Isolated Deficiency of

Anatomical Context for Vitamin E, Familial Isolated Deficiency of

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

41
Liver, Skeletal Muscle, Eye

Publications for Vitamin E, Familial Isolated Deficiency of

Articles related to Vitamin E, Familial Isolated Deficiency of:

(show all 17)
# Title Authors Year
1
A Case of Ataxia with Isolated Vitamin E Deficiency Initially Diagnosed as Friedreich's Ataxia. ( 26989534 )
2016
2
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. ( 25066259 )
2014
3
A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency. ( 18458655 )
2008
4
First case of ataxia with isolated vitamin E deficiency in the Netherlands. ( 17049453 )
2007
5
Efficacious vitamin E treatment in a child with ataxia with isolated vitamin E deficiency. ( 16491382 )
2006
6
Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. ( 15300460 )
2004
7
Ataxia with isolated vitamin E deficiency: a treatable neurologic disorder resembling Friedreich's ataxia. ( 15300458 )
2004
8
Ataxia with isolated vitamin E deficiency: case report and review of the literature. ( 11568526 )
2001
9
Ataxia with isolated vitamin E deficiency: a clinical, biochemical and genetic diagnosis. ( 11036814 )
2000
10
Familial ataxia with isolated vitamin E deficiency not due to mutation of alpha-TTP. ( 10552255 )
1999
11
Ataxia with isolated vitamin E deficiency: a Japanese family carrying a novel mutation in the alpha-tocopherol transfer protein gene. ( 10360777 )
1999
12
Ataxia with isolated vitamin E deficiency presenting as mutation negative Friedreich's ataxia. ( 9527151 )
1998
13
Ataxia with isolated vitamin E deficiency and retinitis pigmentosa. ( 9485073 )
1998
14
Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. ( 9463307 )
1998
15
Friedreich's ataxia with isolated vitamin E deficiency: a neuropathological study of a Tunisian patient. ( 9194904 )
1997
16
Ataxia with isolated vitamin E deficiency in four siblings. ( 8972536 )
1996
17
Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. ( 7719340 )
1995

Variations for Vitamin E, Familial Isolated Deficiency of

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

75
# 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

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

6
(show top 50) (show all 112)
# Gene Variation Type Significance SNP ID Assembly Location
1 TTPA NM_000370.3(TTPA): c.744delA (p.Glu249Asnfs) deletion Pathogenic rs397515377 GRCh37 Chromosome 8, 63973904: 63973904
2 TTPA NM_000370.3(TTPA): c.744delA (p.Glu249Asnfs) deletion Pathogenic rs397515377 GRCh38 Chromosome 8, 63061345: 63061345
3 TTPA NM_000370.3(TTPA): c.303T> G (p.His101Gln) single nucleotide variant Pathogenic rs121917849 GRCh37 Chromosome 8, 63985549: 63985549
4 TTPA NM_000370.3(TTPA): c.303T> G (p.His101Gln) single nucleotide variant Pathogenic rs121917849 GRCh38 Chromosome 8, 63072990: 63072990
5 TTPA NM_000370.3(TTPA): c.513_514insTT (p.Thr172Leufs) insertion Pathogenic rs397515379 GRCh37 Chromosome 8, 63978501: 63978502
6 TTPA NM_000370.3(TTPA): c.513_514insTT (p.Thr172Leufs) insertion Pathogenic rs397515379 GRCh38 Chromosome 8, 63065942: 63065943
7 TTPA NM_000370.3(TTPA): c.575G> A (p.Arg192His) single nucleotide variant Pathogenic rs121917850 GRCh37 Chromosome 8, 63976853: 63976853
8 TTPA NM_000370.3(TTPA): c.575G> A (p.Arg192His) single nucleotide variant Pathogenic rs121917850 GRCh38 Chromosome 8, 63064294: 63064294
9 TTPA NM_000370.3(TTPA): c.400C> T (p.Arg134Ter) single nucleotide variant Likely pathogenic rs121917851 GRCh37 Chromosome 8, 63978615: 63978615
10 TTPA NM_000370.3(TTPA): c.400C> T (p.Arg134Ter) single nucleotide variant Likely pathogenic rs121917851 GRCh38 Chromosome 8, 63066056: 63066056
11 TTPA NM_000370.3(TTPA): c.175C> T (p.Arg59Trp) single nucleotide variant Pathogenic rs397515522 GRCh37 Chromosome 8, 63998406: 63998406
12 TTPA NM_000370.3(TTPA): c.175C> T (p.Arg59Trp) single nucleotide variant Pathogenic rs397515522 GRCh38 Chromosome 8, 63085847: 63085847
13 TTPA NM_000370.3(TTPA): c.191A> G (p.Asp64Gly) single nucleotide variant Pathogenic rs397515523 GRCh37 Chromosome 8, 63998390: 63998390
14 TTPA NM_000370.3(TTPA): c.191A> G (p.Asp64Gly) single nucleotide variant Pathogenic rs397515523 GRCh38 Chromosome 8, 63085831: 63085831
15 TTPA NM_000370.3(TTPA): c.358G> A (p.Ala120Thr) single nucleotide variant Pathogenic rs143010236 GRCh37 Chromosome 8, 63985494: 63985494
16 TTPA NM_000370.3(TTPA): c.358G> A (p.Ala120Thr) single nucleotide variant Pathogenic rs143010236 GRCh38 Chromosome 8, 63072935: 63072935
17 TTPA NM_000370.3(TTPA): c.421G> A (p.Glu141Lys) single nucleotide variant Pathogenic rs397515524 GRCh37 Chromosome 8, 63978594: 63978594
18 TTPA NM_000370.3(TTPA): c.421G> A (p.Glu141Lys) single nucleotide variant Pathogenic rs397515524 GRCh38 Chromosome 8, 63066035: 63066035
19 TTPA NM_000370.3(TTPA): c.530_531delAGinsGTAAGT (p.Lys177Serfs) indel Pathogenic GRCh38 Chromosome 8, 63065925: 63065926
20 TTPA NM_000370.3(TTPA): c.530_531delAGinsGTAAGT (p.Lys177Serfs) indel Pathogenic GRCh37 Chromosome 8, 63978484: 63978485
21 TTPA NM_000370.3(TTPA): c.548T> C (p.Leu183Pro) single nucleotide variant Pathogenic rs397515525 GRCh37 Chromosome 8, 63978467: 63978467
22 TTPA NM_000370.3(TTPA): c.548T> C (p.Leu183Pro) single nucleotide variant Pathogenic rs397515525 GRCh38 Chromosome 8, 63065908: 63065908
23 TTPA NM_000370.3(TTPA): c.661C> T (p.Arg221Trp) single nucleotide variant Pathogenic rs35916840 GRCh37 Chromosome 8, 63976767: 63976767
24 TTPA NM_000370.3(TTPA): c.661C> T (p.Arg221Trp) single nucleotide variant Pathogenic rs35916840 GRCh38 Chromosome 8, 63064208: 63064208
25 TTPA NM_000370.3(TTPA): c.736G> C (p.Gly246Arg) single nucleotide variant Pathogenic rs397515526 GRCh37 Chromosome 8, 63973912: 63973912
26 TTPA NM_000370.3(TTPA): c.736G> C (p.Gly246Arg) single nucleotide variant Pathogenic rs397515526 GRCh38 Chromosome 8, 63061353: 63061353
27 TTPA NM_000370.3(TTPA): c.487delT (p.Trp163Glyfs) deletion Pathogenic/Likely pathogenic rs397515378 GRCh37 Chromosome 8, 63978528: 63978528
28 TTPA NM_000370.3(TTPA): c.487delT (p.Trp163Glyfs) deletion Pathogenic/Likely pathogenic rs397515378 GRCh38 Chromosome 8, 63065969: 63065969
29 TTPA NM_000370.3(TTPA): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic/Likely pathogenic rs786204758 GRCh38 Chromosome 8, 63086020: 63086020
30 TTPA NM_000370.3(TTPA): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic/Likely pathogenic rs786204758 GRCh37 Chromosome 8, 63998579: 63998579
31 TTPA NM_000370.3(TTPA): c.19delC (p.Gln7Serfs) deletion Pathogenic rs760014795 GRCh37 Chromosome 8, 63998562: 63998562
32 TTPA NM_000370.3(TTPA): c.19delC (p.Gln7Serfs) deletion Pathogenic rs760014795 GRCh38 Chromosome 8, 63086003: 63086003
33 TTPA NM_000370.3(TTPA): c.552+2T> A single nucleotide variant Pathogenic rs886040964 GRCh37 Chromosome 8, 63978461: 63978461
34 TTPA NM_000370.3(TTPA): c.552+2T> A single nucleotide variant Pathogenic rs886040964 GRCh38 Chromosome 8, 63065902: 63065902
35 TTPA NM_000370.3(TTPA): c.205-1G> T single nucleotide variant Pathogenic rs886040963 GRCh38 Chromosome 8, 63073089: 63073089
36 TTPA NM_000370.3(TTPA): c.205-1G> T single nucleotide variant Pathogenic rs886040963 GRCh37 Chromosome 8, 63985648: 63985648
37 TTPA NM_000370.3(TTPA): c.24C> G (p.Pro8=) single nucleotide variant Benign/Likely benign rs140010311 GRCh37 Chromosome 8, 63998557: 63998557
38 TTPA NM_000370.3(TTPA): c.24C> G (p.Pro8=) single nucleotide variant Benign/Likely benign rs140010311 GRCh38 Chromosome 8, 63085998: 63085998
39 TTPA NM_000370.3(TTPA): c.*1368C> G single nucleotide variant Uncertain significance rs553853197 GRCh38 Chromosome 8, 63059884: 63059884
40 TTPA NM_000370.3(TTPA): c.*1368C> G single nucleotide variant Uncertain significance rs553853197 GRCh37 Chromosome 8, 63972443: 63972443
41 TTPA NM_000370.3(TTPA): c.*1135T> C single nucleotide variant Uncertain significance rs886063062 GRCh38 Chromosome 8, 63060117: 63060117
42 TTPA NM_000370.3(TTPA): c.*1135T> C single nucleotide variant Uncertain significance rs886063062 GRCh37 Chromosome 8, 63972676: 63972676
43 TTPA NM_000370.3(TTPA): c.*806C> T single nucleotide variant Uncertain significance rs752352118 GRCh38 Chromosome 8, 63060446: 63060446
44 TTPA NM_000370.3(TTPA): c.*806C> T single nucleotide variant Uncertain significance rs752352118 GRCh37 Chromosome 8, 63973005: 63973005
45 TTPA NM_000370.3(TTPA): c.*364A> T single nucleotide variant Uncertain significance rs559345463 GRCh38 Chromosome 8, 63060888: 63060888
46 TTPA NM_000370.3(TTPA): c.*364A> T single nucleotide variant Uncertain significance rs559345463 GRCh37 Chromosome 8, 63973447: 63973447
47 TTPA NM_000370.3(TTPA): c.663+10A> G single nucleotide variant Uncertain significance rs374903020 GRCh37 Chromosome 8, 63976755: 63976755
48 TTPA NM_000370.3(TTPA): c.663+10A> G single nucleotide variant Uncertain significance rs374903020 GRCh38 Chromosome 8, 63064196: 63064196
49 TTPA NM_000370.3(TTPA): c.*1481_*1484delATAA deletion Uncertain significance rs773557348 GRCh37 Chromosome 8, 63972327: 63972330
50 TTPA NM_000370.3(TTPA): c.*1481_*1484delATAA deletion Uncertain significance rs773557348 GRCh38 Chromosome 8, 63059768: 63059771

Expression for Vitamin E, Familial Isolated Deficiency of

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

Pathways for Vitamin E, Familial Isolated Deficiency of

GO Terms for Vitamin E, Familial Isolated Deficiency of

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 9.7 AFP APOB APTX FXN OSBP RLBP1
2 high-density lipoprotein particle GO:0034364 9.4 ABCA1 APOA1
3 very-low-density lipoprotein particle GO:0034361 9.37 APOA1 APOB
4 endocytic vesicle lumen GO:0071682 9.32 APOA1 APOB
5 low-density lipoprotein particle GO:0034362 9.26 APOA1 APOB
6 chylomicron GO:0042627 9.16 APOA1 APOB
7 intermediate-density lipoprotein particle GO:0034363 8.62 APOA1 APOB

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.89 ABCA1 APOA1 APOB TTPA
2 cellular protein metabolic process GO:0044267 9.78 AFP APOA1 APOB
3 steroid metabolic process GO:0008202 9.74 ABCA1 APOA1 APOB
4 cholesterol metabolic process GO:0008203 9.71 ABCA1 APOA1 APOB
5 cholesterol homeostasis GO:0042632 9.69 ABCA1 APOA1 APOB
6 response to nutrient GO:0007584 9.63 ABCA1 APOA1 TTPA
7 lipid transport GO:0006869 9.62 ABCA1 APOA1 APOB OSBP
8 phospholipid transport GO:0015914 9.61 ABCA1 APOA1
9 regulation of cholesterol biosynthetic process GO:0045540 9.6 APOB SEC14L2
10 triglyceride catabolic process GO:0019433 9.58 APOA1 APOB
11 reverse cholesterol transport GO:0043691 9.58 ABCA1 APOA1
12 high-density lipoprotein particle assembly GO:0034380 9.56 ABCA1 APOA1
13 phospholipid efflux GO:0033700 9.55 ABCA1 APOA1
14 retinoid metabolic process GO:0001523 9.54 APOA1 APOB RLBP1
15 chylomicron assembly GO:0034378 9.52 APOA1 APOB
16 phospholipid homeostasis GO:0055091 9.49 ABCA1 APOA1
17 chylomicron remodeling GO:0034371 9.48 APOA1 APOB
18 vitamin transport GO:0051180 9.43 APOA1 TTPA
19 cholesterol transport GO:0030301 9.43 ABCA1 APOA1 APOB
20 regulation of Cdc42 protein signal transduction GO:0032489 9.4 ABCA1 APOA1
21 cholesterol efflux GO:0033344 9.33 ABCA1 APOA1 APOB
22 lipoprotein metabolic process GO:0042157 9.13 ABCA1 APOA1 APOB
23 lipoprotein biosynthetic process GO:0042158 8.8 ABCA1 APOA1 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 lipid binding GO:0008289 9.55 APOA1 APOB OSBP SEC14L2 TTPA
2 cholesterol binding GO:0015485 9.4 ABCA1 APOA1
3 lipid transporter activity GO:0005319 9.37 APOA1 APOB
4 phospholipid transporter activity GO:0005548 9.32 ABCA1 APOA1
5 vitamin E binding GO:0008431 9.26 SEC14L2 TTPA
6 phospholipid binding GO:0005543 9.26 ABCA1 APOA1 APOB SEC14L2
7 cholesterol transporter activity GO:0017127 8.8 ABCA1 APOA1 APOB

Sources for Vitamin E, Familial Isolated Deficiency of

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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