AVED
MCID: VTM028
MIFTS: 52

Vitamin E, Familial Isolated Deficiency of (AVED)

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 58
Ataxia with Isolated Vitamin E Deficiency 58 12 60 76 38 13
Familial Isolated Vitamin E Deficiency 12 60 76
Ataxia with Vitamin E Deficiency 60 45 74
Aved 58 60 76
Familial Isolated Deficiency of Vitamin E 12 15
Friedreich-Like Ataxia 58 60
Vitamin E Deficiency 45 74
Ataxia, Friedreich-Like, with Selective Vitamin E Deficiency; Aved 58
Ataxia, Friedreich-Like, with Selective Vitamin E Deficiency 58
Ataxia Friedreich-Like with Selective Vitamin E Deficiency 76
Vitamin E Familial Isolated, Deficiency of 77
Isolated Vitamin E Deficiency 60
Ved 58

Characteristics:

Orphanet epidemiological data:

60
ataxia with vitamin e deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: All ages; Age of death: any age;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
vitamin e, familial isolated deficiency of:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090028
OMIM 58 277460
KEGG 38 H00981
ICD10 34 E56.0
MESH via Orphanet 46 C535393
ICD10 via Orphanet 35 G11.1
UMLS via Orphanet 75 C1848533
Orphanet 60 ORPHA96
MedGen 43 C1848533

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 chylomicron retention disease and anemia, sideroblastic, and spinocerebellar ataxia, 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 Selenium Micronutrient Network and Metabolism of fat-soluble vitamins. Affiliated tissues include brain, eye and skeletal muscle, and related phenotypes are ataxia and areflexia

UniProtKB/Swiss-Prot : 76 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 : 77 Familial Isolated Vitamin E Deficiency is a rare autosomal recessive neurodegenerative disease. Symptoms... 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 262)
# Related Disease Score Top Affiliating Genes
1 chylomicron retention disease 32.7 APOA1 APOB
2 anemia, sideroblastic, and spinocerebellar ataxia 32.4 FXN TTPA
3 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 32.0 APTX SACS SETX TTPA
4 spastic ataxia, charlevoix-saguenay type 31.4 APTX FXN SACS SETX TTPA
5 abetalipoproteinemia 29.9 APOA1 APOB TTPA
6 hypertriglyceridemia, familial 29.8 APOA1 APOB
7 friedreich ataxia 1 29.7 APTX FXN SETX TTPA
8 aceruloplasminemia 29.7 APTX FXN SACS SETX TTPA
9 hyperlipidemia, familial combined 29.6 APOA1 APOB
10 macular degeneration, age-related, 1 29.4 ABCA1 APOB RLBP1
11 arteries, anomalies of 29.0 ABCA1 APOA1 APOB
12 atherosclerosis susceptibility 29.0 ABCA1 APOA1 APOB
13 ataxia with vitamin e deficiency 12.2
14 atrioventricular block 12.0
15 third-degree atrioventricular block 11.8
16 aortic valve disease 2 11.6
17 atrial septal defect 7 with or without atrioventricular conduction defects 11.6
18 dystonia 11, myoclonic 11.3
19 harding ataxia 11.3
20 ehlers-danlos syndrome, vascular type 11.3
21 right atrial isomerism 11.3
22 second-degree atrioventricular block 11.3
23 atrial heart septal defect 7 11.1
24 first-degree atrioventricular block 11.0
25 progressive familial heart block 11.0
26 his bundle tachycardia 11.0
27 atrial fibrillation 10.3
28 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 10.3 APTX SETX
29 progressive familial heart block, type ia 10.3
30 syncope 10.3
31 impotence 10.3
32 sick sinus syndrome 10.3
33 spondyloenchondrodysplasia 10.3
34 atrial standstill 1 10.2
35 proximal spinal muscular atrophy 10.2 SETX SPG7
36 cholestasis 10.2
37 myocardial infarction 10.2
38 cerebellar disease 10.2 APTX SACS SETX
39 ataxia and polyneuropathy, adult-onset 10.2
40 wolff-parkinson-white syndrome 10.2
41 rere-related disorders 10.2
42 ehlers-danlos syndrome 10.1
43 spastic paraplegia 7, autosomal recessive 10.1 SACS SPG7 TTPA
44 deficiency anemia 10.1
45 dystonia 10.1
46 progressive familial heart block, type ib 10.1
47 mitral valve insufficiency 10.1
48 right bundle branch block 10.1
49 long qt syndrome 10.1
50 refsum disease, classic 10.1 SACS TTPA

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:

60 33 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 60 33 Very frequent (99-80%) HP:0001251
2 areflexia 60 33 Very frequent (99-80%) HP:0001284
3 nystagmus 60 Frequent (79-30%)
4 diabetes mellitus 60 Occasional (29-5%)
5 dysarthria 60 Frequent (79-30%)
6 gait disturbance 60 Frequent (79-30%)
7 muscle weakness 60 Very frequent (99-80%)
8 tremor 60 Occasional (29-5%)
9 neurological speech impairment 60 Frequent (79-30%)
10 developmental regression 60 Occasional (29-5%)
11 scoliosis 60 Frequent (79-30%)
12 abnormal pyramidal sign 60 Very frequent (99-80%)
13 visual impairment 60 Occasional (29-5%)
14 abnormality of retinal pigmentation 60 Occasional (29-5%)
15 abnormality of visual evoked potentials 60 Occasional (29-5%)
16 hypertonia 60 Occasional (29-5%)
17 hypertrophic cardiomyopathy 60 Occasional (29-5%)
18 arrhythmia 60 Occasional (29-5%)
19 hypertriglyceridemia 33 HP:0002155
20 skeletal muscle atrophy 60 Occasional (29-5%)
21 sensory neuropathy 60 Frequent (79-30%)
22 hemiplegia/hemiparesis 60 Occasional (29-5%)
23 peripheral neuropathy 60 Very frequent (99-80%)
24 dysmetria 60 Frequent (79-30%)
25 pes cavus 60 Frequent (79-30%)
26 dystonia 60 Occasional (29-5%)
27 nyctalopia 60 Frequent (79-30%)
28 mental deterioration 60 Occasional (29-5%)
29 hypercholesterolemia 33 HP:0003124
30 dysdiadochokinesis 60 Frequent (79-30%)
31 xanthelasma 33 HP:0001114
32 vitamin e deficiency 33 HP:0100513
33 tendon xanthomatosis 33 HP:0010874
34 increased ldl cholesterol concentration 33 HP:0003141

Symptoms via clinical synopsis from OMIM:

58
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:

27
# 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:

47
# 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 74 / NDF-RT 52 :


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:

42
Brain, Eye, Skeletal Muscle

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: a treatable neurologic disorder resembling Friedreich's ataxia. ( 15300458 )
2004
7
Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. ( 15300460 )
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
Ataxia with isolated vitamin E deficiency: a Japanese family carrying a novel mutation in the alpha-tocopherol transfer protein gene. ( 10360777 )
1999
11
Familial ataxia with isolated vitamin E deficiency not due to mutation of alpha-TTP. ( 10552255 )
1999
12
Ataxia with isolated vitamin E deficiency and retinitis pigmentosa. ( 9485073 )
1998
13
Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. ( 9463307 )
1998
14
Ataxia with isolated vitamin E deficiency presenting as mutation negative Friedreich's ataxia. ( 9527151 )
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:

76
# 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 134)
# 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 Uncertain significance rs397515522 GRCh37 Chromosome 8, 63998406: 63998406
12 TTPA NM_000370.3(TTPA): c.175C> T (p.Arg59Trp) single nucleotide variant Uncertain significance 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 Uncertain significance rs143010236 GRCh37 Chromosome 8, 63985494: 63985494
16 TTPA NM_000370.3(TTPA): c.358G> A (p.Ala120Thr) single nucleotide variant Uncertain significance 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 rs1554605631 GRCh38 Chromosome 8, 63065925: 63065926
20 TTPA NM_000370.3(TTPA): c.530_531delAGinsGTAAGT (p.Lys177Serfs) indel Pathogenic rs1554605631 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 Conflicting interpretations of pathogenicity rs35916840 GRCh37 Chromosome 8, 63976767: 63976767
24 TTPA NM_000370.3(TTPA): c.661C> T (p.Arg221Trp) single nucleotide variant Conflicting interpretations of pathogenicity 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.359-3delT deletion Benign rs398123340 GRCh37 Chromosome 8, 63978659: 63978659
28 TTPA NM_000370.3(TTPA): c.359-3delT deletion Benign rs398123340 GRCh38 Chromosome 8, 63066100: 63066100
29 TTPA NM_000370.3(TTPA): c.487delT (p.Trp163Glyfs) deletion Pathogenic/Likely pathogenic rs397515378 GRCh37 Chromosome 8, 63978528: 63978528
30 TTPA NM_000370.3(TTPA): c.487delT (p.Trp163Glyfs) deletion Pathogenic/Likely pathogenic rs397515378 GRCh38 Chromosome 8, 63065969: 63065969
31 TTPA NM_000370.3(TTPA): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic/Likely pathogenic rs786204758 GRCh38 Chromosome 8, 63086020: 63086020
32 TTPA NM_000370.3(TTPA): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic/Likely pathogenic rs786204758 GRCh37 Chromosome 8, 63998579: 63998579
33 TTPA NM_000370.3(TTPA): c.19delC (p.Gln7Serfs) deletion Pathogenic rs760014795 GRCh37 Chromosome 8, 63998562: 63998562
34 TTPA NM_000370.3(TTPA): c.19delC (p.Gln7Serfs) deletion Pathogenic rs760014795 GRCh38 Chromosome 8, 63086003: 63086003
35 TTPA NM_000370.3(TTPA): c.552+2T> A single nucleotide variant Pathogenic rs886040964 GRCh37 Chromosome 8, 63978461: 63978461
36 TTPA NM_000370.3(TTPA): c.552+2T> A single nucleotide variant Pathogenic rs886040964 GRCh38 Chromosome 8, 63065902: 63065902
37 TTPA NM_000370.3(TTPA): c.205-1G> T single nucleotide variant Pathogenic rs886040963 GRCh38 Chromosome 8, 63073089: 63073089
38 TTPA NM_000370.3(TTPA): c.205-1G> T single nucleotide variant Pathogenic rs886040963 GRCh37 Chromosome 8, 63985648: 63985648
39 TTPA NM_000370.3(TTPA): c.24C> G (p.Pro8=) single nucleotide variant Benign/Likely benign rs140010311 GRCh37 Chromosome 8, 63998557: 63998557
40 TTPA NM_000370.3(TTPA): c.24C> G (p.Pro8=) single nucleotide variant Benign/Likely benign rs140010311 GRCh38 Chromosome 8, 63085998: 63085998
41 TTPA NM_000370.3(TTPA): c.*1368C> G single nucleotide variant Uncertain significance rs553853197 GRCh38 Chromosome 8, 63059884: 63059884
42 TTPA NM_000370.3(TTPA): c.*1368C> G single nucleotide variant Uncertain significance rs553853197 GRCh37 Chromosome 8, 63972443: 63972443
43 TTPA NM_000370.3(TTPA): c.*1135T> C single nucleotide variant Uncertain significance rs886063062 GRCh38 Chromosome 8, 63060117: 63060117
44 TTPA NM_000370.3(TTPA): c.*1135T> C single nucleotide variant Uncertain significance rs886063062 GRCh37 Chromosome 8, 63972676: 63972676
45 TTPA NM_000370.3(TTPA): c.*806C> T single nucleotide variant Uncertain significance rs752352118 GRCh38 Chromosome 8, 63060446: 63060446
46 TTPA NM_000370.3(TTPA): c.*806C> T single nucleotide variant Uncertain significance rs752352118 GRCh37 Chromosome 8, 63973005: 63973005
47 TTPA NM_000370.3(TTPA): c.*364A> T single nucleotide variant Uncertain significance rs559345463 GRCh38 Chromosome 8, 63060888: 63060888
48 TTPA NM_000370.3(TTPA): c.*364A> T single nucleotide variant Uncertain significance rs559345463 GRCh37 Chromosome 8, 63973447: 63973447
49 TTPA NM_000370.3(TTPA): c.663+10A> G single nucleotide variant Uncertain significance rs374903020 GRCh37 Chromosome 8, 63976755: 63976755
50 TTPA NM_000370.3(TTPA): c.663+10A> G single nucleotide variant Uncertain significance rs374903020 GRCh38 Chromosome 8, 63064196: 63064196

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 very-low-density lipoprotein particle GO:0034361 9.37 APOA1 APOB
2 endocytic vesicle lumen GO:0071682 9.26 APOA1 APOB
3 low-density lipoprotein particle GO:0034362 9.16 APOA1 APOB
4 chylomicron GO:0042627 8.96 APOA1 APOB
5 intermediate-density lipoprotein particle GO:0034363 8.62 APOA1 APOB
6 cytoplasm GO:0005737 10.06 AFP APOB APTX FXN OSBP RLBP1

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 9.9 ABCA1 APOA1 APOB TTPA
2 cellular protein metabolic process GO:0044267 9.79 AFP APOA1 APOB
3 steroid metabolic process GO:0008202 9.75 ABCA1 APOA1 APOB
4 cholesterol homeostasis GO:0042632 9.72 ABCA1 APOA1 APOB
5 cholesterol metabolic process GO:0008203 9.71 ABCA1 APOA1 APOB
6 response to nutrient GO:0007584 9.65 ABCA1 APOA1 TTPA
7 lipid transport GO:0006869 9.62 ABCA1 APOA1 APOB OSBP
8 regulation of cholesterol biosynthetic process GO:0045540 9.61 APOB SEC14L2
9 triglyceride catabolic process GO:0019433 9.59 APOA1 APOB
10 reverse cholesterol transport GO:0043691 9.58 ABCA1 APOA1
11 high-density lipoprotein particle assembly GO:0034380 9.57 ABCA1 APOA1
12 phospholipid efflux GO:0033700 9.56 ABCA1 APOA1
13 retinoid metabolic process GO:0001523 9.54 APOA1 APOB RLBP1
14 chylomicron assembly GO:0034378 9.52 APOA1 APOB
15 intracellular cholesterol transport GO:0032367 9.51 ABCA1 OSBP
16 phospholipid homeostasis GO:0055091 9.49 ABCA1 APOA1
17 chylomicron remodeling GO:0034371 9.46 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 9.46 APOA1 OSBP SEC14L2 TTPA
2 lipid transporter activity GO:0005319 9.43 ABCA1 APOA1 APOB
3 phospholipid transporter activity GO:0005548 9.4 ABCA1 APOA1
4 high-density lipoprotein particle binding GO:0008035 9.37 ABCA1 APOA1
5 vitamin E binding GO:0008431 9.32 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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