TTPA, alpha tocopherol transfer protein, 7274

N. diseases: 147; N. variants: 31
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0042875
Disease: Vitamin E Deficiency
Vitamin E Deficiency
0.400 Biomarker disease BEFREE Knockout studies in mice indicated that inhibition of α-TTP confers resistance against malaria infections in murines, accompanied by oxidative stress-induced DNA damage in the parasite, arising from vitamin E deficiency. 30586912 2018
CUI: C0042875
Disease: Vitamin E Deficiency
Vitamin E Deficiency
0.400 GeneticVariation disease BEFREE Subjects affected by cerebellar ataxia due to congenital isolated vitamin E deficiency (AVED) show vitamin E deficiency caused by a selective impaired gastrointestinal absorption of vitamin E for a mutation in the gene for α-tocopherol transfer protein leading to impairment of vitamin E absorption and decreased vitamin E plasma levels. 23445347 2014
CUI: C0042875
Disease: Vitamin E Deficiency
Vitamin E Deficiency
0.400 GeneticVariation disease BEFREE Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients. 15953402 2005
CUI: C0042875
Disease: Vitamin E Deficiency
Vitamin E Deficiency
0.400 GeneticVariation disease LHGDN Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. 15300460 2004
CUI: C0042875
Disease: Vitamin E Deficiency
Vitamin E Deficiency
0.400 Biomarker disease LHGDN Molecular determinants of heritable vitamin E deficiency. 15065857 2004
CUI: C0042875
Disease: Vitamin E Deficiency
Vitamin E Deficiency
0.400 GeneticVariation disease BEFREE To discuss the clinicopathological findings in a patient with retinitis pigmentosa (RP) accompanied by a vitamin E deficiency caused by an H101Q mutation in the alpha-tocopherol transfer protein (alpha-TTP) gene. 11754917 2002
CUI: C0042875
Disease: Vitamin E Deficiency
Vitamin E Deficiency
0.400 GeneticVariation disease BEFREE A new syndrome of ataxia and retinitis pigmentosa with vitamin E deficiency caused by the missense mutation of alpha-tocopherol transfer protein (alpha-TTP) gene was recently proposed. 10727494 2000
CUI: C0042875
Disease: Vitamin E Deficiency
Vitamin E Deficiency
0.400 Biomarker disease BEFREE Patients with alpha-tocopherol transfer protein (alpha-TTP) defects experience neurological symptoms characteristic of vitamin E deficiency and depend on continuous high alpha-tocopherol supplements. 11013295 2000
CUI: C0042875
Disease: Vitamin E Deficiency
Vitamin E Deficiency
0.400 Biomarker disease CTD_human Increased atherosclerosis in hyperlipidemic mice deficient in alpha -tocopherol transfer protein and vitamin E. 11095717 2000
CUI: C0042875
Disease: Vitamin E Deficiency
Vitamin E Deficiency
0.400 Biomarker disease BEFREE The alpha-tocopherol transfer protein (alpha-TTP) is a cytosolic liver protein that is presumed to function in the intracellular transport of alpha-tocopherol, the most biologically active form of vitamin E. We studied 4 unrelated patients with autosomal recessive Friedreich-like ataxia who had isolated vitamin E deficiency. 9189046 1997
CUI: C0042875
Disease: Vitamin E Deficiency
Vitamin E Deficiency
0.400 Biomarker disease BEFREE Several lines of evidence have substantiated that abnormal alpha-TTP results in isolated vitamin E deficiency. 9178827 1997
CUI: C0042875
Disease: Vitamin E Deficiency
Vitamin E Deficiency
0.400 GeneticVariation disease BEFREE Human alpha-tocopherol transfer protein: gene structure and mutations in familial vitamin E deficiency. 8602747 1996