TTPA, alpha tocopherol transfer protein, 7274

N. diseases: 147; N. variants: 31
Disease: Ataxia with vitamin E deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease BEFREE Mutation of the gene for alpha-tocopherol transfer protein causes ataxia with isolated vitamin E deficiency, a disorder usually stabilized or improved after vitamin E supplementation. 12907280 2003
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease CLINVAR Ataxia with isolated vitamin E deficiency: a Japanese family carrying a novel mutation in the alpha-tocopherol transfer protein gene. 10360777 1999
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease BEFREE Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive neurodegenerative disease, due to mutations in TTPA gene (Arita et al. in Biochem J 306(Pt.2):437-443, 1995; Hentati et al. in Ann Neurol 39:295-300, 1996), which encodes for alpha-TTP, a cytosolic liver protein that is presumed to function in the intracellular transport of alpha-tocopherol. 20464573 2010
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease BEFREE Ataxia with vitamin E deficiency is an autosomal recessive cerebellar ataxia caused by mutations in the α-tocopherol transfer protein coding gene localized on chromosome 8q, leading to lower levels of serum vitamin E. More than 91 patients diagnosed with ataxia with vitamin E deficiency have been reported worldwide. 24369383 2014
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease CLINVAR A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency. 18458655 2008
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease BEFREE A novel delins mutation in the alpha-TTP gene in a family segregating ataxia with isolated vitamin E deficiency. 18458655 2008
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease CLINVAR These findings have identified the underlying genetic defect in AVED and have confirmed the role of alphaTTP in AVED. 8602747 1996
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease CLINVAR The molecular basis of vitamin E retention: structure of human alpha-tocopherol transfer protein. 12899840 2003
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease BEFREE Mutations in the alpha-TTP gene have been detected in patients suffering from low plasma alpha-tocopherol and ataxia with isolated vitamin E deficiency (AVED). 12899840 2003
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease BEFREE Ataxia with vitamin E deficiency is a recessive autosomal neurodegenerative disorder resembling the Friedreich ataxia phenotype but is due to mutations in the alpha-tocopherol transfer protein (TTPA) gene. 12470185 2002
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease CLINVAR Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency. 24369383 2014
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease BEFREE We report the biochemical characterization of six missense mutations TTP(1) that are found in human AVED patients. 15065857 2004
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease CLINVAR We recently have demonstrated that AVED is caused by mutations in the gene for alpha-tocopherol transfer protein (alpha-TTP). 9463307 1998
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease UNIPROT Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. 15300460 2004
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease BEFREE Seven families (13 patients) had the 744 del A mutation in the alpha-tocopherol transfer protein (alpha-TTP) gene, characteristic of ataxia with vitamin E deficiency (AVED). 12039660 2002
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease CLINVAR Ataxia with vitamin E deficiency and severe dystonia: report of a case. 12907280 2003
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease BEFREE Here, we describe a patient with AVED with progressive macular degeneration, who carried a novel truncating mutation-c.717 del C (p.D239EfsX25)-in exon 5 of the TTPA gene. 25066259 2014
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease CLINVAR Ataxia with vitamin E deficiency in southeast Norway, case report. 19566498 2009
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease BEFREE Mutations to the α-TTP gene are associated with ataxia with vitamin E deficiency, a disease characterized by peripheral nerve degeneration. 23713716 2013
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease BEFREE The finding of alpha TTP gene mutations in AVED patients substantiates the therapeutic role of vitamin E as a protective agent against neurological damage in this disease. 7719340 1995
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease CLINVAR Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. 15300460 2004
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease BEFREE Dysfunction of the alpha-tocopherol transfer protein causes ataxia with isolated vitamin E deficiency. 9931538 1999
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease BEFREE This report concerns the characterization of the alpha-tocopherol transfer protein (alpha-TTP) gene in a Japanese family affected by ataxia with isolated vitamin E deficiency (AVED). 9270601 1997
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease UNIPROT We report the biochemical characterization of six missense mutations TTP(1) that are found in human AVED patients. 15065857 2004
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease BEFREE We recently have demonstrated that AVED is caused by mutations in the gene for alpha-tocopherol transfer protein (alpha-TTP). 9463307 1998