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: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 CausalMutation disease CLINVAR Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia. 26068213 2015
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 CausalMutation disease CLINVAR Ataxia with vitamin e deficiency in norway. 25614784 2015
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 CausalMutation 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 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 CausalMutation disease CLINVAR Normal spermatogenesis and sperm function in a subject affected by cerebellar ataxia due to congenital vitamin E deficiency. 23445347 2014
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 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 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 hepatic α-tocopherol transfer protein (TTP) is required for optimal α-tocopherol bioavailability in humans; mutations in the human TTPA gene result in the heritable disorder ataxia with vitamin E deficiency (AVED, OMIM #277460). 23077608 2012
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease CLINVAR Epilepsy in a patient with ataxia caused by vitamin E deficiency. 22696689 2011
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 Biomarker disease CTD_human 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 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 Biomarker disease CTD_human 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 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 Biomarker disease BEFREE We identified two point mutations in the alpha-tocopherol transport protein (alpha-TTP) gene on chromosome 8q13, and the diagnosis ataxia with isolated vitamin E deficiency (AVED) was made. 17049453 2007
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 GeneticVariation disease BEFREE Heritable mutations in the ttpA gene cause ataxia with vitamin E deficiency (AVED), an autosomal recessive disorder characterized by low plasma vitamin E levels and progressive neurodegeneration. 17628171 2007
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 Biomarker disease BEFREE Structure and function of alpha-tocopherol transfer protein: implications for vitamin E metabolism and AVED. 17628170 2007
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 Biomarker disease BEFREE These diseases are due to mutations in specific genes, some of which have been identified, such as frataxin in Friedreich ataxia, alpha-tocopherol transfer protein in ataxia with vitamin E deficiency (AVED), aprataxin in ataxia with oculomotor apraxia (AOA1), and senataxin in ataxia with oculomotor apraxia (AOA2). 17112370 2006
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
Ataxia with vitamin E deficiency 		1.000 CausalMutation disease CLINVAR Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients. 15953402 2005
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 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 CausalMutation 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 CLINVAR Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. 15300460 2004