Folate Malabsorption, Hereditary
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Folate Malabsorption, Hereditary
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
Folate Malabsorption, Hereditary
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hereditary folate malabsorption is a rare inborn error of metabolism due to mutations in the proton-coupled folate transporter (PCFT).
|
19740703 |
2009 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hereditary folate malabsorption (HFM) is an autosomal recessive disorder characterized by impaired intestinal folate absorption and impaired folate transport across the choroid plexus due to loss of function of the proton-coupled folate transporter (PCFT-SLC46A1).
|
29344585 |
2018 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hereditary folate malabsorption with a novel mutation on SLC46A1: A case report.
|
29390264 |
2017 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hereditary folate malabsorption is a multisystem disease owing to biallelic variants in the gene encoding the proton-coupled folate transporter.
|
31371121 |
2020 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
PCFT is critical to intestinal folate absorption and transport into the central nervous system because there are loss-of-function mutations in this gene in the autosomal recessive disorder, hereditary folate malabsorption.
|
19074442 |
2009 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
PCFT was identified in 2006 as the primary transporter for intestinal absorption of dietary folates, as mutations in PCFT are causal in hereditary folate malabsorption (HFM) syndrome.
|
22954694 |
2012 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A P425R mutation of the proton-coupled folate transporter causing hereditary folate malabsorption produces a highly selective alteration in folate binding.
|
22345511 |
2012 |
Folate Malabsorption, Hereditary
|
0.800 |
Biomarker
|
disease |
BEFREE |
A deep intronic mutation of c.1166-285 T > G in SLC46A1 is shared by four unrelated Japanese patients with hereditary folate malabsorption (HFM).
|
31494288 |
2019 |
Folate Malabsorption, Hereditary
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A family study of congenital malabsorption of folate.
|
11804211 |
2001 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel PCFT gene mutation (p.Cys66LeufsX99) causing hereditary folate malabsorption.
|
20005757 |
2010 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel deletion mutation in the proton-coupled folate transporter (PCFT; SLC46A1) in a Nicaraguan child with hereditary folate malabsorption.
|
23816405 |
2013 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel loss-of-function mutation in the proton-coupled folate transporter from a patient with hereditary folate malabsorption reveals that Arg 113 is crucial for function.
|
18559978 |
2008 |
Folate Malabsorption, Hereditary
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Functional roles of aspartate residues of the proton-coupled folate transporter (PCFT-SLC46A1); a D156Y mutation causing hereditary folate malabsorption.
|
20805364 |
2010 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Functional roles of aspartate residues of the proton-coupled folate transporter (PCFT-SLC46A1); a D156Y mutation causing hereditary folate malabsorption.
|
20805364 |
2010 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Functional roles of the A335 and G338 residues of the proton-coupled folate transporter (PCFT-SLC46A1) mutated in hereditary folate malabsorption.
|
22843796 |
2012 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
However, it was only recently that the proton-coupled folate transporter (PCFT) was identified and its critical role in folate transport across the apical brush-border membrane of the proximal small intestine established by the loss-of-function mutations identified in the PCFT gene in subjects with hereditary folate malabsorption and, more recently, by the Pcft-null mouse.
|
24512081 |
2014 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption.
|
17129779 |
2006 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification of novel mutations in the proton-coupled folate transporter (PCFT-SLC46A1) associated with hereditary folate malabsorption.
|
21333572 |
2011 |
Folate Malabsorption, Hereditary
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
In this report, novel mutations are described in three subjects with HFM: A335D/N68Kfs (c.1004C>A/c.204-205delCC), compound heterozygous mutations, and two homozygous PCFT mutations, G338R (c.1012G>C) and E9Gfs (c.17-18insC).
|
21333572 |
2011 |
Folate Malabsorption, Hereditary
|
0.800 |
Biomarker
|
disease |
BEFREE |
In this report, we describe a new murine model of the hereditary folate malabsorption syndrome that we developed through targeted disruption of the first 3 coding exons of the murine homolog of the PCFT gene.
|
21346251 |
2011 |
Folate Malabsorption, Hereditary
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Loss of PCFT function, as occurs in the autosomal recessive disorder "hereditary folate malabsorption" (HFM), results in a syndrome characterized by severe systemic and cerebral folate deficiency.
|
27664775 |
2017 |