Cytopenias and congenital anaemiasGene: SLC46A1
Hereditary folate malabsorption is an autosomal recessive disorder, shown to be due to loss-of-function mutations of the proton-coupled folate transporter (SLC46A1). Affected individuals present with early onset macrocytic anemia, thrombocytopenia, neutropenia, leukopenianand/or pancytopenia.
Sources: Expert Review, Literature
Created: 8 Jun 2019, 9:51 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Folate malabsorption; anemia; pancytopenia
gene: SLC46A1 was added gene: SLC46A1 was added to Cytopenias and congenital anaemias. Sources: Expert Review,Literature Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC46A1 were set to PMID: 21333572; 17446347; 29390264; 11804211; 17641272 Phenotypes for gene: SLC46A1 were set to Folate malabsorption; anemia; pancytopenia Review for gene: SLC46A1 was set to GREEN