SLC40A1, solute carrier family 40 member 1, 30061

N. diseases: 101; N. variants: 31
Disease: Hemochromatosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE Our findings provide an unprecedented view of the human FPN1 outward-facing structure and the particular function of the so-called "gating residues" in the mechanism of iron export.-Guellec, J., Elbahnsi, A., Le Tertre, M., Uguen, K., Gourlaouen, I., Férec, C., Ka, C., Callebaut, I., Le Gac, G. Molecular model of the ferroportin intracellular gate and implications for the human iron transport cycle and hemochromatosis type 4A. 31690120 2019
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE In the present study, we tried to investigate the frequency and pathogenicity of the SLC40A1 p.Y333H mutation in haemochromatosis in China. 30500107 2019
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 Biomarker disease BEFREE Mutations in SLC40A1 (also known as FPN1; encoding ferroportin) that prevent hepcidin-ferroportin binding also cause haemochromatosis. 29620054 2018
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 AlteredExpression disease BEFREE Non-mutagenic Suppression of Enterocyte Ferroportin 1 by Chemical Ribosomal Inactivation via p38 Mitogen-activated Protein Kinase (MAPK)-mediated Regulation: EVIDENCE FOR ENVIRONMENTAL HEMOCHROMATOSIS. 27445333 2016
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE SLC40A1 mutations fall into two functional categories (loss- versus gain-of-function) underlying two distinct clinical entities (hemochromatosis type 4A versus type 4B). 24714983 2014
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 Biomarker disease BEFREE Mutations in the HFE, TFR2, and SLC40A1 genes in patients with hemochromatosis. 22890139 2012
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 Biomarker disease CTD_human To screen exon-by-exon DNA sequences of HFE, HJV, HAMP, TFR2 and SLC40A1 genes to characterize the molecular basis of HH in a sample of the Brazilian population. 21411349 2011
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE Does the SLC40A1 gene modify HFE-related haemochromatosis phenotypes? 18820912 2009
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE The second subgroup of hemochromatosis is caused by autosomal dominant mutations in the SLC40A1 gene encoding the iron exporter ferroportin with distinctive features. 19907151 2009
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE Mutations in the SLC40A1 gene result in a dominant genetic disorder [ferroportin disease; hereditary hemochromatosis type (HH) IV], characterized by iron overload with two different clinical manifestations, normal transferrin saturation with macrophage iron accumulation (the most prevalent type) or high transferrin saturation with hepatocyte iron accumulation (classical hemochromatosis phenotype). 17997113 2008
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 Biomarker disease BEFREE We used a standard 96-well microplate with a single PCR condition in an adaptation of the SCAIP (single-condition amplification with internal primer) method to sequence the HFE (hemochromatosis), HAMP (hepcidin antimicrobial peptide), HFE2/HJV [hemochromatosis type 2 (juvenile)], SLC40A1 (ferroportin), and TFR2 (transferrin receptor 2) genes, and the 5' untranslated region of the FTL (ferritin, light polypeptide) gene. 17951290 2007
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE We conclude that this patient represents a unique example of hemochromatosis due to a single base-pair mutation of SLC40A1 that results in aberrant splicing and truncation of ferroportin. 18160816 2007
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 Biomarker disease CTD_human Wild-type and mutant ferroportins do not form oligomers in transfected cells. 16457665 2006
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 Biomarker disease BEFREE Mutations in the iron exporter ferroportin (Fpn) (IREG1, SLC40A1, and MTP1) result in hemochromatosis type IV, a disorder with a dominant genetic pattern of inheritance and heterogeneous clinical presentation. 15956209 2005
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE Recently, ferroportin 1 mutations leading to hemochromatosis (HFE4) have been identified. 15935710 2005
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease LHGDN A novel ferroportin disease in a Japanese patient. 15942076 2005
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE Mutations in the gene encoding ferroportin 1, a cellular iron exporter, are responsible for this iron storage disease, inherited as an autosomal dominant trait. 15986403 2005
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE Type IV hemochromatosis is associated with dominant mutations in the SLC40A1 gene encoding ferroportin (FPN). 15692071 2005
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease LHGDN Type IV hemochromatosis is associated with dominant mutations in the SLC40A1 gene encoding ferroportin (FPN). 15692071 2005
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease LHGDN Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features. 15727899 2005
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease LHGDN It was suggested that the mutation in the ferroportin 1 may be related to hemochromatosis of this patient. 15897636 2005
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease BEFREE Dominant hemochromatosis due to N144H mutation of SLC11A3: clinical and biological characteristics. 12547233 2003
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 GeneticVariation disease LHGDN A study of genes that may modulate the expression of hereditary hemochromatosis: transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)-1 and -2, and hepcidin. 11783942 2003
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 Biomarker disease BEFREE Duodenal expression of DMT1 (IRE) and Ireg1 was similar in haemochromatosis patients and iron replete subjects but in haemochromatosis patients with elevated serum ferritin concentrations, both DMT1 (IRE) and Ireg1 expression were inappropriately increased relative to serum ferritin concentration. 12801950 2003
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		0.400 AlteredExpression disease BEFREE Hepatic IREG1 expression was greatly upregulated in patients with haemochromatosis (1.8-fold, 95% CI 1.5-2.2; p=0.002). 12606179 2003