SLC40A1, solute carrier family 40 member 1, 30061

N. diseases: 101; N. variants: 31
Disease: Iron Overload ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 AlteredExpression disease BEFREE In addition, significantly up-regulated expression of FtH and FtL mRNA, and markedly down-regulated expression of Tfr1, Dmt1 + IRE and Ireg1 mRNA, were observed in the iron overload group compared with the control group. 30027360 2018
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 GeneticVariation disease BEFREE These findings and the iron overload phenotype of the patient suggest that the novel mutation c.386T>C (p.L129P) in the SLC40A1 gene has incomplete penetrance and causes the classical form of ferroportin disease. 24644245 2014
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 AlteredExpression disease BEFREE To further investigate the role of intracellular hepcidin under iron overload circumstances, we assessed the expression of hepcidin mRNA and FPN1 protein in vitro. 22659129 2012
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 GeneticVariation disease BEFREE Patients with the SLC40A1 genotype were affected by mild iron overload (ferroportin A) or severe iron overload (ferroportin B). 22924847 2012
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 GeneticVariation disease BEFREE Mild iron overload in an African American man with SLC40A1 D270V. 22584997 2012
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 GeneticVariation disease BEFREE A patient heterozygous for the variant p.W158C in SLC40A1 presented with macrophage iron overload, hyperferritinemia, and normal transferrin saturation. 21396368 2011
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 GeneticVariation disease BEFREE The patient presented a mild iron overload phenotype probably because of the two novel mutations in the HFE and SLC40A1 genes. 21175851 2011
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 GeneticVariation disease BEFREE The HJV p.E302K and HAMP p.R59G variants, and the novel SLC40A1 p.G204S mutation may also be linked to primary iron overload but their role in the pathophysiology of HH remain to be elucidated. 21411349 2011
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 GeneticVariation disease BEFREE A novel SLC40A1 mutation p.R489K segregated with iron overload in a family with clinical and histopathological signs of macrophage-type ferroportin disease. 19937651 2010
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 Biomarker disease BEFREE We measured serum iron parameters and hepcidin-25 levels followed by sequencing HFE, HJV, HAMP, TFR2, and SLC40A1 genes in 13 Japanese patients with iron overload syndromes. 20533066 2010
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 GeneticVariation disease BEFREE A novel missense mutation in SLC40A1 results in resistance to hepcidin and confirms the existence of two ferroportin-associated iron overload diseases. 19709084 2009
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 GeneticVariation disease BEFREE The main objective of this work was to study the role of variants in the SLC40A1 gene in the severity of iron overload and his clinical consequences in 100 Spanish probands homozygous for the C282Y mutation of the HFE gene. 18820912 2009
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 Biomarker disease BEFREE Ferroportin-1 in the recurrence of hepatic iron overload after liver transplantation. 18337195 2009
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 GeneticVariation disease BEFREE Multi-organ iron overload in an African-American man with ALAS2 R452S and SLC40A1 R561G. 19066423 2008
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 GeneticVariation disease BEFREE Novel mutations of the ferroportin gene (SLC40A1): analysis of 56 consecutive patients with unexplained iron overload. 18177470 2008
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 GeneticVariation disease BEFREE The simultaneous detection of 18 known HFE, TFR2 and FPN1 mutations and sequencing of the HAMP gene were performed to rule out the possible existence of genetic modifier factors related with iron overload. 17042772 2007
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 GeneticVariation disease LHGDN A novel mutation in ferroportin implicated in iron overload. 17383046 2007
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 Biomarker disease CTD_human Magnetic resonance imaging to identify classic and nonclassic forms of ferroportin disease. 17052926 2007
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 GeneticVariation disease BEFREE SLC40A1 Q248H allele frequencies and Q248H-associated risk of non-HFE iron overload in persons of sub-Saharan African descent. 17490902 2007
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 GeneticVariation disease BEFREE Four types of inherited iron overload have been recognized: type 1, the most common form with an autosomal recessive inheritance, is associated with mutations in the HFE gene on chromosome 6; type 2 (juvenile hemochromatosis) is an autosomal recessive disorder with causative mutations identified in the HJV gene (subtype A) on chromosome 1 and the HAMP gene (subtype B) on chromosome 19; type 3 has also an autosomal recessive inheritance with mutations in the TfR2 gene on chromosome 3; type 4 is an autosomal dominant condition with heterozygous mutations in the ferroportin 1 gene on chromosome 2. 16493621 2006
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 GeneticVariation disease BEFREE SLC40A1 gene mutations are associated with an autosomal type of genetic iron overload described as haemochromatosis type 4, or HFE4 (Online Mendelian Inheritance in Man number 606069), or ferroportin disease. 16351644 2005
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 GeneticVariation disease BEFREE Four genes are responsible for the distinct types of non-HFE haemochromatosis: hepcidin and hemojuvelin are the genes involved in type 2 or juvenile haemochromatosis, transferrin receptor 2 is involved in type 3 haemochromatosis, and ferroportin 1 is mutated in type 4, the atypical dominant form of primary iron overload. 15737887 2005
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 AlteredExpression disease BEFREE Impaired iron transport activity of ferroportin 1 in hereditary iron overload. 16440176 2005
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 GeneticVariation disease BEFREE We analyzed the ferroportin 1 gene in 19 unrelated patients from southern Africa (N = 15) and the United States (N = 4) presenting with primary iron overload. 14636642 2004
CUI: C0282193
Disease: Iron Overload
Iron Overload 		0.400 AlteredExpression disease BEFREE In conclusion, the lack of correlation between DMT1 and Ireg1 protein expression and the liver iron content suggests that elevated duodenal iron transporter expression is not required for high liver iron overload. 14618243 2004