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type 4 Hemochromatosis

Also Known As:
Hemochromatosis, type 4; Hemochromatosis due to defect in ferroportin; Hemochromatosis, autosomal dominant
Networked: 11 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

Experts

1. Jouanolle, Anne-Marie: 2 articles (07/2008 - 01/2004)
2. Tannapfel, A: 1 article (09/2014)
3. Muehlenberg, K: 1 article (09/2014)
4. Callebaut, Isabelle: 1 article (09/2014)
5. Cartault, François: 1 article (09/2014)
6. Férec, Claude: 1 article (09/2014)
7. Joubrel, Rozenn: 1 article (09/2014)
8. Pissard, Serge: 1 article (09/2014)
9. Lohse, P: 1 article (09/2014)
10. Grandchamp, Bernard: 1 article (09/2014)

Related Diseases

1. Iron Overload
02/01/2013 - "Dozens of FPN gene mutations have been identified in different ethnic populations and some of the mutations are associated with autosomal dominant iron overload disorder described as FPN disease or hemochromatosis type 4 that is distinct from hereditary hemochromatosis due to HFE mutations. "
09/01/2014 - "Iron overload in MR-imaging with decreased signal intensity in T2 weighting of liver, spleen, adrenal gland and pituitary gland in combination with an extremely elevated ferritin level of 9859  ng/mL and a positive family history of hyperferritinaemia led to the diagnosis of the rare hemochromatosis type 4 (synonym: ferroportin disease) in the case of a 62-year-old patient. "
09/01/2014 - "Hemochromatosis type 4 is a rare form of primary iron overload transmitted as an autosomal dominant trait caused by mutations in the gene encoding the iron transport protein ferroportin 1 (SLC40A1). "
08/05/2014 - "We have introduced a point mutation (C326S) into the murine Fpn locus, resembling human hereditary hemochromatosis type 4, including elevated plasma iron and ferritin levels, high transferrin saturation, hepatic iron overload, and iron depletion of duodenal enterocytes and reticuloendothelial macrophages. "
10/01/2002 - "Plasma iron, together with dominant inheritance, discriminates iron overload due to ferroportin mutations (hemochromatosis type 4) from hemochromatosis type 1. Heme oxygenase 1 is essential for the catabolism of heme and in the recycling of hemoglobin iron in macrophages. "
2. Hemochromatosis (Bronze Diabetes)
3. Hypertrophy
4. Friedreich Ataxia (Friedreich's Ataxia)
5. Anemia

Related Drugs and Biologics

1. Iron
2. metal transporting protein 1 (ferroportin)
3. Ferritins (Ferritin)
4. Transferrin (beta 2 Transferrin)
5. Heme Oxygenase-1
6. Transferrin Receptors (Transferrin Receptor)
7. Hemoglobins (Hemoglobin)
8. Heme (Haem)
9. type 3 Hemochromatosis
10. type 2 Hemochromatosis