hemochromatosis

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Information
Disease name
hemochromatosis
Disease ID
DOID:2352
Description
"A metal metabolism disorder characterized by the accumulation of iron in various organs of the body." [url:http\://en.wikipedia.org/wiki/HFE_hereditary_haemochromatosis, url:http\://ghr.nlm.nih.gov/condition/hemochromatosis, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/13/viewAbstract]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
Genes Mutation Description Source Links
NCT ID Status Phase Summary Start date Completion date
NCT00007150 Active, not recruiting Phase 2 Treatment of Hemochromatosis January 1, 2001 December 31, 2025
NCT00001203 Completed Deferoxamine for the Treatment of Hemochromatosis April 22, 1985 November 9, 2015
NCT00001455 Completed Iron Overload in African Americans June 1995 June 2000
NCT00005541 Completed Hemochromatosis and Iron Overload Screening Study (HEIRS) January 2000 January 2006
NCT00005559 Completed Statistical Basis for Hemochromatosis Screening July 1997 June 2000
NCT00006312 Completed Hemochromatosis--Genetic Prevalence and Penetrance July 1999 May 2003
NCT00000595 Completed Phase 2 Evaluation of Subcutaneous Desferrioxamine as Treatment for Transfusional Hemochromatosis January 1978 September 1994
NCT00202436 Completed Phase 3 Haemochromatosis:Phlebotomy Versus Erythrocytapheresis Therapy October 2004 September 2009
NCT00349453 Completed Phase 2 Study Using Deferiprone Alone or in Combination With Desferrioxamine in Iron Overloaded Transfusion-dependent Patients March 2005 May 2011
NCT00350662 Completed Phase 3 Study With Deferiprone and/or Desferrioxamine in Iron Overloaded Patients January 2002
NCT00587535 Completed Evaluation of a New MR Pulse Sequence to Quantify Liver Iron Concentration August 2003 July 2011
NCT00712738 Completed Phase 1 Oral Nifedipine to Treat Iron Overload June 20, 2008 September 22, 2010
NCT03654794 Completed Study of the Cellular Diffusion of Tacrolimus Across the Membrane of Mononuclear Cells October 24, 2013 July 6, 2017
NCT04631718 Completed MRI QSM Imaging for Iron Overload January 18, 2022 April 29, 2024
NCT00199628 Completed Research Network for Neonatal Diseases Induced by Tissular Fetomaternal Alloimmunization September 2005 August 2014
NCT02025543 Enrolling by invitation Confounder-Corrected Quantitative MRI Biomarker of Hepatic Iron Content August 12, 2015 September 2024
NCT06137079 Recruiting "Iron Overload and Endocrinological Diseases" June 20, 2013 December 31, 2025
NCT00122980 Terminated Phase 3 Stroke With Transfusions Changing to Hydroxyurea October 2006 December 2010
NCT03743272 Unknown status Repeatability and Reproducibility of Multiparametric MRI June 3, 2017 November 1, 2022
NCT01524757 Unknown status N/A Proton Pump Inhibitors in the Prevention of Iron Reaccumulation in Patient With Hereditary Hemochromatosis March 2012 August 2013
NCT00509652 Unknown status N/A Erythrocyte Apheresis Versus Phlebotomy in Hemochromatosis January 2006 December 2009
NCT01892644 Withdrawn Phase 2 Treatment of Iron Overload With Deferasirox (Exjade) in Hereditary Hemochromatosis and Myelodysplastic Syndrome May 2013 January 2017
Disase is a (Disease Ontology)
DOID:896
Cross Reference ID (Disease Ontology)
ICD10CM:E83.11
Cross Reference ID (Disease Ontology)
MESH:D006432
Cross Reference ID (Disease Ontology)
MIM:231100
Cross Reference ID (Disease Ontology)
MIM:PS235200
Cross Reference ID (Disease Ontology)
NCI:C82892
Cross Reference ID (Disease Ontology)
ORDO:139498
Cross Reference ID (Disease Ontology)
SNOMEDCT_US_2023_03_01:86781004
Cross Reference ID (Disease Ontology)
UMLS_CUI:C0018995
Exact Synonym (Disease Ontology)
diabetes bronze
Exact Synonym (Disease Ontology)
Haemochromatosis
Exact Synonym (Disease Ontology)
iron storage disorder
OMIM Phenotype Series Number (OMIM)
PS235200
MeSH unique ID (MeSH (Medical Subject Headings))
D006432