HC
MCID: HMC003
MIFTS: 73

Hemochromatosis (HC) malady

Genetic category

Summaries for Hemochromatosis

Sources:
43NIH Rare Diseases, 34MedlinePlus, 3CDC, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
See all sources

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MedlinePlus:34 Hemochromatosis is a disease in which too much iron builds up in your body. your body needs iron but too much of it is toxic. if you have hemochromatosis, you absorb more iron than you need. your body has no natural way to get rid of the extra iron. it stores it in body tissues, especially the liver, heart, and pancreas. the extra iron can damage your organs. without treatment, it can cause your organs to fail. there are two types of hemochromatosis. primary hemochromatosis is an inherited disease. secondary hemochromatosis is usually the result of something else, such as anemia, thalassemia, liver disease, or blood transfusions. many symptoms of hemochromatosis are similar to those of other diseases. not everyone has symptoms. if you do, you may have joint pain, fatigue, general weakness, weight loss, and stomach pain. your doctor will diagnose hemochromatosis based on your medical and family histories, a physical exam, and the results from tests and procedures. treatments include removing blood (and iron) from your body, medicines, and changes in your diet. nih: national heart, lung, and blood institute

MalaCards: Hemochromatosis, also known as hereditary hemochromatosis, is related to porphyria cutanea tarda and hemosiderosis. An important gene associated with Hemochromatosis is HFE (hemochromatosis), and among its related pathways are SLC-mediated transmembrane transport and Insulin receptor recycling. The drug deferoxamine mesylate and the compounds iron and ascorbic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, ovary and liver, and related mouse phenotypes are homeostasis/metabolism and liver/biliary system.

NIH Rare Diseases:43 Hemochromatosis is a disease in which too much iron builds up in the body.  this extra iron is toxic to the body and can damage the organs. early symptoms of hemochromatosis are nonspecific and may include fatigue, joint pain, abdominal pain, and loss of sex drive. later signs and symptoms can include arthritis, liver disease, diabetes, heart abnormalities, and skin discoloration.hemochromatosis may be acquired or hereditary. hereditary hemochromatosis is classified by type depending on the age of onset and other factors such as genetic cause and mode of inheritance. to learn more about the specific types of hereditary hemochromatosis click on the disease names below: hemochromotosis type 1hemochromatosis type 2hemochromatosis type 3hemochromatosis type 4there is also a neonatal form of hemochromatosis:neonatal hemochromatosis last updated: 5/21/2012

CDC:3 Online Training - Online training course for clinicians and health professionals.

Genetics Home Reference:21 Hemochromatosis is a disorder that causes the body to absorb too much iron from the diet. The excess iron is stored in the body's tissues and organs, particularly the skin, heart, liver, pancreas, and joints. Because humans cannot increase the excretion of iron, excess iron can overload and eventually damage tissues and organs. For this reason, hemochromatosis is also called an iron overload disorder.

Wikipedia:64 In medicine, iron overload indicates accumulation of iron in the body from any cause. The most important... more...

Description from OMIM:47 604250,613313,606069,602390,235200

Aliases & Classifications for Hemochromatosis

Sources:
8Disease Ontology, 9diseasecard, 64Wikipedia, 43NIH Rare Diseases, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 45Novoseek, 34MedlinePlus, 61UMLS, 35MeSH, 57SNOMED-CT, 40NCIt
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic


Aliases & Descriptions:

hemochromatosis 8 9 64 43 21 47 10 45 34 61
hereditary hemochromatosis 64 22 45 61
iron storage disorder 8 64 21
haemochromatosis 8 64 21
bronze diabetes 8 64 21
von recklenhausen-applebaum disease 64 21
troisier-hanot-chauffard syndrome 64 21
familial hemochromatosis 64 21
genetic hemochromatosis 64 21
primary hemochromatosis 64 21
bronzed cirrhosis 64 21
hemochromatoses 64 21
hlah 64 21
hfe-associated hemochromatosis 64
pigmentary cirrhosis 21
bronzed diabetes 8
diabetes bronze 8
hh 21
hc 21


External Ids:

Disease Ontology8 DOID:2352
MeSH35 D006432
NCIt40 C84481

Related Diseases for Hemochromatosis

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Hemochromatosis family:

hemochromatosis type 2 hemochromatosis, type 3
hemochromatosis type 1 hemochromatosis type 4
hemochromatosis, type 2a hemochromatosis, type 5
hemochromatosis, type 2b

Diseases related to Hemochromatosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 237)
idRelated DiseaseScoreTop Affiliating Genes
1porphyria cutanea tarda30.9HFE, HLA-H
2hemosiderosis30.8TF, HFE, FTL
3thalassemia30.7HFE, FTL, SLC11A2, TFRC, TF, HAMP
4hepatitis c30.7TF, TFR2, HFE, HP, SLC11A2
5hemochromatosis, type 330.7TFR2, HFE
6hemochromatosis type 430.7SLC40A1, TFR2
7siderosis30.6TF, TFRC, HFE, FTL, SLC40A1
8hemochromatosis type 230.6HFE2, HAMP
9beta thalassemia30.4TF, TFRC, HFE
10arthropathy30.4HFE, TF, BMP2
11arthritis30.4BMP2, TFR2, HFE, FTL, HP
12hereditary spherocytosis30.3TFRC, HFE
13hfe-associated hereditary hemochromatosis30.3HFE
14wilson disease30.3HFE, TF
15celiac disease30.2HFE, TFRC
16deficiency anemia30.1HEPH, HAMP, TF, TFR2, TFRC, HFE
17bantu siderosis30.1HFE, TF
18fatty liver disease30.1TF, HFE, HP
19iron deficiency anemia29.9HEPH, TF, TFRC, HFE, SLC11A2, SLC40A1
20hyperferritinemia cataract syndrome29.9TF, HFE, FTL
21myelodysplastic syndromes29.9TF, TFRC, HFE
22hepatitis b29.9HFE, TFRC
23diabetic nephropathy29.7BMP2, TF, TFRC, HFE, HP, SLC11A2
24aceruloplasminemia29.7HEPH, HAMP, TFR2, HFE2
25sickle cell disease29.7TF, TFRC, HP
26cystic fibrosis29.7HP
27megaloblastic anemia29.7TFRC, HP
28alzheimer's disease29.7SLC11A2, HFE
29tuberculosis29.7SLC11A2, HP
30neonatal hemochromatosis10.9
31hemochromatosis type 110.4
32hepatitis a10.3
33hemochromatosis, type 2a10.3
34tfr2-related hereditary hemochromatosis10.3
35hypotrichosis simplex10.3
36refractory anemia10.2
37hypogonadotropic hypogonadism 2 with or without anosmia10.2
38juvenile hereditary hemochromatosis10.2
39haemochromatosis type 410.2
40tetanus10.2
41aplastic anemia10.2
42hepatitis c virus10.2
43diamond-blackfan anemia10.1
44congenital dyserythropoietic anemia10.1
45hepatitis d10.1
46n syndrome10.1
47meconium ileus10.1
48ileus10.1
49biotin deficiency10.1
50holocarboxylase synthetase deficiency10.1

Graphical network of the top 20 diseases related to Hemochromatosis:



Diseases related to hemochromatosis

Clinical Features for Hemochromatosis

Sources:
47OMIM
See all sources

Clinical features from OMIM:

604250,613313,606069,602390,235200

Clinical synopsis from OMIM:

235200

Drugs & Therapeutics for Hemochromatosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Hemochromatosis

Drug clinical trials:

Search ClinicalTrials for Hemochromatosis

Search NIH Clinical Center for Hemochromatosis

Search CenterWatch for Hemochromatosis

Inferred drug relations via UMLS61/NDF-RT41:

Genetic Tests for Hemochromatosis

Sources:
22GTR
See all sources

Genetic tests related to Hemochromatosis:

id Genetic test Affiliating Genes
1 Hereditary Hemochromatosis22

Anatomical Context for Hemochromatosis

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Hemochromatosis:

33
Skin, Ovary, Liver, Tongue, Brain, Kidney, Lung, Bone marrow, Heart, Colon, Pancreas, Thyroid, Salivary gland, Adrenal gland, Breast, Placenta, Prostate, Monocytes, T cells, B lymphoblasts, B cells, Endothelial, Fetal brain, Fetal liver, Fetal thyroid, Pituitary

Animal Models for Hemochromatosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Hemochromatosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537610.8TFR2, TF, BMP2, HAMP, HEPH, TFRC
2MP:000537010.8SLC40A1, HEPH, TFR2, TFRC, HFE, HFE2
3MP:000537810.7BMP2, TF, TFR2, TFRC, HFE, FXN
4MP:000539710.7HEPH, MR1, HAMP, TF, TFR2, TFRC
5MP:000538710.4TFR2, HAMP, MR1, HEPH, TFRC, HFE

Publications for Hemochromatosis

Sources:
51PubMed
See all sources

Articles related to Hemochromatosis:

(show top 50)    (show all 1156)
idTitleAuthorsYear
1
Endoscopic and Histologic Abnormalities of Gastrointestinal Tract in Patients With Hereditary Hemochromatosis. (24045277)
2013
2
Hereditary hemochromatosis: implications for South Dakota physicians. (23342715)
2013
3
Liver transplantation normalizes serum hepcidin level and cures iron metabolism alterations in HFE hemochromatosis. (23775519)
2013
4
Identification of a novel mutation in the HAMP gene that causes non-detectable hepcidin molecules in a Japanese male patient with juvenile hemochromatosis. (22297252)
2012
5
Incidence of cardiac arrhythmias in asymptomatic hereditary hemochromatosis subjects with C282Y homozygosity. (22196777)
2012
6
C282Y hemochromatosis gene mutation and iron parameters in dialysis patients. (21426887)
2011
7
HFE Cys282Tyr homozygotes with serum ferritin concentrations below 1000 microg/L are at low risk of hemochromatosis. (20583211)
2010
8
Successful allogeneic bone marrow transplantation for diamond-blackfan anemia complicated by severe cardiac dysfunction due to transfusion-induced hemochromatosis. (20190482)
2010
9
Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn. (19887127)
2010
10
Rare acute hepatitis in a female patient with hemochromatosis: a zoonosis?]. (20455055)
2010
11
The C282Y polymorphism of the hereditary hemochromatosis gene is associated with increased sex hormone-binding globulin and normal testosterone levels in men. (20160468)
2010
12
Bone morphogenetic protein signaling is impaired in an HFE knockout mouse model of hemochromatosis. (19591830)
2009
13
Is the iron donor lipocalin 2 implicated in the pathophysiology of hereditary hemochromatosis? (19152427)
2009
14
A novel HFE mutation (c.del478) results in nonsense-mediated decay of the mutant transcript in a hemochromatosis patient. (19477142)
2009
15
The treatment of secondary hemochromatosis. (19727383)
2009
16
Diagnosis of hepatic iron overload: a family study illustrating pitfalls in diagnosing hemochromatosis. (19214108)
2009
17
HFE-Related Hemochromatosis: The Haptoglobin 2-2 Type Has a Significant but Limited Influence on Phenotypic Expression of the Predominant p.C282Y Homozygous Genotype. (19960042)
2009
18
Distribution of HFE gene mutations in Slovenian patients with hereditary hemochromatosis. (18317757)
2008
19
Mutations in the hemochromatosis gene and the clinical outcome of multiple sclerosis. (18675463)
2008
20
Family-based detection for hereditary hemochromatosis. (17952576)
2008
21
The hereditary hemochromatosis protein, HFE, inhibits iron uptake via down-regulation of Zip14 in HepG2 cells. (18524764)
2008
22
Iron-mediated inhibition of mitochondrial manganese uptake mediates mitochondrial dysfunction in a mouse model of hemochromatosis. (18317567)
2008
23
Clinical penetrance of hereditary hemochromatosis. (18199868)
2008
24
Compound heterozygote (C282Y/H63D) of hereditary hemochromatosis in a 16-year-old girl with hypoplastic kidney. (17483072)
2007
25
Population-based study of the relationship between mutations in the hemochromatosis (HFE) gene and arthritis. (16638105)
2006
26
Transferrin saturation in the diagnostic algorithm of genetic hemochromatosis]. (16624237)
2006
27
Tumor necrosis factor-alpha -308G>A allelic variant modulates iron accumulation in patients with hereditary hemochromatosis. (16793930)
2006
28
The significance of the hemochromatosis genetic variants in multiple myeloma in comparison to that of myelodysplastic syndrome. (17001480)
2006
29
Prediction of progression to cirrhosis by a glutathione S-transferase P1 polymorphism in subjects with hereditary hemochromatosis. (16157826)
2005
30
Association between hemochromatosis genotype and lead exposure among elderly men: the normative aging study. (15121519)
2004
31
Does bilirubin protect against hemochromatosis gene (HFE) related mortality? (15266614)
2004
32
Increased prevalence of the HFE C282Y hemochromatosis allele in women with breast cancer. (14973098)
2004
33
Hemochromatosis mutations in the general population: iron overload progression rate. (15070663)
2004
34
Expression of hepcidin in hereditary hemochromatosis: evidence for a regulation in response to the serum transferrin saturation and to non-transferrin-bound iron. (12637325)
2003
35
Genotyping of hemochromatosis-associated mutations in the HFE gene by PCR-RFLP and a novel reverse hybridization method. (11939483)
2002
36
Genetic counseling in neonatal hemochromatosis. (11973777)
2002
37
A prospective study of coronary heart disease and the hemochromatosis gene (HFE) C282Y mutation: the Atherosclerosis Risk in Communities (ARIC) study. (11257277)
2001
38
Acceptance of neonatal genetic screening for hereditary hemochromatosis by informed parents. (11960577)
2001
39
Primary liver carcinoma in genetic hemochromatosis reveals a broad histologic spectrum. (11710692)
2001
40
A pilot C282Y hemochromatosis screening in Italian newborns by TaqMan technology. (10953958)
2000
41
beta-thalassemia trait might increase the severity of hemochromatosis in subjects with the C282Y mutation in the HFE gene. (10706769)
2000
42
Alternate splice variants of the hemochromatosis gene Hfe. (10079302)
1999
43
Denaturing gradient gel electrophoresis analysis of the hemochromatosis (HFE) gene: impact of HFE gene mutations on the manifestation of porphyria cutanea tarda. (10545080)
1999
44
Heterozygosity for the C282Y mutation in the hemochromatosis gene is associated with increased serum iron, transferrin saturation, and hemoglobin in young women: a protective role against iron deficiency? (9836708)
1998
45
The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. (9465039)
1998
46
A strategy for cloning the hereditary hemochromatosis gene. (8673473)
1995
47
Prevalence of heterozygotes for hemochromatosis in the white population of the United States. (7655030)
1995
48
Hemochromatosis, multiorgan hemosiderosis, and coronary artery disease. (8022042)
1994
49
The iron content of jejunal mucosa obtained by Crosby's biopsy in hemochromatosis and hemosiderosis. (5944263)
1966
50
IDIOPATHIC HEMOCHROMATOSIS AND BANTU SIDEROSIS. (14327819)
1965

Genetic Variations for Hemochromatosis

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Hemochromatosis:

63 (show all 12)
id Symbol AA change Variation SNP ID
1HFEp.Ser65CysVAR_004397rs1800730
2HFEp.Cys282TyrVAR_004398rs1800562
3HFEp.Gln127HisVAR_008113rs28934595
4HFEp.Arg330MetVAR_008114
5HFEp.Gly93ArgVAR_008729rs28934597
6HFEp.Ile105ThrVAR_008730rs28934596
7HFEp.Gln283ProVAR_037304
8HFEp.Arg6SerVAR_042506
9HFEp.Gly43AspVAR_042507
10HFEp.Arg66CysVAR_042508
11HFEp.Arg224GlyVAR_042510
12HFEp.Val295AlaVAR_042511rs143175221

Expression for genes affiliated with Hemochromatosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Hemochromatosis

Search GEO for disease gene expression data for Hemochromatosis.

Pathways for genes affiliated with Hemochromatosis

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG
See all sources

Compounds for genes affiliated with Hemochromatosis

Sources:
45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR, 2BitterDB, 50PharmGKB
See all sources

Compounds related to Hemochromatosis according to GeneCards/GeneDecks:

(show all 38)
idCompoundScoreTop Affiliating Genes
1iron45 2412.3SLC40A1, HEPH, MR1, UBE2D1, HAMP, TF
2ascorbic acid45 2412.1BMP2, TF, TFRC, MT-CYB, HFE, CYBRD1
3deferoxamine45 1112.1TF, TFR2, TFRC, FTL, HP, FXN
4copper45 2412.0HEPH, TF, MT-CYB, HFE, HP, SLC11A2
5fe2+4511.0TF, TFRC, MT-CYB, HFE, SLC11A2, SLC40A1
6fe3+4511.0TF, TFRC, MT-CYB, FTL, CYBRD1, SLC11A2
7protoporphyrin ix45 11 2413.0TF, TFRC, FTL, HP, FXN
8creatinine4511.0HAMP, BMP2, TF, TFRC, MT-CYB, HP
9heme29 11 2413.0TF, MT-CYB, HFE, CYBRD1, FXN
10ferric ammonium citrate4511.0TF, TFRC, FTL, FXN
11haem4511.0MT-CYB, HFE, FTL, SLC11A2
12fenton4511.0FXN, FTL, MT-CYB, TF
13cholesterol45 29 11 2413.9BMP2, TF, HFE, FTL, HP, SLC11A2
14chloroquine45 2 50 29 1114.9TF, TFRC, FTL, HP
15polyethylene glycol4510.9BMP2, TF, TFRC, HP
16iron dextran45 1111.9FTL, TFRC, TF
17zinc protoporphyrin4510.9HP, TFRC, TF
185-aminolevulinic acid45 2411.9TFRC, HFE, SLC11A2
19alanine4510.9HP, HFE, MT-CYB, TFRC, TF, BMP2
20citrate4510.9TF, TFRC, HP, SLC11A2
21aluminium citrate4510.9TFRC, TF
22folate4510.9TF, TFRC, FTL, HP
23ferrozine4510.9FTL, TF
24gallium4510.9TFRC, TF
25aspartate4510.9TF, TFRC, MT-CYB, HFE, HP
26deferiprone4510.8TFRC, TF
27aluminium45 1111.8TF, TFRC
28vitamin b124510.8HP, TFRC, TF
29bismuth45 2411.7TF, TFRC
30apotransferrin4510.7TF, TFRC
31succinate4510.7TF, MT-CYB, FXN
32n acetylcysteine4510.7SLC11A2, FXN, TFRC, TF
33tetracycline45 1111.7TFRC, TF, BMP2
34cysteine4510.6MR1, BMP2, TFRC, HFE, HP, FXN
35polysaccharide4510.6BMP2, TFRC, HP
36benzidine4510.5HP, TFRC
37glucose4510.5BMP2, MT-CYB, HFE, HP, FXN, SLC11A2
38succinylacetone4510.2TFRC, TF

GO Terms for genes affiliated with Hemochromatosis

Sources:
16Gene Ontology
See all sources

Cellular components related to Hemochromatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral to plasma membraneGO:00588710.6SLC40A1, SLC11A2, HFE, HLA-H, TFRC, TFR2
2basal part of cellGO:04517810.6SLC11A2, HFE, TF
3MHC class I protein complexGO:04261210.6MR1, HLA-H, HFE
4recycling endosomeGO:05503710.5SLC11A2, HFE, TF
5perinuclear region of cytoplasmGO:04847110.3HEPH, TF, TFRC, HFE, SLC11A2

Biological processes related to Hemochromatosis according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1cellular iron ion homeostasisGO:00687911.0SLC40A1, HEPH, HAMP, TF, TFR2, TFRC
2transmembrane transportGO:05508510.8HEPH, TF, TFRC, FTL, CYBRD1, SLC11A2
3multicellular organismal iron ion homeostasisGO:06058610.8HFE, SLC11A2, SLC40A1
4response to iron ionGO:01003910.7SLC11A2, FXN, CYBRD1
5iron ion transportGO:00682610.7HEPH, TFR2, FTL
6positive regulation of T cell mediated cytotoxicityGO:00191610.6HFE, HLA-H, MR1
7immune responseGO:00695510.6HFE, HLA-H, HAMP, MR1
8BMP signaling pathwayGO:03050910.5UBE2D1, BMP2, HFE2
9antigen processing and presentation of peptide antigen via MHC class IGO:00247410.5HFE, HLA-H, MR1
10copper ion transportGO:00682510.2HEPH, SLC11A2

Molecular functions related to Hemochromatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:00551510.8BMP2, PPP1R11, TF, TFRC, HFE, HFE2
2ferric iron bindingGO:00819910.5FXN, FTL, TF
3transferrin receptor activityGO:00499810.4TFRC, TFR2
4peptide antigen bindingGO:04260510.3MR1, HLA-H, HFE

Products for genes affiliated with Hemochromatosis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hemochromatosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet