HFE1
MCID: HMC003
MIFTS: 72

Hemochromatosis (HFE1) malady

Categories: Genetic diseases, Rare diseases, Liver diseases, Metabolic diseases

Aliases & Classifications for Hemochromatosis

Aliases & Descriptions for Hemochromatosis:

Name: Hemochromatosis 54 12 71 50 25 13 52 41 42 14 69
Hereditary Hemochromatosis 25 66 29 52 69
Hemochromatosis Type 1 12 50 66
Haemochromatosis 12 71 25
Symptomatic Form of Hfe-Related Hereditary Hemochromatosis 12 56
Symptomatic Form of Classic Hemochromatosis 12 56
Symptomatic Form of Hemochromatosis Type 1 12 56
Hemochromatosis, Type 1 54 69
Iron Storage Disorder 12 25
Hemochromatosis 1 66 29
Hfe1 12 66
Hlah 25 66
Hh 25 66
Von Recklenhausen-Applebaum Disease 25
Primary Hereditary Hemochromatosis 66
Troisier-Hanot-Chauffard Syndrome 25
Hfe Hemochromatosis, Modifier of 54
Hereditary Haemochromatosis 25
Familial Hemochromatosis 25
Classic Hemochromatosis 50
Hemochromatosis Classic 50
Genetic Hemochromatosis 25
Primary Hemochromatosis 25
Pigmentary Cirrhosis 25
Bronzed Cirrhosis 25
Bronze Cirrhosis 69
Diabetes Bronze 12
Bronze Diabetes 25
Hc 25

Characteristics:

HPO:

32
hemochromatosis:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 235200
Disease Ontology 12 DOID:0111029 DOID:2352
MeSH 42 D006432
NCIt 47 C84481
Orphanet 56 ORPHA465508
ICD10 via Orphanet 34 E83.1
MedGen 40 C0392514
UMLS 69 C0018995

Summaries for Hemochromatosis

OMIM : 54 Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess... (235200) more...

MalaCards based summary : Hemochromatosis, also known as hereditary hemochromatosis, is related to hemochromatosis, type 4 and hemochromatosis, type 3, and has symptoms including arthralgia, fatigue and vertigo. An important gene associated with Hemochromatosis is HFE (Hemochromatosis), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Insulin receptor recycling. The drugs Iron and Omeprazole have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and pancreas, and related phenotypes are hematopoietic system and homeostasis/metabolism

NIH Rare Diseases : 50 hemochromatosis is a condition in which too much iron builds up in the body (iron overload). accumulation of iron in the organs is toxic and can result in organ failure. while many organs can be affected, it may especially affect the liver, heart, and pancreas. symptoms of hemochromatosis tend to develop gradually and often don't appear until middle age or later. the condition may not be diagnosed until iron accumulation is excessive. early symptoms may be vague, such as fatigue or weakness. other symptoms or features may include joint pain, abdominal pain, loss of sex drive, arthritis, liver disease, diabetes, heart problems, and skin discoloration. hemochromatosis may be hereditary or acquired (secondary) due to another condition such as anemia, chronic liver disease, or an infection. there is also a neonatal form. hereditary hemochromatosis is classified by type based on age of onset, genetic cause and mode of inheritance:hemochromotosis type 1 hemochromatosis type 2 hemochromatosis type 3 hemochromatosis type 4 treatment usually involves removing blood (phlebotomy), which prevents additional organ damage but does not reverse existing damage. last updated: 1/11/2017

UniProtKB/Swiss-Prot : 66 Hemochromatosis 1: A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.

MedlinePlus : 41 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

Genetics Home Reference : 25 Hereditary 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, hereditary hemochromatosis is also called an iron overload disorder.

Disease Ontology : 12 A metal metabolism disorder characterized by the accumulation of iron in various organs of the body.

Related Diseases for Hemochromatosis

Diseases in the Hemochromatosis family:

Hemochromatosis, Type 2a Hemochromatosis, Type 4
Hemochromatosis, Type 3 Hemochromatosis, Type 5
Hemochromatosis, Type 2b Hemochromatosis Type 2
Juvenile Hereditary Hemochromatosis Tfr2-Related Hereditary Hemochromatosis
Slc40a1-Related Hereditary Hemochromatosis Hamp-Related Juvenile Hemochromatosis

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

(show top 50) (show all 245)
id Related Disease Score Top Affiliating Genes
1 hemochromatosis, type 4 12.4
2 hemochromatosis, type 3 12.4
3 hemochromatosis type 2 12.2
4 hemochromatosis, type 2a 12.2
5 hemochromatosis, neonatal 12.2
6 hemochromatosis, type 2b 12.1
7 hemochromatosis, type 5 12.1
8 juvenile hereditary hemochromatosis 12.0
9 tfr2-related hereditary hemochromatosis 12.0
10 hfe-associated hereditary hemochromatosis 11.9
11 slc40a1-related hereditary hemochromatosis 11.8
12 hamp-related juvenile hemochromatosis 11.7
13 hjv -related juvenile hemochromatosis 11.7
14 hypotrichosis 1 11.5
15 hajdu-cheney syndrome 11.5
16 iron overload in africa 11.5
17 tumoral calcinosis, hyperphosphatemic, familial 11.4
18 dyskeratosis congenita, x-linked 11.4
19 hypogonadotropic hypogonadism 7 without anosmia 11.3
20 heart-hand syndrome, slovenian type 11.3
21 hemicrania continua 11.2
22 porphyria cutanea tarda 11.1
23 liver disease 11.1
24 hepatocellular carcinoma 11.1
25 hypotonia-cystinuria syndrome 11.0
26 alzheimer disease 11.0
27 hypogonadotropic hypogonadism 2 with or without anosmia 10.9
28 hypothalamic hamartomas 10.9
29 iron metabolism disease 10.9
30 dyserythropoietic anemia, congenital, type ia 10.9
31 kallmann syndrome 10.8
32 dyskeratosis congenita, autosomal recessive 5 10.8
33 dyskeratosis congenita, autosomal dominant 1 10.8
34 hypotrichosis simplex 10.7
35 hyperinsulinism-hyperammonemia syndrome 10.7
36 chondrocalcinosis 2 10.7
37 dyserythropoietic anemia, congenital, type ib 10.7
38 hypogonadotropic hypogonadism 12 with or without anosmia 10.6
39 hypogonadotropic hypogonadism 5 with or without anosmia 10.6
40 hypogonadotropic hypogonadism 8 with or without anosmia 10.6
41 hypogonadotropic hypogonadism 15 with or without anosmia 10.6
42 hypogonadotropic hypogonadism 3 with or without anosmia 10.6
43 hypogonadotropic hypogonadism 11 with or without anosmia 10.6
44 hypogonadotropic hypogonadism 9 with or without anosmia 10.6
45 hypogonadotropic hypogonadism 21 with anosmia 10.6
46 hypogonadotropic hypogonadism 6 with or without anosmia 10.6
47 hypogonadotropic hypogonadism 14 with or without anosmia 10.6
48 hypogonadotropic hypogonadism 17 with or without anosmia 10.6
49 hypogonadotropic hypogonadism 4 with or without anosmia 10.6
50 hypogonadotropic hypogonadism 16 with or without anosmia 10.6

Graphical network of the top 20 diseases related to Hemochromatosis:



Diseases related to Hemochromatosis

Symptoms & Phenotypes for Hemochromatosis

Symptoms by clinical synopsis from OMIM:

235200

Clinical features from OMIM:

235200

Human phenotypes related to Hemochromatosis:

56 32 (show all 39)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 arthralgia 56 32 Frequent (79-30%) HP:0002829
2 fatigue 56 32 Very frequent (99-80%) HP:0012378
3 vertigo 56 32 Occasional (29-5%) HP:0002321
4 joint dislocation 56 32 Frequent (79-30%) HP:0001373
5 diabetes mellitus 56 32 Occasional (29-5%) HP:0000819
6 splenomegaly 56 32 Occasional (29-5%) HP:0001744
7 hepatomegaly 56 32 Frequent (79-30%) HP:0002240
8 retinopathy 56 32 Occasional (29-5%) HP:0000488
9 osteoporosis 56 32 Occasional (29-5%) HP:0000939
10 ascites 56 32 Occasional (29-5%) HP:0001541
11 peripheral neuropathy 56 32 Occasional (29-5%) HP:0009830
12 congestive heart failure 56 32 Occasional (29-5%) HP:0001635
13 limitation of joint mobility 56 32 Frequent (79-30%) HP:0001376
14 hepatic steatosis 56 32 Frequent (79-30%) HP:0001397
15 cirrhosis 56 32 Occasional (29-5%) HP:0001394
16 cardiomyopathy 56 32 Occasional (29-5%) HP:0001638
17 exocrine pancreatic insufficiency 56 32 Occasional (29-5%) HP:0001738
18 hypogonadism 56 32 Very frequent (99-80%) HP:0000135
19 cholestasis 56 32 Occasional (29-5%) HP:0001396
20 alopecia 56 32 Occasional (29-5%) HP:0001596
21 gynecomastia 56 32 Frequent (79-30%) HP:0000771
22 chondrocalcinosis 56 32 Frequent (79-30%) HP:0000934
23 impotence 56 32 Frequent (79-30%) HP:0000802
24 abnormality of the hypothalamus-pituitary axis 56 32 Frequent (79-30%) HP:0000864
25 increased serum ferritin 56 32 Very frequent (99-80%) HP:0003281
26 hyperpigmentation of the skin 56 32 Very frequent (99-80%) HP:0000953
27 hepatocellular carcinoma 56 32 Occasional (29-5%) HP:0001402
28 arthropathy 56 32 Frequent (79-30%) HP:0003040
29 cardiomegaly 32 HP:0001640
30 arrhythmia 32 HP:0011675
31 elevated hepatic transaminases 32 HP:0002910
32 hypogonadotrophic hypogonadism 32 HP:0000044
33 testicular atrophy 32 HP:0000029
34 azoospermia 32 HP:0000027
35 increased serum iron 32 HP:0003452
36 pleural effusion 32 HP:0002202
37 telangiectasia 32 HP:0001009
38 abnormal glucose tolerance 32 HP:0001952
39 amenorrhea 32 HP:0000141

UMLS symptoms related to Hemochromatosis:


abdominal pain, constipation, diarrhea, dyspepsia, heartburn, icterus, nausea and vomiting, gastrointestinal gas

MGI Mouse Phenotypes related to Hemochromatosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.03 CP HEPH HFE HFE2 MR1 SLC11A2
2 homeostasis/metabolism MP:0005376 10.03 ACO1 B2M BMP2 CP CYBRD1 FXN
3 cardiovascular system MP:0005385 10.02 HFE2 SLC11A2 SLC40A1 TFRC B2M BMP2
4 immune system MP:0005387 9.73 B2M BMP2 CP FXN HEPH HFE
5 liver/biliary system MP:0005370 9.36 B2M CP CYBRD1 HEPH HFE HFE2

Drugs & Therapeutics for Hemochromatosis

Drugs for Hemochromatosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 42)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 4,Phase 3,Phase 2,Phase 1 7439-89-6 23925
2
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
3
Deferasirox Approved, Investigational Phase 4,Phase 1,Phase 2 201530-41-8 5493381
4
Deferoxamine Approved, Investigational Phase 4,Phase 3,Phase 2 70-51-9 2973
5
Deferiprone Approved Phase 4,Phase 3,Phase 2,Phase 1 30652-11-0 2972
6 Antacids Phase 4
7 Anti-Ulcer Agents Phase 4
8 Gastrointestinal Agents Phase 4
9
Proton pump inhibitors Phase 4
10 Chelating Agents Phase 4,Phase 3,Phase 2,Phase 1
11 Iron Chelating Agents Phase 4,Phase 3,Phase 2,Phase 1
12 Liver Extracts Phase 4,Phase 2
13
Ethanol Approved Phase 3 64-17-5 702
14
Hydroxyurea Approved Phase 3 127-07-1 3657
15 Pharmaceutical Solutions Phase 2, Phase 3
16 Nucleic Acid Synthesis Inhibitors Phase 3
17
Cholecalciferol Approved, Nutraceutical Phase 2 67-97-0 6221 10883523 5280795
18
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
19 Micronutrients Phase 2,Phase 1
20 Trace Elements Phase 2,Phase 1
21 Hepcidins Phase 2
22 Calcium, Dietary Phase 2,Phase 1
23 Antirheumatic Agents Phase 2
24 Interleukin 1 Receptor Antagonist Protein Phase 2
25 Anti-Infective Agents Phase 2
26 Vaccines Phase 1, Phase 2
27 Bone Density Conservation Agents Phase 2
28 Ergocalciferols Phase 2
29 vitamin d Phase 2
30 Vitamins Phase 2
31 Calciferol Nutraceutical Phase 2
32 Vitamin D2 Nutraceutical Phase 2
33
Nifedipine Approved Phase 1 21829-25-4 4485
34 calcium channel blockers Phase 1
35 Tocolytic Agents Phase 1
36 Vasodilator Agents Phase 1
37
Pantoprazole Approved 102625-70-7 4679
38 Trichostatin A 58880-19-6
39 Hematinics
40
Bilirubin 635-65-4 5280352
41 Kava Nutraceutical 9000-38-8
42 Iron Supplement Nutraceutical

Interventional clinical trials:

(show top 50) (show all 51)
id Name Status NCT ID Phase
1 Evaluation of the Efficacy in Decreasing Iron Absorption in Patients With Congenital Dyserythropoietic Anemia Type I by Treatment With LOSEC Unknown status NCT01795794 Phase 4
2 Pilot Study for Patients With Poor Response to Deferasirox Completed NCT00749515 Phase 4
3 Efficacy Study of the Use of Sequential DFP-DFO Versus DFP Completed NCT00733811 Phase 4
4 Erythrocytapheresis Versus Phlebotomy as Maintenance Therapy in Hereditary Hemochromatosis (HH) Patients Unknown status NCT01398644 Phase 3
5 Haemochromatosis:Phlebotomy Versus Erythrocytapheresis Therapy Completed NCT00202436 Phase 3
6 Clinical Management of Hereditary Hemochromatosis: Phlebotomy vs. Erythrocytoapheresis Completed NCT00440986 Phase 2, Phase 3
7 Study With Deferiprone and/or Desferrioxamine in Iron Overloaded Patients Completed NCT00350662 Phase 3
8 Efficacy and Safety of the Iron Chelator Deferiprone in Parkinson's Disease Completed NCT00943748 Phase 2, Phase 3
9 Screening of Hepatocellular Carcinoma in Patients With Compensated Cirrhosis Completed NCT00190385 Phase 3
10 Stroke With Transfusions Changing to Hydroxyurea Terminated NCT00122980 Phase 3
11 Safety and Efficacy of Deferasirox (ICL670) in Patients With Iron Overload Resulting From Hereditary Hemochromatosis Completed NCT00395629 Phase 1, Phase 2
12 Study Using Deferiprone Alone or in Combination With Desferrioxamine in Iron Overloaded Transfusion-dependent Patients Completed NCT00349453 Phase 2
13 Evaluation of Subcutaneous Desferrioxamine as Treatment for Transfusional Hemochromatosis Completed NCT00000595 Phase 2
14 High-Tc Susceptometer to Monitor Transfusional Iron Overload Completed NCT01241357 Phase 2
15 Treatment of Refractory Hemochromatosis Rheumatism by Anakinra: a Preliminary Phase II Study Recruiting NCT02263638 Phase 2
16 Analysis of the Modulation of Serum Hepcidin Level in Response to Iron Oral Intake: Potential Interest for the Differential Diagnosis Between Ferroportin Disease and Dysmetabolic Hepatosiderosis. Recruiting NCT01949467 Phase 2
17 Trial of Therapeutic Vaccine in Patients With Cholangiocarcinoma Recruiting NCT03042182 Phase 1, Phase 2
18 The Deferasirox-calcium-vitamin D3 Therapy for Postmenopausal Osteoporosis (PMOP) Not yet recruiting NCT02854722 Phase 2
19 Treatment of Iron Overload With Deferasirox (Exjade) in Hereditary Hemochromatosis and Myelodysplastic Syndrome Terminated NCT01892644 Phase 2
20 Oral Nifedipine to Treat Iron Overload Completed NCT00712738 Phase 1
21 Implications for Quality of Life and Quality of Care in Patients With Hereditary Haemochromatosis Unknown status NCT01991925
22 Erythrocyte Apheresis Versus Phlebotomy in Hemochromatosis Unknown status NCT00509652
23 Proton Pump Inhibitors in the Prevention of Iron Reaccumulation in Patient With Hereditary Hemochromatosis Unknown status NCT01524757
24 Research Network for Neonatal Diseases Induced by Tissular Fetomaternal Alloimmunization Unknown status NCT00199628
25 HEPFER-Evaluation of a New Phenotypic Biological Marker in Genetic Type 1 Hemochromatosis Completed NCT01784939
26 Bone Status on Patients With Genetic Hemochromatosis: a 3 Years Descriptive and Evolutionary Study Completed NCT01556360
27 Respiratory Variations For Assessing Blood Withdrawal Completed NCT03066414
28 Deferoxamine for the Treatment of Hemochromatosis Completed NCT00001203
29 Hemochromatosis--Genetic Prevalence and Penetrance Completed NCT00006312
30 Statistical Basis for Hemochromatosis Screening Completed NCT00005559
31 Evaluation of a New MR Pulse Sequence to Quantify Liver Iron Concentration Completed NCT00587535
32 Hemochromatosis and Iron Overload Screening Study (HEIRS) Completed NCT00005541
33 Mi-iron - Moderately Increased Iron - is Reducing Iron Overload Necessary? Completed NCT01631708
34 Iron Overload in African Americans Completed NCT00001455
35 Impact of Host Iron Status and Iron Supplement Use on Erythrocytic Stage of Plasmodium Falciparum Completed NCT01027663
36 Risk Factors of Porphyria Cutanea Tarda (PCT) Completed NCT00213772
37 Study of the Pathogenesis of Porphyria Cutanea Tarda Completed NCT00005103
38 Iron Supplement Effect on Child Development Completed NCT02690675
39 Ischemia Modified Albumin (IMA) Expression in the Male and Female Population Completed NCT02894671
40 Iron Overload in Stem Cell Transplant Recipients Completed NCT00806715
41 Treatment of Hemochromatosis Recruiting NCT00007150
42 Estimation of Myocardial Iron Overload by 3 Tesla MRI in HFE Hereditary Haemochromatosis Recruiting NCT02099214
43 Impact of Bloodletting on Iron Metabolism in Type 1 Hemochromatosis Recruiting NCT01810965
44 Confounder-Corrected Quantitative MRI Biomarker of Hepatic Iron Content Recruiting NCT02025543
45 China Registry for Genetic / Metabolic Liver Diseases Recruiting NCT03131427
46 Evaluation of Patients With Liver Disease Recruiting NCT00001971
47 The Nor-Hand Study Recruiting NCT03083548
48 Massive Iron Deposit Assessment Recruiting NCT01572922
49 Liver Fibrosis in Sickle Cell Disease Recruiting NCT02007746
50 Cardiac Function in Patients With Hereditary Hemochromatosis Active, not recruiting NCT00068159

Search NIH Clinical Center for Hemochromatosis

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: hemochromatosis

Genetic Tests for Hemochromatosis

Genetic tests related to Hemochromatosis:

id Genetic test Affiliating Genes
1 Hemochromatosis Type 1 29
2 Hereditary Hemochromatosis 29

Anatomical Context for Hemochromatosis

MalaCards organs/tissues related to Hemochromatosis:

39
Liver, Heart, Pancreas, Skin, Testes, Lung, Bone

Publications for Hemochromatosis

Articles related to Hemochromatosis:

(show top 50) (show all 1310)
id Title Authors Year
1
The hemochromatosis protein HFE 20 years later: An emerging role in antigen presentation and in the immune system. ( 28474781 )
2017
2
Relevance of C5b9 immunostaining in the diagnosis of neonatal hemochromatosis. ( 28085791 )
2017
3
Properties of donated red blood cell components from patients with hereditary hemochromatosis. ( 27807848 )
2017
4
Iron related hemochromatosis (HFE) gene mutations in Friedreich Ataxia patients. ( 27814974 )
2017
5
Hereditary hemochromatosis arthropathy and Doppler ultrasound findings of synovitis. ( 28371912 )
2017
6
Diabetes mellitus caused by secondary hemochromatosis after multiple blood transfusions in 2 patients with severe aplastic anemia. ( 28443261 )
2017
7
Characterization of ferroptosis in murine models of hemochromatosis. ( 28195347 )
2017
8
Is DNA testing for hemochromatosis diagnosis reliable? ( 28092202 )
2017
9
Porphyria Cutanea Tarda as the Initial Manifestation of Subclinical Hereditary Hemochromatosis. ( 28479501 )
2017
10
GNPAT rs11558492 is not a Major Modifier of Iron Status: Study of Italian Hemochromatosis Patients and Blood Donors. ( 28425416 )
2017
11
Iron Overload in the Liver of 2 Children: Nonalcoholic Steatohepatitis and Juvenile Hemochromatosis. ( 28067690 )
2017
12
Levodopa Responsive Parkinsonism in Patients with Hemochromatosis: Case Presentation and Literature Review. ( 28424751 )
2017
13
Identification of hereditary hemochromatosis pedigrees and a novel SLC40A1 mutation in Chinese population. ( 28110135 )
2017
14
ASSESSMENT OF DRUSEN AND OTHER RETINAL DEGENERATIVE CHANGES IN PATIENTS WITH HEREDITARY HEMOCHROMATOSIS. ( 28291154 )
2017
15
Juvenile hemochromatosis and hepatocellular carcinoma in a patient with a novel mutation in the HJV gene. ( 28363629 )
2017
16
Secondary Hemochromatosis due to Chronic Oral Iron Supplementation. ( 28133557 )
2017
17
Worse Outcomes of Patients With HFE Hemochromatosis With Persistent Increases in Transferrin Saturation During Maintenance Therapy. ( 28111337 )
2017
18
Diabetes in HFE Hemochromatosis. ( 28331855 )
2017
19
Neonatal Hemochromatosis: Blitz Diagnosis Results in Favorable Outcome. ( 28161201 )
2017
20
Hemochromatosis, Erythrocytosis and the JAK2 p.V617F Mutation. ( 28439222 )
2017
21
A Case Study of Hemochromatosis and Conflicting Point Shear Wave Measurements in the Assessment of Liver Fibrosis. ( 28081023 )
2017
22
R2*-relaxometry of the pancreas in patients with human hemochromatosis protein associated hereditary hemochromatosis. ( 28267532 )
2017
23
Human Hemochromatosis Protein (HFE) Immunoperoxidase Stain Highlights Choriocarcinoma within Mixed Germ Cell Tumors. ( 27034532 )
2016
24
Molecular pathogenesis of hereditary hemochromatosis. ( 27031690 )
2016
25
The evolutionary adaptation of hemochromatosis associated mutations during the neolithic. ( 27348451 )
2016
26
Effect of Hereditary Hemochromatosis Gene (HFE) H63D and C282Y Mutations on Iron Overload in Sickle Cell Disease Patients. ( 27095682 )
2016
27
Movement Disorders Associated With Hemochromatosis. ( 27827297 )
2016
28
Management of human factors engineering-associated hemochromatosis: A 2015 update. ( 27004087 )
2016
29
Effect of the Hemochromatosis Mutations on Iron Overload among the Indian I^ Thalassemia Carriers. ( 27561698 )
2016
30
Proprotein convertase 7 rs236918 is associated with liver fibrosis in Italian patients with HFE-related Hemochromatosis. ( 26868056 )
2016
31
A GNPAT variant (D519G) is not associated with an elevated serum ferritin or iron removed by phlebotomy in patients referred for C282Y-linked hemochromatosis. ( 27740525 )
2016
32
Accepting hereditary hemochromatosis blood donors: ask not why, ask why not. ( 27933629 )
2016
33
Frequency of Hereditary Hemochromatosis (HFE) Gene Mutations in Egyptian Beta Thalassemia Patients and its Relation to Iron Overload. ( 27335591 )
2016
34
Hemochromatosis gene mutations may affect the survival of patients with myelodysplastic syndrome. ( 27077775 )
2016
35
An immunohistochemical study of placental syncytiotrophoblasts in neonatal hemochromatosis. ( 27871472 )
2016
36
Identification of novel mutations in HFE, HFE2, TfR2, and SLC40A1 genes in Chinese patients affected by hereditary hemochromatosis. ( 27896572 )
2016
37
Successful Treatment of Iron-Overload Cardiomyopathy in Hereditary Hemochromatosis With Deferoxamine and Deferiprone. ( 27789107 )
2016
38
Hereditary hemochromatosis: Dealing with iron overload. ( 27032055 )
2016
39
Structural basis of urea-induced unfolding: Unraveling the folding pathway of hemochromatosis factor E. ( 27339324 )
2016
40
Effect of pH on the Stability of Hemochromatosis Factor E: A Combined Spectroscopic and Molecular Dynamics Simulation Based Study. ( 27174123 )
2016
41
Secondary hemochromatosis as a result of acute transfusion-induced iron overload in a burn patient. ( 27574680 )
2016
42
Living Related Liver Transplantation in an Infant with Neonatal Hemochromatosis. ( 27437193 )
2016
43
Course of iron parameters in HFE-hemochromatosis patients during initial treatment with erythrocytapheresis compared to phlebotomy. ( 26878994 )
2016
44
PIEZO1 gene mutation in a Japanese family with hereditary high phosphatidylcholine hemolytic anemia and hemochromatosis-induced diabetes mellitus. ( 26971963 )
2016
45
Dental pigmentation and hemochromatosis: A case report. ( 27981269 )
2016
46
Severe Myocardial Dysfunction Reversed by Iron-Chelation Therapy in an Asian Patient with Hereditary Hemochromatosis. ( 27140717 )
2016
47
Blood removal therapy in hereditary hemochromatosis induces a stress response resulting in improved genome integrity. ( 27045387 )
2016
48
HAMP Gene Mutation Associated with Juvenile Hemochromatosis in Brazilian Patients. ( 27007796 )
2016
49
Increased Retinal Expression of the Pro-Angiogenic Receptor GPR91 via BMP6 in a Mouse Model of Juvenile Hemochromatosis. ( 27046124 )
2016
50
Neonatal hemochromatosis in monochorionic twins. ( 26836824 )
2016

Variations for Hemochromatosis

UniProtKB/Swiss-Prot genetic disease variations for Hemochromatosis:

66 (show all 12)
id Symbol AA change Variation ID SNP ID
1 HFE p.Ser65Cys VAR_004397 rs1800730
2 HFE p.Cys282Tyr VAR_004398 rs1800562
3 HFE p.Gln127His VAR_008113 rs28934595
4 HFE p.Arg330Met VAR_008114 rs111033558
5 HFE p.Gly93Arg VAR_008729 rs28934597
6 HFE p.Ile105Thr VAR_008730 rs28934596
7 HFE p.Gln283Pro VAR_037304 rs111033563
8 HFE p.Arg6Ser VAR_042506 rs149342416
9 HFE p.Gly43Asp VAR_042507
10 HFE p.Arg66Cys VAR_042508 rs747739169
11 HFE p.Arg224Gly VAR_042510
12 HFE p.Val295Ala VAR_042511 rs143175221

ClinVar genetic disease variations for Hemochromatosis:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 HFE NM_000410.3(HFE): c.314T> C (p.Ile105Thr) single nucleotide variant Pathogenic rs28934596 GRCh37 Chromosome 6, 26091306: 26091306
2 HFE NM_000410.3(HFE): c.277G> C (p.Gly93Arg) single nucleotide variant Pathogenic rs28934597 GRCh37 Chromosome 6, 26091269: 26091269
3 HFE NM_000410.3(HFE): c.381A> C (p.Gln127His) single nucleotide variant Pathogenic rs28934595 GRCh37 Chromosome 6, 26091582: 26091582
4 HFE NM_000410.3(HFE): c.989G> T (p.Arg330Met) single nucleotide variant Pathogenic rs111033558 GRCh37 Chromosome 6, 26093443: 26093443
5 HFE NM_000410.3(HFE): c.848A> C (p.Gln283Pro) single nucleotide variant Pathogenic rs111033563 GRCh37 Chromosome 6, 26093144: 26093144
6 HFE2 NM_213653.3(HFE2): c.959G> T (p.Gly320Val) single nucleotide variant Pathogenic rs74315323 GRCh37 Chromosome 1, 145416614: 145416614
7 HFE2 NM_213653.3(HFE2): c.963C> A (p.Cys321Ter) single nucleotide variant Pathogenic rs121434374 GRCh37 Chromosome 1, 145416618: 145416618
8 HAMP NM_021175.3(HAMP): c.212G> A (p.Gly71Asp) single nucleotide variant risk factor rs104894696 GRCh37 Chromosome 19, 35775902: 35775902
9 TFR2 NM_003227.3(TFR2): c.1364G> A (p.Arg455Gln) single nucleotide variant risk factor rs41303501 GRCh37 Chromosome 7, 100226902: 100226902
10 HFE NM_000410.3(HFE): c.502G> T (p.Glu168Ter) single nucleotide variant Pathogenic rs146519482 GRCh38 Chromosome 6, 26091475: 26091475
11 TFR2 NM_003227.3(TFR2): c.2033G> C (p.Arg678Pro) single nucleotide variant Likely pathogenic rs786204108 GRCh37 Chromosome 7, 100224489: 100224489
12 HAMP NM_021175.3(HAMP): c.216C> A (p.Cys72Ter) single nucleotide variant Pathogenic rs763369315 GRCh38 Chromosome 19, 35285003: 35285003
13 HFE NM_000410.3(HFE): c.506G> A (p.Trp169Ter) single nucleotide variant Pathogenic rs797045145 GRCh37 Chromosome 6, 26091707: 26091707
14 HFE NM_000410.3(HFE): c.892G> T (p.Glu298Ter) single nucleotide variant Pathogenic rs749553271 GRCh38 Chromosome 6, 26092960: 26092960
15 HFE NM_000410.3(HFE): c.546_547delCC (p.Leu183Glyfs) deletion Pathogenic rs765804978 GRCh38 Chromosome 6, 26091519: 26091520

Expression for Hemochromatosis

Search GEO for disease gene expression data for Hemochromatosis.

Pathways for Hemochromatosis

Pathways related to Hemochromatosis according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.14 CP CYBRD1 FTL HEPH SLC11A2 SLC40A1
2
Show member pathways
12.31 CP CYBRD1 FTL HEPH SLC11A2 SLC40A1
3
Show member pathways
12.21 CP FXN HEPH UROD
4
Show member pathways
11.65 CP HEPH SLC11A2 SLC40A1
5
Show member pathways
11.49 BMP2 HFE2 UBE2D1
6 11.42 CP TF TFRC
7 11.34 CYBRD1 FTL HEPH SLC11A2 SLC40A1 TF
8 11.03 CP FTL SLC11A2 SLC40A1 TF TFRC
9 10.34 HAMP HFE HFE2
10 10.25 ACO1 HAMP SLC11A2 SLC40A1 TF TFR2

GO Terms for Hemochromatosis

Cellular components related to Hemochromatosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 perinuclear region of cytoplasm GO:0048471 9.88 HEPH HFE SLC11A2 TF TFRC
2 cytoplasmic vesicle GO:0031410 9.85 HFE SLC11A2 TF TFR2 TFRC
3 external side of plasma membrane GO:0009897 9.73 B2M HFE TFR2 TFRC
4 cell surface GO:0009986 9.7 B2M BMP2 HFE2 HLA-B SLC11A2 TF
5 recycling endosome GO:0055037 9.67 HFE SLC11A2 TF TFRC
6 basal part of cell GO:0045178 9.43 HFE SLC11A2 TF
7 BMP receptor complex GO:0070724 9.32 BMP2 HFE2
8 MHC class I protein complex GO:0042612 9.26 B2M HFE HLA-B MR1
9 HFE-transferrin receptor complex GO:1990712 9.1 B2M HFE HFE2 TF TFR2 TFRC
10 extracellular space GO:0005615 10.01 B2M BMP2 CP HAMP HFE HFE2

Biological processes related to Hemochromatosis according to GeneCards Suite gene sharing:

(show all 30)
id Name GO ID Score Top Affiliating Genes
1 BMP signaling pathway GO:0030509 9.83 BMP2 HFE HFE2 UBE2D1
2 positive regulation of protein binding GO:0032092 9.8 B2M BMP2 HFE
3 antigen processing and presentation GO:0019882 9.79 HFE HLA-B MR1
4 acute-phase response GO:0006953 9.77 HAMP HFE TFR2
5 transferrin transport GO:0033572 9.73 HFE TF TFR2 TFRC
6 response to iron ion GO:0010039 9.73 CYBRD1 FXN HAMP HFE SLC11A2 TFR2
7 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.71 B2M HFE HLA-B MR1
8 heme biosynthetic process GO:0006783 9.67 FXN SLC11A2 UROD
9 multicellular organismal iron ion homeostasis GO:0060586 9.67 HAMP HFE SLC11A2 SLC40A1
10 protein autoprocessing GO:0016540 9.65 FXN HFE2
11 positive regulation of receptor-mediated endocytosis GO:0048260 9.65 B2M HFE TF
12 iron ion homeostasis GO:0055072 9.65 B2M FTL FXN HEPH HFE HFE2
13 porphyrin-containing compound biosynthetic process GO:0006779 9.64 SLC11A2 UROD
14 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent GO:0002480 9.64 B2M HLA-B
15 positive regulation of peptide hormone secretion GO:0090277 9.63 HFE TFR2
16 copper ion transport GO:0006825 9.63 CP HEPH SLC11A2
17 negative regulation of receptor binding GO:1900121 9.62 B2M HFE
18 iron ion transmembrane transport GO:0034755 9.62 SLC11A2 SLC40A1
19 cellular response to iron ion GO:0071281 9.62 B2M HFE TF TFR2
20 positive regulation of receptor binding GO:1900122 9.61 B2M HFE
21 response to iron ion starvation GO:1990641 9.59 HAMP HFE
22 positive regulation of ferrous iron import into cell GO:1903991 9.58 B2M HFE
23 positive regulation of ferrous iron binding GO:1904434 9.58 B2M HFE
24 positive regulation of ferrous iron import across plasma membrane GO:1904440 9.57 B2M HFE
25 positive regulation of transferrin receptor binding GO:1904437 9.56 B2M HFE
26 ferrous iron import into cell GO:0097460 9.55 TF TFR2
27 ferrous iron import across plasma membrane GO:0098707 9.54 TF TFR2
28 iron ion transport GO:0006826 9.17 B2M FTL HEPH SLC11A2 SLC40A1 TF
29 ion transport GO:0006811 10.05 CP FXN HEPH HFE SLC11A2 SLC40A1
30 cellular iron ion homeostasis GO:0006879 10 ACO1 CP CYBRD1 FTL FXN HAMP

Molecular functions related to Hemochromatosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 glycoprotein binding GO:0001948 9.62 B2M HFE2 TFR2 TFRC
2 ferrous iron binding GO:0008198 9.54 FXN HEPH TF
3 iron ion transmembrane transporter activity GO:0005381 9.46 SLC11A2 SLC40A1
4 ferrous iron transmembrane transporter activity GO:0015093 9.43 SLC11A2 SLC40A1
5 ferric iron binding GO:0008199 9.43 FTL FXN TF
6 transferrin receptor activity GO:0004998 9.4 TFR2 TFRC
7 co-receptor binding GO:0039706 9.33 BMP2 HFE TFR2
8 transferrin receptor binding GO:1990459 9.13 HFE HFE2 TF
9 ferroxidase activity GO:0004322 8.8 CP FXN HEPH
10 protein binding GO:0005515 10.41 ACO1 B2M BMP2 CYBRD1 FTL FXN

Sources for Hemochromatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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