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HFE1
MCID: HMC039
MIFTS: 74

Hemochromatosis, Type 1 (HFE1)

Categories: Cardiovascular diseases, Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Hemochromatosis, Type 1

About this section

MalaCards integrated aliases for Hemochromatosis, Type 1:

Name: Hemochromatosis, Type 1 58 41 74
Hemochromatosis 58 12 77 54 26 38 13 56 44 45 15 41 17 74 64
Hemochromatosis Type 1 12 77 25 54 76 30 6 15
Hereditary Hemochromatosis 77 26 76 30 56 6 74
Hh 58 26 76 17
Hfe1 58 12 76
Symptomatic Form of Hfe-Related Hereditary Hemochromatosis 12 60
Symptomatic Form of Classic Hemochromatosis 12 60
Symptomatic Form of Hemochromatosis Type 1 12 60
Hemochromatosis, Hereditary 58 77
Iron Storage Disorder 12 26
Haemochromatosis 12 26
Hlah 26 76
Hfe-Associated Hereditary Hemochromatosis 54
Von Recklenhausen-Applebaum Disease 26
Primary Hereditary Hemochromatosis 76
Troisier-Hanot-Chauffard Syndrome 26
Hfe Hemochromatosis, Modifier of 58
Hemochromatosis, Hereditary; Hh 58
Hfe-Associated Hemochromatosis 25
Hereditary Haemochromatosis 26
Familial Hemochromatosis 26
Classic Hemochromatosis 54
Hemochromatosis Classic 54
Genetic Hemochromatosis 26
Primary Hemochromatosis 26
Hemochromatosis; Hfe 58
Pigmentary Cirrhosis 26
Hfe Hemochromatosis 25
Bronzed Cirrhosis 26
Hemochromatosis 1 76
Bronze Cirrhosis 74
Diabetes Bronze 12
Bronze Diabetes 26
Hfe-Hh 25
Hfe 58
Hc 26

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
affects between 1 in 200 to 1 in 400 individuals of northern european descent


HPO:

33
hemochromatosis, type 1:
Inheritance autosomal recessive inheritance


GeneReviews:

25
Penetrance Penetrance of hfe hemochromatosis refers to the percentage of adults (men and women separately) homozygous or compound heterozygous for hfe pathogenic variants who exhibit either clinical or biochemical hemochromatosis:...

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Liver diseases Skin diseases Cardiovascular diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 34 35
Orphanet: 60  
Rare hepatic diseases
Inborn errors of metabolism


Sources

Summaries for Hemochromatosis, Type 1

About this section
NIH Rare Diseases : 54 Hemochromatosis is a disease in which too much iron builds up in the body. This is also called iron overload. Accumulation of iron in the organs is toxic and can cause organ damage. While many organs can be affected, iron overload is especially likely to affect the liver, heart, and pancreas. Early symptoms of hemochromatosis can include fatigue, weakness, and joint pain. Other symptoms may include abdominal pain, loss of sex drive, liver disease, diabetes, heart problems, and skin discoloration. Symptoms of hemochromatosis typically begin between the ages of 40-60 years-old, but in some cases children may have symptoms of the disease. Hemochromatosis may be hereditary, meaning it is caused by genetic changes (mutations or pathogenic variants) to any of several genes including FTH1, HAMP, HFE, HFE2 (also known as HJV), SLC40A1, and TFR2.  Hereditary hemochromatosis is classified by type based on age of onset, genetic cause, and mode of inheritance:Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 Hemochromatosis type 4 Hemochromatosis type 5 In other cases, hemochromatosis develops as a side-effect or symptom of another disease such as anemia, chronic liver disease, or an infection. This is called acquired hemochromatosis. When hemochromatosis develops in an infant and the exact cause of the disease cannot be determined, it is called neonatal hemochromatosis. A diagnosis of hemochromatosis is suspected when a doctor observes signs and symptoms of the disease. A doctor may decide to order laboratory tests including a liver biopsy, MRI, or blood test. The diagnosis can be confirmed with genetic testing. Treatment of hemochromatosis usually involves reducing iron levels by removing blood (phlebotomy) or iron chelation. These treatments can prevent additional organ damage but typically do not reverse existing damage.

MalaCards based summary : Hemochromatosis, Type 1, also known as hemochromatosis, is related to hemochromatosis, type 2a and iron overload in africa, and has symptoms including nausea and vomiting, constipation and abdominal pain. An important gene associated with Hemochromatosis, Type 1 is HFE (Homeostatic Iron Regulator), 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 Omeprazole and Iron have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and pancreas, and related phenotypes are fatigue and hypogonadism

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

Genetics Home Reference : 26 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.

OMIM : 58 Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron (summary by Feder et al., 1996). 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. Removal of excess iron by therapeutic phlebotomy decreases morbidity and mortality if instituted early in the course of the disease. Classic hemochromatosis (HFE) is most often caused by mutation in a gene designated HFE on chromosome 6p21.3. Adams and Barton (2007) reviewed the clinical features, pathophysiology, and management of hemochromatosis. (235200)

MedlinePlus : 44 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

UniProtKB/Swiss-Prot : 76 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.

PubMed Health : 64 About hemochromatosis: Hemochromatosis (HE-mo-kro-ma-TO-sis) is a disease in which too much iron builds up in your body (iron overload). Iron is a mineral found in many foods.Too much iron is toxic to your body. It can poison your organs and cause organ failure. In hemochromatosis, iron can build up in most of your body's organs, but especially in the liver, heart, and pancreas.Too much iron in the liver can cause an enlarged liver, liver failure, liver cancer, or cirrhosis (sir-RO-sis). Cirrhosis is scarring of the liver, which causes the organ to not work well.Too much iron in the heart can cause irregular heartbeats called arrhythmias (ah-RITH-me-ahs) and heart failure. Too much iron in the pancreas can lead to diabetes.If hemochromatosis isn't treated, it may even cause death.

Wikipedia : 77 Iron overload (also known as haemochromatosis or hemochromatosis) indicates accumulation of iron in the... more...

GeneReviews: NBK1440
Sources

Related Diseases for Hemochromatosis, Type 1

About this section

Diseases in the Juvenile Hereditary Hemochromatosis family:

Hemochromatosis, Type 1 Hemochromatosis, Type 2a
Hemochromatosis, Type 3 Hemochromatosis, Type 4
Hemochromatosis, Type 2b Hemochromatosis, Type 5
Hemochromatosis Type 2 Tfr2-Related Hereditary Hemochromatosis

Diseases related to Hemochromatosis, Type 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 445)
# Related Disease Score Top Affiliating Genes
1 hemochromatosis, type 2a 34.5 HAMP HJV
2 iron overload in africa 33.0 HAMP HEPH HFE SLC40A1 TF TFR2
3 hemoglobinopathy 32.2 HAMP HFE TF
4 hemochromatosis, type 3 32.1 HAMP HFE HJV SLC40A1 TFR2
5 rhizomelic chondrodysplasia punctata, type 2 32.0 HAMP HFE UROD
6 hemochromatosis, type 4 32.0 HAMP HFE HJV SLC40A1 TF TFR2
7 hemochromatosis type 2 32.0 HAMP HFE HJV SLC40A1 TF TFR2
8 atrial standstill 1 31.6 FXN HFE HJV
9 iron metabolism disease 31.6 CP CYBRD1 HFE HJV IREB2 SLC11A2
10 metal metabolism disorder 31.3 CP HAMP HFE HJV SLC11A2 SLC40A1
11 porphyria 31.1 HFE TF UROD
12 atransferrinemia 31.0 CP FXN HAMP HEPH HFE HJV
13 porphyria cutanea tarda 30.8 HAMP HFE TF TFRC UROD
14 thalassemia 30.8 HFE TF TFRC
15 siderosis 30.7 HFE SLC40A1 TF TFRC UROD
16 beta-thalassemia 30.6 HFE TF TFR2 TFRC
17 porphyria cutanea tarda, type i 30.6 HFE UROD
18 friedreich ataxia 1 30.4 ACO1 FXN TFRC
19 wilson disease 30.3 CP HFE TF
20 hyperferritinemia with or without cataract 30.3 FTL HFE TF
21 familial porphyria cutanea tarda 30.0 HFE UROD
22 hemosiderosis 30.0 CP FTL HAMP HFE SLC11A2 SLC40A1
23 anemia, sideroblastic, 1 30.0 ACO1 HAMP TFRC
24 inherited metabolic disorder 29.8 HAMP HFE HJV TF TFR2
25 microcytic anemia 29.8 ACO1 IREB2 SLC11A2 TF TFRC
26 iron deficiency anemia 29.7 HAMP HFE HJV SLC11A2 SLC40A1 TF
27 aceruloplasminemia 29.4 CP FTL FXN HAMP HEPH HFE
28 deficiency anemia 29.3 CP FTL HAMP HEPH HFE HJV
29 hemochromatosis, type 2b 12.5
30 tfr2-related hereditary hemochromatosis 12.2
31 hypotrichosis 1 11.9
32 tumoral calcinosis, hyperphosphatemic, familial, 1 11.8
33 hajdu-cheney syndrome 11.8
34 dyskeratosis congenita, x-linked 11.6
35 hypotonia-cystinuria syndrome 11.6
36 hypogonadotropic hypogonadism 7 with or without anosmia 11.6
37 heart-hand syndrome, slovenian type 11.6
38 hemicrania continua 11.5
39 holocarboxylase synthetase deficiency 11.5
40 hepatocellular carcinoma 11.4
41 cryptogenic cirrhosis 11.4
42 hemophilic arthropathy 11.3
43 porphyria variegata 11.3
44 transferrin serum level quantitative trait locus 2 11.2
45 hypothalamic hamartomas 11.2
46 charge syndrome 11.2
47 anemia, congenital dyserythropoietic, type ia 11.1
48 juvenile hereditary hemochromatosis 11.1
49 hemochromatosis, neonatal 11.1
50 hemochromatosis, type 5 11.1

Graphical network of the top 20 diseases related to Hemochromatosis, Type 1:



Diseases related to Hemochromatosis, Type 1
Sources

Symptoms & Phenotypes for Hemochromatosis, Type 1

About this section

Human phenotypes related to Hemochromatosis, Type 1:

60 33 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 60 33 hallmark (90%) Very frequent (99-80%) HP:0012378
2 hypogonadism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000135
3 increased serum ferritin 60 33 hallmark (90%) Very frequent (99-80%) HP:0003281
4 hyperpigmentation of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000953
5 joint dislocation 60 33 frequent (33%) Frequent (79-30%) HP:0001373
6 hepatomegaly 60 33 frequent (33%) Frequent (79-30%) HP:0002240
7 arthralgia 60 33 frequent (33%) Frequent (79-30%) HP:0002829
8 limitation of joint mobility 60 33 frequent (33%) Frequent (79-30%) HP:0001376
9 hepatic steatosis 60 33 frequent (33%) Frequent (79-30%) HP:0001397
10 gynecomastia 60 33 frequent (33%) Frequent (79-30%) HP:0000771
11 chondrocalcinosis 60 33 frequent (33%) Frequent (79-30%) HP:0000934
12 impotence 60 33 frequent (33%) Frequent (79-30%) HP:0000802
13 abnormality of the hypothalamus-pituitary axis 60 33 frequent (33%) Frequent (79-30%) HP:0000864
14 arthropathy 60 33 frequent (33%) Frequent (79-30%) HP:0003040
15 diabetes mellitus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000819
16 splenomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001744
17 retinopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000488
18 osteoporosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000939
19 ascites 60 33 occasional (7.5%) Occasional (29-5%) HP:0001541
20 peripheral neuropathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0009830
21 congestive heart failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0001635
22 alopecia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001596
23 cirrhosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001394
24 cardiomyopathy 60 33 occasional (7.5%) Occasional (29-5%) HP:0001638
25 exocrine pancreatic insufficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0001738
26 vertigo 60 33 occasional (7.5%) Occasional (29-5%) HP:0002321
27 cholestasis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001396
28 hepatocellular carcinoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0001402
29 cardiomegaly 33 HP:0001640
30 arrhythmia 33 HP:0011675
31 abdominal pain 33 HP:0002027
32 glucose intolerance 33 HP:0001952
33 hypogonadotrophic hypogonadism 33 HP:0000044
34 testicular atrophy 33 HP:0000029
35 azoospermia 33 HP:0000027
36 increased serum iron 33 HP:0003452
37 pleural effusion 33 HP:0002202
38 amenorrhea 33 HP:0000141
39 telangiectasia 33 HP:0001009
40 elevated hepatic transaminase 33 HP:0002910

Symptoms via clinical synopsis from OMIM:

58
Endocrine Features:
diabetes mellitus
abnormal glucose tolerance
hypogonadotropic hypogonadism

Abdomen Liver:
hepatomegaly
cirrhosis
hepatocellular carcinoma

Cardiovascular Heart:
cardiomegaly
arrhythmia
congestive heart failure
cardiomyopathy

Skin Nails Hair Hair:
alopecia

Laboratory Abnormalities:
increased serum ferritin
increased serum iron
increased transaminases
increased transferrin saturation (>60%)
increased hepatic parenchymal cell stainable iron

Genitourinary Internal Genitalia Female:
amenorrhea

Abdomen Spleen:
splenomegaly

Skeletal:
osteoporosis
arthropathy

Abdomen:
ascites
abdominal pain

Genitourinary External Genitalia Male:
testicular atrophy
azoospermia
impotence

Respiratory Lung:
pleural effusion

Skin Nails Hair Skin:
hyperpigmentation
telangiectases

Clinical features from OMIM:

235200

UMLS symptoms related to Hemochromatosis, Type 1:


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

GenomeRNAi Phenotypes related to Hemochromatosis, Type 1 according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ACO1 B2M BMP2 CP CYBRD1 FTL

MGI Mouse Phenotypes related to Hemochromatosis, Type 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.27 ACO1 B2M BMP2 CP CYBRD1 FXN
2 hematopoietic system MP:0005397 10.22 B2M BMP2 CP HEPH HFE HJV
3 cardiovascular system MP:0005385 10.2 B2M BMP2 CP CYBRD1 FXN HEPH
4 immune system MP:0005387 10.13 B2M BMP2 CP FXN HEPH HFE
5 liver/biliary system MP:0005370 10.03 B2M CP CYBRD1 HEPH HFE HJV
6 digestive/alimentary MP:0005381 9.98 B2M BMP2 HEPH HFE IREB2 SLC40A1
7 mortality/aging MP:0010768 9.93 ACO1 B2M BMP2 FXN HFE HJV
8 nervous system MP:0003631 9.65 B2M BMP2 CP FXN HEPH HFE
9 normal MP:0002873 9.23 ACO1 BMP2 HEPH HFE HJV IREB2
Sources

Drugs & Therapeutics for Hemochromatosis, Type 1

About this section

PubMedHealth treatment related to Hemochromatosis, Type 1: 64

Treatments for hemochromatosis include therapeutic phlebotomy (fleh-BOT-o-me), iron chelation (ke-LAY-shun) therapy, dietary changes, and treatment for complications.The goals of treating hemochromatosis include:Reducing the amount of iron in your body to normal levelsPreventing or delaying organ damage from iron overloadTreating complications of the diseaseMaintaining a normal amount of iron in your body for the rest of your life

Drugs for Hemochromatosis, Type 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 55)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
2
Iron Approved, Experimental Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 7439-89-6, 15438-31-0 23925 27284
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 Anti-Ulcer Agents Phase 4,Not Applicable
7 Antacids Phase 4,Not Applicable
8 Gastrointestinal Agents Phase 4,Not Applicable
9 Proton Pump Inhibitors Phase 4,Not Applicable
10 Siderophores Phase 4,Phase 3,Phase 2
11 Liver Extracts Phase 4,Not Applicable
12 Chelating Agents Phase 4,Phase 3,Phase 2,Phase 1
13 Iron Chelating Agents Phase 4,Phase 3,Phase 2,Phase 1
14
Ethanol Approved Phase 3 64-17-5 702
15
Hydroxyurea Approved Phase 3 127-07-1 3657
16 Pharmaceutical Solutions Phase 2, Phase 3
17 Nucleic Acid Synthesis Inhibitors Phase 3
18
Calcium Approved, Nutraceutical Phase 2,Phase 1 7440-70-2 271
19
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
20
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 5280795 6221
21
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
22 Trace Elements Phase 2,Phase 1,Not Applicable
23 Anti-Infective Agents Phase 2
24 Hepcidins Phase 2
25 Nutrients Phase 2,Phase 1,Not Applicable
26 Micronutrients Phase 2,Phase 1,Not Applicable
27 Calcium, Dietary Phase 2,Phase 1
28 Hormones Phase 2,Phase 1
29 Immunologic Factors Phase 1, Phase 2
30 Vitamins Phase 2
31 Bone Density Conservation Agents Phase 2
32 Calciferol Phase 2
33 Ergocalciferols Phase 2
34 Vitamin D2 Phase 2
35 Vaccines Phase 1, Phase 2
36 Antirheumatic Agents Phase 2
37 Interleukin 1 Receptor Antagonist Protein Phase 2
38
Nifedipine Approved Phase 1 21829-25-4 4485
39 calcium channel blockers Phase 1
40 Vasodilator Agents Phase 1
41 Tocolytic Agents Phase 1
42
Pantoprazole Approved Not Applicable 102625-70-7 4679
43
Tacrolimus Approved, Investigational 104987-11-3 445643 439492 6473866
44
Zinc Approved, Investigational 7440-66-6 32051
45 Kava Approved, Investigational, Nutraceutical 9000-38-8
46 Trichostatin A
47 Hematinics
48 Immunosuppressive Agents
49 Calcineurin Inhibitors
50 Iron Supplement Not Applicable

Interventional clinical trials:

(show top 50) (show all 61)
# Name Status NCT ID Phase Drugs
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 omeprazole
2 Pilot Study for Patients With Poor Response to Deferasirox Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
3 Efficacy Study of the Use of Sequential DFP-DFO Versus DFP Completed NCT00733811 Phase 4 Deferiprone (DFP) and Deferoxamine (DFO);Deferiprone (DFP)
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 Deferiprone (L1);Desferrioxamine
8 Efficacy and Safety of the Iron Chelator Deferiprone in Parkinson's Disease Completed NCT00943748 Phase 2, Phase 3 deferiprone;placebo
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 Hydroxyurea
11 Safety and Efficacy of Deferasirox (ICL670) in Patients With Iron Overload Resulting From Hereditary Hemochromatosis Completed NCT00395629 Phase 1, Phase 2 Deferasirox (ICL670)
12 Study Using Deferiprone Alone or in Combination With Desferrioxamine in Iron Overloaded Transfusion-dependent Patients Completed NCT00349453 Phase 2 Deferiprone (L1);Deferiprone (L1);Desferrioxamine
13 Evaluation of Subcutaneous Desferrioxamine as Treatment for Transfusional Hemochromatosis Completed NCT00000595 Phase 2 deferoxamine
14 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. Completed NCT01949467 Phase 2 iron fumarate
15 A Two-year Study to Evaluate the Efficacy and Safety of Deferasirox Film-coated Tablet Versus Phlebotomy in Patients With Hereditary Hemochromatosis. Recruiting NCT03203850 Phase 2 Deferasirox FCT
16 A Study of LJPC-401 for the Treatment of Iron Overload in Adult Patients With Hereditary Hemochromatosis Recruiting NCT03395704 Phase 2 LJPC-401;Placebo
17 The Deferasirox-calcium-vitamin D3 Therapy for Postmenopausal Osteoporosis (PMOP) Recruiting NCT02854722 Phase 2 Deferasirox and calcium-vitamin D3;Calcium-vitamin D3
18 Trial of Therapeutic Vaccine in Patients With Cholangiocarcinoma Recruiting NCT03042182 Phase 1, Phase 2
19 Treatment of Refractory Hemochromatosis Rheumatism by Anakinra: a Preliminary Phase II Study Terminated NCT02263638 Phase 2 Anakinra
20 Treatment of Iron Overload With Deferasirox (Exjade) in Hereditary Hemochromatosis and Myelodysplastic Syndrome Terminated NCT01892644 Phase 2 Deferasirox;Deferasirox
21 Oral Nifedipine to Treat Iron Overload Completed NCT00712738 Phase 1 Nifedipine
22 Implications for Quality of Life and Quality of Care in Patients With Hereditary Haemochromatosis Unknown status NCT01991925
23 Erythrocyte Apheresis Versus Phlebotomy in Hemochromatosis Unknown status NCT00509652 Not Applicable
24 Proton Pump Inhibitors in the Prevention of Iron Reaccumulation in Patient With Hereditary Hemochromatosis Unknown status NCT01524757 Not Applicable Pantoprazole
25 Estimation of Myocardial Iron Overload by 3 Tesla MRI in HFE Hereditary Haemochromatosis Completed NCT02099214 Not Applicable
26 HEPFER-Evaluation of a New Phenotypic Biological Marker in Genetic Type 1 Hemochromatosis Completed NCT01784939
27 Bone Status on Patients With Genetic Hemochromatosis: a 3 Years Descriptive and Evolutionary Study Completed NCT01556360
28 Respiratory Variations For Assessing Blood Withdrawal Completed NCT03066414
29 Deferoxamine for the Treatment of Hemochromatosis Completed NCT00001203
30 Evaluation of a New MR Pulse Sequence to Quantify Liver Iron Concentration Completed NCT00587535
31 Hemochromatosis--Genetic Prevalence and Penetrance Completed NCT00006312
32 Statistical Basis for Hemochromatosis Screening Completed NCT00005559
33 Study of the Cellular Diffusion of Tacrolimus Across the Membrane of Mononuclear Cells Completed NCT03654794
34 Hemochromatosis and Iron Overload Screening Study (HEIRS) Completed NCT00005541
35 Mi-iron - Moderately Increased Iron - is Reducing Iron Overload Necessary? Completed NCT01631708 Not Applicable
36 Effects of Polyphenols on Iron Absorption in Iron Overload Disorders. Completed NCT03453918 Not Applicable
37 Iron Overload in African Americans Completed NCT00001455
38 Impact of Host Iron Status and Iron Supplement Use on Erythrocytic Stage of Plasmodium Falciparum Completed NCT01027663 Not Applicable
39 Research Network for Neonatal Diseases Induced by Tissular Fetomaternal Alloimmunization Completed NCT00199628
40 Study of the Pathogenesis of Porphyria Cutanea Tarda Completed NCT00005103
41 High-Tc Susceptometer to Monitor Transfusional Iron Overload Completed NCT01241357
42 Risk Factors of Porphyria Cutanea Tarda (PCT) Completed NCT00213772
43 Massive Iron Deposit Assessment Completed NCT01572922 Not Applicable
44 Ischemia Modified Albumin (IMA) Expression in the Male and Female Population Completed NCT02894671
45 Iron Overload in Stem Cell Transplant Recipients Completed NCT00806715
46 Routine vs Selective Cardiac Magnetic Resonance in Non-Ischemic Heart Failure Completed NCT01281384 Not Applicable
47 Treatment of Hemochromatosis Recruiting NCT00007150
48 Impact of Bloodletting on Iron Metabolism in Type 1 Hemochromatosis Recruiting NCT01810965 Not Applicable
49 Transferrin Saturation and Asthenia in Hemochromatosis Recruiting NCT03356548
50 World Mosquito Program Noumea - Human Sample Component Recruiting NCT03552094

Search NIH Clinical Center for Hemochromatosis, Type 1

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: hemochromatosis

Sources

Genetic Tests for Hemochromatosis, Type 1

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Genetic tests related to Hemochromatosis, Type 1:

# Genetic test Affiliating Genes
1 Hemochromatosis Type 1 30 BMP2 HFE
2 Hereditary Hemochromatosis 30
Sources

Anatomical Context for Hemochromatosis, Type 1

About this section

MalaCards organs/tissues related to Hemochromatosis, Type 1:

42
Liver, Heart, Pancreas, Testes, Skin, Bone, Pituitary
Sources

Publications for Hemochromatosis, Type 1

About this section

Articles related to Hemochromatosis, Type 1:

(show top 50) (show all 1457)
# Title Authors Year
1
New thiazolidinones reduce iron overload in mouse models of hereditary hemochromatosis and β-thalassemia. ( 30792208 )
2019
2
Was the Last Ice Age dusty climate instrumental in spreading of the three "Celtic" diseases (hemochromatosis, cystic fibrosis and palmar fibromatosis)? ( 30593397 )
2019
3
A case of Niemann-Pick disease type C with neonatal liver failure initially diagnosed as neonatal hemochromatosis. ( 30737051 )
2019
4
Variable expressivity of HJV related hemochromatosis: "Juvenile" hemochromatosis? ( 30389309 )
2019
5
Juvenile hemochromatosis with multi-organ involvement diagnosed at autopsy. ( 30583831 )
2019
6
Hereditary Hemochromatosis Associations with Frailty, Sarcopenia and Chronic Pain: Evidence from 200,975 Older UK Biobank Participants. ( 30657865 )
2019
7
Oral Gavage of Ginger Nanoparticle-Derived Lipid Vectors Carrying Dmt1 siRNA Blunts Iron Loading in Murine Hereditary Hemochromatosis. ( 30713087 )
2019
8
μXRF and LA-ICP-TQMS for quantitative bioimaging of iron in organ samples of a hemochromatosis model. ( 30732878 )
2019
9
Cardiac iron overload following liver transplantation in patients without hereditary hemochromatosis or severe hepatic iron deposition. ( 30763826 )
2019
10
Effect of procyanidin on dietary iron absorption in hereditary hemochromatosis and in dysmetabolic iron overload syndrome: A crossover double-blind randomized controlled trial. ( 30792142 )
2019
11
Hemochromatosis: Hereditary hemochromatosis and HFE gene. ( 30798813 )
2019
12
Comprehensive analysis of HFE gene in hereditary hemochromatosis and in diseases associated with acquired iron overload. ( 30820268 )
2019
13
Influence of hereditary hemochromatosis on left ventricular wall thickness: does iron overload exacerbate cardiac hypertrophy? ( 30835340 )
2019
14
Coexistent Alpha-1 Antitrypsin Deficiency and Hereditary Hemochromatosis. ( 29991100 )
2018
15
Severe hemochromatosis arthropathy in the absence of iron overload. ( 30562413 )
2018
16
Hepatocellular Carcinoma Arising in a Non-cirrhotic Liver with Secondary Hemochromatosis. ( 30449774 )
2018
17
Higher age at diagnosis of hemochromatosis is the strongest predictor of the occurrence of hepatocellular carcinoma in the Swiss hemochromatosis cohort: A prospective longitudinal observational study. ( 30335010 )
2018
18
Hemochromatosis associated with cholelithiasis as a cause of hydrops fetalis and stillbirth: Prenatal diagnosis. ( 30378124 )
2018
19
HFE hemochromatosis screening in patients with severe hip osteoarthritis: A prospective cross-sectional study. ( 30427934 )
2018
20
Hepato-cerebral hereditary hemochromatosis in a patient with restless legs syndrome. ( 30591276 )
2018
21
Progressive splenomegaly and mild thrombocytosis in beta-thalassaemia trait and coexisting hereditary hemochromatosis: possible confounders for a subsequent hematological diagnosis. ( 30218421 )
2018
22
A Rare Case Of a 2 year old Boy With Alagille Syndrome & Type 3 Hereditary Hemochromatosis With TFR2 Mutation. ( 29985876 )
2018
23
Insulin Resistance and Metabolic Syndrome: Clinical and Laboratory Associations in African Americans Without Diabetes in the Hemochromatosis and Iron Overload Screening Study. ( 29851359 )
2018
24
Magnetic Resonance Imaging Findings in Neonatal Hemochromatosis. ( 29287003 )
2018
25
The Japanese experience and pharmacokinetics of antenatal maternal high-dose immunoglobulin treatment as a prophylaxis for neonatal hemochromatosis in siblings. ( 29890876 )
2018
26
Broadening the spectrum of neonatal hemochromatosis. ( 30058407 )
2018
27
Biochemical profile in an infant with neonatal hemochromatosis shows evidence of impairment of mitochondrial long-chain fatty acid oxidation. ( 30149691 )
2018
28
Heterogeneous Presentation of Neonatal Hemochromatosis in Dichorionic Twins. ( 30464860 )
2018
29
The mechanisms of systemic iron homeostasis and etiology, diagnosis, and treatment of hereditary hemochromatosis. ( 29134618 )
2018
30
Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis. ( 29154924 )
2018
31
Quality of life scores differs between genotypic groups of patients with suspected hereditary hemochromatosis. ( 29301508 )
2018
32
Reversal of end-stage heart failure in juvenile hemochromatosis with iron chelation therapy: a case report. ( 29373985 )
2018
33
Identification of Genes for Hereditary Hemochromatosis. ( 29423808 )
2018
34
Do pregnancies reduce iron overload in HFE hemochromatosis women? results from an observational prospective study. ( 29454332 )
2018
35
Gastroscopy findings in a patient with signet ring cell carcinoma and late‑onset hereditary hemochromatosis. ( 29511150 )
2018
36
Primary Hemochromatosis Presenting as Type 2 Diabetes Mellitus: A Case Report with Review of Literature. ( 29552540 )
2018
37
Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype. ( 29589198 )
2018
38
Iron storage disease (hemochromatosis) and hepcidin response to iron load in two species of pteropodid fruit bats relative to the common vampire bat. ( 29594459 )
2018
39
About genetic diagnosis of hereditary hemochromatosis. ( 29623879 )
2018
40
Phenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease. ( 29743178 )
2018
41
Should we use proton pump inhibitors as an add-on treatment in hereditary hemochromatosis? ( 29749343 )
2018
42
Hemochromatosis: Evaluation of the dietary iron model and regulation of hepcidin. ( 29752985 )
2018
43
A severe hemojuvelin mutation leading to late onset of HFE2-hemochromatosis. ( 29764732 )
2018
44
Management of cardiac hemochromatosis. ( 29765443 )
2018
45
Cardiac Hemochromatosis Treated With Prolonged Extracorporeal Membrane Oxygenation Support and Chelation Therapy. ( 29878536 )
2018
46
Small Molecule Inhibitors of NFkB Reverse Iron Overload and Hepcidin Deregulation in a Zebrafish Model for Hereditary Hemochromatosis Type 3. ( 29897731 )
2018
47
Hemochromatosis: pathophysiology, evaluation, and management of hepatic iron overload with a focus on MRI. ( 29966105 )
2018
48
Hemochromatosis (HFE) Gene Variants Are Associated with Increased Mitochondrial DNA Levels During HIV-1 Infection and Antiretroviral Therapy. ( 29968489 )
2018
49
The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism. ( 30002125 )
2018
50
Educational Case: Iron Overload and Hemochromatosis. ( 30057941 )
2018
Sources

Variations for Hemochromatosis, Type 1

About this section

UniProtKB/Swiss-Prot genetic disease variations for Hemochromatosis, Type 1:

76 (show all 11)
# 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.Gly43Asp VAR_042507
9 HFE p.Arg66Cys VAR_042508 rs747739169
10 HFE p.Arg224Gly VAR_042510
11 HFE p.Val295Ala VAR_042511 rs143175221

ClinVar genetic disease variations for Hemochromatosis, Type 1:

6 (show top 50) (show all 306)
# Gene Variation Type Significance SNP ID Assembly Location
1 TFR2 NM_003227.3(TFR2): c.2033G> C (p.Arg678Pro) single nucleotide variant Likely pathogenic rs786204108 GRCh38 Chromosome 7, 100626866: 100626866
2 TFR2 NM_003227.3(TFR2): c.2033G> C (p.Arg678Pro) single nucleotide variant Likely pathogenic rs786204108 GRCh37 Chromosome 7, 100224489: 100224489
3 TFR2 NM_003227.3(TFR2): c.829G> T (p.Val277Leu) single nucleotide variant Uncertain significance rs754813237 GRCh38 Chromosome 7, 100633021: 100633021
4 TFR2 NM_003227.3(TFR2): c.829G> T (p.Val277Leu) single nucleotide variant Uncertain significance rs754813237 GRCh37 Chromosome 7, 100230644: 100230644
5 HAMP NM_021175.3(HAMP): c.216C> A (p.Cys72Ter) single nucleotide variant Pathogenic rs763369315 GRCh38 Chromosome 19, 35285003: 35285003
6 HAMP NM_021175.3(HAMP): c.216C> A (p.Cys72Ter) single nucleotide variant Pathogenic rs763369315 GRCh37 Chromosome 19, 35775906: 35775906
7 HFE NM_000410.3(HFE): c.506G> A (p.Trp169Ter) single nucleotide variant Pathogenic rs797045145 GRCh37 Chromosome 6, 26091707: 26091707
8 HFE NM_000410.3(HFE): c.506G> A (p.Trp169Ter) single nucleotide variant Pathogenic rs797045145 GRCh38 Chromosome 6, 26091479: 26091479
9 HFE NM_000410.3(HFE): c.18G> C (p.Arg6Ser) single nucleotide variant Uncertain significance rs149342416 GRCh38 Chromosome 6, 26087458: 26087458
10 HFE NM_000410.3(HFE): c.18G> C (p.Arg6Ser) single nucleotide variant Uncertain significance rs149342416 GRCh37 Chromosome 6, 26087686: 26087686
11 TFR2 NM_003227.3(TFR2): c.135G> A (p.Ala45=) single nucleotide variant Benign rs141968146 GRCh38 Chromosome 7, 100641127: 100641127
12 TFR2 NM_003227.3(TFR2): c.135G> A (p.Ala45=) single nucleotide variant Benign rs141968146 GRCh37 Chromosome 7, 100238750: 100238750
13 HAMP NM_021175.3(HAMP): c.54C> T (p.Leu18=) single nucleotide variant Likely benign rs145846674 GRCh37 Chromosome 19, 35773534: 35773534
14 HAMP NM_021175.3(HAMP): c.54C> T (p.Leu18=) single nucleotide variant Likely benign rs145846674 GRCh38 Chromosome 19, 35282631: 35282631
15 HAMP NM_021175.3(HAMP): c.218G> A (p.Cys73Tyr) single nucleotide variant Uncertain significance rs863224779 GRCh38 Chromosome 19, 35285005: 35285005
16 HAMP NM_021175.3(HAMP): c.218G> A (p.Cys73Tyr) single nucleotide variant Uncertain significance rs863224779 GRCh37 Chromosome 19, 35775908: 35775908
17 HFE NM_000410.3(HFE): c.189T> C (p.His63=) single nucleotide variant Benign rs147426902 GRCh38 Chromosome 6, 26090953: 26090953
18 HFE NM_000410.3(HFE): c.189T> C (p.His63=) single nucleotide variant Benign rs147426902 GRCh37 Chromosome 6, 26091181: 26091181
19 TFR2 NM_003227.3(TFR2): c.2255G> A (p.Arg752His) single nucleotide variant Benign/Likely benign rs41295942 GRCh38 Chromosome 7, 100621008: 100621008
20 TFR2 NM_003227.3(TFR2): c.2255G> A (p.Arg752His) single nucleotide variant Benign/Likely benign rs41295942 GRCh37 Chromosome 7, 100218631: 100218631
21 TFR2 NM_003227.3(TFR2): c.2246G> A (p.Arg749Gln) single nucleotide variant Uncertain significance rs369355407 GRCh37 Chromosome 7, 100218640: 100218640
22 TFR2 NM_003227.3(TFR2): c.2246G> A (p.Arg749Gln) single nucleotide variant Uncertain significance rs369355407 GRCh38 Chromosome 7, 100621017: 100621017
23 TFR2 NM_003227.3(TFR2): c.2085G> C (p.Ser695=) single nucleotide variant Benign rs150303632 GRCh37 Chromosome 7, 100224437: 100224437
24 TFR2 NM_003227.3(TFR2): c.2085G> C (p.Ser695=) single nucleotide variant Benign rs150303632 GRCh38 Chromosome 7, 100626814: 100626814
25 TFR2 NM_003227.3(TFR2): c.1995+9G> C single nucleotide variant Benign/Likely benign rs41295921 GRCh37 Chromosome 7, 100224878: 100224878
26 TFR2 NM_003227.3(TFR2): c.1995+9G> C single nucleotide variant Benign/Likely benign rs41295921 GRCh38 Chromosome 7, 100627255: 100627255
27 TFR2 NM_003227.3(TFR2): c.665A> T (p.Glu222Val) single nucleotide variant Uncertain significance rs763919775 GRCh38 Chromosome 7, 100633290: 100633290
28 TFR2 NM_003227.3(TFR2): c.665A> T (p.Glu222Val) single nucleotide variant Uncertain significance rs763919775 GRCh37 Chromosome 7, 100230913: 100230913
29 HAMP NM_021175.3(HAMP): c.150+6C> T single nucleotide variant Uncertain significance rs375386964 GRCh37 Chromosome 19, 35775757: 35775757
30 HAMP NM_021175.3(HAMP): c.150+6C> T single nucleotide variant Uncertain significance rs375386964 GRCh38 Chromosome 19, 35284854: 35284854
31 HAMP NM_021175.3(HAMP): c.252G> A (p.Thr84=) single nucleotide variant Likely benign rs150121265 GRCh38 Chromosome 19, 35285039: 35285039
32 HAMP NM_021175.3(HAMP): c.252G> A (p.Thr84=) single nucleotide variant Likely benign rs150121265 GRCh37 Chromosome 19, 35775942: 35775942
33 HFE NM_000410.3(HFE): c.845G> A (p.Cys282Tyr) single nucleotide variant Conflicting interpretations of pathogenicity, association, other, risk factor rs1800562 GRCh37 Chromosome 6, 26093141: 26093141
34 HFE NM_000410.3(HFE): c.845G> A (p.Cys282Tyr) single nucleotide variant Conflicting interpretations of pathogenicity, association, other, risk factor rs1800562 GRCh38 Chromosome 6, 26092913: 26092913
35 HFE NM_000410.3(HFE): c.187C> G (p.His63Asp) single nucleotide variant Pathogenic,risk factor rs1799945 GRCh37 Chromosome 6, 26091179: 26091179
36 HFE NM_000410.3(HFE): c.187C> G (p.His63Asp) single nucleotide variant Pathogenic,risk factor rs1799945 GRCh38 Chromosome 6, 26090951: 26090951
37 HFE NM_000410.3(HFE): c.193A> T (p.Ser65Cys) single nucleotide variant Uncertain significance rs1800730 GRCh37 Chromosome 6, 26091185: 26091185
38 HFE NM_000410.3(HFE): c.193A> T (p.Ser65Cys) single nucleotide variant Uncertain significance rs1800730 GRCh38 Chromosome 6, 26090957: 26090957
39 HFE NM_000410.3(HFE): c.314T> C (p.Ile105Thr) single nucleotide variant Pathogenic rs28934596 GRCh37 Chromosome 6, 26091306: 26091306
40 HFE NM_000410.3(HFE): c.314T> C (p.Ile105Thr) single nucleotide variant Pathogenic rs28934596 GRCh38 Chromosome 6, 26091078: 26091078
41 HFE NM_000410.3(HFE): c.277G> C (p.Gly93Arg) single nucleotide variant Pathogenic rs28934597 GRCh37 Chromosome 6, 26091269: 26091269
42 HFE NM_000410.3(HFE): c.277G> C (p.Gly93Arg) single nucleotide variant Pathogenic rs28934597 GRCh38 Chromosome 6, 26091041: 26091041
43 HFE NM_000410.3(HFE): c.381A> C (p.Gln127His) single nucleotide variant Pathogenic rs28934595 GRCh37 Chromosome 6, 26091582: 26091582
44 HFE NM_000410.3(HFE): c.381A> C (p.Gln127His) single nucleotide variant Pathogenic rs28934595 GRCh38 Chromosome 6, 26091354: 26091354
45 HFE NM_000410.3(HFE): c.989G> T (p.Arg330Met) single nucleotide variant Pathogenic rs111033558 GRCh37 Chromosome 6, 26093443: 26093443
46 HFE NM_000410.3(HFE): c.989G> T (p.Arg330Met) single nucleotide variant Pathogenic rs111033558 GRCh38 Chromosome 6, 26093215: 26093215
47 HFE NM_000410.3(HFE): c.848A> C (p.Gln283Pro) single nucleotide variant Pathogenic rs111033563 GRCh37 Chromosome 6, 26093144: 26093144
48 HFE NM_000410.3(HFE): c.848A> C (p.Gln283Pro) single nucleotide variant Pathogenic rs111033563 GRCh38 Chromosome 6, 26092916: 26092916
49 HJV NM_213653.3(HJV): c.959G> T (p.Gly320Val) single nucleotide variant Pathogenic rs74315323 GRCh37 Chromosome 1, 145416614: 145416614
50 HJV NM_213653.3(HJV): c.959G> T (p.Gly320Val) single nucleotide variant Pathogenic rs74315323 GRCh38 Chromosome 1, 146018399: 146018399
Sources

Expression for Hemochromatosis, Type 1

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Search GEO for disease gene expression data for Hemochromatosis, Type 1.
Sources

Pathways for Hemochromatosis, Type 1

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Pathways related to Hemochromatosis, Type 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 67
Show member pathways
 13.14 CP CYBRD1 FTL HEPH SLC11A2 SLC40A1
2
Insulin receptor recycling 67
Show member pathways
 12.3 CP CYBRD1 FTL HEPH SLC11A2 SLC40A1
3
Glucose / Energy Metabolism 4
12.27 ACO1 CP IREB2 SLC11A2
4
Porphyrin and chlorophyll metabolism 38
Show member pathways
 12.11 CP FXN HEPH UROD
5
Metal ion SLC transporters 67
Show member pathways
 11.65 CP HEPH SLC11A2 SLC40A1
6
HIF-1-alpha transcription factor network 1
11.42 CP TF TFRC
7
Mineral absorption 38
11.34 CYBRD1 FTL HEPH SLC11A2 SLC40A1 TF
8
Ferroptosis 38
11.03 CP FTL SLC11A2 SLC40A1 TF TFRC
9
Hfe effect on hepcidin production 1
10.34 HAMP HFE HJV
10
Iron metabolism in placenta 1
10.3 ACO1 HAMP IREB2 SLC11A2 SLC40A1 TF
Sources

GO Terms for Hemochromatosis, Type 1

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Cellular components related to Hemochromatosis, Type 1 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.91 HFE SLC11A2 TF TFR2 TFRC
2 perinuclear region of cytoplasm GO:0048471 9.88 HEPH HFE SLC11A2 TF TFRC
3 external side of plasma membrane GO:0009897 9.8 B2M HFE TFR2 TFRC
4 cell surface GO:0009986 9.8 B2M BMP2 HJV HLA-B SLC11A2 TF
5 early endosome GO:0005769 9.73 HFE SLC11A2 TF TFRC
6 recycling endosome GO:0055037 9.67 HFE SLC11A2 TF TFRC
7 basal part of cell GO:0045178 9.33 HFE SLC11A2 TF
8 BMP receptor complex GO:0070724 9.32 BMP2 HJV
9 MHC class I protein complex GO:0042612 9.26 B2M HFE HLA-B MR1
10 HFE-transferrin receptor complex GO:1990712 9.1 B2M HFE HJV TF TFR2 TFRC
11 extracellular exosome GO:0070062 10.06 ACO1 B2M CP CYBRD1 FTL HLA-B
12 extracellular space GO:0005615 10.06 B2M BMP2 CP HAMP HEPH HFE

Biological processes related to Hemochromatosis, Type 1 according to GeneCards Suite gene sharing:

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 BMP signaling pathway GO:0030509 9.81 BMP2 HFE HJV
2 positive regulation of protein binding GO:0032092 9.79 B2M BMP2 HFE
3 acute-phase response GO:0006953 9.74 HAMP HFE TFR2
4 transferrin transport GO:0033572 9.73 HFE TF TFR2 TFRC
5 response to iron ion GO:0010039 9.73 CYBRD1 FXN HAMP HFE SLC11A2 TFR2
6 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.71 B2M HFE HLA-B MR1
7 positive regulation of receptor-mediated endocytosis GO:0048260 9.69 B2M HFE TF
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 HJV
11 iron ion homeostasis GO:0055072 9.65 B2M FTL FXN HEPH HFE HJV
12 porphyrin-containing compound biosynthetic process GO:0006779 9.64 SLC11A2 UROD
13 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent GO:0002480 9.63 B2M HLA-B
14 copper ion transport GO:0006825 9.63 CP HEPH SLC11A2
15 positive regulation of peptide hormone secretion GO:0090277 9.62 HFE TFR2
16 protoporphyrinogen IX biosynthetic process GO:0006782 9.62 IREB2 UROD
17 cellular response to iron ion GO:0071281 9.62 B2M HFE TF TFR2
18 citrate metabolic process GO:0006101 9.61 ACO1 IREB2
19 negative regulation of receptor binding GO:1900121 9.59 B2M HFE
20 positive regulation of receptor binding GO:1900122 9.58 B2M HFE
21 response to iron(II) ion GO:0010040 9.58 ACO1 IREB2
22 cellular response to iron(III) ion GO:0071283 9.56 B2M IREB2
23 response to iron ion starvation GO:1990641 9.55 HAMP HFE
24 positive regulation of ferrous iron binding GO:1904434 9.54 B2M HFE
25 positive regulation of transferrin receptor binding GO:1904437 9.52 B2M HFE
26 iron ion transport GO:0006826 9.23 B2M FTL HEPH IREB2 SLC11A2 SLC40A1
27 oxidation-reduction process GO:0055114 10.08 BMP2 CP CYBRD1 FTL FXN HEPH
28 immune response GO:0006955 10.03 B2M HAMP HFE HLA-B MR1
29 cellular iron ion homeostasis GO:0006879 10.03 ACO1 CP CYBRD1 FTL FXN HAMP
30 ion transport GO:0006811 10.02 CP FXN HEPH HFE SLC11A2 SLC40A1

Molecular functions related to Hemochromatosis, Type 1 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 9.71 CP HEPH SLC11A2
2 co-receptor binding GO:0039706 9.54 BMP2 HFE TFR2
3 iron ion transmembrane transporter activity GO:0005381 9.52 SLC11A2 SLC40A1
4 ferrous iron transmembrane transporter activity GO:0015093 9.51 SLC11A2 SLC40A1
5 ferric iron binding GO:0008199 9.5 FTL FXN TF
6 aconitate hydratase activity GO:0003994 9.49 ACO1 IREB2
7 iron chaperone activity GO:0034986 9.48 FXN TF
8 iron-responsive element binding GO:0030350 9.46 ACO1 IREB2
9 transferrin receptor activity GO:0004998 9.43 TFR2 TFRC
10 transferrin receptor binding GO:1990459 9.43 HFE HJV TF
11 transferrin transmembrane transporter activity GO:0033570 9.4 TFR2 TFRC
12 oxidoreductase activity, oxidizing metal ions GO:0016722 9.33 CP CYBRD1 HEPH
13 ferrous iron binding GO:0008198 9.26 FTL FXN HEPH TF
14 ferroxidase activity GO:0004322 8.92 CP FTL FXN HEPH
15 protein binding GO:0005515 10.48 ACO1 B2M BMP2 CYBRD1 FTL FXN
Sources

Sources for Hemochromatosis, Type 1

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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