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MCID: HMC039
MIFTS: 70

Hemochromatosis, Type 1

Categories: Genetic diseases, Rare diseases, Liver diseases, Metabolic 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 57 40 73
Hemochromatosis 57 12 76 53 25 37 13 55 43 44 15 63 40 73
Hereditary Hemochromatosis 76 25 75 29 55 6 73
Hemochromatosis Type 1 12 76 53 75 29 6
Hfe1 57 12 75
Hh 57 25 75
Symptomatic Form of Hfe-Related Hereditary Hemochromatosis 12 59
Symptomatic Form of Classic Hemochromatosis 12 59
Symptomatic Form of Hemochromatosis Type 1 12 59
Hemochromatosis, Hereditary 57 76
Iron Storage Disorder 12 25
Haemochromatosis 12 25
Hlah 25 75
Hfe-Associated Hereditary Hemochromatosis 53
Von Recklenhausen-Applebaum Disease 25
Primary Hereditary Hemochromatosis 75
Troisier-Hanot-Chauffard Syndrome 25
Hfe Hemochromatosis, Modifier of 57
Hemochromatosis, Hereditary; Hh 57
Hereditary Haemochromatosis 25
Familial Hemochromatosis 25
Classic Hemochromatosis 53
Hemochromatosis Classic 53
Genetic Hemochromatosis 25
Primary Hemochromatosis 25
Hemochromatosis; Hfe 57
Pigmentary Cirrhosis 25
Bronzed Cirrhosis 25
Hemochromatosis 1 75
Bronze Cirrhosis 73
Diabetes Bronze 12
Bronze Diabetes 25
Hfe 57
Hc 25

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
hemochromatosis, type 1:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Liver diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Rare hepatic diseases
Inborn errors of metabolism


Sources

Summaries for Hemochromatosis, Type 1

About this section
NIH Rare Diseases : 53 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 hfe-associated hereditary hemochromatosis and hemochromatosis, type 3, and has symptoms including abdominal pain, constipation and diarrhea. 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 Iron and Omeprazole have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and pancreas, and related phenotypes are hypogonadism and hyperpigmentation of the skin

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

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.

OMIM : 57 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 : 43 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 : 75 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 : 63 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 : 76 Iron overload (variously known as haemochromatosis, hemochromatosis, hemochromocytosis, Celtic curse,... more...

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 112)
# Related Disease Score Top Affiliating Genes
1 hfe-associated hereditary hemochromatosis 34.4 HFE HJV SLC11A2 TFR2
2 hemochromatosis, type 3 32.7 HFE TFR2
3 hemochromatosis, type 4 32.6 SLC40A1 TFR2
4 hemochromatosis type 2 32.2 HAMP HFE HJV SLC40A1 TFR2
5 porphyria 31.1 HFE TF UROD
6 porphyria cutanea tarda 30.7 HAMP HFE TF TFRC UROD
7 siderosis 30.0 HFE SLC40A1 TF TFRC UROD
8 hemosiderosis 29.4 CP FTL HAMP HFE SLC11A2 SLC40A1
9 tfr2-related hereditary hemochromatosis 12.2
10 tumoral calcinosis, hyperphosphatemic, familial, 1 11.8
11 hypotrichosis 1 11.7
12 hajdu-cheney syndrome 11.6
13 hypotonia-cystinuria syndrome 11.5
14 dyskeratosis congenita, x-linked 11.5
15 hypogonadotropic hypogonadism 7 with or without anosmia 11.4
16 heart-hand syndrome, slovenian type 11.4
17 hemicrania continua 11.3
18 holocarboxylase synthetase deficiency 11.3
19 hypothalamic hamartomas 11.0
20 charge syndrome 11.0
21 juvenile hereditary hemochromatosis 11.0
22 hemochromatosis, neonatal 11.0
23 hemochromatosis, type 5 11.0
24 iron overload in africa 10.9 HFE TF
25 dyskeratosis congenita, autosomal dominant 1 10.9
26 hypogonadotropic hypogonadism 2 with or without anosmia 10.9
27 dyskeratosis congenita, autosomal recessive 5 10.9
28 kallmann syndrome 10.9
29 hemochromatosis, type 2a 10.9 HAMP HJV
30 porphyria cutanea tarda, type i 10.9 HFE UROD
31 hyperinsulinemic hypoglycemia, familial, 6 10.9
32 hypotrichosis simplex 10.9
33 familial porphyria cutanea tarda 10.8 HFE UROD
34 hyperferritinemia with or without cataract 10.8 FTL HFE TF
35 hypogonadotropic hypogonadism 3 with or without anosmia 10.7
36 hypogonadotropic hypogonadism 4 with or without anosmia 10.7
37 hypogonadotropic hypogonadism 5 with or without anosmia 10.7
38 hypogonadotropic hypogonadism 6 with or without anosmia 10.7
39 hypogonadotropic hypogonadism 8 with or without anosmia 10.7
40 hypogonadotropic hypogonadism 9 with or without anosmia 10.7
41 hypogonadotropic hypogonadism 10 with or without anosmia 10.7
42 hypogonadotropic hypogonadism 11 with or without anosmia 10.7
43 hypogonadotropic hypogonadism 12 with or without anosmia 10.7
44 hypogonadotropic hypogonadism 13 with or without anosmia 10.7
45 hypogonadotropic hypogonadism 14 with or without anosmia 10.7
46 hypogonadotropic hypogonadism 15 with or without anosmia 10.7
47 hypogonadotropic hypogonadism 16 with or without anosmia 10.7
48 hypogonadotropic hypogonadism 17 with or without anosmia 10.7
49 hypogonadotropic hypogonadism 18 with or without anosmia 10.7
50 hypogonadotropic hypogonadism 19 with or without anosmia 10.7

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

Symptoms via clinical synopsis from OMIM:

57
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

AbdomenSpleen:
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

Human phenotypes related to Hemochromatosis, Type 1:

59 32 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000135
2 hyperpigmentation of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000953
3 increased serum ferritin 59 32 hallmark (90%) Very frequent (99-80%) HP:0003281
4 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
5 gynecomastia 59 32 frequent (33%) Frequent (79-30%) HP:0000771
6 impotence 59 32 frequent (33%) Frequent (79-30%) HP:0000802
7 abnormality of the hypothalamus-pituitary axis 59 32 frequent (33%) Frequent (79-30%) HP:0000864
8 chondrocalcinosis 59 32 frequent (33%) Frequent (79-30%) HP:0000934
9 joint dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0001373
10 limitation of joint mobility 59 32 frequent (33%) Frequent (79-30%) HP:0001376
11 hepatic steatosis 59 32 frequent (33%) Frequent (79-30%) HP:0001397
12 hepatomegaly 59 32 frequent (33%) Frequent (79-30%) HP:0002240
13 arthralgia 59 32 frequent (33%) Frequent (79-30%) HP:0002829
14 arthropathy 59 32 frequent (33%) Frequent (79-30%) HP:0003040
15 retinopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000488
16 diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000819
17 osteoporosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000939
18 cirrhosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001394
19 cholestasis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001396
20 hepatocellular carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0001402
21 ascites 59 32 occasional (7.5%) Occasional (29-5%) HP:0001541
22 alopecia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001596
23 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
24 cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001638
25 exocrine pancreatic insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0001738
26 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
27 vertigo 59 32 occasional (7.5%) Occasional (29-5%) HP:0002321
28 peripheral neuropathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0009830
29 azoospermia 32 HP:0000027
30 testicular atrophy 32 HP:0000029
31 hypogonadotrophic hypogonadism 32 HP:0000044
32 amenorrhea 32 HP:0000141
33 telangiectasia 32 HP:0001009
34 cardiomegaly 32 HP:0001640
35 abnormal glucose tolerance 32 HP:0001952
36 abdominal pain 32 HP:0002027
37 pleural effusion 32 HP:0002202
38 elevated hepatic transaminases 32 HP:0002910
39 increased serum iron 32 HP:0003452
40 arrhythmia 32 HP:0011675

UMLS symptoms related to Hemochromatosis, Type 1:


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

MGI Mouse Phenotypes related to Hemochromatosis, Type 1:

46
# 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 TF TFR2 TFRC B2M BMP2 CP
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 TFRC UROD B2M CP CYBRD1 HEPH
6 digestive/alimentary MP:0005381 9.98 BMP2 HEPH HFE IREB2 SLC40A1 TFRC
7 mortality/aging MP:0010768 9.93 ACO1 B2M BMP2 FXN HFE HJV
8 nervous system MP:0003631 9.65 FXN HEPH HFE IREB2 SLC11A2 SLC40A1
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: 63

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 all 42)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 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,Not Applicable
7 Anti-Ulcer Agents Phase 4,Not Applicable
8 Gastrointestinal Agents Phase 4,Not Applicable
9 Proton Pump Inhibitors Phase 4,Not Applicable
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,Not Applicable
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
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
18
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
19
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 6221 5280795
20 Hepcidins Phase 2
21 Micronutrients Phase 2,Phase 1,Not Applicable
22 Trace Elements Phase 2,Phase 1,Not Applicable
23 Calcium, Dietary Phase 2,Phase 1
24 Antirheumatic Agents Phase 2
25 Interleukin 1 Receptor Antagonist Protein Phase 2
26 Anti-Infective Agents Phase 2
27 Bone Density Conservation Agents Phase 2
28 Ergocalciferols Phase 2
29 Vitamins Phase 2
30 Vaccines Phase 1, 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 Not Applicable 102625-70-7 4679
38 Kava Approved, Investigational, Nutraceutical 9000-38-8
39 Trichostatin A
40 Hematinics
41
Bilirubin 635-65-4 5280352
42 Iron Supplement Nutraceutical Not Applicable

Interventional clinical trials:

(show top 50) (show all 58)
# 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 Treatment of Refractory Hemochromatosis Rheumatism by Anakinra: a Preliminary Phase II Study Recruiting NCT02263638 Phase 2 Anakinra
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 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 iron fumarate
18 The Deferasirox-calcium-vitamin D3 Therapy for Postmenopausal Osteoporosis (PMOP) Recruiting NCT02854722 Phase 2 Deferasirox and calcium-vitamin D3;Calcium-vitamin D3
19 Trial of Therapeutic Vaccine in Patients With Cholangiocarcinoma Recruiting NCT03042182 Phase 1, Phase 2
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 Research Network for Neonatal Diseases Induced by Tissular Fetomaternal Alloimmunization Unknown status NCT00199628
26 Estimation of Myocardial Iron Overload by 3 Tesla MRI in HFE Hereditary Haemochromatosis Completed NCT02099214 Not Applicable
27 HEPFER-Evaluation of a New Phenotypic Biological Marker in Genetic Type 1 Hemochromatosis Completed NCT01784939
28 Bone Status on Patients With Genetic Hemochromatosis: a 3 Years Descriptive and Evolutionary Study Completed NCT01556360
29 Respiratory Variations For Assessing Blood Withdrawal Completed NCT03066414
30 Deferoxamine for the Treatment of Hemochromatosis Completed NCT00001203
31 Evaluation of a New MR Pulse Sequence to Quantify Liver Iron Concentration Completed NCT00587535
32 Hemochromatosis--Genetic Prevalence and Penetrance Completed NCT00006312
33 Statistical Basis for Hemochromatosis Screening Completed NCT00005559
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 Iron Overload in African Americans Completed NCT00001455
37 Impact of Host Iron Status and Iron Supplement Use on Erythrocytic Stage of Plasmodium Falciparum Completed NCT01027663 Not Applicable
38 Study of the Pathogenesis of Porphyria Cutanea Tarda Completed NCT00005103
39 High-Tc Susceptometer to Monitor Transfusional Iron Overload Completed NCT01241357
40 Risk Factors of Porphyria Cutanea Tarda (PCT) Completed NCT00213772
41 Massive Iron Deposit Assessment Completed NCT01572922 Not Applicable
42 Ischemia Modified Albumin (IMA) Expression in the Male and Female Population Completed NCT02894671
43 Iron Overload in Stem Cell Transplant Recipients Completed NCT00806715
44 Treatment of Hemochromatosis Recruiting NCT00007150
45 Impact of Bloodletting on Iron Metabolism in Type 1 Hemochromatosis Recruiting NCT01810965 Not Applicable
46 Transferrin Saturation and Asthenia in Hemochromatosis Recruiting NCT03356548
47 Effects of Polyphenols on Iron Absorption in Iron Overload Disorders. Recruiting NCT03453918 Not Applicable
48 Confounder-Corrected Quantitative MRI Biomarker of Hepatic Iron Content Recruiting NCT02025543
49 Long Term Follow-up of Integra® Cadence™ Total Ankle System in Primary Ankle Joint Replacement Recruiting NCT03247023
50 China Registry for Genetic / Metabolic Liver Diseases Recruiting NCT03131427 Standard of care

Search NIH Clinical Center for Hemochromatosis, Type 1

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: hemochromatosis

Sources

Genetic Tests for Hemochromatosis, Type 1

About this section

Genetic tests related to Hemochromatosis, Type 1:

# Genetic test Affiliating Genes
1 Hemochromatosis Type 1 29 BMP2 HFE
2 Hereditary Hemochromatosis 29
Sources

Anatomical Context for Hemochromatosis, Type 1

About this section

MalaCards organs/tissues related to Hemochromatosis, Type 1:

41
Liver, Heart, Pancreas, Testes, Skin, Lung, Bone
Sources

Publications for Hemochromatosis, Type 1

About this section

Articles related to Hemochromatosis, Type 1:

(show top 50) (show all 393)
# Title Authors Year
1
Hereditary Hemochromatosis Manifesting After Treatment of Paroxysmal Nocturnal Hemoglobinuria With Eculizumab. ( 29102415 )
2018
2
Radiological features of crystal-induced arthropathy associated with hereditary hemochromatosis with homozygous C282Y mutation. ( 29731342 )
2018
3
Common founder effects of hereditary hemochromatosis, WilsonA's disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the<i>WHRN</i>and<i>TMC1</i>genes. ( 29270100 )
2017
4
Identification of hereditary hemochromatosis pedigrees and a novel SLC40A1 mutation in Chinese population. ( 28110135 )
2017
5
Properties of donated red blood cell components from patients with hereditary hemochromatosis. ( 27807848 )
2017
6
Type 4B hereditary hemochromatosis associated with a novel mutation in the SLC40A1 gene: A case report and a review of the literature. ( 28930842 )
2017
7
ASSESSMENT OF DRUSEN AND OTHER RETINAL DEGENERATIVE CHANGES IN PATIENTS WITH HEREDITARY HEMOCHROMATOSIS. ( 28291154 )
2017
8
Hereditary hemochromatosis arthropathy and Doppler ultrasound findings of synovitis. ( 28371912 )
2017
9
Porphyria Cutanea Tarda as the Initial Manifestation of Subclinical Hereditary Hemochromatosis. ( 28479501 )
2017
10
Musculoskeletal Involvement in Hereditary Hemochromatosis. ( 28700532 )
2017
11
Comment on: Hereditary hemochromatosis arthropathy and Doppler ultrasound findings of synovitis. ( 29228359 )
2017
12
Late-onset Hemochromatosis: Co-inheritance of I^-thalassemia and Hereditary Hemochromatosis in a Chinese Family: A Case Report and Epidemiological Analysis of Diverse Populations. ( 28943547 )
2017
13
Association of Transferrin Saturation With the Arthropathy of Hereditary Hemochromatosis. ( 28624652 )
2017
14
R2*-relaxometry of the pancreas in patients with human hemochromatosis protein associated hereditary hemochromatosis. ( 28267532 )
2017
15
Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes. ( 28771247 )
2017
16
Hypogonadotropic hypogonadism in men with hereditary hemochromatosis. ( 28694969 )
2017
17
Recent advance in the molecular genetics of Wilson disease and hereditary hemochromatosis. ( 27592149 )
2016
18
Identification of novel mutations in HFE, HFE2, TfR2, and SLC40A1 genes in Chinese patients affected by hereditary hemochromatosis. ( 27896572 )
2016
19
Population-based analysis of the frequency of HFE gene polymorphisms: Correlation with the susceptibility to develop hereditary hemochromatosis. ( 27221532 )
2016
20
Hyperferritinemia increases the risk of hyperuricemia in HFE-hereditary hemochromatosis. ( 27659401 )
2016
21
A Novel Phenotype of a Hereditary Hemochromatosis Type 4 with Ferroportin-1 Mutation, Presenting with Juvenile Cataracts. ( 27629970 )
2016
22
Hereditary hemochromatosis: Dealing with iron overload. ( 27096913 )
2016
23
Hereditary hemochromatosis: Dealing with iron overload. ( 27032055 )
2016
24
Successful Treatment of Iron-Overload Cardiomyopathy in Hereditary Hemochromatosis With Deferoxamine and Deferiprone. ( 27789107 )
2016
25
Blood removal therapy in hereditary hemochromatosis induces a stress response resulting in improved genome integrity. ( 27045387 )
2016
26
Hereditary Hemochromatosis Predisposes Mice to Yersinia pseudotuberculosis Infection Even in the Absence of the Type III Secretion System. ( 27446816 )
2016
27
Molecular pathogenesis of hereditary hemochromatosis. ( 27031690 )
2016
28
Severe Myocardial Dysfunction Reversed by Iron-Chelation Therapy in an Asian Patient with Hereditary Hemochromatosis. ( 27140717 )
2016
29
Accepting hereditary hemochromatosis blood donors: ask not why, ask why not. ( 27933629 )
2016
30
Next-generation sequencing of hereditary hemochromatosis-related genes: Novel likely pathogenic variants found in the Portuguese population. ( 27667161 )
2016
31
Effect of Hereditary Hemochromatosis Gene (HFE) H63D and C282Y Mutations on Iron Overload in Sickle Cell Disease Patients. ( 27095682 )
2016
32
Frequency of Hereditary Hemochromatosis (HFE) Gene Mutations in Egyptian Beta Thalassemia Patients and its Relation to Iron Overload. ( 27335591 )
2016
33
Endocrine dysfunction in hereditary hemochromatosis. ( 26951056 )
2016
34
Genetic disruption of NRF2 promotes the development of necroinflammation and liver fibrosis in a mouse model of HFE-hereditary hemochromatosis. ( 27936457 )
2016
35
Highly accurate molecular genetic testing for HFE hereditary hemochromatosis: results from 10 years of blinded proficiency surveys by the College of American Pathologists. ( 27124787 )
2016
36
Effect of C282Y Genotype on Self-Reported Musculoskeletal Complications in Hereditary Hemochromatosis. ( 25822977 )
2015
37
Treating with liraglutide an obese patient with type 2 diabetes mellitus and hereditary hemochromatosis. ( 25801016 )
2015
38
High Liver FDG Uptake on PET/CT in Patient With Lymphoma Diagnosed With Hereditary Hemochromatosis. ( 25608173 )
2015
39
[Usefulness of a diagnostic algorithm hyperferritinemia: A case report of a Spanish family with hereditary hemochromatosis and mutation in SLC40A1 gene]. ( 25441019 )
2015
40
The role of magnetic resonance imaging-T2* in the evaluation of iron overload early in hereditary hemochromatosis. A cross-sectional study with 159 patients. ( 26361371 )
2015
41
Hereditary hemochromatosis. ( 26484318 )
2015
42
Effects of strain and age on hepatic gene expression profiles in murine models of HFE-associated hereditary hemochromatosis. ( 25427953 )
2015
43
Hereditary hemochromatosis type 1 phenotype modifiers in Italian patients. The controversial role of variants in HAMP, BMP2, FTL and SLC40A1 genes. ( 25976471 )
2015
44
Iron overload in a murine model of hereditary hemochromatosis is associated with accelerated progression of osteoarthritis under mechanical stress. ( 26403062 )
2015
45
Hereditary Hemochromatosis. ( 26374358 )
2015
46
Deferasirox in patients with iron overload secondary to hereditary hemochromatosis: results of a 1-yr Phase 2 study. ( 25684349 )
2015
47
SLC39A14 Is Required for the Development of Hepatocellular Iron Overload in Murine Models of Hereditary Hemochromatosis. ( 26028554 )
2015
48
Lymphocyte Gene Expression Signatures from Patients and Mouse Models of Hereditary Hemochromatosis Reveal a Function of HFE as a Negative Regulator of CD8+ T-Lymphocyte Activation and Differentiation In Vivo. ( 25880808 )
2015
49
HFE-related Hereditary Hemochromatosis is not Invariably a Disease of Adulthood: Importance of Early Diagnosis and Phlebotomy in Childhood. ( 25000356 )
2014
50
Diagnosis and treatment of a 16-year-old Chinese patient with concurrent hereditary hemochromatosis and Gilbert's syndrome. ( 25262004 )
2014
Sources

Variations for Hemochromatosis, Type 1

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

75 (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 270)
# Gene Variation Type Significance SNP ID Assembly Location
1 HFE NM_000410.3(HFE): c.187C> G (p.His63Asp) single nucleotide variant Pathogenic,risk factor rs1799945 GRCh37 Chromosome 6, 26091179: 26091179
2 HFE NM_000410.3(HFE): c.187C> G (p.His63Asp) single nucleotide variant Pathogenic,risk factor rs1799945 GRCh38 Chromosome 6, 26090951: 26090951
3 HFE NM_000410.3(HFE): c.314T> C (p.Ile105Thr) single nucleotide variant Pathogenic rs28934596 GRCh37 Chromosome 6, 26091306: 26091306
4 HFE NM_000410.3(HFE): c.314T> C (p.Ile105Thr) single nucleotide variant Pathogenic rs28934596 GRCh38 Chromosome 6, 26091078: 26091078
5 HFE NM_000410.3(HFE): c.277G> C (p.Gly93Arg) single nucleotide variant Pathogenic rs28934597 GRCh37 Chromosome 6, 26091269: 26091269
6 HFE NM_000410.3(HFE): c.277G> C (p.Gly93Arg) single nucleotide variant Pathogenic rs28934597 GRCh38 Chromosome 6, 26091041: 26091041
7 HFE NM_000410.3(HFE): c.381A> C (p.Gln127His) single nucleotide variant Pathogenic rs28934595 GRCh37 Chromosome 6, 26091582: 26091582
8 HFE NM_000410.3(HFE): c.381A> C (p.Gln127His) single nucleotide variant Pathogenic rs28934595 GRCh38 Chromosome 6, 26091354: 26091354
9 HFE NM_000410.3(HFE): c.989G> T (p.Arg330Met) single nucleotide variant Pathogenic rs111033558 GRCh37 Chromosome 6, 26093443: 26093443
10 HFE NM_000410.3(HFE): c.989G> T (p.Arg330Met) single nucleotide variant Pathogenic rs111033558 GRCh38 Chromosome 6, 26093215: 26093215
11 HFE NM_000410.3(HFE): c.848A> C (p.Gln283Pro) single nucleotide variant Pathogenic rs111033563 GRCh37 Chromosome 6, 26093144: 26093144
12 HFE NM_000410.3(HFE): c.848A> C (p.Gln283Pro) single nucleotide variant Pathogenic rs111033563 GRCh38 Chromosome 6, 26092916: 26092916
13 HJV NM_213653.3(HJV): c.959G> T (p.Gly320Val) single nucleotide variant Pathogenic rs74315323 GRCh37 Chromosome 1, 145416614: 145416614
14 HJV NM_213653.3(HJV): c.959G> T (p.Gly320Val) single nucleotide variant Pathogenic rs74315323 GRCh38 Chromosome 1, 146018399: 146018399
15 HJV NM_213653.3(HJV): c.963C> A (p.Cys321Ter) single nucleotide variant Pathogenic rs121434374 GRCh37 Chromosome 1, 145416618: 145416618
16 HJV NM_213653.3(HJV): c.963C> A (p.Cys321Ter) single nucleotide variant Pathogenic rs121434374 GRCh38 Chromosome 1, 146018395: 146018395
17 HFE NM_000410.3(HFE): c.502G> T (p.Glu168Ter) single nucleotide variant Pathogenic rs146519482 GRCh38 Chromosome 6, 26091475: 26091475
18 HFE NM_000410.3(HFE): c.502G> T (p.Glu168Ter) single nucleotide variant Pathogenic rs146519482 GRCh37 Chromosome 6, 26091703: 26091703
19 TFR2 NM_003227.3(TFR2): c.2033G> C (p.Arg678Pro) single nucleotide variant Likely pathogenic rs786204108 GRCh38 Chromosome 7, 100626866: 100626866
20 TFR2 NM_003227.3(TFR2): c.2033G> C (p.Arg678Pro) single nucleotide variant Likely pathogenic rs786204108 GRCh37 Chromosome 7, 100224489: 100224489
21 TFR2 NM_003227.3(TFR2): c.829G> T (p.Val277Leu) single nucleotide variant Uncertain significance rs754813237 GRCh38 Chromosome 7, 100633021: 100633021
22 TFR2 NM_003227.3(TFR2): c.829G> T (p.Val277Leu) single nucleotide variant Uncertain significance rs754813237 GRCh37 Chromosome 7, 100230644: 100230644
23 HAMP NM_021175.3(HAMP): c.216C> A (p.Cys72Ter) single nucleotide variant Pathogenic rs763369315 GRCh38 Chromosome 19, 35285003: 35285003
24 HAMP NM_021175.3(HAMP): c.216C> A (p.Cys72Ter) single nucleotide variant Pathogenic rs763369315 GRCh37 Chromosome 19, 35775906: 35775906
25 HFE NM_000410.3(HFE): c.506G> A (p.Trp169Ter) single nucleotide variant Pathogenic rs797045145 GRCh37 Chromosome 6, 26091707: 26091707
26 HFE NM_000410.3(HFE): c.506G> A (p.Trp169Ter) single nucleotide variant Pathogenic rs797045145 GRCh38 Chromosome 6, 26091479: 26091479
27 HFE NM_000410.3(HFE): c.18G> C (p.Arg6Ser) single nucleotide variant Uncertain significance rs149342416 GRCh38 Chromosome 6, 26087458: 26087458
28 HFE NM_000410.3(HFE): c.18G> C (p.Arg6Ser) single nucleotide variant Uncertain significance rs149342416 GRCh37 Chromosome 6, 26087686: 26087686
29 TFR2 NM_003227.3(TFR2): c.135G> A (p.Ala45=) single nucleotide variant Benign rs141968146 GRCh38 Chromosome 7, 100641127: 100641127
30 TFR2 NM_003227.3(TFR2): c.135G> A (p.Ala45=) single nucleotide variant Benign rs141968146 GRCh37 Chromosome 7, 100238750: 100238750
31 HAMP NM_021175.3(HAMP): c.218G> A (p.Cys73Tyr) single nucleotide variant Uncertain significance rs863224779 GRCh38 Chromosome 19, 35285005: 35285005
32 HAMP NM_021175.3(HAMP): c.218G> A (p.Cys73Tyr) single nucleotide variant Uncertain significance rs863224779 GRCh37 Chromosome 19, 35775908: 35775908
33 HAMP NM_021175.3(HAMP): c.54C> T (p.Leu18=) single nucleotide variant Likely benign rs145846674 GRCh38 Chromosome 19, 35282631: 35282631
34 HAMP NM_021175.3(HAMP): c.54C> T (p.Leu18=) single nucleotide variant Likely benign rs145846674 GRCh37 Chromosome 19, 35773534: 35773534
35 HFE NM_000410.3(HFE): c.189T> C (p.His63=) single nucleotide variant Benign rs147426902 GRCh38 Chromosome 6, 26090953: 26090953
36 HFE NM_000410.3(HFE): c.189T> C (p.His63=) single nucleotide variant Benign rs147426902 GRCh37 Chromosome 6, 26091181: 26091181
37 TFR2 NM_003227.3(TFR2): c.2255G> A (p.Arg752His) single nucleotide variant Benign/Likely benign rs41295942 GRCh38 Chromosome 7, 100621008: 100621008
38 TFR2 NM_003227.3(TFR2): c.2255G> A (p.Arg752His) single nucleotide variant Benign/Likely benign rs41295942 GRCh37 Chromosome 7, 100218631: 100218631
39 TFR2 NM_003227.3(TFR2): c.2246G> A (p.Arg749Gln) single nucleotide variant Uncertain significance rs369355407 GRCh37 Chromosome 7, 100218640: 100218640
40 TFR2 NM_003227.3(TFR2): c.2246G> A (p.Arg749Gln) single nucleotide variant Uncertain significance rs369355407 GRCh38 Chromosome 7, 100621017: 100621017
41 TFR2 NM_003227.3(TFR2): c.2085G> C (p.Ser695=) single nucleotide variant Benign rs150303632 GRCh37 Chromosome 7, 100224437: 100224437
42 TFR2 NM_003227.3(TFR2): c.2085G> C (p.Ser695=) single nucleotide variant Benign rs150303632 GRCh38 Chromosome 7, 100626814: 100626814
43 TFR2 NM_003227.3(TFR2): c.1995+9G> C single nucleotide variant Benign/Likely benign rs41295921 GRCh37 Chromosome 7, 100224878: 100224878
44 TFR2 NM_003227.3(TFR2): c.1995+9G> C single nucleotide variant Benign/Likely benign rs41295921 GRCh38 Chromosome 7, 100627255: 100627255
45 TFR2 NM_003227.3(TFR2): c.665A> T (p.Glu222Val) single nucleotide variant Uncertain significance rs763919775 GRCh38 Chromosome 7, 100633290: 100633290
46 TFR2 NM_003227.3(TFR2): c.665A> T (p.Glu222Val) single nucleotide variant Uncertain significance rs763919775 GRCh37 Chromosome 7, 100230913: 100230913
47 HAMP NM_021175.3(HAMP): c.150+6C> T single nucleotide variant Uncertain significance rs375386964 GRCh37 Chromosome 19, 35775757: 35775757
48 HAMP NM_021175.3(HAMP): c.150+6C> T single nucleotide variant Uncertain significance rs375386964 GRCh38 Chromosome 19, 35284854: 35284854
49 HAMP NM_021175.3(HAMP): c.252G> A (p.Thr84=) single nucleotide variant Likely benign rs150121265 GRCh38 Chromosome 19, 35285039: 35285039
50 HAMP NM_021175.3(HAMP): c.252G> A (p.Thr84=) single nucleotide variant Likely benign rs150121265 GRCh37 Chromosome 19, 35775942: 35775942
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 66
Show member pathways
 13.14 CP CYBRD1 FTL HEPH SLC11A2 SLC40A1
2
Insulin receptor recycling 66
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 37
Show member pathways
 12.11 CP FXN HEPH UROD
5
Metal ion SLC transporters 66
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 37
11.34 CYBRD1 FTL HEPH SLC11A2 SLC40A1 TF
8
Ferroptosis 37
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:

# Name GO ID Score Top Affiliating Genes
1 perinuclear region of cytoplasm GO:0048471 9.88 HEPH HFE SLC11A2 TF TFRC
2 cell surface GO:0009986 9.8 B2M BMP2 HJV HLA-B SLC11A2 TF
3 external side of plasma membrane GO:0009897 9.76 B2M HFE TFR2 TFRC
4 early endosome GO:0005769 9.73 HFE SLC11A2 TF TFRC
5 recycling endosome GO:0055037 9.67 HFE SLC11A2 TF TFRC
6 basal part of cell GO:0045178 9.33 HFE SLC11A2 TF
7 BMP receptor complex GO:0070724 9.32 BMP2 HJV
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 HJV TF TFR2 TFRC
10 extracellular space GO:0005615 10.01 B2M BMP2 CP HAMP HFE HJV

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

(show all 29)
# 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 9.78 B2M BMP2 HFE
3 transferrin transport GO:0033572 9.76 HFE TF TFR2 TFRC
4 acute-phase response GO:0006953 9.75 HAMP HFE TFR2
5 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.73 B2M HFE HLA-B MR1
6 response to iron ion GO:0010039 9.73 CYBRD1 FXN HAMP HFE SLC11A2 TFR2
7 positive regulation of receptor-mediated endocytosis GO:0048260 9.7 B2M HFE TF
8 iron ion homeostasis GO:0055072 9.7 B2M FTL FXN HEPH HFE HJV
9 heme biosynthetic process GO:0006783 9.69 FXN SLC11A2 UROD
10 multicellular organismal iron ion homeostasis GO:0060586 9.67 HAMP HFE SLC11A2 SLC40A1
11 copper ion transport GO:0006825 9.65 CP HEPH SLC11A2
12 intestinal absorption GO:0050892 9.64 ACO1 IREB2
13 protein autoprocessing GO:0016540 9.64 FXN HJV
14 porphyrin-containing compound biosynthetic process GO:0006779 9.63 SLC11A2 UROD
15 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent GO:0002480 9.62 B2M HLA-B
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 positive regulation of peptide hormone secretion GO:0090277 9.61 HFE TFR2
19 negative regulation of receptor binding GO:1900121 9.6 B2M HFE
20 positive regulation of receptor binding GO:1900122 9.59 B2M HFE
21 iron ion import GO:0097286 9.58 TFR2 TFRC
22 regulation of iron ion import GO:1900390 9.58 B2M HFE TF
23 response to iron ion starvation GO:1990641 9.57 HAMP HFE
24 positive regulation of ferrous iron binding GO:1904434 9.56 B2M HFE
25 positive regulation of transferrin receptor binding GO:1904437 9.55 B2M HFE
26 ferric iron import GO:0033216 9.54 B2M TFR2
27 iron ion transport GO:0006826 9.23 B2M FTL HEPH IREB2 SLC11A2 SLC40A1
28 ion transport GO:0006811 10.04 CP FXN HEPH HFE SLC11A2 SLC40A1
29 cellular iron ion homeostasis GO:0006879 10.03 ACO1 CP CYBRD1 FTL FXN HAMP

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 ferrous iron binding GO:0008198 9.5 FXN HEPH TF
2 iron ion transmembrane transporter activity GO:0005381 9.49 SLC11A2 SLC40A1
3 ferrous iron transmembrane transporter activity GO:0015093 9.48 SLC11A2 SLC40A1
4 iron chaperone activity GO:0034986 9.46 FXN TF
5 iron-responsive element binding GO:0030350 9.43 ACO1 IREB2
6 co-receptor binding GO:0039706 9.43 BMP2 HFE TFR2
7 transferrin receptor activity GO:0004998 9.4 TFR2 TFRC
8 transferrin transmembrane transporter activity GO:0033570 9.37 TFR2 TFRC
9 ferric iron binding GO:0008199 9.33 FTL FXN TF
10 transferrin receptor binding GO:1990459 9.13 HFE HJV TF
11 ferroxidase activity GO:0004322 8.8 CP FXN HEPH
12 protein binding GO:0005515 10.44 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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