HFE1
MCID: HMC039
MIFTS: 75

Hemochromatosis, Type 1 (HFE1)

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Hemochromatosis, Type 1

MalaCards integrated aliases for Hemochromatosis, Type 1:

Name: Hemochromatosis, Type 1 57 38 71
Hemochromatosis 57 11 19 42 75 12 53 41 43 14 63 38 16 71
Hereditary Hemochromatosis 42 75 73 28 53 5 71
Hemochromatosis Type 1 11 19 75 73 28 5 14
Hh 57 42 73 16
Hfe1 57 11 73
Symptomatic Form of Hfe-Related Hereditary Hemochromatosis 11 58
Symptomatic Form of Classic Hemochromatosis 11 58
Symptomatic Form of Hemochromatosis Type 1 11 58
Hfe Hemochromatosis, Modifier of 57 28
Hereditary Haemochromatosis 42 75
Iron Storage Disorder 11 42
Haemochromatosis 11 42
Bronze Diabetes 42 5
Hlah 42 73
Hfe-Associated Hereditary Hemochromatosis 19
Von Recklenhausen-Applebaum Disease 42
Primary Hereditary Hemochromatosis 73
Troisier-Hanot-Chauffard Syndrome 42
Hemochromatosis, Hereditary 57
Familial Hemochromatosis 42
Classic Hemochromatosis 19
Hemochromatosis Classic 19
Genetic Hemochromatosis 42
Primary Hemochromatosis 42
Pigmentary Cirrhosis 42
Bronzed Cirrhosis 42
Hemochromatosis 1 73
Bronze Cirrhosis 71
Diabetes Bronze 11
Hfe 57
Hc 42

Characteristics:


Inheritance:

Hemochromatosis, Type 1: Autosomal recessive 57
Symptomatic Form of Hemochromatosis Type 1: Autosomal recessive 58

Age Of Onset:

Symptomatic Form of Hemochromatosis Type 1: Adult 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
affects between 1 in 200 to 1 in 400 individuals of northern european descent


Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


Summaries for Hemochromatosis, Type 1

MedlinePlus Genetics: 42 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.Early symptoms of hereditary hemochromatosis may include extreme tiredness (fatigue), joint pain, abdominal pain, weight loss, and loss of sex drive. As the condition worsens, affected individuals may develop arthritis, liver disease (cirrhosis) or liver cancer, diabetes, heart abnormalities, or skin discoloration. The appearance and severity of symptoms can be affected by environmental and lifestyle factors such as the amount of iron in the diet, alcohol use, and infections.There are four types of hereditary hemochromatosis, which are classified depending on the age of onset and other factors such as genetic cause and mode of inheritance.Type 1, the most common form of the disorder, and type 4 (also called ferroportin disease) begin in adulthood. Men with type 1 or type 4 hemochromatosis typically develop symptoms between the ages of 40 and 60, and women usually develop symptoms after menopause.Type 2 hemochromatosis is known as a juvenile-onset disorder because symptoms often begin in childhood. By age 20, iron accumulation causes decreased or absent secretion of sex hormones. Affected females usually begin menstruation normally but menses stop after a few years. Males may experience delayed puberty or symptoms related to a shortage of sex hormones. If type 2 hemochromatosis is untreated, potentially fatal heart disease becomes evident by age 30.The onset of type 3 hemochromatosis is usually intermediate between types 1 and 2 with symptoms generally beginning before age 30.

MalaCards based summary: Hemochromatosis, Type 1, also known as hemochromatosis, is related to hemochromatosis, type 4 and hemochromatosis, type 3, 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 inorganic cations/anions and amino acids/oligopeptides and Glucose / Energy Metabolism. The drugs Iron and Deferiprone have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and pancreas, and related phenotypes are elevated transferrin saturation and increased circulating ferritin concentration

GARD: 19 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. Hemochromatosis may be hereditary, meaning it is caused by genetic changes (genetic changes or pathogenic variants) to any of several genes including FTH1, HAMP, HFE, HFE2 (also known as HJV), SLC40A1, and TFR2. 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.

MedlinePlus: 41 Hemochromatosis is a disease in which too much iron builds up in your body. Your body needs iron but too much of it is toxic. If you have hemochromatosis, you absorb more iron than you need. Your body has no natural way to get rid of the extra iron. It stores it in body tissues, especially the liver, heart, and pancreas. The extra iron can damage your organs. Without treatment, it can cause your organs to fail. There are two types of hemochromatosis. Primary hemochromatosis is an inherited disease. Secondary hemochromatosis is usually the result of something else, such as anemia, thalassemia, liver disease, or blood transfusions. Many symptoms of hemochromatosis are similar to those of other diseases. Not everyone has symptoms. If you do, you may have joint pain, fatigue, general weakness, weight loss, and stomach pain. Your doctor will diagnose hemochromatosis based on your medical and family histories, a physical exam, and the results from tests and procedures. Treatments include removing blood (and iron) from your body, medicines, and changes in your diet. NIH: National Heart, Lung, and Blood Institute

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) (Updated 08-Dec-2022)

PubMed Health : 63 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.

Orphanet: 58 Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus.

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology 11 Hemochromatosis type 1: A hemochromatosis that has material basis in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22.

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

Wikipedia 75 Hemochromatosis type 1: Hereditary haemochromatosis type 1 (HFE-related Hemochromatosis) is a genetic disorder characterized by... more...

Hemochromatosis: Iron overload or hemochromatosis (also spelled haemochromatosis in British English) indicates increased... more...

Related Diseases for Hemochromatosis, Type 1

Diseases in the Hfe 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
Rare Hereditary Hemochromatosis

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

(show top 50) (show all 796)
# Related Disease Score Top Affiliating Genes
1 hemochromatosis, type 4 33.8 TFRC TFR2 SLC40A1 SLC11A2 HJV HFE
2 hemochromatosis, type 3 33.6 TFRC TFR2 SLC40A1 SLC11A2 LOC113687175 HJV
3 hemochromatosis, type 2b 33.4 TFR2 HJV HFE HAMP FTL
4 hemochromatosis, type 5 33.1 TFR2 HJV HFE FTL
5 iron overload in africa 33.1 TFR2 TF SLC40A1 SLC11A2 HJV HFE
6 hemochromatosis type 2 32.7 TFRC TFR2 SLC40A1 SLC11A2 IREB2 HJV
7 iron overload 32.6 UROD TFR2 TF SLC40A1 SLC11A2 HJV
8 tfr2-related hereditary hemochromatosis 32.6 TFR2 LOC113687175
9 hfe hemochromatosis 32.6 TF HFE
10 porphyria cutanea tarda 32.5 UROD TFRC TFR2 TF SLC40A1 HJV
11 anemia, congenital dyserythropoietic, type ia 32.4 TFRC HJV HAMP
12 metal metabolism disorder 32.1 UROD TFRC TFR2 SLC40A1 SLC11A2 IREB2
13 beta-thalassemia intermedia 32.1 TFRC TFR2 HJV HFE HAMP
14 autosomal dominant beta thalassemia 32.0 TFR2 HJV HFE HAMP
15 acute porphyria 32.0 UROD IREB2 HFE HAMP ACO1
16 deficiency anemia 31.9 TFRC TFR2 TF SLC40A1 SLC11A2 IREB2
17 arthropathy 31.9 HJV HFE HAMP FTL BMP2
18 siderosis 31.9 UROD TFRC TF SLC40A1 HFE HAMP
19 hemosiderosis 31.8 TFRC TFR2 TF SLC40A1 SLC11A2 HJV
20 porphyria 31.8 UROD TFRC TFR2 SLC40A1 HJV HFE
21 thalassemia 31.8 TFRC TFR2 TF SLC40A1 HJV HFE
22 beta-thalassemia 31.7 TFRC TFR2 TF IREB2 HJV HFE
23 coproporphyria, hereditary 31.4 UROD HFE
24 iron deficiency anemia 31.4 TFRC TFR2 TF SLC40A1 SLC11A2 IREB2
25 sideroblastic anemia 31.3 UROD TFRC TFR2 SLC40A1 HJV HFE
26 beta-thalassemia major 31.3 TFRC TFR2 SLC40A1 SLC11A2 HJV HFE
27 hemolytic anemia 31.3 TFRC TF HFE HAMP CP
28 anemia, sideroblastic, 1 31.2 TFRC TFR2 SLC40A1 SLC11A2 IREB2 HJV
29 aceruloplasminemia 31.1 TFRC TFR2 SLC40A1 SLC11A2 IREB2 HJV
30 microvascular complications of diabetes 7 31.1 HFE-AS1 HFE
31 alzheimer disease, familial, 1 31.1 TF SLC11A2 IREB2 HFE-AS1 HFE CP
32 transferrin serum level quantitative trait locus 2 31.1 HFE-AS1 HFE
33 variegate porphyria 31.1 UROD HFE-AS1 HFE
34 hereditary spherocytosis 31.1 TFRC HFE HAMP
35 alpha-1-antitrypsin deficiency 31.0 IREB2 HFE HAMP
36 porphyria cutanea tarda, type i 31.0 UROD HFE
37 atransferrinemia 30.8 TFRC TFR2 TF SLC40A1 SLC11A2 HJV
38 hypochromic microcytic anemia 30.8 TFRC TF SLC40A1 SLC11A2 HJV HAMP
39 iron metabolism disease 30.8 TFRC TFR2 TF SLC40A1 SLC11A2 IREB2
40 cataract 30.8 TF IREB2 HFE FTL CP ACO1
41 hyperferritinemia with or without cataract 30.7 TFR2 TF SLC40A1 SLC11A2 IREB2 HJV
42 restless legs syndrome 30.7 TFRC SLC11A2 IREB2 HAMP FTL ACO1
43 hemoglobinopathy 30.7 TFRC TFR2 TF HFE HAMP
44 familial porphyria cutanea tarda 30.6 UROD HFE-AS1 HFE
45 friedreich ataxia 30.5 TFRC IREB2 HFE FXN FTL ACO1
46 neurodegeneration with brain iron accumulation 1 30.4 SLC11A2 FTL CP
47 microcytic anemia 30.4 TFRC TFR2 TF SLC40A1 SLC11A2 IREB2
48 neurodegeneration with brain iron accumulation 30.4 TFRC TFR2 SLC40A1 SLC11A2 IREB2 HFE
49 nutritional deficiency disease 30.3 TFRC TF SLC11A2 HJV HAMP CP
50 neurodegeneration with brain iron accumulation 3 30.3 SLC11A2 IREB2 FXN FTL CP ACO1

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



Diseases related to Hemochromatosis, Type 1

Symptoms & Phenotypes for Hemochromatosis, Type 1

Human phenotypes related to Hemochromatosis, Type 1:

58 30 (show top 50) (show all 56)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 elevated transferrin saturation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012463
2 increased circulating ferritin concentration 30 Hallmark (90%) HP:0003281
3 hepatomegaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0002240
4 fatigue 58 30 Frequent (33%) Frequent (79-30%)
HP:0012378
5 decreased muscle mass 58 30 Frequent (33%) Frequent (79-30%)
HP:0003199
6 abdominal pain 58 30 Frequent (33%) Frequent (79-30%)
HP:0002027
7 arthropathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0003040
8 hyperglycemia 58 30 Frequent (33%) Frequent (79-30%)
HP:0003074
9 generalized bronze hyperpigmentation 58 30 Frequent (33%) Frequent (79-30%)
HP:0007574
10 diabetes mellitus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000819
11 hypothyroidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000821
12 muscle weakness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001324
13 splenomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001744
14 arthritis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001369
15 portal hypertension 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001409
16 cardiomegaly 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001640
17 congestive heart failure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001635
18 osteoporosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000939
19 cirrhosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001394
20 arthralgia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002829
21 joint swelling 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001386
22 peripheral neuropathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0009830
23 weight loss 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001824
24 testicular atrophy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000029
25 gynecomastia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000771
26 erectile dysfunction 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100639
27 infertility 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000789
28 lethargy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001254
29 cardiomyopathy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001638
30 chronic hepatic failure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0100626
31 amenorrhea 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000141
32 hepatocellular carcinoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001402
33 stiff interphalangeal joints 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005198
34 elevated jugular venous pressure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030848
35 hypogonadotropic hypogonadism 30 Occasional (7.5%) HP:0000044
36 decreased serum testosterone concentration 30 Occasional (7.5%) HP:0040171
37 abnormal metacarpophalangeal joint morphology 30 Occasional (7.5%) HP:0011911
38 arrhythmia 58 30 Very rare (1%) Very rare (<4-1%)
HP:0011675
39 apathy 58 30 Very rare (1%) Very rare (<4-1%)
HP:0000741
40 cholangiocarcinoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0030153
41 hyperpigmentation of the skin 58 30 Very frequent (99-80%)
HP:0000953
42 joint stiffness 58 Occasional (29-5%)
43 ascites 30 HP:0001541
44 glucose intolerance 30 HP:0001952
45 elevated hepatic transaminase 30 HP:0002910
46 alopecia 30 HP:0001596
47 hypogonadotrophic hypogonadism 58 Occasional (29-5%)
48 abnormality of iron homeostasis 58 Very frequent (99-80%)
49 azoospermia 30 HP:0000027
50 impotence 30 HP:0000802

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Endocrine Features:
diabetes mellitus
hypogonadotropic hypogonadism
abnormal glucose tolerance

Abdomen Liver:
hepatomegaly
cirrhosis
hepatocellular carcinoma

Abdomen:
ascites
abdominal pain

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

Cardiovascular Heart:
cardiomegaly
congestive heart failure
arrhythmia
cardiomyopathy

Skeletal:
osteoporosis
arthropathy

Genitourinary External Genitalia Male:
azoospermia
testicular atrophy
impotence

Respiratory Lung:
pleural effusion

Skin Nails Hair Skin:
hyperpigmentation
telangiectases

Clinical features from OMIM®:

235200 (Updated 08-Dec-2022)

UMLS symptoms related to Hemochromatosis, Type 1:


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

MGI Mouse Phenotypes related to Hemochromatosis, Type 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.32 ACO1 BMP2 BMP6 CP CYBRD1 FTL
2 nervous system MP:0003631 10.25 BMP2 BMP6 CP FTL FXN HEPH
3 liver/biliary system MP:0005370 10.22 CP CYBRD1 FTL HAMP HEPH HFE
4 cardiovascular system MP:0005385 10.07 BMP2 BMP6 CP FTL FXN HEPH
5 normal MP:0002873 10.06 ACO1 BMP2 HEPH HFE HJV IREB2
6 immune system MP:0005387 9.97 BMP2 CP FTL FXN HAMP HEPH
7 digestive/alimentary MP:0005381 9.92 BMP2 BMP6 HEPH HFE IREB2 SLC40A1
8 hematopoietic system MP:0005397 9.83 ACO1 BMP2 BMP6 CP FTL HAMP
9 mortality/aging MP:0010768 9.44 ACO1 BMP2 FTL FXN HAMP HFE

Drugs & Therapeutics for Hemochromatosis, Type 1

PubMed Health 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 levels Preventing or delaying organ damage from iron overload Treating complications of the disease Maintaining 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 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 4 7439-89-6 29936
2
Deferiprone Approved Phase 4 30652-11-0 2972
3
Deferasirox Approved, Investigational Phase 4 201530-41-8 214348 5493381
4
Deferoxamine Approved, Investigational Phase 4 70-51-9 2973
5 Iron Chelating Agents Phase 4
6 Chelating Agents Phase 4
7
Hydroxyurea Approved Phase 3 127-07-1 3657
8 Liver Extracts Phase 3
9 Anti-Infective Agents Phase 2
10 Hepcidins Phase 2
11 Chrysarobin Phase 2
12 Antirheumatic Agents Phase 2
13 Interleukin 1 Receptor Antagonist Protein Phase 2
14 Pharmaceutical Solutions Phase 2
15
Nifedipine Approved Phase 1 21829-25-4 4485
16
Calcium polycarbophil Approved Phase 1 126040-58-2
17 Hormones Phase 1
18 Vasodilator Agents Phase 1
19 Calcium, Dietary Phase 1
20 calcium channel blockers Phase 1
21 Tocolytic Agents Phase 1
22 Gastrointestinal Agents Phase 1
23 Cathartics Phase 1
24 Laxatives Phase 1
25 Psyllium Phase 1
26
Calcium Nutraceutical Phase 1 7440-70-2 271
27
Pantoprazole Approved 102625-70-7, 138786-67-1 4679
28
Tacrolimus Approved, Investigational 104987-11-3 6473866 445643
29
Ethanol Approved 64-17-5 702
30
Pancrelipase Approved, Investigational 53608-75-6 8519
31 Kava Approved, Investigational, Nutraceutical 9000-38-8
32
Aspartic acid Approved, Nutraceutical 56-84-8 5960
33
Trichostatin A Experimental 58880-19-6 5562 444732
34 Anti-Ulcer Agents
35 Antacids
36 Proton Pump Inhibitors
37 Iron Supplement
38 Calcineurin Inhibitors
39 Immunosuppressive Agents
40 Immunologic Factors
41
bilirubin 635-65-4 5280352
42 N-Methylaspartate
43 Pancreatin
44
D-Alanine Experimental, Nutraceutical 302-72-7, 338-69-2, 56-41-7 101757026 602 71080 5950

Interventional clinical trials:

(show top 50) (show all 62)
# Name Status NCT ID Phase Drugs
1 Pilot Pharmacokinetic Study In Patients With Inadequate Response To Deferasirox (Exjade) Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
2 A Single-arm, Open-label Study of the Palatability and Tolerability of Deferasirox Taken With Meals, With Different Liquids or Crushed and Added to Food Completed NCT00845871 Phase 4 deferasirox:
3 Randomized Trial Comparing the Relative Efficacy of Deferiprone to That of Deferoxamine in Removing Excess Cardiac Iron in Thalassemia Major Patients Completed NCT00105495 Phase 4 Ferriprox (deferiprone);Desferal (deferoxamine)
4 1-year Extension to CICL670A2402 an Open-label, Multi-center Trial of the Efficacy and Safety of Long-term Treatment With Deferasirox (10 to 20 mg/kg/Day) in Beta-thalassemia Patients With Transfusional Hemosiderosis (Study Amended to 2- Year Duration) Completed NCT00171301 Phase 4 Deferasirox
5 A Single-arm Interventional Phase IV, Post-authorisation Study Evaluating the Safety of Pediatric Patients With Transfusional Hemosiderosis Treated With Deferasirox Crushed Film Coated Tablets Completed NCT03372083 Phase 4 Deferasirox
6 Erythrocytapheresis Versus Phlebotomy as Maintenance Therapy in Patients With Hereditary Hemochromatosis; a Randomised, Single Blinded Sequential, Cross-over Trial Unknown status NCT01398644 Phase 3
7 A Prospective Randomized Comparative Study of Efficacy and Safety of Combined Deferiprone (DFP) and Deferasirox Versus DFP and Desferrioxamine (DFO) Therapy in Diseases With Severe Iron Overload Unknown status NCT01511848 Phase 2, Phase 3 DFP (ferriprox) and deferasirox (ICL 670);DFP, DFO
8 Clinical Management of Hereditary Hemochromatosis: Phlebotomy vs. Erythrocytoapheresis Completed NCT00440986 Phase 2, Phase 3
9 Therapeutic Erythrocytapheresis as Treatment for Hemochromatosis Patients. Completed NCT00202436 Phase 3
10 Randomized Open-label Phase III Study With Deferiprone and/or Desferrioxamine in Iron Overloaded Patients Completed NCT00350662 Phase 3 Deferiprone (L1);Desferrioxamine
11 Open Label, Multicenter Study to Evaluate Safety/Tolerability and Efficacy of Deferasirox (ICL670) in Myelodysplastic Syndrome Patients With Chronic Transfusional Hemosiderosis. Completed NCT00469560 Phase 3 Deferasirox
12 A Study of Efficacy and Safety of Long-term Treatment With Deferasirox in Patients With Beta-thalassemia and Transfusional Hemosiderosis Completed NCT00171171 Phase 3 deferasirox
13 Stroke With Transfusions Changing to Hydroxyurea Terminated NCT00122980 Phase 3 Hydroxyurea
14 Clinical Importance of Treating Iron Overload in Sickle Cell Disease Terminated NCT00981370 Phase 3 deferasirox
15 A Phase I/II Open Label, Dose Escalation Trial and a Six Month Extension to Explore the Safety and Efficacy of ICL670 in Patients With Iron Overload Resulting From Hereditary Hemochromatosis. Completed NCT00395629 Phase 1, Phase 2 Deferasirox (ICL670)
16 Open-label Study of PTG-300 in Subjects With Hereditary Hemochromatosis Completed NCT04202965 Phase 2 PTG-300
17 A Phase 2, Multi-Center, Randomized, Placebo Controlled, Single-Blind Study With LJPC-401 for the Treatment of Iron Overload in Adult Patients With Hereditary Hemochromatosis Completed NCT03395704 Phase 2 LJPC-401;Placebo
18 Evaluation of Subcutaneous Desferrioxamine as Treatment for Transfusional Hemochromatosis Completed NCT00000595 Phase 2 deferoxamine
19 Prospective, Comparative (5 Groups), Non-randomized, Multicenter, Physiopathological Study, Evaluating Pharmacokinetic Characteristics of Serum Hepcidin Level in Response to Iron Oral Intake in Order to Evaluate Their Interest to Discriminate Patients With Dysmetabolic Hepatosiderosis or Ferroportin Disease. Completed NCT01949467 Phase 2 iron fumarate
20 Retrospective and Prospective Multicenter Study Using Deferiprone (L1) Alone or in Combination With Desferrioxamine for the Treatment of Iron Overload in Transfusion-dependent Patients Completed NCT00349453 Phase 2 Deferiprone (L1);Desferrioxamine
21 A Multi-Center, Open-label, Non Comparative, Phase II Trial on Efficacy and Safety of ICL670 Given for 1 Year With Dose Adjustments Based on Serum Ferritin in Patients With Chronic Anemia and Transfusional Hemosiderosis Including an Additional 1 Year Extension. Completed NCT00631163 Phase 2 Deferasirox (ICL670)
22 Extension Study of Iron Chelation Therapy With Deferasirox in β-thalassemia and Other Patients With Rare Chronic Anemia and Transfusional Iron Overload Completed NCT00303329 Phase 2 Deferasirox
23 A Multicenter, Randomized, Open-label Phase II Trial Evaluating Deferasirox Compared With Deferoxamine in Patients With Cardiac Iron Overload Due to Chronic Blood Transfusions Completed NCT00600938 Phase 2 Core Study: Deferasirox;Core Study: Deferoxamine;Extension: deferoxamine to deferasirox;Extension: deferasirox to deferoxamine;Deferasirox;Deferoxamine
24 Studies of Phlebotomy Therapy in Hereditary Hemochromatosis Recruiting NCT00007150 Phase 2
25 A Phase II, Multicenter, Open-label, Randomized Two-year Study to Evaluate the Efficacy and Safety of Deferasirox Film-coated Tablet Versus Phlebotomy in Patients With Hereditary Hemochromatosis. Active, not recruiting NCT03203850 Phase 2 Deferasirox FCT
26 Treatment of Refractory Hemochromatosis Rheumatism by Anakinra: a Preliminary Phase II Study Terminated NCT02263638 Phase 2 Anakinra
27 Deferasirox Versus Venesection in Patients With Hemochromatosis and for Treatment of Transfusional Siderosis in Myelodysplastic Syndrome: Diagnostics and New Biomarkers. Terminated NCT01892644 Phase 2 Deferasirox
28 A Trial of Oral Nifedipine for the Treatment of Iron Overload Completed NCT00712738 Phase 1 Nifedipine
29 A Phase Ia/Ib Randomized, Double-Blind, Placebo-Controlled, Single and Multiple Ascending Dose Study to Evaluate the Safety, Tolerability and Pharmacodynamics of BBI-001 in Iron Deficient Volunteers and HH Patients Recruiting NCT05238207 Phase 1 BBI-001
30 Therapeutic Effect of Erythrocyte Apheresis as Compared to Full Blood Phlebotomy in Patients With Hereditary Hemochromatosis Unknown status NCT00509652
31 Proton Pump Inhibitors in the Prevention of Iron Reaccumulation in Patient With Hereditary Hemochromatosis Unknown status NCT01524757 Pantoprazole
32 Implications for Quality of Life and Quality of Care in Patients With Hereditary Haemochromatosis Unknown status NCT01991925
33 Sun Yat-sen Memorial Hospital Unknown status NCT02985346 Early Phase 1
34 Study of the Association Between Transferrin Saturation and Asthenia in Hemochromatosis Completed NCT03356548
35 Respiratory Variations in Diameters of the Inferior Vena Cava and the Internal Jugular Vein to Assess Blood Withdrawal in Patients With Genetic Hemochromatosis Completed NCT03066414
36 Clinical Course of Patients With Transfusional Hemochromatosis on Deferoxamine Completed NCT00001203
37 Characterization of Cardiac Function in Subjects With Hereditary Hemochromatosis Who Are New York Heart Association Functional Class I Completed NCT00068159
38 Hemochromatosis and Iron Overload Screening Study (HEIRS) Completed NCT00005541
39 Hemochromatosis--Genetic Prevalence and Penetrance Completed NCT00006312
40 Statistical Basis for Hemochromatosis Screening Completed NCT00005559
41 Testing the Efficacy of a Natural Polyphenol Supplement to Inhibit Dietary Iron Absorption in Subjects With Hereditary Hemochromatosis: a Stable Isotope Study Completed NCT03990181
42 Impact of Bloodletting on Iron Metabolism in Type 1 Hemochromatosis: Pathophysiological and Clinical Implications. Pilot Study. Completed NCT01810965
43 HEPFER-Evaluation of a New Phenotypic Biological Marker in Genetic Type 1 Hemochromatosis Completed NCT01784939
44 Bone Status on Patients With Genetic Hemochromatosis : a 3 Years Descriptive and Evolutionary Study. Completed NCT01556360
45 Estimation of Myocardial Iron Overload by 3 Tesla MRI and Cardiac Functional Consequences in Patients With HFE Hereditary Haemochromatosis. Pilot Study Completed NCT02099214
46 Study of the Cellular Diffusion of Tacrolimus Across the Membrane of Mononuclear Cells Completed NCT03654794
47 Iron Overload in African Americans Completed NCT00001455
48 Research Network for Neonatal Diseases Induced by Tissular Fetomaternal Alloimmunization Completed NCT00199628
49 Haemochromatosis and Periodontitis Completed NCT04006249
50 Evaluation of a New MR Pulse Sequence to Quantify Liver Iron Concentration Completed NCT00587535

Search NIH Clinical Center for Hemochromatosis, Type 1

Inferred drug relations via UMLS 71 / NDF-RT 50 :


deferoxamine mesylate

Cochrane evidence based reviews: hemochromatosis

Genetic Tests for Hemochromatosis, Type 1

Genetic tests related to Hemochromatosis, Type 1:

# Genetic test Affiliating Genes
1 Hemochromatosis Type 1 28 BMP2 HFE
2 Hereditary Hemochromatosis 28
3 Hfe Hemochromatosis, Modifier of 28

Anatomical Context for Hemochromatosis, Type 1

Organs/tissues related to Hemochromatosis, Type 1:

MalaCards : Liver, Heart, Pancreas, Skin, Lung, Bone, Ovary
ODiseA: Testis, Liver, Heart-Atrium, Ovary, Heart-Ventricle, Heart, Respiratory System-Lung, Respiratory System, Skin

Publications for Hemochromatosis, Type 1

Articles related to Hemochromatosis, Type 1:

(show top 50) (show all 8673)
# Title Authors PMID Year
1
Diagnosis of hemochromatosis in family members of probands: a comparison of phenotyping and HFE genotyping. 53 62 57 5
11336458 1999
2
The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype. 62 57 5
15254010 2004
3
Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. 62 57 5
12915468 2003
4
The significance of the 187G (H63D) mutation in hemochromatosis. 62 57 5
9326341 1997
5
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. 62 57 5
9106528 1997
6
Haemochromatosis and HLA-H. 62 57 5
8896550 1996
7
Haemochromatosis and HLA-H. 62 57 5
8896549 1996
8
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. 62 57 5
8696333 1996
9
Proliferative retinopathy in a patient with diabetes mellitus and idiopathic haemochromatosis. 62 57 5
678784 1978
10
Targeted disruption of the HFE gene. 57 5
9482831 1998
11
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. 53 62 5
19084217 2009
12
Defective trafficking and localization of mutated transferrin receptor 2: implications for type 3 hereditary hemochromatosis. 53 62 5
18094142 2008
13
Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance. 53 62 57
17847004 2007
14
Definition of C282Y mutation in a hereditary hemochromatosis family from Turkey. 53 62 5
17450498 2007
15
Hemochromatosis (HFE) gene splice site mutation IVS5+1 G/A in North American Vietnamese with and without phenotypic evidence of iron overload. 53 62 5
17240320 2007
16
Hemochromatosis and severe iron overload associated with compound heterozygosity for TFR2 R455Q and two novel mutations TFR2 R396X and G792R. 53 62 5
16424658 2006
17
Initial screening transferrin saturation values, serum ferritin concentrations, and HFE genotypes in Native Americans and whites in the Hemochromatosis and Iron Overload Screening Study. 53 62 57
16451136 2006
18
The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein. 53 62 5
15965644 2005
19
HIV-1 Nef down-regulates the hemochromatosis protein HFE, manipulating cellular iron homeostasis. 53 62 57
16043695 2005
20
Association of porphyria cutanea tarda with hereditary hemochromatosis. 53 62 5
15280838 2004
21
Hemochromatosis mutations in the general population: iron overload progression rate. 53 62 5
15070663 2004
22
Duodenal cytochrome b and hephaestin expression in patients with iron deficiency and hemochromatosis. 53 62 57
12949720 2003
23
Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect. 53 62 5
12737937 2003
24
Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis. 53 62 57
12150153 2002
25
A previously undescribed nonsense mutation of the HFE gene. 53 62 5
11903354 2002
26
Recent advances in disorders of iron metabolism: mutations, mechanisms and modifiers. 53 62 57
11673399 2001
27
Inheritance of two HFE mutations in African Americans: cases with hemochromatosis phenotypes and estimates of hemochromatosis phenotype frequency. 53 62 57
11478530 2001
28
Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy. 53 62 5
11423500 2001
29
Hemochromatosis-associated morbidity in the United States: an analysis of the National Hospital Discharge Survey, 1979-1997. 53 62 57
11280947 2001
30
Two novel nonsense mutations of HFE gene in five unrelated italian patients with hemochromatosis. 53 62 5
10930379 2000
31
Experimental hemochromatosis due to MHC class I HFE deficiency: immune status and iron metabolism. 53 62 57
10557317 1999
32
Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands. 53 62 5
10575540 1999
33
The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells. 53 62 57
10085150 1999
34
Diagnosis of hemochromatosis. 53 62 57
9867744 1998
35
Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. 53 62 5
9546397 1998
36
Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis. 53 62 57
9371823 1997
37
HLA-H and associated proteins in patients with hemochromatosis. 53 62 57
9234244 1997
38
The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression. 53 62 5
9162021 1997
39
Percent transferrin saturation in segregating hemochromatosis. 53 62 57
2363427 1990
40
Atypical juvenile hereditary hemochromatosis onset with positive pancreatic islet autoantibodies diabetes caused by novel mutations in HAMP and overall clinical management. 62 5
33016646 2020
41
HFE-Related Hemochromatosis in a Chinese Patient: The First Reported Case. 62 5
32153640 2020
42
Hyperferritinemia increases the risk of hyperuricemia in HFE-hereditary hemochromatosis. 62 5
27659401 2017
43
TFR2-related haemochromatosis in the Netherlands: a cause of arthralgia in young adulthood. 62 5
28276324 2017
44
Rare HFE variants are the most frequent cause of hemochromatosis in non-c282y homozygous patients with hemochromatosis. 62 5
27518069 2016
45
Highly accurate molecular genetic testing for HFE hereditary hemochromatosis: results from 10 years of blinded proficiency surveys by the College of American Pathologists. 62 5
27124787 2016
46
Haemochromatosis. 62 5
26975792 2016
47
EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH). 62 5
26153218 2016
48
Transferrin receptor 2 mutations in patients with juvenile hemochromatosis phenotype. 62 5
26408288 2015
49
Compound heterozygous C282Y/Q283P and Q283P/H63D mutations in haemochromatosis. 62 5
25850353 2015
50
Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network. 62 5
26365338 2015

Variations for Hemochromatosis, Type 1

ClinVar genetic disease variations for Hemochromatosis, Type 1:

5 (show top 50) (show all 607)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TFR2 NM_003227.4(TFR2):c.2236dup (p.Asp746fs) DUP Pathogenic
1072553 GRCh37: 7:100218649-100218650
GRCh38: 7:100621026-100621027
2 TFR2 NC_000007.14:g.(?_100640680)_(100641515_?)del DEL Pathogenic
583971 GRCh37: 7:100238303-100239138
GRCh38: 7:100640680-100641515
3 TFR2 NM_003227.4(TFR2):c.484del (p.Leu162fs) DEL Pathogenic
1425195 GRCh37: 7:100231169-100231169
GRCh38: 7:100633546-100633546
4 TFR2 NM_003227.4(TFR2):c.745del (p.His249fs) DEL Pathogenic
1403018 GRCh37: 7:100230728-100230728
GRCh38: 7:100633105-100633105
5 TFR2 NM_003227.4(TFR2):c.34C>T (p.Gln12Ter) SNV Pathogenic
1431727 GRCh37: 7:100238851-100238851
GRCh38: 7:100641228-100641228
6 LOC113687175, TFR2 NM_003227.4(TFR2):c.2018G>A (p.Trp673Ter) SNV Pathogenic
1453795 GRCh37: 7:100224504-100224504
GRCh38: 7:100626881-100626881
7 TFR2 NM_003227.4(TFR2):c.1156_1157insA (p.Gly386fs) INSERT Pathogenic
1456967 GRCh37: 7:100228625-100228626
GRCh38: 7:100631002-100631003
8 TFR2 NM_003227.4(TFR2):c.318del (p.Ser107fs) DEL Pathogenic
1355498 GRCh37: 7:100238464-100238464
GRCh38: 7:100640841-100640841
9 TFR2 NM_003227.4(TFR2):c.63del (p.Val22fs) DEL Pathogenic
1370639 GRCh37: 7:100238822-100238822
GRCh38: 7:100641199-100641199
10 TFR2 NM_003227.4(TFR2):c.2227_2228del (p.Ala743fs) MICROSAT Pathogenic
1440812 GRCh37: 7:100218658-100218659
GRCh38: 7:100621035-100621036
11 TFR2 NM_003227.4(TFR2):c.960T>G (p.Tyr320Ter) SNV Pathogenic
1452584 GRCh37: 7:100229711-100229711
GRCh38: 7:100632088-100632088
12 TFR2 NM_003227.4(TFR2):c.1938C>A (p.Tyr646Ter) SNV Pathogenic
1436409 GRCh37: 7:100224944-100224944
GRCh38: 7:100627321-100627321
13 TFR2 NM_003227.4(TFR2):c.1746del (p.Val583fs) DEL Pathogenic
581375 rs1562838535 GRCh37: 7:100225221-100225221
GRCh38: 7:100627598-100627598
14 TFR2 NM_003227.4(TFR2):c.1163del (p.Pro388fs) DEL Pathogenic
850883 rs1422733588 GRCh37: 7:100228619-100228619
GRCh38: 7:100630996-100630996
15 TFR2 NM_003227.4(TFR2):c.1811dup (p.Tyr604Ter) DUP Pathogenic
857035 rs1803297757 GRCh37: 7:100225070-100225071
GRCh38: 7:100627447-100627448
16 TFR2 NM_003227.4(TFR2):c.1115_1116del (p.Lys372fs) DEL Pathogenic
947527 rs1803418157 GRCh37: 7:100228666-100228667
GRCh38: 7:100631043-100631044
17 TFR2 NM_003227.4(TFR2):c.1156_1157dup (p.Ser387fs) DUP Pathogenic
1070467 GRCh37: 7:100228624-100228625
GRCh38: 7:100631001-100631002
18 LOC113687175, TFR2 NM_003227.4(TFR2):c.2084C>A (p.Ser695Ter) SNV Pathogenic
1073275 GRCh37: 7:100224438-100224438
GRCh38: 7:100626815-100626815
19 TFR2 NM_003227.4(TFR2):c.862C>T (p.Gln288Ter) SNV Pathogenic
1073644 GRCh37: 7:100229809-100229809
GRCh38: 7:100632186-100632186
20 TFR2 NM_003227.4(TFR2):c.1638_1639del (p.Leu546_Tyr547insTer) MICROSAT Pathogenic
1074157 GRCh37: 7:100225410-100225411
GRCh38: 7:100627787-100627788
21 TFR2 NM_003227.4(TFR2):c.1398del (p.Arg468fs) DEL Pathogenic
461197 rs773050231 GRCh37: 7:100225922-100225922
GRCh38: 7:100628299-100628299
22 TFR2 NM_003227.4(TFR2):c.1870C>T (p.Gln624Ter) SNV Pathogenic
582071 rs1220336558 GRCh37: 7:100225012-100225012
GRCh38: 7:100627389-100627389
23 TFR2 NM_003227.4(TFR2):c.401_402dup (p.Leu135fs) DUP Pathogenic
652249 rs1388444100 GRCh37: 7:100238379-100238380
GRCh38: 7:100640756-100640757
24 LOC113687175, TFR2 NM_003227.4(TFR2):c.2014C>T (p.Gln672Ter) SNV Pathogenic
632495 rs1051249273 GRCh37: 7:100224508-100224508
GRCh38: 7:100626885-100626885
25 TFR2 NC_000007.14:g.(?_100640676)_(100641519_?)del DEL Pathogenic
831039 GRCh37: 7:100238299-100239142
GRCh38:
26 LOC113687175, TFR2 NM_003227.4(TFR2):c.2025C>G (p.Tyr675Ter) SNV Pathogenic
839335 rs1405776096 GRCh37: 7:100224497-100224497
GRCh38: 7:100626874-100626874
27 TFR2 NM_003227.4(TFR2):c.405_406del (p.Tyr136fs) MICROSAT Pathogenic
1072555 GRCh37: 7:100238376-100238377
GRCh38: 7:100640753-100640754
28 LOC113687175, TFR2 NM_003227.4(TFR2):c.2095_2096del (p.Asp699fs) MICROSAT Pathogenic
1075084 GRCh37: 7:100224426-100224427
GRCh38: 7:100626803-100626804
29 TFR2 NM_003227.4(TFR2):c.661G>T (p.Gly221Ter) SNV Pathogenic
1076276 GRCh37: 7:100230917-100230917
GRCh38: 7:100633294-100633294
30 TFR2 NM_003227.4(TFR2):c.1629del (p.Gln544fs) DEL Pathogenic
834979 rs749211542 GRCh37: 7:100225420-100225420
GRCh38: 7:100627797-100627797
31 TFR2 NM_003227.4(TFR2):c.1606-2A>G SNV Pathogenic
570407 rs750609759 GRCh37: 7:100225445-100225445
GRCh38: 7:100627822-100627822
32 TFR2 NM_003227.4(TFR2):c.1409G>T (p.Ser470Ile) SNV Pathogenic
577309 rs772104483 GRCh37: 7:100225911-100225911
GRCh38: 7:100628288-100628288
33 LOC113687175, TFR2 NM_003227.4(TFR2):c.2038dup (p.Asp680fs) DUP Pathogenic
854136 rs1562837669 GRCh37: 7:100224483-100224484
GRCh38: 7:100626860-100626861
34 LOC113687175, TFR2 NM_003227.4(TFR2):c.2128_2132del (p.Ile710fs) DEL Pathogenic
961267 rs765525417 GRCh37: 7:100224390-100224394
GRCh38: 7:100626767-100626771
35 TFR2 NM_003227.4(TFR2):c.253del (p.Leu85fs) DEL Pathogenic
461198 rs1426704853 GRCh37: 7:100238632-100238632
GRCh38: 7:100641009-100641009
36 TFR2 NM_003227.4(TFR2):c.33+1del DEL Pathogenic
1389891 GRCh37: 7:100239099-100239099
GRCh38: 7:100641476-100641476
37 LOC113687175, TFR2 NM_003227.4(TFR2):c.2136+1G>A SNV Pathogenic
1405162 GRCh37: 7:100224385-100224385
GRCh38: 7:100626762-100626762
38 LOC113687175, TFR2 NM_003227.4(TFR2):c.2092A>T (p.Arg698Ter) SNV Pathogenic
1417753 GRCh37: 7:100224430-100224430
GRCh38: 7:100626807-100626807
39 TFR2 NM_003227.4(TFR2):c.1186C>T (p.Arg396Ter) SNV Pathogenic
21362 rs80338882 GRCh37: 7:100228596-100228596
GRCh38: 7:100630973-100630973
40 TFR2 NM_003227.4(TFR2):c.88dup (p.Arg30fs) DUP Pathogenic
5381 rs80338877 GRCh37: 7:100238796-100238797
GRCh38: 7:100641173-100641174
41 TFR2 NM_003227.4(TFR2):c.313C>T (p.Arg105Ter) SNV Pathogenic
21375 rs80338878 GRCh37: 7:100238469-100238469
GRCh38: 7:100640846-100640846
42 HJV NM_213653.4(HJV):c.963C>A (p.Cys321Ter) SNV Pathogenic
2371 rs121434374 GRCh37: 1:145416618-145416618
GRCh38: 1:146018395-146018395
43 SLC40A1 NM_014585.6(SLC40A1):c.430A>G (p.Asn144Asp) SNV Pathogenic
801843 rs104893662 GRCh37: 2:190436525-190436525
GRCh38: 2:189571799-189571799
44 LOC113687175, TFR2 NM_003227.4(TFR2):c.2101C>T (p.Arg701Ter) SNV Pathogenic
Pathogenic
802342 rs946552921 GRCh37: 7:100224421-100224421
GRCh38: 7:100626798-100626798
45 HFE NM_000410.4(HFE):c.314T>C (p.Ile105Thr) SNV Pathogenic
Uncertain Significance
12 rs28934596 GRCh37: 6:26091306-26091306
GRCh38: 6:26091078-26091078
46 HFE NM_000410.4(HFE):c.277G>C (p.Gly93Arg) SNV Pathogenic
13 rs28934597 GRCh37: 6:26091269-26091269
GRCh38: 6:26091041-26091041
47 HFE NM_000410.4(HFE):c.381A>C (p.Gln127His) SNV Pathogenic
17 rs28934595 GRCh37: 6:26091582-26091582
GRCh38: 6:26091354-26091354
48 HFE NM_000410.4(HFE):c.989G>T (p.Arg330Met) SNV Pathogenic
18 rs111033558 GRCh37: 6:26093443-26093443
GRCh38: 6:26093215-26093215
49 HFE NM_000410.4(HFE):c.848A>C (p.Gln283Pro) SNV Pathogenic
Pathogenic
19 rs111033563 GRCh37: 6:26093144-26093144
GRCh38: 6:26092916-26092916
50 HFE NM_000410.4(HFE):c.480del (p.Arg161fs) DEL Pathogenic
1072713 GRCh37: 6:26091679-26091679
GRCh38: 6:26091451-26091451

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

73 (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

Expression for Hemochromatosis, Type 1

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

Pathways for Hemochromatosis, Type 1



Pathways directly related to Hemochromatosis, Type 1:

# Pathway Source
1 Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages) Reactome 66
2 Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum) Reactome 66

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.17 ACO1 CP CYBRD1 FTL HEPH HFE
2 12.28 SLC11A2 IREB2 CP ACO1
3
Show member pathways
12.22 SLC40A1 SLC11A2 HEPH CP
4
Show member pathways
11.79 SLC40A1 SLC11A2 HEPH CP
5
Show member pathways
11.63 TFRC TFR2 TF SLC40A1 SLC11A2 IREB2
6 11.56 TFRC TF SLC40A1 HFE HAMP
7 11.45 TFRC TF CP
8 11.31 TFRC TF SLC40A1 SLC11A2 IREB2 FTL
9 10.47 HJV HFE HAMP BMP6
10 10.46 TFR2 SLC40A1 SLC11A2 IREB2 ACO1
11
Show member pathways
10.03 SLC40A1 CP

GO Terms for Hemochromatosis, Type 1

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

# Name GO ID Score Top Affiliating Genes
1 recycling endosome GO:0055037 9.86 TFRC TF SLC11A2 HFE
2 BMP receptor complex GO:0070724 9.46 HJV BMP2
3 basal part of cell GO:0045178 9.43 TF SLC11A2 HFE
4 HFE-transferrin receptor complex GO:1990712 9.32 TFRC TFR2 TF HJV HFE

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 cellular iron ion homeostasis GO:0006879 10.36 TFRC TFR2 TF SLC40A1 SLC11A2 IREB2
2 iron ion homeostasis GO:0055072 10.32 HFE HEPH HAMP FXN FTL CYBRD1
3 establishment of localization in cell GO:0051649 10.11 SLC40A1 SLC11A2 IREB2 HAMP
4 BMP signaling pathway GO:0030509 10.1 HJV HFE BMP6 BMP2
5 SMAD protein signal transduction GO:0060395 10.08 TF BMP6 BMP2
6 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 10.07 HFE BMP6 BMP2
7 monoatomic ion transport GO:0006811 10.06 CP FXN HEPH HFE SLC11A2 SLC40A1
8 acute-phase response GO:0006953 10.03 TFRC TFR2 HAMP
9 cellular response to BMP stimulus GO:0071773 10.02 HJV BMP6 BMP2
10 multicellular organismal iron ion homeostasis GO:0060586 10.02 SLC40A1 SLC11A2 HFE HAMP BMP6
11 osteoclast differentiation GO:0030316 10.01 TFRC TF IREB2 BMP2
12 heme biosynthetic process GO:0006783 9.99 UROD SLC11A2 FXN
13 cellular response to iron ion GO:0071281 9.97 BMP6 HFE TF TFR2
14 copper ion transport GO:0006825 9.95 SLC11A2 HEPH CP
15 protoporphyrinogen IX biosynthetic process GO:0006782 9.92 UROD IREB2
16 positive regulation of peptide hormone secretion GO:0090277 9.92 TFR2 HFE
17 transferrin transport GO:0033572 9.91 TFRC TFR2
18 iron ion transmembrane transport GO:0034755 9.91 SLC40A1 SLC11A2 HAMP
19 citrate metabolic process GO:0006101 9.88 IREB2 ACO1
20 regulation of iron ion transport GO:0034756 9.84 HFE TF
21 response to iron ion starvation GO:1990641 9.83 HAMP HFE
22 response to iron ion GO:0010039 9.83 TFRC TFR2 SLC11A2 HFE HAMP FXN
23 porphyrin-containing compound metabolic process GO:0006778 9.76 SLC11A2 UROD
24 porphyrin-containing compound biosynthetic process GO:0006779 9.6 UROD SLC11A2
25 iron ion transport GO:0006826 9.55 TFRC TFR2 TF SLC40A1 SLC11A2 IREB2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 9.99 HEPH HAMP CP
2 iron ion transmembrane transporter activity GO:0005381 9.8 SLC40A1 SLC11A2
3 co-receptor binding GO:0039706 9.8 BMP2 HFE TFR2
4 ferrous iron transmembrane transporter activity GO:0015093 9.78 SLC40A1 SLC11A2
5 iron chaperone activity GO:0034986 9.76 TF FXN
6 iron-responsive element binding GO:0030350 9.73 IREB2 ACO1
7 transferrin receptor binding GO:1990459 9.73 TF HJV HFE
8 aconitate hydratase activity GO:0003994 9.71 IREB2 ACO1
9 transferrin receptor activity GO:0004998 9.67 TFRC TFR2
10 ferric iron binding GO:0008199 9.63 TF FXN FTL
11 ferroxidase activity GO:0004322 9.43 HEPH FXN CP
12 ferrous iron binding GO:0008198 9.23 TF HEPH FXN FTL

Sources for Hemochromatosis, Type 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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