HFE1
MCID: HMC039
MIFTS: 73

Hemochromatosis, Type 1 (HFE1)

Categories: Cardiovascular diseases, Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hemochromatosis, Type 1

MalaCards integrated aliases for Hemochromatosis, Type 1:

Name: Hemochromatosis, Type 1 57 40 72
Hemochromatosis 57 12 75 53 25 37 13 55 43 44 15 63 40 17 72
Hemochromatosis Type 1 12 75 24 53 74 29 6 15
Hereditary Hemochromatosis 75 25 74 29 55 6 72
Hfe1 57 12 74
Hh 57 25 74
Symptomatic Form of Hfe-Related Hereditary Hemochromatosis 12 59
Symptomatic Form of Classic Hemochromatosis 12 59
Symptomatic Form of Hemochromatosis Type 1 12 59
Hfe Hemochromatosis, Modifier of 57 29
Hemochromatosis, Hereditary 57 75
Iron Storage Disorder 12 25
Haemochromatosis 12 25
Hlah 25 74
Hfe-Associated Hereditary Hemochromatosis 53
Von Recklenhausen-Applebaum Disease 25
Primary Hereditary Hemochromatosis 74
Troisier-Hanot-Chauffard Syndrome 25
Hemochromatosis, Hereditary; Hh 57
Hfe-Associated Hemochromatosis 24
Hereditary Haemochromatosis 25
Familial Hemochromatosis 25
Classic Hemochromatosis 53
Hemochromatosis Classic 53
Genetic Hemochromatosis 25
Primary Hemochromatosis 25
Hemochromatosis; Hfe 57
Pigmentary Cirrhosis 25
Hfe Hemochromatosis 24
Bronzed Cirrhosis 25
Hemochromatosis 1 74
Bronze Cirrhosis 72
Diabetes Bronze 12
Bronze Diabetes 25
Hfe-Hh 24
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


GeneReviews:

24
Penetrance Penetrance of hfe hemochromatosis refers to the percentage of adults (men and women separately) homozygous or compound heterozygous for hfe pathogenic variants who exhibit either clinical or biochemical hemochromatosis:...

Classifications:



External Ids:

Disease Ontology 12 DOID:0111029 DOID:2352
KEGG 37 H00211
MeSH 44 D006432
NCIt 50 C84481
SNOMED-CT 68 86781004
ICD10 via Orphanet 34 E83.1
Orphanet 59 ORPHA465508
UMLS 72 C0018995 C0392514 C1442995 more

Summaries for Hemochromatosis, Type 1

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. 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 iron overload in africa 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 glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Insulin receptor recycling. The drugs Omeprazole and Deferiprone have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and testes, and related phenotypes are fatigue and hypogonadism

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

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.

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

KEGG : 37
Hereditary hemochromatosis (HFE) is an autosomal recessive iron metabolism disorder characterized by increased intestinal iron absorption, which leads to progressive accumulation of iron in the body.

UniProtKB/Swiss-Prot : 74 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 : 75 Hereditary haemochromatosis (or hemochromatosis) is a genetic disorder characterized by excessive... more...

GeneReviews: NBK1440

Related Diseases for Hemochromatosis, Type 1

Diseases in the Rare Hereditary Hemochromatosis family:

Hemochromatosis, Type 1 Hemochromatosis, Type 2a
Hemochromatosis, Type 3 Hemochromatosis, Type 4
Hemochromatosis, Type 2b Hemochromatosis, Type 5
Hemochromatosis Type 2 Juvenile Hereditary Hemochromatosis

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

(show top 50) (show all 816)
# Related Disease Score Top Affiliating Genes
1 iron overload in africa 33.4 TFRC TFR2 TF SLC40A1 HFE HEPH
2 hemochromatosis, type 3 32.6 TFR2 SLC40A1 HJV HFE HAMP
3 rhizomelic chondrodysplasia punctata, type 2 32.6 UROD HFE HAMP
4 hemochromatosis, type 4 32.4 TFR2 TF SLC40A1 HJV HFE HAMP
5 hemochromatosis type 2 32.4 TFR2 TF SLC40A1 HJV HFE HAMP
6 porphyria 31.5 UROD TF HFE
7 metal metabolism disorder 31.5 TFRC TFR2 TF SLC40A1 SLC11A2 HJV
8 atransferrinemia 31.4 TFRC TFR2 TF SLC40A1 SLC11A2 HJV
9 thalassemia 31.2 TFRC TF HFE
10 hemochromatosis, type 2a 31.2 HJV HAMP
11 porphyria cutanea tarda, type i 31.1 UROD HFE
12 porphyria cutanea tarda 31.1 UROD TFRC TF HFE HAMP
13 beta-thalassemia 31.0 TFRC TFR2 TF HFE
14 familial porphyria cutanea tarda 31.0 UROD HFE
15 hyperferritinemia with or without cataract 30.8 TF HFE FTL
16 hypochromic microcytic anemia 30.8 TF SLC11A2 CP
17 friedreich ataxia 1 30.7 TFRC FXN ACO1
18 wilson disease 30.7 TF HFE CP
19 siderosis 30.6 UROD TFRC TF SLC40A1 HFE
20 atrial standstill 1 30.6 HJV HFE FXN
21 anemia, sideroblastic, 1 30.6 TFRC HAMP ACO1
22 hemoglobinopathy 30.6 TF HFE HAMP
23 iron deficiency anemia 30.5 TFRC TFR2 TF SLC40A1 SLC11A2 HJV
24 inherited metabolic disorder 30.4 TFR2 TF HJV HFE HAMP
25 microcytic anemia 30.2 TFRC TF SLC11A2 IREB2 ACO1
26 acquired polycythemia 30.1 TF ACO1
27 folic acid deficiency anemia 29.9 TFRC TF
28 aceruloplasminemia 29.8 TFR2 TF HJV HFE HEPH HAMP
29 hemosiderosis 29.7 TFRC TF SLC40A1 SLC11A2 HFE HAMP
30 iron metabolism disease 29.6 TFRC TFR2 TF SLC40A1 SLC11A2 IREB2
31 deficiency anemia 29.3 TFRC TFR2 TF SLC40A1 SLC11A2 HJV
32 hemochromatosis, type 2b 12.7
33 tfr2-related hereditary hemochromatosis 12.3
34 tumoral calcinosis, hyperphosphatemic, familial, 1 12.0
35 hypotrichosis 1 12.0
36 hajdu-cheney syndrome 11.9
37 holocarboxylase synthetase deficiency 11.9
38 hypogonadotropic hypogonadism 7 with or without anosmia 11.8
39 dyskeratosis congenita, x-linked 11.8
40 hypotonia-cystinuria syndrome 11.8
41 heart-hand syndrome, slovenian type 11.7
42 hemicrania continua 11.6
43 anemia, congenital dyserythropoietic, type ia 11.6
44 hepatocellular carcinoma 11.5
45 hypogonadotropic hypogonadism 11.5
46 breast cancer 11.5
47 hemophilic arthropathy 11.5
48 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 11.4
49 hypogonadotropic hypogonadism 15 with or without anosmia 11.4
50 hypothalamic hamartomas 11.3

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:

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

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

Genitourinary Internal Genitalia Female:
amenorrhea

Respiratory Lung:
pleural effusion

Abdomen Spleen:
splenomegaly

Skeletal:
osteoporosis
arthropathy

Abdomen:
ascites
abdominal pain

Genitourinary External Genitalia Male:
testicular atrophy
azoospermia
impotence

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

Skin Nails Hair Skin:
hyperpigmentation
telangiectases

Clinical features from OMIM:

235200

UMLS symptoms related to Hemochromatosis, Type 1:


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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 ACO1 B2M BMP2 CP CYBRD1 FTL

MGI Mouse Phenotypes related to Hemochromatosis, Type 1:

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 B2M BMP2 CP HEPH HFE HJV
3 cardiovascular system MP:0005385 10.2 B2M BMP2 CP CYBRD1 FXN HEPH
4 immune system MP:0005387 10.13 B2M BMP2 CP FXN HEPH HFE
5 liver/biliary system MP:0005370 10.03 B2M CP CYBRD1 HEPH HFE HJV
6 digestive/alimentary MP:0005381 9.98 B2M BMP2 HEPH HFE IREB2 SLC40A1
7 mortality/aging MP:0010768 9.93 ACO1 B2M BMP2 FXN HFE HJV
8 nervous system MP:0003631 9.65 B2M BMP2 CP FXN HEPH HFE
9 normal MP:0002873 9.23 ACO1 BMP2 HEPH HFE HJV IREB2

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 levelsPreventing or delaying organ damage from iron overloadTreating complications of the diseaseMaintaining a normal amount of iron in your body for the rest of your life

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

(show top 50) (show all 114)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
2
Deferiprone Approved Phase 4 30652-11-0 2972
3
Deferoxamine Approved, Investigational Phase 4 70-51-9 2973
4
Sorafenib Approved, Investigational Phase 4 284461-73-0 216239 406563
5
Ornithine Approved, Nutraceutical Phase 4 70-26-8, 3184-13-2 6262
6
Aspartic acid Approved, Nutraceutical Phase 4 56-84-8 5960
7 Antacids Phase 4
8 Proton Pump Inhibitors Phase 4
9 Anti-Ulcer Agents Phase 4
10 Liver Extracts Phase 4
11 Pharmaceutical Solutions Phase 4
12 Siderophores Phase 4
13 N-Methylaspartate Phase 4
14 Neurotransmitter Agents Phase 4
15 Excitatory Amino Acids Phase 4
16 Excitatory Amino Acid Agonists Phase 4
17 Protein Kinase Inhibitors Phase 4
18
Terlipressin Approved, Investigational Phase 3 14636-12-5 72081
19
tannic acid Approved Phase 3 1401-55-4
20
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
21
Hydroxyurea Approved Phase 3 127-07-1 3657
22 Nutrients Phase 3
23 Micronutrients Phase 3
24 Trace Elements Phase 3
25 Anti-Infective Agents Phase 3
26 Anti-Bacterial Agents Phase 3
27 Antibiotics, Antitubercular Phase 3
28 Vitamins Phase 3
29 Vasoconstrictor Agents Phase 3
30 Antiviral Agents Phase 3
31 Antihypertensive Agents Phase 3
32 diuretics Phase 3
33 Natriuretic Agents Phase 3
34 Antitubercular Agents Phase 3
35 Nucleic Acid Synthesis Inhibitors Phase 3
36
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
37
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
38
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
39
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
40
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
41
Ethanol Approved Phase 2 64-17-5 702
42
Disulfiram Approved Phase 2 97-77-8 3117
43
Copper Approved, Investigational Phase 2 7440-50-8 27099
44
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
45
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 6221 5280795
46
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
47
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
48
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
49
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 2 59-43-8, 70-16-6 1130
50
Vitamin C Approved, Nutraceutical Phase 2 50-81-7 54670067 5785

Interventional clinical trials:

(show top 50) (show all 89)
# 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 Phase IV Study of the Use of Sequential DFP-DFO Versus DFP in Thalassemia Major Patients Completed NCT00733811 Phase 4 Deferiprone (DFP) and Deferoxamine (DFO);Deferiprone (DFP)
3 Pilot Pharmacokinetic Study In Patients With Inadequate Response To Deferasirox (Exjade) Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
4 Efficacy of Intravenous 'L-ornithine L-aspartate' in Reversal of Overt Acute Hepatic Encephalopathy in Patients With Liver Cirrhosis: a Prospective, Randomized, Double-blind, Placebo Controlled Trial Completed NCT01722578 Phase 4 L-ornithine L-aspartate;Placebo
5 Mechanism of Sorafenib Resistance in Patients With Advanced Hepatocellular Carcinoma Recruiting NCT02733809 Phase 4 Sorafenib
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 Clinical Management of Hereditary Hemochromatosis: Phlebotomy vs. Erythrocytoapheresis Completed NCT00440986 Phase 2, Phase 3
8 Therapeutic Erythrocytapheresis as Treatment for Hemochromatosis Patients. Completed NCT00202436 Phase 3
9 Screening of Hepatocellular Carcinoma in Patients With Compensated Cirrhosis. A Randomized Trial Comparing Two Periodicities of Ultrasonographic Surveillance: 3-month vs 6-month Completed NCT00190385 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 RECURRENCE RATE OF HEPATOCELLULAR CARCINOMA AFTER TREATMENT OF CHRONIC HEPATITIS C PATIENTS WITH DIRECT ACTING ANTIVIRALS: RANDOMIZED CONTROLLED PHASE 3 TRIAL (CAUTIOUS TRIAL) Recruiting NCT03551444 Phase 3 Administration of DAA-based treatment
12 Comparison of Bovine Colostrum Versus Placebo in Treatment of Severe Alcoholic Hepatitis: A Randomized Double Blind Controlled Trial Recruiting NCT02473341 Phase 3 Bovine Colostrum;Placebo
13 Influence of Iron Depletion by Phlebotomy on the Risk of Hepatocellular Carcinoma Occurrence in Patients With Compensated Alcoholic Cirrhosis. Prospective, Multicentre, Randomized Trial Terminated NCT01342705 Phase 3
14 Stroke With Transfusions Changing to Hydroxyurea Terminated NCT00122980 Phase 3 Hydroxyurea
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 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
17 A Phase II Trial of the Safety and Efficacy of Iron Reduction by Phlebotomy in Recipients of Hematopoietic Stem Cell Transplants Completed NCT00689182 Phase 2
18 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);Deferiprone (L1);Desferrioxamine
19 Evaluation of Subcutaneous Desferrioxamine as Treatment for Transfusional Hemochromatosis Completed NCT00000595 Phase 2 deferoxamine
20 Efficacy of Combination Therapy of Glucocorticoids, and Bovine Colostrum in Treatment of Severe Alcoholic Hepatitis: A Pilot Study. Completed NCT02265328 Phase 2
21 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. Recruiting NCT03203850 Phase 2 Deferasirox FCT
22 Phase II Open Labeled Trial of Disulfiram With Copper in Metastatic Breast Cancer Recruiting NCT03323346 Phase 2 Disulfiram
23 Open Label Trial of Therapeutic Vaccine in Patients With Cholangiocarcinoma Recruiting NCT03042182 Phase 1, Phase 2
24 Phase 2 Study of Deferasirox-calcium-vitamin D3 to Treat Postmenopausal Osteoporosis (PMOP) Recruiting NCT02854722 Phase 2 Deferasirox and calcium-vitamin D3;Calcium-vitamin D3
25 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 Active, not recruiting NCT03395704 Phase 2 LJPC-401;Placebo
26 Early High-dose Vitamin C in Post-cardiac Arrest Syndrome Not yet recruiting NCT03509662 Phase 2 Vitamin C;Thiamine;Placebos
27 Treatment of Refractory Hemochromatosis Rheumatism by Anakinra: a Preliminary Phase II Study Terminated NCT02263638 Phase 2 Anakinra
28 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;Deferasirox
29 Phase 1 Study of Intrahepatic Reinfusion of Highly Purified CD133+ Stem Cells in Patients With End-Stage Liver Disease Unknown status NCT01025622 Phase 1
30 A Trial of Oral Nifedipine for the Treatment of Iron Overload Completed NCT00712738 Phase 1 Nifedipine
31 Implications for Quality of Life and Quality of Care in Patients With Hereditary Haemochromatosis Unknown status NCT01991925
32 Therapeutic Effect of Erythrocyte Apheresis as Compared to Full Blood Phlebotomy in Patients With Hereditary Hemochromatosis Unknown status NCT00509652
33 Proton Pump Inhibitors in the Prevention of Iron Reaccumulation in Patient With Hereditary Hemochromatosis Unknown status NCT01524757 Pantoprazole
34 Utility of Transient Elastography (Fibroscan) in Estimating Hepatic Iron Concentration in Comparison to MRI in Patients With Transfusion Dependent Hemoglobinopathies Unknown status NCT02067130
35 The Metabolic Profile and Adipocytokine Alterations of Patients With HCV Infection Before and After HCV Therapy" Unknown status NCT01360268
36 Assessment of Iron Deposition in Major Organs of Hemodialysis Patients, Using T2*MRI and Novel Biomarkers of Free Iron Species Unknown status NCT01169961
37 Serial HBV DNA Levels During Pregnancy in Patients With Chronic Hepatitis B: a Prospective Observational Follow-up Study Unknown status NCT01610115
38 Prevalence and Clinical Characteristics of the Patients With Liver Cirrhosis and Different Glucose Metabolism Disorders - A Prospective Study. Unknown status NCT01396954
39 Estimation of Myocardial Iron Overload by 3 Tesla MRI and Cardiac Functional Consequences in Patients With HFE Hereditary Haemochromatosis. Pilot Study Completed NCT02099214
40 Mi-Iron - Moderately Increased Iron - is Reducing Iron Overload Necessary? Completed NCT01631708
41 Bone Status on Patients With Genetic Hemochromatosis : a 3 Years Descriptive and Evolutionary Study. Completed NCT01556360
42 HEPFER-Evaluation of a New Phenotypic Biological Marker in Genetic Type 1 Hemochromatosis Completed NCT01784939
43 Hemochromatosis and Iron Overload Screening Study (HEIRS) Completed NCT00005541
44 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
45 Statistical Basis for Hemochromatosis Screening Completed NCT00005559
46 Impact of Host Iron Status and Iron Supplement Use on Growth and Viability of the Erythrocytic Stage of Plasmodium Falciparum Completed NCT01027663
47 Hemochromatosis--Genetic Prevalence and Penetrance Completed NCT00006312
48 Non-invasive Quantification of Liver Iron With MRI Completed NCT01516853
49 Study of the Association Between Transferrin Saturation and Asthenia in Hemochromatosis Completed NCT03356548
50 Haemochromatosis and Periodontitis Completed NCT04006249

Search NIH Clinical Center for Hemochromatosis, Type 1

Inferred drug relations via UMLS 72 / NDF-RT 51 :


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 29 BMP2 HFE
2 Hereditary Hemochromatosis 29
3 Hfe Hemochromatosis, Modifier of 29

Anatomical Context for Hemochromatosis, Type 1

MalaCards organs/tissues related to Hemochromatosis, Type 1:

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

Publications for Hemochromatosis, Type 1

Articles related to Hemochromatosis, Type 1:

(show top 50) (show all 6490)
# Title Authors PMID Year
1
Diagnosis of hemochromatosis in family members of probands: a comparison of phenotyping and HFE genotyping. 9 38 8 71
11336458 1999
2
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. 4 8 71
8696333 1996
3
Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. 9 38 4 71
9546397 1998
4
The significance of the 187G (H63D) mutation in hemochromatosis. 38 8 71
9326341 1997
5
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. 38 8 71
9106528 1997
6
The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype. 8 71
15254010 2004
7
Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. 8 71
12915468 2003
8
Disease-related conditions in relatives of patients with hemochromatosis. 38 4 8
11087882 2000
9
Management of hemochromatosis. Hemochromatosis Management Working Group. 38 4 8
9867745 1998
10
Targeted disruption of the HFE gene. 8 71
9482831 1998
11
Clinical and biochemical abnormalities in people heterozygous for hemochromatosis. 38 4 8
8943161 1996
12
Haemochromatosis and HLA-H. 8 71
8896549 1996
13
Haemochromatosis and HLA-H. 8 71
8896550 1996
14
Proliferative retinopathy in a patient with diabetes mellitus and idiopathic haemochromatosis. 8 71
678784 1978
15
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. 9 38 71
19084217 2009
16
Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance. 9 38 8
17847004 2007
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. 9 38 8
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. 9 38 71
15965644 2005
19
HIV-1 Nef down-regulates the hemochromatosis protein HFE, manipulating cellular iron homeostasis. 9 38 8
16043695 2005
20
Association of porphyria cutanea tarda with hereditary hemochromatosis. 9 38 71
15280838 2004
21
Hemochromatosis mutations in the general population: iron overload progression rate. 9 38 71
15070663 2004
22
Duodenal cytochrome b and hephaestin expression in patients with iron deficiency and hemochromatosis. 9 38 8
12949720 2003
23
Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis. 9 38 8
12150153 2002
24
Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA. 4 71
11812557 2002
25
Recent advances in disorders of iron metabolism: mutations, mechanisms and modifiers. 9 38 8
11673399 2001
26
Inheritance of two HFE mutations in African Americans: cases with hemochromatosis phenotypes and estimates of hemochromatosis phenotype frequency. 9 38 8
11478530 2001
27
Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy. 9 38 71
11423500 2001
28
Hemochromatosis-associated morbidity in the United States: an analysis of the National Hospital Discharge Survey, 1979-1997. 9 38 8
11280947 2001
29
Experimental hemochromatosis due to MHC class I HFE deficiency: immune status and iron metabolism. 9 38 8
10557317 1999
30
Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands. 9 38 71
10575540 1999
31
The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells. 9 38 8
10085150 1999
32
Diagnosis of hemochromatosis. 9 38 8
9867744 1998
33
Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis. 9 38 8
9371823 1997
34
HLA-H and associated proteins in patients with hemochromatosis. 9 38 8
9234244 1997
35
The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression. 9 38 71
9162021 1997
36
Percent transferrin saturation in segregating hemochromatosis. 9 38 8
2363427 1990
37
Increased height in HFE hemochromatosis. 38 8
23964954 2013
38
Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome. 38 71
19796184 2009
39
Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype. 38 8
18809761 2008
40
Prevalence, characteristics, and prognostic significance of HFE gene mutations in type 2 diabetes: the Fremantle Diabetes Study. 38 71
18566337 2008
41
Iron-overload-related disease in HFE hereditary hemochromatosis. 38 71
18504828 2008
42
Iron-overload-related disease in HFE hereditary hemochromatosis. 38 71
18499578 2008
43
Iron-overload-related disease in HFE hereditary hemochromatosis. 9 38 4
18199861 2008
44
Ca2+ channel blockers reverse iron overload by a new mechanism via divalent metal transporter-1. 38 8
17293870 2007
45
Frequency of the hemochromatosis gene mutations in the population of Serbia and Montenegro. 38 71
16879202 2006
46
Screening for hemochromatosis: recommendation statement. 38 71
16880462 2006
47
Prevalence of HFE C282Y and H63D in Jewish populations and clinical implications of H63D homozygosity. 38 8
16433696 2006
48
HJV gene mutations in European patients with juvenile hemochromatosis. 38 71
15811010 2005
49
Hypogonadism in hereditary hemochromatosis. 38 8
15657376 2005
50
Pathogenesis of hereditary hemochromatosis. 9 38 4
15464654 2004

Variations for Hemochromatosis, Type 1

ClinVar genetic disease variations for Hemochromatosis, Type 1:

6 (show top 50) (show all 164)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TFR2 NM_003227.4(TFR2): c.253del (p.Leu85fs) deletion Pathogenic rs1426704853 7:100238632-100238632 7:100641009-100641009
2 HFE NM_000410.3(HFE): c.187C> G (p.His63Asp) single nucleotide variant Pathogenic rs1799945 6:26091179-26091179 6:26090951-26090951
3 HFE NM_000410.3(HFE): c.314T> C (p.Ile105Thr) single nucleotide variant Pathogenic rs28934596 6:26091306-26091306 6:26091078-26091078
4 HFE NM_000410.3(HFE): c.277G> C (p.Gly93Arg) single nucleotide variant Pathogenic rs28934597 6:26091269-26091269 6:26091041-26091041
5 HFE NM_000410.3(HFE): c.381A> C (p.Gln127His) single nucleotide variant Pathogenic rs28934595 6:26091582-26091582 6:26091354-26091354
6 HFE NM_000410.3(HFE): c.989G> T (p.Arg330Met) single nucleotide variant Pathogenic rs111033558 6:26093443-26093443 6:26093215-26093215
7 HFE NM_000410.3(HFE): c.848A> C (p.Gln283Pro) single nucleotide variant Pathogenic rs111033563 6:26093144-26093144 6:26092916-26092916
8 HAMP NM_021175.4(HAMP): c.216C> A (p.Cys72Ter) single nucleotide variant Pathogenic rs763369315 19:35775906-35775906 19:35285003-35285003
9 HFE NM_000410.3(HFE): c.506G> A (p.Trp169Ter) single nucleotide variant Pathogenic rs797045145 6:26091707-26091707 6:26091479-26091479
10 TFR2 NM_003227.4(TFR2): c.1409G> T (p.Ser470Ile) single nucleotide variant Pathogenic 7:100225911-100225911 7:100628288-100628288
11 TFR2 NM_003227.4(TFR2): c.401_402dup (p.Leu135fs) duplication Pathogenic 7:100238379-100238380 7:100640758-100640759
12 TFR2 NM_003227.4(TFR2): c.1746del (p.Val583fs) deletion Pathogenic 7:100225221-100225221 7:100627598-100627598
13 TFR2 NM_003227.4(TFR2): c.1870C> T (p.Gln624Ter) single nucleotide variant Pathogenic 7:100225012-100225012 7:100627389-100627389
14 TFR2 NC_000007.13: g.(?_100238303)_(100239138_?)del deletion Pathogenic 7:100238303-100239138 7:100640680-100641515
15 HFE NM_000410.3(HFE): c.502G> T (p.Glu168Ter) single nucleotide variant Pathogenic rs146519482 6:26091703-26091703 6:26091475-26091475
16 HJV NM_213653.3(HJV): c.963C> A (p.Cys321Ter) single nucleotide variant Pathogenic rs121434374 1:145416618-145416618 1:146018395-146018395
17 HJV NM_213653.3(HJV): c.959G> T (p.Gly320Val) single nucleotide variant Pathogenic rs74315323 1:145416614-145416614 1:146018399-146018399
18 HFE NM_000410.3(HFE): c.762del (p.Asp255fs) deletion Pathogenic rs1554154042 6:26093058-26093058 6:26092830-26092830
19 TFR2 NM_003227.4(TFR2): c.1398del (p.Arg468fs) deletion Pathogenic rs773050231 7:100225922-100225922 7:100628299-100628299
20 HFE NM_000410.3(HFE): c.546_547del (p.Leu183fs) deletion Pathogenic rs765804978 6:26091747-26091748 6:26091519-26091520
21 HFE NM_000410.3(HFE): c.892G> T (p.Glu298Ter) single nucleotide variant Pathogenic rs749553271 6:26093188-26093188 6:26092960-26092960
22 TFR2 NM_003227.4(TFR2): c.2033G> C (p.Arg678Pro) single nucleotide variant Likely pathogenic rs786204108 7:100224489-100224489 7:100626866-100626866
23 TFR2 NM_003227.4(TFR2): c.1606-2A> G single nucleotide variant Likely pathogenic 7:100225445-100225445 7:100627822-100627822
24 HFE NM_000410.3(HFE): c.77-2_78delinsTGGAGTC indel Likely pathogenic 6:26091067-26091070 6:26090839-26090842
25 TFR2 NM_003227.4(TFR2): c.614+1G> C single nucleotide variant Likely pathogenic 7:100231038-100231038 7:100633415-100633415
26 TFR2 NM_003227.4(TFR2): c.1770C> T (p.Asp590=) single nucleotide variant Conflicting interpretations of pathogenicity rs35704760 7:100225112-100225112 7:100627489-100627489
27 HFE NM_000410.3(HFE): c.845G> A (p.Cys282Tyr) single nucleotide variant Conflicting interpretations of pathogenicity, other rs1800562 6:26093141-26093141 6:26092913-26092913
28 TFR2 NM_003227.4(TFR2): c.2014C> T (p.Gln672Ter) single nucleotide variant Conflicting interpretations of pathogenicity 7:100224508-100224508 7:100626885-100626885
29 TFR2 NM_003227.4(TFR2): c.447G> A (p.Gly149=) single nucleotide variant Conflicting interpretations of pathogenicity rs41302366 7:100238335-100238335 7:100640712-100640712
30 TFR2 NM_003227.4(TFR2): c.849+6T> A single nucleotide variant Conflicting interpretations of pathogenicity rs41303468 7:100230618-100230618 7:100632995-100632995
31 TFR2 NM_003227.4(TFR2): c.2172A> G (p.Pro724=) single nucleotide variant Conflicting interpretations of pathogenicity rs141140309 7:100218714-100218714 7:100621091-100621091
32 HFE NM_000410.3(HFE): c.829G> A (p.Glu277Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs140080192 6:26093125-26093125 6:26092897-26092897
33 TFR2 NM_003227.4(TFR2): c.1449C> T (p.Ser483=) single nucleotide variant Conflicting interpretations of pathogenicity rs41295899 7:100225871-100225871 7:100628248-100628248
34 HFE NM_000410.3(HFE): c.884T> C (p.Val295Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs143175221 6:26093180-26093180 6:26092952-26092952
35 HFE NM_000410.3(HFE): c.766G> A (p.Val256Ile) single nucleotide variant Uncertain significance rs202068193 6:26093062-26093062 6:26092834-26092834
36 HFE NM_000410.3(HFE): c.1010G> T (p.Gly337Val) single nucleotide variant Uncertain significance rs751707198 6:26094417-26094417 6:26094189-26094189
37 HFE NM_000410.3(HFE): c.389A> G (p.Asn130Ser) single nucleotide variant Uncertain significance rs201885016 6:26091590-26091590 6:26091362-26091362
38 HFE NM_000410.3(HFE): c.50C> T (p.Thr17Ile) single nucleotide variant Uncertain significance rs143662783 6:26087718-26087718 6:26087490-26087490
39 TFR2 NM_003227.4(TFR2): c.1528G> A (p.Ala510Thr) single nucleotide variant Uncertain significance rs200053955 7:100225705-100225705 7:100628082-100628082
40 TFR2 NM_003227.4(TFR2): c.1771G> C (p.Asp591His) single nucleotide variant Uncertain significance rs1060502723 7:100225111-100225111 7:100627488-100627488
41 SLC40A1 NM_014585.5(SLC40A1): c.1570G> A (p.Val524Ile) single nucleotide variant Uncertain significance rs142456282 2:190426750-190426750 2:189562024-189562024
42 SLC40A1 NM_014585.5(SLC40A1): c.*309G> A single nucleotide variant Uncertain significance rs886055360 2:190426295-190426295 2:189561569-189561569
43 SLC40A1 NM_014585.5(SLC40A1): c.-344C> G single nucleotide variant Uncertain significance rs747058400 2:190445530-190445530 2:189580804-189580804
44 HFE NM_000410.3(HFE): c.502G> C (p.Glu168Gln) single nucleotide variant Uncertain significance rs146519482 6:26091703-26091703 6:26091475-26091475
45 HFE NM_000410.3(HFE): c.200G> T (p.Arg67Leu) single nucleotide variant Uncertain significance rs139523708 6:26091192-26091192 6:26090964-26090964
46 HAMP NM_021175.4(HAMP): c.150+6C> T single nucleotide variant Uncertain significance rs375386964 19:35775757-35775757 19:35284854-35284854
47 TFR2 NM_003227.4(TFR2): c.665A> T (p.Glu222Val) single nucleotide variant Uncertain significance rs763919775 7:100230913-100230913 7:100633290-100633290
48 TFR2 NM_003227.4(TFR2): c.2246G> A (p.Arg749Gln) single nucleotide variant Uncertain significance rs369355407 7:100218640-100218640 7:100621017-100621017
49 HAMP NM_021175.4(HAMP): c.218G> A (p.Cys73Tyr) single nucleotide variant Uncertain significance rs863224779 19:35775908-35775908 19:35285005-35285005
50 TFR2 NM_003227.4(TFR2): c.829G> T (p.Val277Leu) single nucleotide variant Uncertain significance rs754813237 7:100230644-100230644 7:100633021-100633021

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.13 TFRC TF SLC40A1 SLC11A2 HEPH FTL
2
Show member pathways
12.31 TFRC TF SLC40A1 SLC11A2 HEPH FTL
3 12.27 SLC11A2 IREB2 CP ACO1
4
Show member pathways
12.11 UROD HEPH FXN CP
5
Show member pathways
11.65 SLC40A1 SLC11A2 HEPH CP
6 11.42 TFRC TF CP
7 11.36 TF SLC40A1 SLC11A2 HEPH FTL CYBRD1
8 11.03 TFRC TF SLC40A1 SLC11A2 FTL CP
9 10.34 HJV HFE HAMP
10 10.3 TFRC TFR2 TF SLC40A1 SLC11A2 IREB2

GO Terms for Hemochromatosis, Type 1

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.91 TFRC TFR2 TF SLC11A2 HFE
2 perinuclear region of cytoplasm GO:0048471 9.88 TFRC TF SLC11A2 HFE HEPH
3 external side of plasma membrane GO:0009897 9.8 TFRC TFR2 HFE B2M
4 cell surface GO:0009986 9.8 TFRC TF SLC11A2 HLA-B HJV BMP2
5 early endosome GO:0005769 9.73 TFRC TF SLC11A2 HFE
6 recycling endosome GO:0055037 9.67 TFRC TF SLC11A2 HFE
7 basal part of cell GO:0045178 9.33 TF SLC11A2 HFE
8 BMP receptor complex GO:0070724 9.32 HJV BMP2
9 MHC class I protein complex GO:0042612 9.26 MR1 HLA-B HFE B2M
10 HFE-transferrin receptor complex GO:1990712 9.1 TFRC TFR2 TF HJV HFE B2M
11 extracellular exosome GO:0070062 10.06 TFRC TF HLA-B FTL CYBRD1 CP
12 extracellular space GO:0005615 10.01 TFRC TF HJV HFE HAMP CP

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

(show all 30)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 9.93 MR1 HLA-B HAMP B2M
2 BMP signaling pathway GO:0030509 9.81 HJV HFE BMP2
3 positive regulation of protein binding GO:0032092 9.79 HFE BMP2 B2M
4 iron ion transport GO:0006826 9.76 TFR2 TF SLC40A1 SLC11A2 IREB2 HEPH
5 acute-phase response GO:0006953 9.74 TFR2 HFE HAMP
6 transferrin transport GO:0033572 9.73 TFRC TFR2 TF HFE
7 response to iron ion GO:0010039 9.73 TFR2 SLC11A2 HFE HAMP FXN CYBRD1
8 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.71 MR1 HLA-B HFE B2M
9 positive regulation of receptor-mediated endocytosis GO:0048260 9.69 TF HFE B2M
10 heme biosynthetic process GO:0006783 9.67 UROD SLC11A2 FXN
11 multicellular organismal iron ion homeostasis GO:0060586 9.67 SLC40A1 SLC11A2 HFE HAMP
12 protein autoprocessing GO:0016540 9.65 HJV FXN
13 iron ion homeostasis GO:0055072 9.65 TFR2 TF SLC40A1 SLC11A2 HJV HFE
14 porphyrin-containing compound biosynthetic process GO:0006779 9.64 UROD SLC11A2
15 protoporphyrinogen IX biosynthetic process GO:0006782 9.63 UROD IREB2
16 copper ion transport GO:0006825 9.63 SLC11A2 HEPH CP
17 positive regulation of peptide hormone secretion GO:0090277 9.62 TFR2 HFE
18 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent GO:0002480 9.62 HLA-B B2M
19 cellular response to iron ion GO:0071281 9.62 TFR2 TF HFE B2M
20 citrate metabolic process GO:0006101 9.61 IREB2 ACO1
21 positive regulation of receptor binding GO:1900122 9.59 HFE B2M
22 negative regulation of receptor binding GO:1900121 9.58 HFE B2M
23 response to iron ion starvation GO:1990641 9.56 HFE HAMP
24 positive regulation of transferrin receptor binding GO:1904437 9.54 HFE B2M
25 positive regulation of ferrous iron binding GO:1904434 9.52 HFE B2M
26 cellular iron ion homeostasis GO:0006879 9.5 TFRC TFR2 TF SLC40A1 SLC11A2 IREB2
27 response to iron(II) ion GO:0010040 9.27 ACO1
28 cellular response to iron(III) ion GO:0071283 9.25 B2M
29 oxidation-reduction process GO:0055114 10.08 HEPH FXN FTL CYBRD1 CP BMP2
30 ion transport GO:0006811 10.02 TF SLC40A1 SLC11A2 HFE HEPH FXN

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 copper ion binding GO:0005507 9.52 HEPH CP
2 iron ion transmembrane transporter activity GO:0005381 9.51 SLC40A1 SLC11A2
3 co-receptor binding GO:0039706 9.5 TFR2 HFE BMP2
4 ferrous iron transmembrane transporter activity GO:0015093 9.49 SLC40A1 SLC11A2
5 aconitate hydratase activity GO:0003994 9.48 IREB2 ACO1
6 transferrin transmembrane transporter activity GO:0033570 9.46 TFRC TFR2
7 transferrin receptor activity GO:0004998 9.43 TFRC TFR2
8 ferric iron binding GO:0008199 9.43 TF FXN FTL
9 iron-responsive element binding GO:0030350 9.4 IREB2 ACO1
10 iron chaperone activity GO:0034986 9.37 TF FXN
11 transferrin receptor binding GO:1990459 9.33 TF HJV HFE
12 ferrous iron binding GO:0008198 9.26 TF HEPH FXN FTL
13 ferroxidase activity GO:0004322 8.92 HEPH FXN FTL CP
14 protein binding GO:0005515 10.47 UROD TFRC TFR2 TF SLC40A1 SLC11A2

Sources for Hemochromatosis, Type 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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