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HFE1
MCID: HMC039
MIFTS: 74

Hemochromatosis, Type 1 (HFE1)

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

Aliases & Classifications for Hemochromatosis, Type 1

About this section

MalaCards integrated aliases for Hemochromatosis, Type 1:

Name: Hemochromatosis, Type 1 56 39 71
Hemochromatosis 56 12 74 52 25 36 13 54 42 43 15 62 39 17 71
Hemochromatosis Type 1 12 74 24 52 73 29 6 15
Hereditary Hemochromatosis 74 25 73 29 54 6 71
Hfe1 56 12 73
Hh 56 25 73
Symptomatic Form of Hfe-Related Hereditary Hemochromatosis 12 58
Symptomatic Form of Classic Hemochromatosis 12 58
Symptomatic Form of Hemochromatosis Type 1 12 58
Hfe Hemochromatosis, Modifier of 56 29
Hemochromatosis, Hereditary 56 74
Iron Storage Disorder 12 25
Haemochromatosis 12 25
Hlah 25 73
Hfe-Associated Hereditary Hemochromatosis 52
Von Recklenhausen-Applebaum Disease 25
Primary Hereditary Hemochromatosis 73
Troisier-Hanot-Chauffard Syndrome 25
Hemochromatosis, Hereditary; Hh 56
Hfe-Associated Hemochromatosis 24
Hereditary Haemochromatosis 25
Familial Hemochromatosis 25
Classic Hemochromatosis 52
Hemochromatosis Classic 52
Genetic Hemochromatosis 25
Primary Hemochromatosis 25
Hemochromatosis; Hfe 56
Pigmentary Cirrhosis 25
Hfe Hemochromatosis 24
Bronzed Cirrhosis 25
Hemochromatosis 1 73
Bronze Cirrhosis 71
Diabetes Bronze 12
Bronze Diabetes 25
Hfe-Hh 24
Hfe 56
Hc 25

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Liver diseases Skin diseases Cardiovascular diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


Sources

Summaries for Hemochromatosis, Type 1

About this section
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 hemochromatosis, type 2b and iron overload in africa, and has symptoms including nausea and vomiting, constipation and abdominal pain. An important gene associated with Hemochromatosis, Type 1 is HFE (Homeostatic Iron Regulator), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Insulin receptor recycling. The drugs Omeprazole and Iron have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and 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 : 52 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 : 56 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 : 42 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 : 36 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 : 73 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 : 62 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 : 74 Hereditary haemochromatosis (or hemochromatosis) is a genetic disorder characterized by excessive... more...

GeneReviews: NBK1440
Sources

Related Diseases for Hemochromatosis, Type 1

About this section

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
Tfr2-Related Hereditary Hemochromatosis

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

(show top 50) (show all 821)
# Related Disease Score Top Affiliating Genes
1 hemochromatosis, type 2b 34.8 HAMP FTL
2 iron overload in africa 34.4 TMPRSS6 TFR2 TF SLC40A1 HJV HFE
3 atransferrinemia 33.3 TMPRSS6 TFRC TFR2 TF SLC40A1 SLC11A2
4 hemochromatosis, type 3 33.1 TMPRSS6 TFRC TFR2 SLC40A1 HJV HFE
5 hemochromatosis, type 4 33.0 TMPRSS6 TFR2 SLC40A1 SLC11A2 HJV HFE
6 hemochromatosis, type 5 33.0 TFR2 IREB2 HJV HFE FTL ACO1
7 hemochromatosis type 2 33.0 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 HJV
8 neurodegeneration with brain iron accumulation 33.0 TFRC TFR2 SLC40A1 SLC11A2 IREB2 HFE
9 acute porphyria 32.5 UROD IREB2 HFE HAMP
10 metal metabolism disorder 32.4 UROD TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2
11 porphyria cutanea tarda 31.7 UROD TFRC TFR2 TF SLC40A1 HJV
12 porphyria 31.7 UROD TFRC TFR2 TF SLC40A1 HJV
13 thalassemia 31.6 TMPRSS6 TFRC TFR2 TF SLC40A1 HJV
14 beta-thalassemia 31.6 TMPRSS6 TFRC TFR2 TF HJV HFE
15 iron deficiency anemia 31.6 TMPRSS6 TFRC TFR2 TF SLC40A1 SLC11A2
16 sideroblastic anemia 31.5 UROD TFRC TFR2 SLC40A1 IREB2 HJV
17 hemochromatosis, type 2a 31.4 TFR2 SLC40A1 HJV HFE HAMP
18 arthropathy 31.3 HJV HFE HAMP B2M
19 iron metabolism disease 31.3 TMPRSS6 TFRC TFR2 TF SLC40A1 SLC11A2
20 siderosis 31.2 UROD TFRC TFR2 TF SLC40A1 HJV
21 aceruloplasminemia 31.2 TFRC TFR2 SLC40A1 SLC11A2 IREB2 HJV
22 congenital dyserythropoietic anemia 31.1 TFRC HFE HAMP
23 friedreich ataxia 31.1 TFRC SLC40A1 SLC11A2 IREB2 HFE HAMP
24 wilson disease 31.1 TFRC SLC11A2 HFE CP
25 hypochromic microcytic anemia 31.1 TMPRSS6 TF SLC11A2 HJV HAMP CP
26 porphyria cutanea tarda, type i 31.1 UROD HFE
27 deficiency anemia 31.0 TMPRSS6 TFRC TFR2 TF SLC40A1 SLC11A2
28 familial porphyria cutanea tarda 31.0 UROD HFE
29 cataract 31.0 IREB2 HFE FTL CP ACO1
30 restless legs syndrome 31.0 TFRC SLC11A2 IREB2 FTL ACO1
31 hyperferritinemia with or without cataract 30.9 TF HFE FTL
32 atrial standstill 1 30.9 HJV HFE FXN
33 microcytic anemia 30.9 TMPRSS6 TFRC TF SLC40A1 SLC11A2 IREB2
34 anemia, sideroblastic, 1 30.9 TFRC TFR2 SLC40A1 SLC11A2 IREB2 HJV
35 hemoglobinopathy 30.8 TFRC TFR2 TF HJV HFE HAMP
36 inherited metabolic disorder 30.8 TFR2 HJV HFE HAMP CP
37 hemosiderosis 30.8 UROD TFRC TFR2 TF SLC40A1 SLC11A2
38 iron-refractory iron deficiency anemia 30.6 TMPRSS6 HJV
39 neurodegeneration with brain iron accumulation 3 30.6 SLC11A2 IREB2 FTL CP ACO1
40 protoporphyria, erythropoietic, 1 30.6 UROD TFRC IREB2 ACO1
41 hemoglobin h disease 30.5 TFRC TF HAMP
42 cutaneous porphyria 30.3 UROD HFE
43 tfr2-related hereditary hemochromatosis 12.3
44 tumoral calcinosis, hyperphosphatemic, familial, 1 12.0
45 hypotrichosis 1 12.0
46 hajdu-cheney syndrome 11.9
47 holocarboxylase synthetase deficiency 11.9
48 hypogonadotropic hypogonadism 7 with or without anosmia 11.8
49 dyskeratosis congenita, x-linked 11.8
50 hypotonia-cystinuria syndrome 11.8

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



Diseases related to Hemochromatosis, Type 1
Sources

Symptoms & Phenotypes for Hemochromatosis, Type 1

About this section

Human phenotypes related to Hemochromatosis, Type 1:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
2 hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000135
3 hyperpigmentation of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000953
4 increased serum ferritin 58 31 hallmark (90%) Very frequent (99-80%) HP:0003281
5 joint dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0001373
6 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
7 arthralgia 58 31 frequent (33%) Frequent (79-30%) HP:0002829
8 limitation of joint mobility 58 31 frequent (33%) Frequent (79-30%) HP:0001376
9 chondrocalcinosis 58 31 frequent (33%) Frequent (79-30%) HP:0000934
10 hepatic steatosis 58 31 frequent (33%) Frequent (79-30%) HP:0001397
11 gynecomastia 58 31 frequent (33%) Frequent (79-30%) HP:0000771
12 impotence 58 31 frequent (33%) Frequent (79-30%) HP:0000802
13 abnormality of the hypothalamus-pituitary axis 58 31 frequent (33%) Frequent (79-30%) HP:0000864
14 arthropathy 58 31 frequent (33%) Frequent (79-30%) HP:0003040
15 diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000819
16 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
17 alopecia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001596
18 retinopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000488
19 osteoporosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000939
20 ascites 58 31 occasional (7.5%) Occasional (29-5%) HP:0001541
21 peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0009830
22 congestive heart failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0001635
23 cirrhosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001394
24 cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001638
25 exocrine pancreatic insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0001738
26 vertigo 58 31 occasional (7.5%) Occasional (29-5%) HP:0002321
27 cholestasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001396
28 hepatocellular carcinoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001402
29 cardiomegaly 31 HP:0001640
30 arrhythmia 31 HP:0011675
31 abdominal pain 31 HP:0002027
32 glucose intolerance 31 HP:0001952
33 elevated hepatic transaminase 31 HP:0002910
34 hypogonadotrophic hypogonadism 31 HP:0000044
35 testicular atrophy 31 HP:0000029
36 azoospermia 31 HP:0000027
37 amenorrhea 31 HP:0000141
38 increased serum iron 31 HP:0003452
39 pleural effusion 31 HP:0002202
40 telangiectasia 31 HP:0001009

Symptoms via clinical synopsis from OMIM:

56
Endocrine Features:
diabetes mellitus
abnormal glucose tolerance
hypogonadotropic hypogonadism

Abdomen Liver:
hepatomegaly
cirrhosis
hepatocellular carcinoma

Skeletal:
osteoporosis
arthropathy

Abdomen:
ascites
abdominal pain

Genitourinary Internal Genitalia Female:
amenorrhea

Respiratory Lung:
pleural effusion

Abdomen Spleen:
splenomegaly

Skin Nails Hair Hair:
alopecia

Cardiovascular Heart:
cardiomegaly
arrhythmia
congestive heart failure
cardiomyopathy

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 Decreased viability GR00221-A-1 10.12 FXN
2 Decreased viability GR00240-S-1 10.12 CYBRD1 TFRC TMPRSS6
3 Decreased viability GR00301-A 10.12 FXN
4 Decreased viability GR00381-A-1 10.12 MR1 TFR2 TMPRSS6 UROD
5 Decreased viability GR00402-S-2 10.12 ACO1 B2M BMP2 CP CYBRD1 FTL
6 no effect GR00402-S-1 9.62 ACO1 B2M BMP2 CP CYBRD1 FTL

MGI Mouse Phenotypes related to Hemochromatosis, Type 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.33 ACO1 B2M BMP2 CP CYBRD1 FXN
2 hematopoietic system MP:0005397 10.28 B2M BMP2 CP HEPH HFE HJV
3 cardiovascular system MP:0005385 10.26 B2M BMP2 CP CYBRD1 FXN HEPH
4 immune system MP:0005387 10.24 B2M BMP2 CP FXN HEPH HFE
5 liver/biliary system MP:0005370 10.07 B2M CP CYBRD1 HEPH HFE HJV
6 digestive/alimentary MP:0005381 10.06 B2M BMP2 HEPH HFE IREB2 SLC40A1
7 mortality/aging MP:0010768 9.97 ACO1 B2M BMP2 FXN HFE HJV
8 integument MP:0010771 9.92 B2M HEPH HJV IREB2 SLC11A2 SLC40A1
9 nervous system MP:0003631 9.7 B2M BMP2 CP FXN HEPH HFE
10 normal MP:0002873 9.23 ACO1 BMP2 HEPH HFE HJV IREB2
Sources

Drugs & Therapeutics for Hemochromatosis, Type 1

About this section

PubMed Health treatment related to Hemochromatosis, Type 1: 62

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 top 50) (show all 110)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
2
Iron Approved, Experimental Phase 4 7439-89-6, 15438-31-0 23925 27284
3
Deferasirox Approved, Investigational Phase 4 201530-41-8 5493381
4
Deferiprone Approved Phase 4 30652-11-0 2972
5
Deferoxamine Approved, Investigational Phase 4 70-51-9 2973
6
Sorafenib Approved, Investigational Phase 4 284461-73-0 216239 406563
7
Ornithine Approved, Nutraceutical Phase 4 70-26-8, 3184-13-2 6262
8
Aspartic acid Approved, Nutraceutical Phase 4 56-84-8 5960
9 Anti-Ulcer Agents Phase 4
10 Proton Pump Inhibitors Phase 4
11 Antacids Phase 4
12 Chelating Agents Phase 4
13 Iron Chelating Agents Phase 4
14 Liver Extracts Phase 4
15 Pharmaceutical Solutions Phase 4
16 Siderophores Phase 4
17 Neurotransmitter Agents Phase 4
18 N-Methylaspartate Phase 4
19 Excitatory Amino Acids Phase 4
20 Excitatory Amino Acid Agonists Phase 4
21 Protein Kinase Inhibitors Phase 4
22
Terlipressin Approved, Investigational Phase 3 14636-12-5 72081
23
tannic acid Approved Phase 3 1401-55-4
24
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
25
Hydroxyurea Approved Phase 3 127-07-1 3657
26 Nutrients Phase 3
27 Trace Elements Phase 3
28 Micronutrients Phase 3
29 Anti-Infective Agents Phase 3
30 Antibiotics, Antitubercular Phase 3
31 Anti-Bacterial Agents Phase 3
32 Vitamins Phase 3
33 Vasoconstrictor Agents Phase 3
34 Antiviral Agents Phase 3
35 Antihypertensive Agents Phase 3
36 Antitubercular Agents Phase 3
37 Natriuretic Agents Phase 3
38 diuretics Phase 3
39
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
40
Methylprednisolone hemisuccinate Approved Phase 2 2921-57-5
41
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
42 Prednisolone acetate Approved, Vet_approved Phase 2 52-21-1
43
Prednisolone phosphate Approved, Vet_approved Phase 2 302-25-0
44
Ethanol Approved Phase 2 64-17-5 702
45
Copper Approved, Investigational Phase 2 7440-50-8 27099
46
Disulfiram Approved Phase 2 97-77-8 3117
47
Calcium Approved, Nutraceutical Phase 2 7440-70-2 271
48
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
49
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
50
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 6221 5280795

Interventional clinical trials:

(show top 50) (show all 91)
# 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 Open-label Study of PTG-300 in Subjects With Hereditary Hemochromatosis Recruiting NCT04202965 Phase 2 PTG-300
23 Phase II Open Labeled Trial of Disulfiram With Copper in Metastatic Breast Cancer Recruiting NCT03323346 Phase 2 Disulfiram
24 Open Label Trial of Therapeutic Vaccine in Patients With Cholangiocarcinoma Recruiting NCT03042182 Phase 1, Phase 2
25 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
26 Early High-dose Vitamin C in Post-cardiac Arrest Syndrome Recruiting NCT03509662 Phase 2 Vitamin C;Thiamine;Placebos
27 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
28 Treatment of Refractory Hemochromatosis Rheumatism by Anakinra: a Preliminary Phase II Study Terminated NCT02263638 Phase 2 Anakinra
29 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
30 Phase 1 Study of Intrahepatic Reinfusion of Highly Purified CD133+ Stem Cells in Patients With End-Stage Liver Disease Unknown status NCT01025622 Phase 1
31 A Trial of Oral Nifedipine for the Treatment of Iron Overload Completed NCT00712738 Phase 1 Nifedipine
32 Implications for Quality of Life and Quality of Care in Patients With Hereditary Haemochromatosis Unknown status NCT01991925
33 Therapeutic Effect of Erythrocyte Apheresis as Compared to Full Blood Phlebotomy in Patients With Hereditary Hemochromatosis Unknown status NCT00509652
34 Proton Pump Inhibitors in the Prevention of Iron Reaccumulation in Patient With Hereditary Hemochromatosis Unknown status NCT01524757 Pantoprazole
35 Utility of Transient Elastography (Fibroscan) in Estimating Hepatic Iron Concentration in Comparison to MRI in Patients With Transfusion Dependent Hemoglobinopathies Unknown status NCT02067130
36 The Metabolic Profile and Adipocytokine Alterations of Patients With HCV Infection Before and After HCV Therapy" Unknown status NCT01360268
37 Assessment of Iron Deposition in Major Organs of Hemodialysis Patients, Using T2*MRI and Novel Biomarkers of Free Iron Species Unknown status NCT01169961
38 Serial HBV DNA Levels During Pregnancy in Patients With Chronic Hepatitis B: a Prospective Observational Follow-up Study Unknown status NCT01610115
39 Prevalence and Clinical Characteristics of the Patients With Liver Cirrhosis and Different Glucose Metabolism Disorders - A Prospective Study. Unknown status NCT01396954
40 Estimation of Myocardial Iron Overload by 3 Tesla MRI and Cardiac Functional Consequences in Patients With HFE Hereditary Haemochromatosis. Pilot Study Completed NCT02099214
41 Mi-Iron - Moderately Increased Iron - is Reducing Iron Overload Necessary? Completed NCT01631708
42 Bone Status on Patients With Genetic Hemochromatosis : a 3 Years Descriptive and Evolutionary Study. Completed NCT01556360
43 HEPFER-Evaluation of a New Phenotypic Biological Marker in Genetic Type 1 Hemochromatosis Completed NCT01784939
44 Hemochromatosis and Iron Overload Screening Study (HEIRS) Completed NCT00005541
45 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
46 Statistical Basis for Hemochromatosis Screening Completed NCT00005559
47 Impact of Host Iron Status and Iron Supplement Use on Growth and Viability of the Erythrocytic Stage of Plasmodium Falciparum Completed NCT01027663
48 Hemochromatosis--Genetic Prevalence and Penetrance Completed NCT00006312
49 Non-invasive Quantification of Liver Iron With MRI Completed NCT01516853
50 Study of the Association Between Transferrin Saturation and Asthenia in Hemochromatosis Completed NCT03356548

Search NIH Clinical Center for Hemochromatosis, Type 1

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


deferoxamine mesylate

Cochrane evidence based reviews: hemochromatosis

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Genetic Tests for Hemochromatosis, Type 1

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Genetic tests related to Hemochromatosis, Type 1:

# Genetic test Affiliating Genes
1 Hemochromatosis Type 1 29 BMP2 HFE
2 Hereditary Hemochromatosis 29
3 Hfe Hemochromatosis, Modifier of 29
Sources

Anatomical Context for Hemochromatosis, Type 1

About this section

MalaCards organs/tissues related to Hemochromatosis, Type 1:

40
Liver, Heart, Testes, Pancreas, Bone, Skin, Lung
Sources

Publications for Hemochromatosis, Type 1

About this section

Articles related to Hemochromatosis, Type 1:

(show top 50) (show all 6547)
# Title Authors PMID Year
1
Diagnosis of hemochromatosis in family members of probands: a comparison of phenotyping and HFE genotyping. 54 61 56 6
11336458 1999
2
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. 24 56 6
8696333 1996
3
Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. 54 61 24 6
9546397 1998
4
The significance of the 187G (H63D) mutation in hemochromatosis. 61 56 6
9326341 1997
5
Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. 61 56 6
9106528 1997
6
The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype. 56 6
15254010 2004
7
Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. 56 6
12915468 2003
8
Disease-related conditions in relatives of patients with hemochromatosis. 61 24 56
11087882 2000
9
Management of hemochromatosis. Hemochromatosis Management Working Group. 61 24 56
9867745 1998
10
Targeted disruption of the HFE gene. 56 6
9482831 1998
11
Clinical and biochemical abnormalities in people heterozygous for hemochromatosis. 61 24 56
8943161 1996
12
Haemochromatosis and HLA-H. 56 6
8896549 1996
13
Haemochromatosis and HLA-H. 56 6
8896550 1996
14
Proliferative retinopathy in a patient with diabetes mellitus and idiopathic haemochromatosis. 56 6
678784 1978
15
Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. 54 61 6
19084217 2009
16
Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance. 54 61 56
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. 54 61 56
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. 54 61 6
15965644 2005
19
HIV-1 Nef down-regulates the hemochromatosis protein HFE, manipulating cellular iron homeostasis. 54 61 56
16043695 2005
20
Association of porphyria cutanea tarda with hereditary hemochromatosis. 54 61 6
15280838 2004
21
Hemochromatosis mutations in the general population: iron overload progression rate. 54 61 6
15070663 2004
22
Duodenal cytochrome b and hephaestin expression in patients with iron deficiency and hemochromatosis. 54 61 56
12949720 2003
23
Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis. 54 61 56
12150153 2002
24
Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA. 24 6
11812557 2002
25
Recent advances in disorders of iron metabolism: mutations, mechanisms and modifiers. 54 61 56
11673399 2001
26
Inheritance of two HFE mutations in African Americans: cases with hemochromatosis phenotypes and estimates of hemochromatosis phenotype frequency. 54 61 56
11478530 2001
27
Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy. 54 61 6
11423500 2001
28
Hemochromatosis-associated morbidity in the United States: an analysis of the National Hospital Discharge Survey, 1979-1997. 54 61 56
11280947 2001
29
Experimental hemochromatosis due to MHC class I HFE deficiency: immune status and iron metabolism. 54 61 56
10557317 1999
30
Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands. 54 61 6
10575540 1999
31
The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells. 54 61 56
10085150 1999
32
Diagnosis of hemochromatosis. 54 61 56
9867744 1998
33
Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis. 54 61 56
9371823 1997
34
HLA-H and associated proteins in patients with hemochromatosis. 54 61 56
9234244 1997
35
The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression. 54 61 6
9162021 1997
36
Percent transferrin saturation in segregating hemochromatosis. 54 61 56
2363427 1990
37
Increased height in HFE hemochromatosis. 61 56
23964954 2013
38
Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome. 61 6
19796184 2009
39
Homozygous deletion of HFE produces a phenotype similar to the HFE p.C282Y/p.C282Y genotype. 61 56
18809761 2008
40
Prevalence, characteristics, and prognostic significance of HFE gene mutations in type 2 diabetes: the Fremantle Diabetes Study. 61 6
18566337 2008
41
Iron-overload-related disease in HFE hereditary hemochromatosis. 61 6
18499578 2008
42
Iron-overload-related disease in HFE hereditary hemochromatosis. 61 6
18504828 2008
43
Iron-overload-related disease in HFE hereditary hemochromatosis. 54 61 24
18199861 2008
44
Ca2+ channel blockers reverse iron overload by a new mechanism via divalent metal transporter-1. 61 56
17293870 2007
45
Frequency of the hemochromatosis gene mutations in the population of Serbia and Montenegro. 61 6
16879202 2006
46
Screening for hemochromatosis: recommendation statement. 61 6
16880462 2006
47
Prevalence of HFE C282Y and H63D in Jewish populations and clinical implications of H63D homozygosity. 61 56
16433696 2006
48
HJV gene mutations in European patients with juvenile hemochromatosis. 61 6
15811010 2005
49
Hypogonadism in hereditary hemochromatosis. 61 56
15657376 2005
50
Pathogenesis of hereditary hemochromatosis. 54 61 24
15464654 2004
Sources

Variations for Hemochromatosis, Type 1

About this section

ClinVar genetic disease variations for Hemochromatosis, Type 1:

6 (show top 50) (show all 149) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HAMP NM_021175.4(HAMP):c.216C>A (p.Cys72Ter)SNV Pathogenic 188077 rs763369315 19:35775906-35775906 19:35285003-35285003
2 HFE NM_000410.3(HFE):c.506G>A (p.Trp169Ter)SNV Pathogenic 208985 rs797045145 6:26091707-26091707 6:26091479-26091479
3 HFE NM_000410.3(HFE):c.314T>C (p.Ile105Thr)SNV Pathogenic 12 rs28934596 6:26091306-26091306 6:26091078-26091078
4 HFE NM_000410.3(HFE):c.277G>C (p.Gly93Arg)SNV Pathogenic 13 rs28934597 6:26091269-26091269 6:26091041-26091041
5 HFE NM_000410.3(HFE):c.381A>C (p.Gln127His)SNV Pathogenic 17 rs28934595 6:26091582-26091582 6:26091354-26091354
6 HFE NM_000410.3(HFE):c.989G>T (p.Arg330Met)SNV Pathogenic 18 rs111033558 6:26093443-26093443 6:26093215-26093215
7 HFE NM_000410.3(HFE):c.848A>C (p.Gln283Pro)SNV Pathogenic 19 rs111033563 6:26093144-26093144 6:26092916-26092916
8 HJV NM_213653.3(HJV):c.959G>T (p.Gly320Val)SNV Pathogenic 2365 rs74315323 1:145416614-145416614 1:146018399-146018399
9 HJV NM_213653.3(HJV):c.963C>A (p.Cys321Ter)SNV Pathogenic 2371 rs121434374 1:145416618-145416618 1:146018395-146018395
10 HFE NM_000410.3(HFE):c.502G>T (p.Glu168Ter)SNV Pathogenic 88946 rs146519482 6:26091703-26091703 6:26091475-26091475
11 HFE NM_000410.3(HFE):c.892G>T (p.Glu298Ter)SNV Pathogenic 407073 rs749553271 6:26093188-26093188 6:26092960-26092960
12 HFE NM_000410.3(HFE):c.546_547del (p.Leu183fs)deletion Pathogenic 407079 rs765804978 6:26091747-26091748 6:26091519-26091520
13 TFR2 NM_003227.4(TFR2):c.253del (p.Leu85fs)deletion Pathogenic 461198 rs1426704853 7:100238632-100238632 7:100641009-100641009
14 HFE NM_000410.3(HFE):c.762del (p.Asp255fs)deletion Pathogenic 530393 rs1554154042 6:26093056-26093056 6:26092828-26092828
15 TFR2 NM_003227.4(TFR2):c.1398del (p.Arg468fs)deletion Pathogenic 461197 rs773050231 7:100225922-100225922 7:100628299-100628299
16 TFR2 NM_003227.4(TFR2):c.1870C>T (p.Gln624Ter)SNV Pathogenic 582071 rs1220336558 7:100225012-100225012 7:100627389-100627389
17 TFR2 NC_000007.13:g.(?_100238303)_(100239138_?)deldeletion Pathogenic 583971 7:100238303-100239138 7:100640680-100641515
18 TFR2 NM_003227.4(TFR2):c.1746del (p.Val583fs)deletion Pathogenic 581375 rs1562838535 7:100225221-100225221 7:100627598-100627598
19 TFR2 NM_003227.4(TFR2):c.1409G>T (p.Ser470Ile)SNV Pathogenic 577309 rs772104483 7:100225911-100225911 7:100628288-100628288
20 TFR2 NM_003227.4(TFR2):c.401_402dup (p.Leu135fs)duplication Pathogenic 652249 7:100238379-100238380 7:100640756-100640757
21 SLC40A1 NM_014585.6(SLC40A1):c.430A>G (p.Asn144Asp)SNV Pathogenic 801843 2:190436525-190436525 2:189571799-189571799
22 TFR2 NM_003227.4(TFR2):c.2101C>T (p.Arg701Ter)SNV Pathogenic 802342 7:100224421-100224421 7:100626798-100626798
23 TFR2 NM_003227.4(TFR2):c.614+1G>CSNV Likely pathogenic 657099 7:100231038-100231038 7:100633415-100633415
24 HFE NM_000410.3(HFE):c.77-2_78delinsTGGAGTCindel Likely pathogenic 633265 rs1561939338 6:26091067-26091070 6:26090839-26090842
25 TFR2 NM_003227.4(TFR2):c.1606-2A>GSNV Likely pathogenic 570407 rs750609759 7:100225445-100225445 7:100627822-100627822
26 TFR2 NM_003227.4(TFR2):c.2033G>C (p.Arg678Pro)SNV Likely pathogenic 188153 rs786204108 7:100224489-100224489 7:100626866-100626866
27 HFE NM_000410.3(HFE):c.845G>A (p.Cys282Tyr)SNV Conflicting interpretations of pathogenicity, other 9 rs1800562 6:26093141-26093141 6:26092913-26092913
28 HFE NM_000410.3(HFE):c.187C>G (p.His63Asp)SNV Conflicting interpretations of pathogenicity, other 10 rs1799945 6:26091179-26091179 6:26090951-26090951
29 TFR2 NM_003227.4(TFR2):c.1770C>T (p.Asp590=)SNV Conflicting interpretations of pathogenicity 21368 rs35704760 7:100225112-100225112 7:100627489-100627489
30 HAMP NM_021175.4(HAMP):c.212G>A (p.Gly71Asp)SNV Conflicting interpretations of pathogenicity 4286 rs104894696 19:35775902-35775902 19:35284999-35284999
31 TFR2 NM_003227.4(TFR2):c.1449C>T (p.Ser483=)SNV Conflicting interpretations of pathogenicity 258986 rs41295899 7:100225871-100225871 7:100628248-100628248
32 HFE NM_000410.3(HFE):c.68G>A (p.Arg23His)SNV Conflicting interpretations of pathogenicity 356194 rs148161858 6:26087736-26087736 6:26087508-26087508
33 HFE NM_000410.3(HFE):c.829G>A (p.Glu277Lys)SNV Conflicting interpretations of pathogenicity 356196 rs140080192 6:26093125-26093125 6:26092897-26092897
34 TFR2 NM_003227.4(TFR2):c.2014C>T (p.Gln672Ter)SNV Conflicting interpretations of pathogenicity 632495 rs1051249273 7:100224508-100224508 7:100626885-100626885
35 TFR2 NM_003227.4(TFR2):c.726+9C>TSNV Conflicting interpretations of pathogenicity 358295 rs372020405 7:100230843-100230843 7:100633220-100633220
36 TFR2 NM_003227.4(TFR2):c.447G>A (p.Gly149=)SNV Conflicting interpretations of pathogenicity 358300 rs41302366 7:100238335-100238335 7:100640712-100640712
37 TFR2 NM_003227.4(TFR2):c.849+6T>ASNV Conflicting interpretations of pathogenicity 358294 rs41303468 7:100230618-100230618 7:100632995-100632995
38 TFR2 NM_003227.4(TFR2):c.1504G>A (p.Val502Ile)SNV Conflicting interpretations of pathogenicity 358289 rs150618729 7:100225729-100225729 7:100628106-100628106
39 TFR2 NM_003227.4(TFR2):c.2367G>A (p.Ala789=)SNV Conflicting interpretations of pathogenicity 358283 rs374766778 7:100218519-100218519 7:100620896-100620896
40 TFR2 NM_003227.4(TFR2):c.1682+9G>TSNV Conflicting interpretations of pathogenicity 358287 rs41295906 7:100225358-100225358 7:100627735-100627735
41 TFR2 NM_003227.4(TFR2):c.1249A>G (p.Ile417Val)SNV Conflicting interpretations of pathogenicity 358292 rs141101651 7:100228533-100228533 7:100630910-100630910
42 TFR2 NM_003227.4(TFR2):c.2172A>G (p.Pro724=)SNV Conflicting interpretations of pathogenicity 358286 rs141140309 7:100218714-100218714 7:100621091-100621091
43 TFR2 NM_003227.4(TFR2):c.1575G>A (p.Leu525=)SNV Conflicting interpretations of pathogenicity 358288 rs886061833 7:100225560-100225560 7:100627937-100627937
44 TFR2 NM_003227.4(TFR2):c.1252G>A (p.Glu418Lys)SNV Uncertain significance 358291 rs139383159 7:100228530-100228530 7:100630907-100630907
45 TFR2 NM_003227.4(TFR2):c.1076T>A (p.Ile359Asn)SNV Uncertain significance 358293 rs140020076 7:100229459-100229459 7:100631836-100631836
46 TFR2 NM_003227.4(TFR2):c.2183C>T (p.Pro728Leu)SNV Uncertain significance 358284 rs772659158 7:100218703-100218703 7:100621080-100621080
47 TFR2 NM_003227.4(TFR2):c.479C>T (p.Thr160Ile)SNV Uncertain significance 358299 rs746602701 7:100231174-100231174 7:100633551-100633551
48 HFE NM_000410.3(HFE):c.*417C>TSNV Uncertain significance 356200 rs118079331 6:26094871-26094871 6:26094643-26094643
49 TFR2 NM_003227.4(TFR2):c.557A>C (p.Gln186Pro)SNV Uncertain significance 358298 rs375882473 7:100231096-100231096 7:100633473-100633473
50 HFE NM_000410.3(HFE):c.*301C>ASNV Uncertain significance 356199 rs373610457 6:26094755-26094755 6:26094527-26094527

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

Sources

Expression for Hemochromatosis, Type 1

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

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds 65
Show member pathways
 13.13 TFRC TF SLC40A1 SLC11A2 HEPH FTL
2
Insulin receptor recycling 65
Show member pathways
 12.31 TFRC TF SLC40A1 SLC11A2 HEPH FTL
3
Glucose / Energy Metabolism 4
12.29 SLC11A2 IREB2 CP ACO1
4
Porphyrin and chlorophyll metabolism 36
Show member pathways
 12.11 UROD HEPH FXN CP
5
Metal ion SLC transporters 65
Show member pathways
 11.65 SLC40A1 SLC11A2 HEPH CP
6
TGF-beta signaling pathway (KEGG) 36
11.63 HJV HAMP BMP2
7
HIF-1-alpha transcription factor network 1
11.42 TFRC TF CP
8
Mineral absorption 36
11.4 TF SLC40A1 SLC11A2 HEPH FTL CYBRD1
9
Ferroptosis 36
11.03 TFRC TF SLC40A1 SLC11A2 FTL CP
10
Hfe effect on hepcidin production 1
10.47 TMPRSS6 HJV HFE HAMP
11
Iron metabolism in placenta 1
10.3 TFRC TFR2 TF SLC40A1 SLC11A2 IREB2
Sources

GO Terms for Hemochromatosis, Type 1

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.26 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 MR1
2 extracellular space GO:0005615 10.02 TMPRSS6 TFRC TF MR1 HJV HFE
3 cell surface GO:0009986 9.91 TFRC TF SLC11A2 HJV BMP2 B2M
4 early endosome GO:0005769 9.76 TFRC TF SLC11A2 HFE
5 recycling endosome GO:0055037 9.67 TFRC TF SLC11A2 HFE
6 cell GO:0005623 9.53 TMPRSS6 TFRC TFR2 TF SLC40A1 SLC11A2
7 basal part of cell GO:0045178 9.43 TF SLC11A2 HFE
8 HFE-transferrin receptor complex GO:1990712 9.43 TFRC TFR2 TF HJV HFE B2M
9 BMP receptor complex GO:0070724 9.4 HJV BMP2
10 MHC class I protein complex GO:0042612 9.33 MR1 HFE B2M

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 10.09 HEPH FXN FTL CYBRD1 CP BMP2
2 ion transport GO:0006811 10.04 TF SLC40A1 SLC11A2 HFE HEPH FXN
3 BMP signaling pathway GO:0030509 9.81 HJV HFE BMP2
4 iron ion transport GO:0006826 9.81 TFRC TFR2 TF SLC40A1 SLC11A2 IREB2
5 positive regulation of protein binding GO:0032092 9.79 HFE BMP2 B2M
6 iron ion homeostasis GO:0055072 9.77 TMPRSS6 TFR2 TF SLC40A1 SLC11A2 IREB2
7 acute-phase response GO:0006953 9.76 TFR2 HFE HAMP
8 osteoclast differentiation GO:0030316 9.75 TFRC TF IREB2
9 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.73 MR1 HFE B2M
10 transferrin transport GO:0033572 9.73 TFRC TFR2 TF HFE
11 response to iron ion GO:0010039 9.73 TFR2 SLC11A2 HFE HAMP FXN CYBRD1
12 positive regulation of receptor-mediated endocytosis GO:0048260 9.7 TF HFE B2M
13 heme biosynthetic process GO:0006783 9.69 UROD SLC11A2 FXN
14 multicellular organismal iron ion homeostasis GO:0060586 9.67 SLC40A1 SLC11A2 HFE HAMP
15 positive regulation of bone resorption GO:0045780 9.65 TFRC TF
16 protein autoprocessing GO:0016540 9.65 HJV FXN
17 copper ion transport GO:0006825 9.65 SLC11A2 HEPH CP
18 intestinal absorption GO:0050892 9.64 IREB2 ACO1
19 porphyrin-containing compound biosynthetic process GO:0006779 9.63 UROD SLC11A2
20 positive regulation of peptide hormone secretion GO:0090277 9.63 TFR2 HFE
21 iron ion transmembrane transport GO:0034755 9.63 TF SLC40A1 SLC11A2
22 protoporphyrinogen IX biosynthetic process GO:0006782 9.62 UROD IREB2
23 cellular response to iron ion GO:0071281 9.62 TFR2 TF HFE B2M
24 positive regulation of receptor binding GO:1900122 9.61 HFE B2M
25 negative regulation of receptor binding GO:1900121 9.6 HFE B2M
26 citrate metabolic process GO:0006101 9.59 IREB2 ACO1
27 regulation of iron ion transport GO:0034756 9.58 TF HFE B2M
28 response to iron ion starvation GO:1990641 9.57 HFE HAMP
29 positive regulation of transferrin receptor binding GO:1904437 9.55 HFE B2M
30 positive regulation of ferrous iron binding GO:1904434 9.54 HFE B2M
31 cellular iron ion homeostasis GO:0006879 9.53 TMPRSS6 TFRC TFR2 TF SLC40A1 SLC11A2

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.45 UROD TMPRSS6 TFRC TFR2 TF SLC40A1
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 iron chaperone activity GO:0034986 9.46 TF FXN
7 transferrin transmembrane transporter activity GO:0033570 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 transferrin receptor activity GO:0004998 9.37 TFRC TFR2
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
Sources

Sources for Hemochromatosis, Type 1

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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