Hemochromatosis, Type 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

HFE1 MCID: HMC039 MIFTS: 75	Hemochromatosis, Type 1 (HFE1) Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Hemochromatosis, Type 1

MalaCards integrated aliases for Hemochromatosis, Type 1:

Name: Hemochromatosis, Type 1 ⁵⁷ ³⁸ ⁷¹

Hemochromatosis ⁵⁷ ¹¹ ¹⁹ ⁴² ⁷⁵ ¹² ⁵³ ⁴¹ ⁴³ ¹⁴ ⁶³ ³⁸ ¹⁶ ⁷¹

Hereditary Hemochromatosis ⁴² ⁷⁵ ⁷³ ²⁸ ⁵³ ⁵ ⁷¹

Hemochromatosis Type 1 ¹¹ ¹⁹ ⁷⁵ ⁷³ ²⁸ ⁵ ¹⁴

Hh ⁵⁷ ⁴² ⁷³ ¹⁶

Hfe1 ⁵⁷ ¹¹ ⁷³

Symptomatic Form of Hfe-Related Hereditary Hemochromatosis ¹¹ ⁵⁸

Symptomatic Form of Classic Hemochromatosis ¹¹ ⁵⁸

Symptomatic Form of Hemochromatosis Type 1 ¹¹ ⁵⁸

Hfe Hemochromatosis, Modifier of ⁵⁷ ²⁸

Hereditary Haemochromatosis ⁴² ⁷⁵

Iron Storage Disorder ¹¹ ⁴²

Haemochromatosis ¹¹ ⁴²

Bronze Diabetes ⁴² ⁵

Hlah ⁴² ⁷³

Hfe-Associated Hereditary Hemochromatosis ¹⁹

Von Recklenhausen-Applebaum Disease ⁴²

Primary Hereditary Hemochromatosis ⁷³

Troisier-Hanot-Chauffard Syndrome ⁴²

Hemochromatosis, Hereditary ⁵⁷

Familial Hemochromatosis ⁴²

Classic Hemochromatosis ¹⁹

Hemochromatosis Classic ¹⁹

Genetic Hemochromatosis ⁴²

Primary Hemochromatosis ⁴²

Pigmentary Cirrhosis ⁴²

Bronzed Cirrhosis ⁴²

Hemochromatosis 1 ⁷³

Bronze Cirrhosis ⁷¹

Diabetes Bronze ¹¹

Hfe ⁵⁷

Hc ⁴²

Characteristics:

Inheritance:

Hemochromatosis, Type 1: Autosomal recessive ⁵⁷

Symptomatic Form of Hemochromatosis Type 1: Autosomal recessive ⁵⁸

Age Of Onset:

Symptomatic Form of Hemochromatosis Type 1: Adult ⁵⁸

OMIM®:

⁵⁷ (Updated 08-Dec-2022)

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Liver diseases Skin diseases Cardiovascular diseases Endocrine diseases Blood diseases

See all MalaCards categories (disease lists)

ICD10: ³¹ ³²

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of mineral metabolism

Disorders of iron metabolism

Orphanet: ⁵⁸

Rare hepatic diseases

Inborn errors of metabolism

External Ids:

Disease Ontology ¹¹ DOID:0111029 DOID:2352

OMIM® ⁵⁷ 235200

OMIM Phenotypic Series ⁵⁷ PS235200

MeSH ⁴³ D006432

NCIt ⁴⁹ C82892

SNOMED-CT ⁶⁸ 86781004

ICD10 ³¹ E83.1

ICD10 via Orphanet ³² E83.1

Orphanet ⁵⁸ ORPHA465508

MedGen ⁴⁰ C0392514 C3469186

EFO ¹⁶ EFO_0002194 EFO_1000642

UMLS ⁷¹ C0018995 C0392514 C1442995 more

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Summaries for Hemochromatosis, Type 1

MedlinePlus Genetics: ⁴² Hereditary hemochromatosis is a disorder that causes the body to absorb too much iron from the diet. The excess iron is stored in the body's tissues and organs, particularly the skin, heart, liver, pancreas, and joints. Because humans cannot increase the excretion of iron, excess iron can overload and eventually damage tissues and organs. For this reason, hereditary hemochromatosis is also called an iron overload disorder.Early symptoms of hereditary hemochromatosis may include extreme tiredness (fatigue), joint pain, abdominal pain, weight loss, and loss of sex drive. As the condition worsens, affected individuals may develop arthritis, liver disease (cirrhosis) or liver cancer, diabetes, heart abnormalities, or skin discoloration. The appearance and severity of symptoms can be affected by environmental and lifestyle factors such as the amount of iron in the diet, alcohol use, and infections.There are four types of hereditary hemochromatosis, which are classified depending on the age of onset and other factors such as genetic cause and mode of inheritance.Type 1, the most common form of the disorder, and type 4 (also called ferroportin disease) begin in adulthood. Men with type 1 or type 4 hemochromatosis typically develop symptoms between the ages of 40 and 60, and women usually develop symptoms after menopause.Type 2 hemochromatosis is known as a juvenile-onset disorder because symptoms often begin in childhood. By age 20, iron accumulation causes decreased or absent secretion of sex hormones. Affected females usually begin menstruation normally but menses stop after a few years. Males may experience delayed puberty or symptoms related to a shortage of sex hormones. If type 2 hemochromatosis is untreated, potentially fatal heart disease becomes evident by age 30.The onset of type 3 hemochromatosis is usually intermediate between types 1 and 2 with symptoms generally beginning before age 30.

MalaCards based summary: Hemochromatosis, Type 1, also known as hemochromatosis, is related to hemochromatosis, type 4 and hemochromatosis, type 3, and has symptoms including nausea and vomiting, constipation and abdominal pain. An important gene associated with Hemochromatosis, Type 1 is HFE (Homeostatic Iron Regulator), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Glucose / Energy Metabolism. The drugs Iron and Deferiprone have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and pancreas, and related phenotypes are elevated transferrin saturation and increased circulating ferritin concentration

GARD: ¹⁹ Hemochromatosis is a disease in which too much iron builds up in the body. This is also called iron overload. Accumulation of iron in the organs is toxic and can cause organ damage. While many organs can be affected, iron overload is especially likely to affect the liver, heart, and pancreas. Early symptoms of Hemochromatosis can include fatigue, weakness, and joint pain. Other symptoms may include abdominal pain, loss of sex drive, liver disease, diabetes, heart problems, and skin discoloration. Hemochromatosis may be hereditary, meaning it is caused by genetic changes (genetic changes or pathogenic variants) to any of several genes including FTH1, HAMP, HFE, HFE2 (also known as HJV), SLC40A1, and TFR2. This is called acquired Hemochromatosis. When Hemochromatosis develops in an infant and the exact cause of the disease cannot be determined, it is called neonatal Hemochromatosis. A diagnosis of Hemochromatosis is suspected when a doctor observes signs and symptoms of the disease. A doctor may decide to order laboratory tests including a liver biopsy, MRI, or blood test. The diagnosis can be confirmed with genetic testing.

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

OMIM®: ⁵⁷ Hereditary hemochromatosis is an autosomal recessive disorder of iron metabolism wherein the body accumulates excess iron (summary by Feder et al., 1996). Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading. Removal of excess iron by therapeutic phlebotomy decreases morbidity and mortality if instituted early in the course of the disease. Classic hemochromatosis (HFE) is most often caused by mutation in a gene designated HFE on chromosome 6p21.3. Adams and Barton (2007) reviewed the clinical features, pathophysiology, and management of hemochromatosis. (235200) (Updated 08-Dec-2022)

PubMed Health : ⁶³ Hemochromatosis: Hemochromatosis (HE-mo-kro-ma-TO-sis) is a disease in which too much iron builds up in your body (iron overload). Iron is a mineral found in many foods. Too much iron is toxic to your body. It can poison your organs and cause organ failure. In hemochromatosis, iron can build up in most of your body's organs, but especially in the liver, heart, and pancreas. Too much iron in the liver can cause an enlarged liver, liver failure, liver cancer, or cirrhosis (sir-RO-sis). Cirrhosis is scarring of the liver, which causes the organ to not work well. Too much iron in the heart can cause irregular heartbeats called arrhythmias (ah-RITH-me-ahs) and heart failure. Too much iron in the pancreas can lead to diabetes. If hemochromatosis isn't treated, it may even cause death.

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

UniProtKB/Swiss-Prot: ⁷³ A disorder of iron metabolism characterized by iron overload. Excess iron is deposited in a variety of organs leading to their failure, and resulting in serious illnesses including cirrhosis, hepatomas, diabetes, cardiomyopathy, arthritis, and hypogonadotropic hypogonadism. Severe effects of the disease usually do not appear until after decades of progressive iron loading.

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

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

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

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

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Related Diseases for Hemochromatosis, Type 1

Diseases in the Hfe Hemochromatosis family:

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

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

(show top 50) (show all 796)

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

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

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Symptoms & Phenotypes for Hemochromatosis, Type 1

Human phenotypes related to Hemochromatosis, Type 1:

⁵⁸ ³⁰ (show top 50) (show all 56)

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

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Endocrine Features:
diabetes mellitus
hypogonadotropic hypogonadism
abnormal glucose tolerance

Abdomen Liver:
hepatomegaly
cirrhosis
hepatocellular carcinoma

Abdomen:
ascites
abdominal pain

Skin Nails Hair Hair:
alopecia

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

Genitourinary Internal Genitalia Female:
amenorrhea

Abdomen Spleen:
splenomegaly

Cardiovascular Heart:
cardiomegaly
congestive heart failure
arrhythmia
cardiomyopathy

Skeletal:
osteoporosis
arthropathy

Genitourinary External Genitalia Male:
azoospermia
testicular atrophy
impotence

Respiratory Lung:
pleural effusion

Skin Nails Hair Skin:
hyperpigmentation
telangiectases

Clinical features from OMIM®:

235200 (Updated 08-Dec-2022)

UMLS symptoms related to Hemochromatosis, Type 1:

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

MGI Mouse Phenotypes related to Hemochromatosis, Type 1:

⁴⁵

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

Sources

Drugs & Therapeutics for Hemochromatosis, Type 1

PubMed Health treatment related to Hemochromatosis, Type 1: ⁶³

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

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

(show all 44)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Iron

Approved

Phase 4

7439-89-6

29936

Deferiprone

Approved

Phase 4

30652-11-0

2972

Deferasirox

Approved, Investigational

Phase 4

201530-41-8

214348 5493381

Deferoxamine

Approved, Investigational

Phase 4

70-51-9

2973

Iron Chelating Agents

Phase 4

Chelating Agents

Phase 4

Hydroxyurea

Approved

Phase 3

127-07-1

3657

Liver Extracts

Phase 3

Anti-Infective Agents

Phase 2

Hepcidins

Phase 2

Chrysarobin

Phase 2

Antirheumatic Agents

Phase 2

Interleukin 1 Receptor Antagonist Protein

Phase 2

Pharmaceutical Solutions

Phase 2

Nifedipine

Approved

Phase 1

21829-25-4

4485

Calcium polycarbophil

Approved

Phase 1

126040-58-2

Hormones

Phase 1

Vasodilator Agents

Phase 1

Calcium, Dietary

Phase 1

calcium channel blockers

Phase 1

Tocolytic Agents

Phase 1

Gastrointestinal Agents

Phase 1

Cathartics

Phase 1

Laxatives

Phase 1

Psyllium

Phase 1

Calcium

Nutraceutical

Phase 1

7440-70-2

271

Pantoprazole

Approved

102625-70-7, 138786-67-1

4679

Tacrolimus

Approved, Investigational

104987-11-3

6473866 445643

Ethanol

Approved

64-17-5

702

Pancrelipase

Approved, Investigational

53608-75-6

8519

Kava

Approved, Investigational, Nutraceutical

9000-38-8

Aspartic acid

Approved, Nutraceutical

56-84-8

5960

Trichostatin A

Experimental

58880-19-6

5562 444732

Anti-Ulcer Agents

Antacids

Proton Pump Inhibitors

Iron Supplement

Calcineurin Inhibitors

Immunosuppressive Agents

Immunologic Factors

bilirubin

635-65-4

5280352

N-Methylaspartate

Pancreatin

D-Alanine

Experimental, Nutraceutical

302-72-7, 338-69-2, 56-41-7

101757026 602 71080 5950

Interventional clinical trials:

(show top 50) (show all 62)

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

Search NIH Clinical Center for Hemochromatosis, Type 1

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

deferoxamine mesylate

Cochrane evidence based reviews: hemochromatosis

Sources

Genetic Tests for Hemochromatosis, Type 1

Genetic tests related to Hemochromatosis, Type 1:

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

Sources

Anatomical Context for Hemochromatosis, Type 1

Organs/tissues related to Hemochromatosis, Type 1:

MalaCards : Liver, Heart, Pancreas, Skin, Lung, Bone, Ovary

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

Sources

Publications for Hemochromatosis, Type 1

Articles related to Hemochromatosis, Type 1:

(show top 50) (show all 8673)

#	Title	Authors	PMID	Year
1	Diagnosis of hemochromatosis in family members of probands: a comparison of phenotyping and HFE genotyping. ⁵³ ⁶² ⁵⁷ ⁵	Barton JC...Acton RT	11336458	1999
2	The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype. ⁶² ⁵⁷ ⁵	Le Gac G...Ferec C	15254010	2004
3	Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. ⁶² ⁵⁷ ⁵	Merryweather-Clarke AT...Robson KJ	12915468	2003
4	The significance of the 187G (H63D) mutation in hemochromatosis. ⁶² ⁵⁷ ⁵	Beutler E	9326341	1997
5	Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. ⁶² ⁵⁷ ⁵	Carella M...Camaschella C	9106528	1997
6	Haemochromatosis and HLA-H. ⁶² ⁵⁷ ⁵	Jouanolle AM...David V	8896550	1996
7	Haemochromatosis and HLA-H. ⁶² ⁵⁷ ⁵	Jazwinska EC...Walsh TP	8896549	1996
8	A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. ⁶² ⁵⁷ ⁵	Feder JN...Wolff RK	8696333	1996
9	Proliferative retinopathy in a patient with diabetes mellitus and idiopathic haemochromatosis. ⁶² ⁵⁷ ⁵	Walsh CH...Malins JM	678784	1978
10	Targeted disruption of the HFE gene. ⁵⁷ ⁵	Beutler E	9482831	1998
11	Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels. ⁵³ ⁶² ⁵	Benyamin B...Visscher PM	19084217	2009
12	Defective trafficking and localization of mutated transferrin receptor 2: implications for type 3 hereditary hemochromatosis. ⁵³ ⁶² ⁵	Wallace DF...Subramaniam VN	18094142	2008
13	Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway modulate HFE hemochromatosis penetrance. ⁵³ ⁶² ⁵⁷	Milet J...Mosser J	17847004	2007
14	Definition of C282Y mutation in a hereditary hemochromatosis family from Turkey. ⁵³ ⁶² ⁵	Yonal O...Mungan Z	17450498	2007
15	Hemochromatosis (HFE) gene splice site mutation IVS5+1 G/A in North American Vietnamese with and without phenotypic evidence of iron overload. ⁵³ ⁶² ⁵	Steiner M...Eckfeldt JH	17240320	2007
16	Hemochromatosis and severe iron overload associated with compound heterozygosity for TFR2 R455Q and two novel mutations TFR2 R396X and G792R. ⁵³ ⁶² ⁵	Lee PL...Barton JC	16424658	2006
17	Initial screening transferrin saturation values, serum ferritin concentrations, and HFE genotypes in Native Americans and whites in the Hemochromatosis and Iron Overload Screening Study. ⁵³ ⁶² ⁵⁷	Barton JC...Hemochromatosis and Iron Overload Screening Study Research Investigators	16451136	2006
18	The Q283P amino-acid change in HFE leads to structural and functional consequences similar to those described for the mutated 282Y HFE protein. ⁵³ ⁶² ⁵	Ka C...Ferec C	15965644	2005
19	HIV-1 Nef down-regulates the hemochromatosis protein HFE, manipulating cellular iron homeostasis. ⁵³ ⁶² ⁵⁷	Drakesmith H...Xu XN	16043695	2005
20	Association of porphyria cutanea tarda with hereditary hemochromatosis. ⁵³ ⁶² ⁵	Mehrany K...Pittelkow MR	15280838	2004
21	Hemochromatosis mutations in the general population: iron overload progression rate. ⁵³ ⁶² ⁵	Andersen RV...Nordestgaard BG	15070663	2004
22	Duodenal cytochrome b and hephaestin expression in patients with iron deficiency and hemochromatosis. ⁵³ ⁶² ⁵⁷	Zoller H...Weiss G	12949720	2003
23	Phenotypic expression of the C282Y/Q283P compound heterozygosity in HFE and molecular modeling of the Q283P mutation effect. ⁵³ ⁶² ⁵	Le Gac G...Ferec C	12737937	2003
24	Mutation analysis of transferrin-receptor 2 in patients with atypical hemochromatosis. ⁵³ ⁶² ⁵⁷	Hofmann WK...Koeffler HP	12150153	2002
25	A previously undescribed nonsense mutation of the HFE gene. ⁵³ ⁶² ⁵	Beutler E...West C	11903354	2002
26	Recent advances in disorders of iron metabolism: mutations, mechanisms and modifiers. ⁵³ ⁶² ⁵⁷	Roy CN...Andrews NC	11673399	2001
27	Inheritance of two HFE mutations in African Americans: cases with hemochromatosis phenotypes and estimates of hemochromatosis phenotype frequency. ⁵³ ⁶² ⁵⁷	Barton JC...Acton RT	11478530	2001
28	Role of hemochromatosis C282Y and H63D mutations in HFE gene in development of type 2 diabetes and diabetic nephropathy. ⁵³ ⁶² ⁵	Moczulski DK...Gawlik B	11423500	2001
29	Hemochromatosis-associated morbidity in the United States: an analysis of the National Hospital Discharge Survey, 1979-1997. ⁵³ ⁶² ⁵⁷	Brown AS...Khoury MJ	11280947	2001
30	Two novel nonsense mutations of HFE gene in five unrelated italian patients with hemochromatosis. ⁵³ ⁶² ⁵	Piperno A...Mancia G	10930379	2000
31	Experimental hemochromatosis due to MHC class I HFE deficiency: immune status and iron metabolism. ⁵³ ⁶² ⁵⁷	Bahram S...Schumann K	10557317	1999
32	Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands. ⁵³ ⁶² ⁵	Barton JC...Acton RT	10575540	1999
33	The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells. ⁵³ ⁶² ⁵⁷	Roy CN...Enns CA	10085150	1999
34	Diagnosis of hemochromatosis. ⁵³ ⁶² ⁵⁷	Powell LW...Kowdley KV	9867744	1998
35	Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor. ⁵³ ⁶² ⁵	Lebron JA...Bjorkman PJ	9546397	1998
36	Association of the transferrin receptor in human placenta with HFE, the protein defective in hereditary hemochromatosis. ⁵³ ⁶² ⁵⁷	Parkkila S...Sly WS	9371823	1997
37	HLA-H and associated proteins in patients with hemochromatosis. ⁵³ ⁶² ⁵⁷	Beutler E...Gelbart T	9234244	1997
38	The hemochromatosis founder mutation in HLA-H disrupts beta2-microglobulin interaction and cell surface expression. ⁵³ ⁶² ⁵	Feder JN...Schatzman RC	9162021	1997
39	Percent transferrin saturation in segregating hemochromatosis. ⁵³ ⁶² ⁵⁷	Borecki IB...Lalouel JM	2363427	1990
40	Atypical juvenile hereditary hemochromatosis onset with positive pancreatic islet autoantibodies diabetes caused by novel mutations in HAMP and overall clinical management. ⁶² ⁵	Wu HX...Zhou HD	33016646	2020
41	HFE-Related Hemochromatosis in a Chinese Patient: The First Reported Case. ⁶² ⁵	Zhang W...Jia J	32153640	2020
42	Hyperferritinemia increases the risk of hyperuricemia in HFE-hereditary hemochromatosis. ⁶² ⁵	Flais J...Guggenbuhl P	27659401	2017
43	TFR2-related haemochromatosis in the Netherlands: a cause of arthralgia in young adulthood. ⁶² ⁵	Peters TM...Swinkels DW	28276324	2017
44	Rare HFE variants are the most frequent cause of hemochromatosis in non-c282y homozygous patients with hemochromatosis. ⁶² ⁵	Hamdi-Roze H...Bardou-Jacquet E	27518069	2016
45	Highly accurate molecular genetic testing for HFE hereditary hemochromatosis: results from 10 years of blinded proficiency surveys by the College of American Pathologists. ⁶² ⁵	Press RD...Weck KE	27124787	2016
46	Haemochromatosis. ⁶² ⁵	Powell LW...Deugnier Y	26975792	2016
47	EMQN best practice guidelines for the molecular genetic diagnosis of hereditary hemochromatosis (HH). ⁶² ⁵	Porto G...Keeney S	26153218	2016
48	Transferrin receptor 2 mutations in patients with juvenile hemochromatosis phenotype. ⁶² ⁵	Ravasi G...Piperno A	26408288	2015
49	Compound heterozygous C282Y/Q283P and Q283P/H63D mutations in haemochromatosis. ⁶² ⁵	van Gammeren A...van Wijngaarden P	25850353	2015
50	Penetrance of Hemochromatosis in HFE Genotypes Resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE Network. ⁶² ⁵	Gallego CJ...Jarvik GP	26365338	2015

Sources

Genes for Hemochromatosis, Type 1

Genes related to Hemochromatosis, Type 1 (9 elite genes):

(show top 50) (show all 126)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	HFE	Homeostatic Iron Regulator	Protein Coding	1717.27	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	678784 8696333 8896549 (more) 8896550 8931958 9024376 9138148 9162021 9211748 9321765 9326341 9341868 9356458 9439654 9462220 9482831 9546397 9585606 9851896 9851897 10381492 10401000 10431233 10575540 10930379 11040194 11358905 11399207 11479183 11532995 11812557 11874997 11903354 12241803 12429850 12436244 12737937 12915468 14618419 14673107 14729817 15060098 15070663 15254010 15280838 15347835 15965644 16132052 16879202 17389307 17450498 18499578 18504828 18566337 19084217 19159930 19554541 20301613 21243428 22531912 22890139 23953397 24729993 25457201 25728773 25850353 26153218 26365338 27124787 27518069 27659401 27890643 31061747 31436889 31980526 32153640 16199547 17240320 20017200 22093335 29295803 11358388 12949720 10772870 10403350 10791995 10989541 15324319 11336458 11513196 12972032 9642100 8304342 18293685 14633776 10383365 15925529 15789881 10216143 16043695 19359997 19072401 12508400 8557248 18585964 19477142 18521456 17521857 17108759 12673276 11042033 10698721 9789968 19058322 18363869 17847004 15993396 12210292 11423500 10586619 9234244 8781118 19860558 19907151 17181986 15141324 12902032 11468226 9777338 12678056 11887210 10695662 17483072 11960576 11478530 10471458 10189391 15832585 12149232 11686223 10348824 10207799 11037612 17194693 17373275 16871764 12957297 17053738 17394393 15928800 9702455 9867744 10609274 10423072 10989543 11935295 11836175 11783942 11707069 11551098 11469076 11445256 11358389 11172342 19820015 18045552 17298224 16797509 17061732 16998622 16178952 16047841 15654232 16451136 16216474 12547214 10349514 11358390 11875012 10087990 11514397 12816900 15377292 12547236 12030278 15871018 9460809 10085150 10580641 16409153 11259339 10719381 17540536 11196670 11027676 10589245 20393306 19591830 15740492 15727899 11500061 10756356 18199861 11898957 11446670 11109593 10694284 10488699 9662273 1427838 18524764 12714823 19254567 17543888 15319650 12942784 10369785 16893896 15044462 11867720 17116709 7806210 10571078 11110619 11358357 11581431 11730630 15464654 15013567 15017658 12763366 12693884 12657433 11875007 11933937 11673657 11465544 11340100 11280947 11172496 11106561 11001800 10953958 19375516 19214511 17666895 17160266 17130663 16154780 15914561 15503019 15266614 11531973 11500066 11458969 11313241 10979877 10953956 10953950 10942923 10861683 10787240 9931446 9833909 9705350
2	BMP2	Bone Morphogenetic Protein 2	Protein Coding	661.31	Molecular basis known ⁵⁷ Genetic Tests ²⁸ Susceptibility factor ⁵⁷ DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	17847004
3	TFR2	Transferrin Receptor 2	Protein Coding	464.15	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	11984516 12809944 15147384 (more) 18094142 23600741 26029709 26408288 28276324 16199547 16424658 16923517 16893896 11358390 12667993 11027676 12406888 17540536 15818145 11673399 17202145 15671438 15863206 17956864 12382200 19254567 17373275 15319290 16409153 19819738 10681454 12656741 15749661 12547237 12704209 15486069 11358388 15317665 16797509 18430498 15319276 18727423 12134060 17181986 14633776 12150153 17106152 15506716 15059075 11207374 19467940 16932966 17098454 18245657 15749651 20408179 19229506 15842597 11358391 19144662 17951290 17886335 17486050 17124037 16424663 16103673 15897636 15894659 11551099 15701302 17517077 16234038 11836175
4	HAMP	Hepcidin Antimicrobial Peptide	Protein Coding	462.32	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	22297252 33016646 15099344 (more) 15024747 14670915 16103673 19342478 17373275 16234038 19625109 15198949 15701302 17886335 15703644 17951290 18727423 19214511 17181986 15003819
5	SLC40A1	Solute Carrier Family 40 Member 1	Protein Coding	444.39	Pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	17997113 16257244 15818145 (more) 17373275 19342478 15897636 11914044 15703643 15935710 15986403 18160816 17492589 18727423 12547233 11518736 14757427 17951290 16258219 15692071 15956209 15894659 17181986 19467940 19907151
6	HJV	Hemojuvelin BMP Co-Receptor	Protein Coding	438.86	Pathogenic ⁵ DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	12891378 14647275 14982873 (more) 15138164 15254010 15811010 19796184 17540536 16409153 16265043 18293685 17373275 15685557 15671438 19342478 16103673 16604073 15610558 16234038 16797509 17517077 15701302 18727423 19214511 17847004 18488871 17098454 17255318 20408179 19229506 16891003 15710580 17886335 17486050 17181986 16932966 18384687 15875150 17106152 15998830
7	HFE-AS1	HFE Antisense RNA 1	RNA Gene	425	Pathogenic ⁵ Likely pathogenic ⁵	8696333 9162021 9356458 (more) 11358905 11399207 11479183 11874997 11903354 12429850 14673107 16132052 19554541 20301613 22890139 24729993 26365338
8	LOC113687175	Sharpr-MPRA Regulatory Region 4647	Functional Element	425	Pathogenic ⁵ Likely pathogenic ⁵	23600741 26029709
9	BMP6	Bone Morphogenetic Protein 6	Protein Coding	362.13	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁴ ¹⁴	28335084
10	SLC11A2	Solute Carrier Family 11 Member 2	Protein Coding	34.22	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	11042033 9642100 11159549 (more) 9915882 10791995 15880641 15929194 11313311 10226041 14633776 16091957 10984552 16629172 12547214 14530973 16759552 11259339 11439223
11	TFRC	Transferrin Receptor	Protein Coding	33.45	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	1858781 15894659 2179037 (more) 8178799 11027676 11313310 8045562 10952228 15698591 16012706 12547224 10556042 9748693 9546397 9465039 11260522 9884584 19058322 17884229 12547240 15642666 12704209 15389541 15048869 12134060 15698609 10318901 12791823 10087990 1915805 1537518 11196670 15956653 10369785 14691533 11800564 11933019 15056661 9371823 11940510 7600692 11259339 17540536
12	CYBRD1	Cytochrome B Reductase 1	Protein Coding	30.91	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	12949720 16137899
13	HEPH	Hephaestin	Protein Coding	30.08	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	12949720 10791995 14633776 (more) 11259339 16137899 11110669
14	TF	Transferrin	Protein Coding	27.12	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11027676 17038583 8168821 (more) 12547236 12637325 15017658 15747119 14515008 16204165 7492760 15956653 11213576 9496946 9422115 17997113 16434376 15727899 15560291 12190182 18199861 11800564 11186869 11090050 1426911 18007147 15319650 10091419 17528674 17540536 11396694 17116709 8178799 7733125 10772870 18201677 16451136 2363427 17976429 2351033 9867750 10985917 11239514 10660486 20031565 16936157 7492612 8877637 10403350 18665827 8046672 10469492 16292193 10979877 10953960 9490597 1735529 20039160 18395717 19095082 17420432 17539901 9474045 7503084 2066547 2373481 19415085 17949288 15070663 11500065 14641999 12568299 11894536 11601557 2010491 19165391 19084217 18025154 17240320 10522553 9417535 7489980 1737903 1984682 20029940 18939938 18795173 18599584 17379103 15477198 11109593 10953947 18501210 16388329 15506717 12974919 11978935 11961734 11568090 11153416 10556042 9748693 7655030 7523217 8045502 18755804 16111902 16225403 15607698 15698591 14671617 11513189 10494202 10374203 9836708 9490593 10796893 10364030 10557317 8141120 19907151 17450498 16624237 12228962 15833784 9296078 20008199 18299753 10771090
15	FTL	Ferritin Light Chain	Protein Coding	25.81	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	17951290
16	ACO1	Aconitase 1	Protein Coding	23.81	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	7657289 11783942 16503547 (more) 16531245
17	CP	Ceruloplasmin	Protein Coding	22.9	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	11783942 16797509 10520410 (more) 15105274 11804665
18	UROD	Uroporphyrinogen Decarboxylase	Protein Coding	21.61	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	11069625 19233912 19001803 (more) 9792863 20099833 10189391
19	FXN	Frataxin	Protein Coding	20.29	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	14748006 10520410
20	IREB2	Iron Responsive Element Binding Protein 2	Protein Coding	18.15	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	16503547
21	B2M	Beta-2-Microglobulin	Protein Coding	16.97	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11935295 8920884
22	MR1	Major Histocompatibility Complex, Class I-Related	Protein Coding	16.31	Novoseek inferred ⁵³	11941597 10318901
23	SERPINA1	Serpin Family A Member 1	Protein Coding	15.12	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	8903392 16870258
24	ATP7B	ATPase Copper Transporting Beta	Protein Coding	13.99	DISEASES inferred ¹⁴ ¹⁴ Novoseek inferred ⁵³	16998622
25	TMPRSS6	Transmembrane Serine Protease 6	Protein Coding	13.44	DISEASES inferred ¹⁴ ¹⁴
26	HP	Haptoglobin	Protein Coding	12.87	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11738096 15306193 12005209
27	HLA-B	Major Histocompatibility Complex, Class I, B	Protein Coding	12.52	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	9510559 9162021 1427838
28	FTH1	Ferritin Heavy Chain 1	Protein Coding	12.04	DISEASES inferred ¹⁴ ¹⁴
29	ERFE	Erythroferrone	Protein Coding	11.85	DISEASES inferred ¹⁴ ¹⁴
30	SLC39A14	Solute Carrier Family 39 Member 14	Protein Coding	11.14	DISEASES inferred ¹⁴ ¹⁴
31	FECH	Ferrochelatase	Protein Coding	10.6	DISEASES inferred ¹⁴ ¹⁴
32	ALAS2	5'-Aminolevulinate Synthase 2	Protein Coding	10.43	DISEASES inferred ¹⁴ ¹⁴
33	STEAP3	STEAP3 Metalloreductase	Protein Coding	9.91	DISEASES inferred ¹⁴ ¹⁴
34	ABCB7	ATP Binding Cassette Subfamily B Member 7	Protein Coding	9.7	DISEASES inferred ¹⁴ ¹⁴
35	FGGY	FGGY Carbohydrate Kinase Domain Containing	Protein Coding	9.68	DISEASES inferred ¹⁴ ¹⁴
36	EPO	Erythropoietin	Protein Coding	9.67	DISEASES inferred ¹⁴ ¹⁴
37	AFP	Alpha Fetoprotein	Protein Coding	9.67	DISEASES inferred ¹⁴ ¹⁴
38	SLC25A37	Solute Carrier Family 25 Member 37	Protein Coding	9.62	DISEASES inferred ¹⁴ ¹⁴
39	NEO1	Neogenin 1	Protein Coding	9.61	DISEASES inferred ¹⁴ ¹⁴
40	HMOX1	Heme Oxygenase 1	Protein Coding	9.54	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	19165391
41	PANK2	Pantothenate Kinase 2	Protein Coding	9.35	DISEASES inferred ¹⁴ ¹⁴
42	MT-CYB	Mitochondrially Encoded Cytochrome B	Protein Coding	9.32	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	12949720 16137899
43	SLC39A1	Solute Carrier Family 39 Member 1	Protein Coding	9.06	DISEASES inferred ¹⁴ ¹⁴
44	SLC25A28	Solute Carrier Family 25 Member 28	Protein Coding	8.94	DISEASES inferred ¹⁴ ¹⁴
45	MIR122	MicroRNA 122	RNA Gene	8.73	DISEASES inferred ¹⁴ ¹⁴
46	FCGRT	Fc Gamma Receptor And Transporter	Protein Coding	8.64	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11935295 9523114
47	FAH	Fumarylacetoacetate Hydrolase	Protein Coding	8.5	DISEASES inferred ¹⁴ ¹⁴
48	G6PC1	Glucose-6-Phosphatase Catalytic Subunit 1	Protein Coding	8.26	DISEASES inferred ¹⁴ ¹⁴
49	EPOR	Erythropoietin Receptor	Protein Coding	8.08	DISEASES inferred ¹⁴ ¹⁴
50	BCS1L	BCS1 Homolog, Ubiquinol-Cytochrome C Reductase Complex Chaperone	Protein Coding	8.07	DISEASES inferred ¹⁴ ¹⁴

Sources

Variations for Hemochromatosis, Type 1

ClinVar genetic disease variations for Hemochromatosis, Type 1:

⁵ (show top 50) (show all 607)

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

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

⁷³ (show all 11)

#	Symbol	AA change	Variation ID	SNP ID
1	HFE	p.Ser65Cys	VAR_004397	rs1800730
2	HFE	p.Cys282Tyr	VAR_004398	rs1800562
3	HFE	p.Gln127His	VAR_008113	rs28934595
4	HFE	p.Arg330Met	VAR_008114	rs111033558
5	HFE	p.Gly93Arg	VAR_008729	rs28934597
6	HFE	p.Ile105Thr	VAR_008730	rs28934596
7	HFE	p.Gln283Pro	VAR_037304	rs111033563
8	HFE	p.Gly43Asp	VAR_042507
9	HFE	p.Arg66Cys	VAR_042508	rs747739169
10	HFE	p.Arg224Gly	VAR_042510
11	HFE	p.Val295Ala	VAR_042511	rs143175221

Sources

Expression for Hemochromatosis, Type 1

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

Sources

Pathways for Hemochromatosis, Type 1

Pathways directly related to Hemochromatosis, Type 1:

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

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

(show all 11)

#	Super pathways	Score	Top Affiliating Genes
1	Transport of inorganic cations/anions and amino acids/oligopeptides ⁶⁶ Show member pathways Amino acid transport across the plasma membrane ⁶⁶ Bicarbonate transporters ⁶⁶ Cation-coupled Chloride cotransporters ⁶⁶ Defective RHAG causes regulator type Rh-null hemolytic anemia (RHN) ⁶⁶ Defective SLC12A1 causes Bartter syndrome 1 (BS1) ⁶⁶ Defective SLC12A3 causes Gitelman syndrome (GS) ⁶⁶ Defective SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN) ⁶⁶ Defective SLC16A1 causes symptomatic deficiency in lactate transport (SDLT) ⁶⁶ Defective SLC17A5 causes Salla disease (SD) and ISSD ⁶⁶ Defective SLC17A8 causes autosomal dominant deafness 25 (DFNA25) ⁶⁶ Defective SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1) ⁶⁶ Defective SLC22A12 causes renal hypouricemia 1 (RHUC1) ⁶⁶ Defective SLC22A18 causes lung cancer (LNCR) and embryonal rhabdomyosarcoma 1 (RMSE1) ⁶⁶ Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP) ⁶⁶ Defective SLC24A4 causes hypomineralized amelogenesis imperfecta (AI) ⁶⁶ Defective SLC24A5 causes oculocutaneous albinism 6 (OCA6) ⁶⁶ Defective SLC26A3 causes congenital secretory chloride diarrhea 1 (DIAR1) ⁶⁶ Defective SLC26A4 causes Pendred syndrome (PDS) ⁶⁶ Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1) ⁶⁶ Defective SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) ⁶⁶ Defective SLC36A2 causes iminoglycinuria (IG) and hyperglycinuria (HG) ⁶⁶ Defective SLC4A4 causes renal tubular acidosis, proximal, with ocular abnormalities and mental retardation (pRTA-OA) ⁶⁶ Defective SLC6A5 causes hyperekplexia 3 (HKPX3) ⁶⁶ Defective SLC9A6 causes X-linked, syndromic mental retardation,, Christianson type (MRXSCH) ⁶⁶ Defective SLC9A9 causes autism 16 (AUTS16) ⁶⁶ Inositol transporters ⁶⁶ Multifunctional anion exchangers ⁶⁶ Na+/Cl- dependent neurotransmitter transporters ⁶⁶ Organic anion transport ⁶⁶ Organic anion transporters ⁶⁶ Organic cation transport ⁶⁶ Organic cation/anion/zwitterion transport ⁶⁶ Proton/oligopeptide cotransporters ⁶⁶ Proton-coupled monocarboxylate transport ⁶⁶ Proton-coupled neutral amino acid transporters ⁶⁶ Rhesus glycoproteins mediate ammonium transport. ⁶⁶ SLC-mediated transmembrane transport ⁶⁶ Sodium/Calcium exchangers ⁶⁶ Sodium/Proton exchangers ⁶⁶ Sodium-coupled phosphate cotransporters ⁶⁶ Sodium-coupled sulphate, di- and tri-carboxylate transporters ⁶⁶ Transport of bile salts and organic acids, metal ions and amine compounds ⁶⁶ Transport of small molecules ⁶⁶ Type II Na+/Pi cotransporters ⁶⁶ Variant SLC6A14 may confer susceptibility towards obesity ⁶⁶	13.17	ACO1 CP CYBRD1 FTL HEPH HFE
2	Glucose / Energy Metabolism ³	12.28	SLC11A2 IREB2 CP ACO1
3	Disorders of transmembrane transporters ⁶⁶ Show member pathways SLC transporter disorders ⁶⁶	12.22	SLC40A1 SLC11A2 HEPH CP
4	Metal ion SLC transporters ⁶⁶ Show member pathways Defective SLC39A4 causes acrodermatitis enteropathica, zinc-deficiency type (AEZ) ⁶⁶ Defective SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum) ⁶⁶ Metallothioneins bind metals ⁶⁶ MTF1 activates gene expression ⁶⁶ Response to metal ions ⁶⁶ Zinc efflux and compartmentalization by the SLC30 family ⁶⁶ Zinc homeostasis ⁷⁴ Zinc influx into cells by the SLC39 gene family ⁶⁶ Zinc transporters ⁶⁶	11.79	SLC40A1 SLC11A2 HEPH CP
5	Insulin receptor recycling ⁶⁶ Show member pathways ATP biosynthesis ⁶¹ Events associated with phagocytolytic activity of PMN cells ⁶⁶ Iron uptake and transport ⁶⁶ melatonin degradation III ⁶¹ ROS and RNS production in phagocytes ⁶⁶ Transferrin endocytosis and recycling ⁶⁶	11.63	TFRC TFR2 TF SLC40A1 SLC11A2 IREB2
6	3q29 copy number variation syndrome ⁷⁴	11.56	TFRC TF SLC40A1 HFE HAMP
7	HIF-1-alpha transcription factor network ⁶¹	11.45	TFRC TF CP
8	Ferroptosis ⁷⁴	11.31	TFRC TF SLC40A1 SLC11A2 IREB2 FTL
9	Hfe effect on hepcidin production ⁷⁴	10.47	HJV HFE HAMP BMP6
10	Iron metabolism in placenta ⁷⁴	10.46	TFR2 SLC40A1 SLC11A2 IREB2 ACO1
11	Defective CP causes aceruloplasminemia (ACERULOP) ⁶⁶ Show member pathways Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages) ⁶⁶	10.03	SLC40A1 CP

Sources

GO Terms for Hemochromatosis, Type 1

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

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

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

(show all 25)

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

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

(show all 12)

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