JHH
MCID: HMC009
MIFTS: 56

Hemochromatosis Type 2 (JHH)

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Hemochromatosis Type 2

MalaCards integrated aliases for Hemochromatosis Type 2:

Name: Hemochromatosis Type 2 11 24 19 58 75 5 14
Juvenile Hemochromatosis 11 24 19 58 28 5 71 75
Juvenile Hereditary Hemochromatosis 24 19
Iron Overload Disease Juvenile 19
Hemochromatosis, Juvenile 53
Hemochromatosis Juvenile 19
Hemochromatosis, Type 1 71
Hemochromatosis, Type 2 43
Hemochromatosis 71
Hfe2 11
Jhh 11

Characteristics:


Inheritance:

Autosomal recessive 58

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

Childhood 58

Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 11 DOID:0111034
MeSH 43 C537247
ICD10 31 E83.1
MESH via Orphanet 44 C537247
ICD10 via Orphanet 32 E83.1
UMLS via Orphanet 72 C0268060
Orphanet 58 ORPHA79230
UMLS 71 C0018995 C0268060 C3469186

Summaries for Hemochromatosis Type 2

GARD: 19 Hemochromatosis type 2 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. Symptoms of Hemochromatosis type 2 typically begin during childhood. Early symptoms of Hemochromatosis type 2 typically include liver disease, heart disease, and low levels of sex hormones. Having low levels of sex hormones can cause women to stop having their monthly periods and men to have delayed puberty. Other symptoms may include abdominal pain, diabetes, and skin discoloration. Hemochromatosis type 2 is caused by genetic changes (genetic changes or pathogenic variants) to the HFE2 (HJV) or HAMP genes. The disease is inherited in an autosomal recessive manner. A diagnosis of Hemochromatosis type 2 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.

MalaCards based summary: Hemochromatosis Type 2, also known as juvenile hemochromatosis, is related to hemochromatosis, type 2b and arthropathy, and has symptoms including nausea and vomiting, constipation and abdominal pain. An important gene associated with Hemochromatosis Type 2 is HJV (Hemojuvelin BMP Co-Receptor), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Insulin receptor recycling. The drugs Iron and Deferiprone have been mentioned in the context of this disorder. Affiliated tissues include liver, pancreas and heart, and related phenotypes are congenital hepatic fibrosis and elevated transferrin saturation

Disease Ontology: 11 A hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis.

Orphanet: 58 Hemochromatosis type 2 (juvenile) is the early-onset and most severe form of rare hereditary hemochromatosis (HH; see this term), a group of diseases characterized by excessive tissue iron deposition of genetic origin.

Wikipedia: 75 Juvenile hemochromatosis, also known as hemochromatosis type 2, is a rare form of hereditary... more...

GeneReviews: NBK1170

Related Diseases for Hemochromatosis Type 2

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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 96)
# Related Disease Score Top Affiliating Genes
1 hemochromatosis, type 2b 32.2 TFR2 HJV HFE HAMP
2 arthropathy 30.4 HJV HFE HAMP BMP2
3 congenital dyserythropoietic anemia 30.3 HFE HAMP ERFE
4 siderosis 30.0 TFRC SLC40A1 HFE HAMP
5 hemolytic anemia 29.7 TMPRSS6 TFRC HFE HAMP ERFE
6 iron overload 29.7 TFR2 SLC40A1 SLC11A2 HJV HFE HAMP
7 thalassemia 29.6 TMPRSS6 TFRC TFR2 SLC40A1 HJV HFE
8 hemochromatosis, type 3 29.3 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 HJV
9 hemochromatosis, type 4 29.1 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 HJV
10 beta-thalassemia 29.0 TMPRSS6 TFRC TFR2 IREB2 HJV HFE
11 iron metabolism disease 28.9 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 IREB2
12 deficiency anemia 28.2 TMPRSS6 TFRC TFR2 SMAD4 SLC40A1 SLC11A2
13 hemochromatosis, type 1 27.8 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 RGMB
14 hemochromatosis, type 2a 11.5
15 rare hereditary hemochromatosis 11.1
16 hemochromatosis, type 5 10.2 TFR2 HJV HFE
17 iron-refractory iron deficiency anemia 10.2 TMPRSS6 HJV
18 liver cirrhosis 10.2
19 osteoarthritis 10.2
20 anemia of prematurity 10.2 TFRC HAMP
21 autosomal dominant beta thalassemia 10.2 TFR2 HJV HFE HAMP
22 amenorrhea 10.1
23 neonatal anemia 10.1 TFRC HAMP ERFE
24 hemoglobin h disease 10.1 TFRC HAMP ERFE
25 cardiomyopathy, familial restrictive, 3 10.1 BMP6 BMP2
26 congenital hemolytic anemia 10.1 TFRC HAMP ERFE
27 congestive heart failure 10.1
28 anemia, congenital dyserythropoietic, type ia 10.1 TFRC HJV HAMP ERFE
29 alpha-thalassemia 10.1 TMPRSS6 TFRC HFE HAMP
30 alpha-1-antitrypsin deficiency 10.1 IREB2 HFE HAMP
31 hereditary spherocytosis 10.1 TFRC HFE HAMP ERFE
32 anemia, congenital dyserythropoietic, type ii 10.0
33 hypogonadism 10.0
34 fibrodysplasia ossificans progressiva 10.0 BMP6 BMP2 ACVR1
35 nutritional deficiency disease 10.0 TMPRSS6 TFRC SLC11A2 HJV HAMP
36 cutaneous porphyria 10.0 HFE HAMP
37 spastic paraplegia 38, autosomal dominant 10.0 TFRC IREB2 ACO1
38 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 10.0 SMAD4 ACVR1
39 neurodegeneration with brain iron accumulation 3 10.0 SLC11A2 IREB2 ACO1
40 erythrocytosis, familial, 2 10.0 SLC11A2 HAMP CYBRD1 ACO1
41 acute porphyria 10.0 IREB2 HFE HAMP ACO1
42 diffuse idiopathic skeletal hyperostosis 9.9 BMP2 ACVR1
43 hereditary hemorrhagic telangiectasia 9.9 SMAD4 BMP6 ACVR1
44 hfe hemochromatosis 9.9
45 hemoglobinopathy 9.9 TMPRSS6 TFRC TFR2 HFE HAMP ERFE
46 hypogonadotropic hypogonadism 7 with or without anosmia 9.9
47 osteoporosis 9.9
48 bone mineral density quantitative trait locus 8 9.9
49 bone mineral density quantitative trait locus 15 9.9
50 hypogonadotropic hypogonadism 9.9

Graphical network of the top 20 diseases related to Hemochromatosis Type 2:



Diseases related to Hemochromatosis Type 2

Symptoms & Phenotypes for Hemochromatosis Type 2

Human phenotypes related to Hemochromatosis Type 2:

58 30 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital hepatic fibrosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002612
2 elevated transferrin saturation 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012463
3 increased circulating ferritin concentration 30 Hallmark (90%) HP:0003281
4 diabetes mellitus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000819
5 muscle weakness 58 30 Frequent (33%) Frequent (79-30%)
HP:0001324
6 elevated hepatic transaminase 58 30 Frequent (33%) Frequent (79-30%)
HP:0002910
7 dilated cardiomyopathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0001644
8 generalized hyperpigmentation 58 30 Frequent (33%) Frequent (79-30%)
HP:0007440
9 lethargy 58 30 Frequent (33%) Frequent (79-30%)
HP:0001254
10 impotence 58 30 Frequent (33%) Frequent (79-30%)
HP:0000802
11 hypogonadism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000135
12 arthropathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0003040
13 osteoporosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000939
14 abnormality of endocrine pancreas physiology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012093
15 abnormality of iron homeostasis 58 Very frequent (99-80%)
16 increased serum ferritin 58 Very frequent (99-80%)

UMLS symptoms related to Hemochromatosis Type 2:


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

GenomeRNAi Phenotypes related to Hemochromatosis Type 2 according to GeneCards Suite gene sharing:

25 (show all 20)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.66 BMP6
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.66 BMP6
3 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.66 ACVR1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-133 9.66 ACVR1
5 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.66 BMP6
6 Increased shRNA abundance (Z-score > 2) GR00366-A-160 9.66 ACVR1
7 Increased shRNA abundance (Z-score > 2) GR00366-A-173 9.66 ACO1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-181 9.66 BMP6
9 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.66 BMP6
10 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.66 ACVR1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.66 BMP6
12 Increased shRNA abundance (Z-score > 2) GR00366-A-53 9.66 BMP6
13 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.66 ACVR1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-66 9.66 ACVR1 BMP6
15 Increased shRNA abundance (Z-score > 2) GR00366-A-76 9.66 BMP6
16 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.66 ACVR1
17 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.66 ACO1
18 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.66 ACVR1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.66 ACVR1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-95 9.66 ACO1 BMP6

MGI Mouse Phenotypes related to Hemochromatosis Type 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.36 ACO1 ACVR1 BMP2 BMP6 CYBRD1 ERFE
2 nervous system MP:0003631 10.29 ACVR1 BMP2 BMP6 HFE HJV IREB2
3 liver/biliary system MP:0005370 10.23 CYBRD1 ERFE HAMP HFE HJV IREB2
4 cardiovascular system MP:0005385 10.11 ACVR1 BMP2 BMP6 HJV IREB2 SLC11A2
5 digestive/alimentary MP:0005381 10.1 ACVR1 BMP2 BMP6 HFE IREB2 SLC40A1
6 immune system MP:0005387 10.1 ACVR1 BMP2 HAMP HFE HJV IREB2
7 hematopoietic system MP:0005397 10.03 ACO1 BMP2 BMP6 ERFE HAMP HFE
8 skeleton MP:0005390 9.96 ACVR1 BMP2 BMP6 HFE IREB2 RGMA
9 mortality/aging MP:0010768 9.86 ACO1 ACVR1 BMP2 ERFE HAMP HFE
10 integument MP:0010771 9.28 BMP6 HJV IREB2 NEO1 SLC11A2 SLC40A1

Drugs & Therapeutics for Hemochromatosis Type 2

Drugs for Hemochromatosis Type 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

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

Interventional clinical trials:

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

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


deferoxamine mesylate

Cochrane evidence based reviews: hemochromatosis, type 2

Genetic Tests for Hemochromatosis Type 2

Genetic tests related to Hemochromatosis Type 2:

# Genetic test Affiliating Genes
1 Juvenile Hemochromatosis 28

Anatomical Context for Hemochromatosis Type 2

Organs/tissues related to Hemochromatosis Type 2:

MalaCards : Liver, Pancreas, Heart, Skin, Bone, Skeletal Muscle, Pancreatic Islet

Publications for Hemochromatosis Type 2

Articles related to Hemochromatosis Type 2:

(show top 50) (show all 254)
# Title Authors PMID Year
1
Iron overload in the Asian community. 53 62 24
19342478 2009
2
Juvenile hemochromatosis associated with pathogenic mutations of adult hemochromatosis genes. 53 62 24
15685557 2005
3
Severe hemochromatosis in a Portuguese family associated with a new mutation in the 5'-UTR of the HAMP gene. 53 62 24
15198949 2004
4
Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent. 53 62 24
15147384 2004
5
A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis. 53 62 24
15099344 2004
6
Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. 53 62 24
12469120 2003
7
Variable expressivity of HJV related hemochromatosis: "Juvenile" hemochromatosis? 62 24
30389309 2019
8
A severe hemojuvelin mutation leading to late onset of HFE2-hemochromatosis. 62 24
29764732 2018
9
Juvenile hemochromatosis and hepatocellular carcinoma in a patient with a novel mutation in the HJV gene. 62 24
28363629 2017
10
Clinical evaluation of a hemochromatosis next-generation sequencing gene panel. 62 24
27753142 2017
11
The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data. 62 24
26633544 2016
12
Transferrin receptor 2 mutations in patients with juvenile hemochromatosis phenotype. 62 24
26408288 2015
13
Loss of central and peripheral CD8+ T-cell tolerance to HFE in mouse models of human familial hemochromatosis. 5
22531912 2012
14
Identification of a novel mutation in the HAMP gene that causes non-detectable hepcidin molecules in a Japanese male patient with juvenile hemochromatosis. 62 24
22297252 2012
15
Effect of HFE variants on sphingolipid expression by SH-SY5Y human neuroblastoma cells. 5
21243428 2011
16
Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients. 62 24
21411349 2011
17
Genetic screening for HFE hemochromatosis in 6,020 Danish men: penetrance of C282Y, H63D, and S65C variants. 5
19159930 2009
18
HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity. 5
19554541 2009
19
HFE-associated hereditary hemochromatosis. 5
19444013 2009
20
Hemochromatosis genotypes and risk of 31 disease endpoints: meta-analyses including 66,000 cases and 226,000 controls. 5
17828789 2007
21
Glucose metabolism, insulin secretion and insulin sensitivity in juvenile hemochromatosis. A case report and review of the literature. 62 24
17427110 2007
22
Osteoporosis in HFE2 juvenile hemochromatosis. A case report and review of the literature. 62 24
15997423 2006
23
Three patients with middle-age-onset hemochromatosis caused by novel mutations in the hemojuvelin gene. 62 24
16099526 2005
24
Juvenile hemochromatosis HJV-related revealed by cardiogenic shock. 62 24
15315789 2004
25
Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. 62 24
14982873 2004
26
Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R). 62 24
14630809 2004
27
Arthropathy in juvenile hemochromatosis. 62 24
12528123 2003
28
Natural history of juvenile haemochromatosis. 62 24
12060140 2002
29
Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA. 5
11812557 2002
30
Juvenile hemochromatosis associated with B-thalassemia treated by phlebotomy and recombinant human erythropoietin. 62 24
10942934 2000
31
Practical guide to quantification of hepatic iron with MRI. 24
31392478 2020
32
Non-invasive assessment of hepatic fibrosis: comparison of MR elastography to transient elastography and intravoxel incoherent motion diffusion-weighted MRI. 24
31372777 2020
33
Iron overload and arrhythmias: Influence of confounding factors. 24
31410226 2019
34
Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review. 24
31286966 2019
35
Iron Matryoshka-Haemochromatosis nested in Ferroportin Disease? 24
31127686 2019
36
Hepcidin and the BMP-SMAD pathway: An unexpected liaison. 24
30798817 2019
37
Adult onset hereditary hemochromatosis is associated with a novel recurrent Hemojuvelin (HJV) gene mutation in north Indians. 24
30195625 2018
38
Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants. 24
30166352 2018
39
Haemochromatosis. 24
29620054 2018
40
Structure-function analysis of ferroportin defines the binding site and an alternative mechanism of action of hepcidin. 24
29237594 2018
41
Current understanding of iron homeostasis. 24
29070551 2017
42
Ferroportin disease: pathogenesis, diagnosis and treatment. 24
29101207 2017
43
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 24
28959963 2017
44
The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies. 24
28349240 2017
45
Iron overload patients with unknown etiology from national survey in Japan. 24
27848180 2017
46
A Red Carpet for Iron Metabolism. 24
28129536 2017
47
How we manage patients with hereditary haemochromatosis. 24
27723100 2016
48
Next-generation sequencing of hereditary hemochromatosis-related genes: Novel likely pathogenic variants found in the Portuguese population. 24
27667161 2016
49
Endocrine dysfunction in hereditary hemochromatosis. 24
26951056 2016
50
Iron Regulation of Pancreatic Beta-Cell Functions and Oxidative Stress. 24
27146016 2016

Variations for Hemochromatosis Type 2

ClinVar genetic disease variations for Hemochromatosis Type 2:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HJV NM_213653.4(HJV):c.950G>A (p.Cys317Tyr) SNV Likely Pathogenic
694655 rs1553769457 GRCh37: 1:145416605-145416605
GRCh38: 1:146018408-146018408
2 HFE NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) SNV Risk Factor
9 rs1800562 GRCh37: 6:26093141-26093141
GRCh38: 6:26092913-26092913
3 HJV NM_213653.4(HJV):c.189AGG[5] (p.Gly69del) MICROSAT Uncertain Significance
292419 rs587644102 GRCh37: 1:145415369-145415371
GRCh38: 1:146019626-146019628
4 HAMP NM_021175.3(HAMP):c.-67G>C SNV Uncertain Significance
328835 rs886054342 GRCh37: 19:35773414-35773414
GRCh38: 19:35282511-35282511
5 HJV NM_145277.4(HJV):c.-406delC DEL Uncertain Significance
292415 rs886045234 GRCh37: 1:145413263-145413263
GRCh38: 1:146021745-146021745

Expression for Hemochromatosis Type 2

Search GEO for disease gene expression data for Hemochromatosis Type 2.

Pathways for Hemochromatosis Type 2

Pathways related to Hemochromatosis Type 2 according to GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.14 TFRC TFR2 SLC40A1 SLC11A2 IREB2 HFE
2
Show member pathways
11.99 TFRC TFR2 SLC40A1 SLC11A2 IREB2 HFE
3
Show member pathways
11.76 HJV NEO1 RGMA RGMB
4 11.57 TFRC SMAD4 IREB2
5 11.56 SMAD4 BMP6 BMP2
6
Show member pathways
11.43 SMAD4 BMP6 BMP2
7 11.43 TFRC SLC40A1 SLC11A2 IREB2
8 11.35 TFRC SLC40A1 HFE HAMP
9 10.87 SMAD4 BMP2
10 10.59 SMAD4 BMP2
11 10.41 SMAD4 ACVR1
12 10.26 TFR2 SLC40A1 SLC11A2 IREB2 ACO1
13 9.87 TMPRSS6 HJV HFE HAMP BMP6

GO Terms for Hemochromatosis Type 2

Cellular components related to Hemochromatosis Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.18 TFRC TFR2 SLC40A1 SLC11A2 NEO1 HFE
2 plasma membrane GO:0005887 10.18 TFRC TFR2 SLC40A1 SLC11A2 NEO1 HFE
3 obsolete anchored component of membrane GO:0031225 9.43 RGMB RGMA HJV
4 BMP receptor complex GO:0070724 9.43 HJV BMP2 ACVR1
5 HFE-transferrin receptor complex GO:1990712 9.23 TFRC TFR2 HJV HFE

Biological processes related to Hemochromatosis Type 2 according to GeneCards Suite gene sharing:

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.51 ACVR1 BMP2 BMP6 HAMP HJV RGMA
2 transcription by RNA polymerase II GO:0006366 10.26 SMAD4 SLC40A1 HJV HAMP BMP2
3 response to hypoxia GO:0001666 10.21 BMP2 SLC11A2 SMAD4 TFRC
4 BMP signaling pathway GO:0030509 10.21 ACVR1 BMP2 BMP6 HFE HJV RGMA
5 establishment of localization in cell GO:0051649 10.15 SLC40A1 SLC11A2 IREB2 HAMP ERFE
6 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 10.13 SMAD4 HFE BMP6 BMP2 ACVR1
7 positive regulation of osteoblast differentiation GO:0045669 10.11 BMP6 BMP2 ACVR1
8 cellular response to BMP stimulus GO:0071773 10.1 ACVR1 BMP2 BMP6 HJV SMAD4
9 cellular iron ion homeostasis GO:0006879 10.1 TFR2 SMAD4 SLC40A1 SLC11A2 IREB2 HJV
10 SMAD protein signal transduction GO:0060395 10.09 SMAD4 BMP6 BMP2
11 positive regulation of bone mineralization GO:0030501 10.07 BMP6 BMP2 ACVR1
12 osteoclast differentiation GO:0030316 10.06 TFRC IREB2 BMP2
13 acute-phase response GO:0006953 10.04 HAMP TFR2 TFRC
14 iron ion transport GO:0006826 10.02 TFRC TFR2 SLC40A1 SLC11A2 IREB2
15 multicellular organismal iron ion homeostasis GO:0060586 10.02 SLC40A1 SLC11A2 HFE HAMP BMP6
16 activin receptor signaling pathway GO:0032924 10.01 SMAD4 HJV ACVR1
17 positive regulation of SMAD protein signal transduction GO:0060391 10 SMAD4 BMP6 BMP2
18 response to iron ion GO:0010039 9.97 TFRC TFR2 SLC11A2 HFE HAMP CYBRD1
19 iron ion transmembrane transport GO:0034755 9.95 HAMP SLC11A2 SLC40A1
20 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus GO:1901522 9.93 SMAD4 BMP2
21 positive regulation of peptide hormone secretion GO:0090277 9.93 TFR2 HFE
22 cellular response to iron ion GO:0071281 9.93 TFR2 HFE BMP6
23 transferrin transport GO:0033572 9.92 TFRC TFR2
24 negative regulation of receptor binding GO:1900121 9.91 RGMA HFE
25 BMP signaling pathway involved in heart development GO:0061312 9.9 BMP2 ACVR1
26 citrate metabolic process GO:0006101 9.88 IREB2 ACO1
27 response to iron ion starvation GO:1990641 9.85 HFE HAMP
28 iron ion homeostasis GO:0055072 9.58 CYBRD1 HAMP HFE HJV IREB2 NEO1

Molecular functions related to Hemochromatosis Type 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 SMAD binding GO:0046332 9.85 SMAD4 BMP2 ACVR1
2 coreceptor activity GO:0015026 9.85 RGMB RGMA HJV
3 iron ion transmembrane transporter activity GO:0005381 9.73 SLC40A1 SLC11A2
4 ferrous iron transmembrane transporter activity GO:0015093 9.71 SLC40A1 SLC11A2
5 aconitate hydratase activity GO:0003994 9.62 ACO1 IREB2
6 iron-responsive element binding GO:0030350 9.56 ACO1 IREB2
7 transferrin receptor activity GO:0004998 9.46 TFRC TFR2
8 transferrin receptor binding GO:1990459 9.43 RGMA HJV HFE
9 co-receptor binding GO:0039706 9.23 TFR2 NEO1 HFE BMP2

Sources for Hemochromatosis Type 2

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