JHH
MCID: HMC009
MIFTS: 58

Hemochromatosis Type 2 (JHH)

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

Aliases & Classifications for Hemochromatosis Type 2

MalaCards integrated aliases for Hemochromatosis Type 2:

Name: Hemochromatosis Type 2 12 73 25 20 58 6 15
Juvenile Hemochromatosis 12 25 20 58 29 6 70
Juvenile Hereditary Hemochromatosis 25 20
Iron Overload Disease Juvenile 20
Hemochromatosis, Juvenile 54
Hemochromatosis Juvenile 20
Hemochromatosis, Type 1 70
Hemochromatosis, Type 2 44
Hemochromatosis 70
Hfe2 12
Jhh 12

Characteristics:

Orphanet epidemiological data:

58
hemochromatosis type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: young Adult;

Classifications:

Orphanet: 58  
Rare hepatic diseases
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:0111034
MeSH 44 C537247
ICD10 32 E83.1
MESH via Orphanet 45 C537247
ICD10 via Orphanet 33 E83.1
UMLS via Orphanet 71 C0268060
Orphanet 58 ORPHA79230
UMLS 70 C0018995 C0268060 C3469186

Summaries for Hemochromatosis Type 2

GARD : 20 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. People with hemochromatosis type 2 may have heart disease by age 30. Other symptoms may include abdominal pain, diabetes, and skin discoloration. Hemochromatosis type 2 is caused by genetic changes ( mutations 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. Treatment of hemochromatosis type 2 usually involves reducing iron levels by removing blood ( phlebotomy ) or iron chelation. These treatments can prevent additional organ damage but typically do not reverse existing damage. To learn more about other types of hemochromatosis click on the disease names below: Hemochromatosis type 1 Hemochromatosis type 3 Hemochromatosis type 4 Hemochromatosis type 5 Neonatal hemochromatosis

MalaCards based summary : Hemochromatosis Type 2, also known as juvenile hemochromatosis, is related to hemochromatosis, type 2a and hemochromatosis, type 5, 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 Insulin receptor recycling and Metal ion SLC transporters. The drugs Deferasirox and Deferoxamine have been mentioned in the context of this disorder. Affiliated tissues include liver, heart and pancreas, and related phenotypes are congenital hepatic fibrosis and elevated transferrin saturation

Disease Ontology : 12 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.

Wikipedia : 73 Juvenile hemochromatosis is, as its name indicates, a form of hemochromatosis which emerges during... more...

GeneReviews: NBK1170

Related Diseases for Hemochromatosis Type 2

Diseases in the Rare Hereditary Hemochromatosis family:

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

Diseases related to Hemochromatosis Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 81)
# Related Disease Score Top Affiliating Genes
1 hemochromatosis, type 2a 32.6 HJV HAMP
2 hemochromatosis, type 5 32.0 TFR2 HJV HFE BMP6
3 hemochromatosis, type 3 31.4 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 HJV
4 hemochromatosis, type 4 31.2 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 HJV
5 hemochromatosis, type 1 30.8 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 NEO1
6 rare hereditary hemochromatosis 30.7 TFR2 SLC40A1 HJV HFE HAMP
7 hemosiderosis 30.6 TFR2 SLC40A1 SLC11A2 HJV HFE HAMP
8 arthropathy 30.5 HJV HFE HAMP
9 congenital dyserythropoietic anemia 30.2 TFRC HFE HAMP
10 siderosis 30.1 TFRC SLC40A1 HFE HAMP
11 beta-thalassemia 29.9 TMPRSS6 TFRC TFR2 HJV HFE HAMP
12 iron metabolism disease 29.4 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 HJV
13 deficiency anemia 28.8 TMPRSS6 TFRC TFR2 SMAD4 SLC40A1 SLC11A2
14 hemochromatosis, neonatal 11.1
15 hemochromatosis, type 2b 11.1
16 iron-refractory iron deficiency anemia 10.3 TMPRSS6 HJV
17 folic acid deficiency anemia 10.3 TFRC HAMP
18 mineral metabolism disease 10.3 HFE HAMP H2AC18
19 sideroblastic anemia 10.2 TFR2 SLC40A1 HAMP
20 erythrocytosis, familial, 2 10.2 SLC11A2 HAMP CYBRD1
21 telangiectasis 10.2 SMAD4 H2AC18 BMP6
22 anemia, congenital dyserythropoietic, type ia 10.2 TFRC HJV HAMP H2AC18
23 liver cirrhosis 10.2
24 alpha-thalassemia 10.2 TFRC HFE HAMP H2AC18
25 cutaneous porphyria 10.2 HFE HAMP
26 hemoglobinopathy 10.2 TFRC TFR2 HJV HFE HAMP
27 inherited metabolic disorder 10.2 TFR2 HJV HFE HAMP H2AC18
28 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 10.1 SMAD4 ACVR1
29 amenorrhea 10.1
30 congestive heart failure 10.1
31 retinitis pigmentosa 50 10.1 HEPH CYBRD1
32 nutritional deficiency disease 10.1 TMPRSS6 TFRC HJV HAMP H2AC18
33 hypochromic microcytic anemia 10.1 TMPRSS6 TFRC SLC11A2 HJV HAMP
34 iron overload in africa 10.1 TFR2 SLC40A1 HJV HFE HEPH HAMP
35 hyperferritinemia with or without cataract 10.1 TFR2 SLC40A1 SLC11A2 HJV HFE HAMP
36 dowling-degos disease 1 10.1
37 hypogonadism 10.0
38 atrial standstill 1 10.0
39 thalassemia 10.0
40 brain stem cancer 10.0 H2AC18 ACVR1
41 porphyria cutanea tarda 10.0 TFRC TFR2 SLC40A1 HJV HFE HAMP
42 porphyria 10.0 TFRC TFR2 SLC40A1 HJV HFE HAMP
43 colorectal cancer 10.0
44 hyperglycemia 10.0
45 neurodegeneration with brain iron accumulation 10.0 TFRC TFR2 SLC40A1 SLC11A2 HFE HEPH
46 microcytic anemia 9.9 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 HJV
47 anemia, sideroblastic, 1 9.9 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 HJV
48 osteoporosis 9.9
49 anemia, congenital dyserythropoietic, type ii 9.9
50 bone mineral density quantitative trait locus 8 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 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital hepatic fibrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002612
2 elevated transferrin saturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0012463
3 increased circulating ferritin concentration 31 hallmark (90%) HP:0003281
4 diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0000819
5 muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0001324
6 elevated hepatic transaminase 58 31 frequent (33%) Frequent (79-30%) HP:0002910
7 dilated cardiomyopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001644
8 generalized hyperpigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007440
9 lethargy 58 31 frequent (33%) Frequent (79-30%) HP:0001254
10 impotence 58 31 frequent (33%) Frequent (79-30%) HP:0000802
11 hypogonadism 58 31 frequent (33%) Frequent (79-30%) HP:0000135
12 arthropathy 58 31 frequent (33%) Frequent (79-30%) HP:0003040
13 osteoporosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000939
14 abnormality of endocrine pancreas physiology 58 31 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

MGI Mouse Phenotypes related to Hemochromatosis Type 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.07 ACVR1 CLIC4 CYBRD1 HEPH HJV SLC11A2
2 immune system MP:0005387 10 ACVR1 CLIC4 HEPH HFE HJV SLC11A2
3 digestive/alimentary MP:0005381 9.87 ACVR1 HEPH HFE SLC40A1 SMAD4 TFRC
4 integument MP:0010771 9.81 CLIC4 HEPH HJV NEO1 SLC11A2 SLC40A1
5 liver/biliary system MP:0005370 9.65 CYBRD1 HEPH HFE HJV SLC11A2 SLC40A1
6 nervous system MP:0003631 9.36 ACVR1 HEPH HFE HJV NEO1 RGMA

Drugs & Therapeutics for Hemochromatosis Type 2

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

(show all 47)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deferasirox Approved, Investigational Phase 4 201530-41-8 5493381 214348
2
Deferoxamine Approved, Investigational Phase 4 70-51-9 2973
3 Chelating Agents Phase 4
4 Iron Chelating Agents Phase 4
5
Deferiprone Approved Phase 3 30652-11-0 2972
6
Hydroxyurea Approved Phase 3 127-07-1 3657
7 Anti-Infective Agents Phase 2
8 Hepcidins Phase 2
9 Pharmaceutical Solutions Phase 2
10 Antirheumatic Agents Phase 2
11 Interleukin 1 Receptor Antagonist Protein Phase 2
12
Nifedipine Approved Phase 1 21829-25-4 4485
13 Vasodilator Agents Phase 1
14 Hormones Phase 1
15 Tocolytic Agents Phase 1
16 calcium channel blockers Phase 1
17 Calcium, Dietary Phase 1
18
Calcium Nutraceutical Phase 1 7440-70-2 271
19
Pantoprazole Approved 102625-70-7 4679
20
Tacrolimus Approved, Investigational 104987-11-3 445643 439492 6473866
21
Formaldehyde Approved, Vet_approved 50-00-0 712
22
Lidocaine Approved, Vet_approved 137-58-6 3676
23
Iron Approved 7439-89-6 23925 29936
24
Ethanol Approved 64-17-5 702
25 Kava Approved, Investigational, Nutraceutical 9000-38-8
26
Vitamin A Approved, Nutraceutical, Vet_approved 68-26-8, 11103-57-4 445354
27
Aspartic acid Approved, Nutraceutical 56-84-8 5960
28
Trichostatin A Experimental 58880-19-6
29 Gastrointestinal Agents
30 Antacids
31 Anti-Ulcer Agents
32 Proton Pump Inhibitors
33 Immunosuppressive Agents
34 Immunologic Factors
35 Calcineurin Inhibitors
36 Retinol palmitate
37 Anesthetics
38 Anti-Bacterial Agents
39 Antibiotics, Antitubercular
40 retinol
41 Anesthetics, Local
42 Hematinics
43 Liver Extracts
44 Iron Supplement
45 N-Methylaspartate
46
Bilirubin 635-65-4 5280352
47
L-Alanine Nutraceutical 56-41-7 5950

Interventional clinical trials:

(show all 49)
# 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 Erythrocytapheresis Versus Phlebotomy as Maintenance Therapy in Patients With Hereditary Hemochromatosis; a Randomised, Single Blinded Sequential, Cross-over Trial Unknown status NCT01398644 Phase 3
3 Screening of Hepatocellular Carcinoma in Patients With Compensated Cirrhosis. A Randomized Trial Comparing Two Periodicities of Ultrasonographic Surveillance: 3-month vs 6-month Completed NCT00190385 Phase 3
4 Therapeutic Erythrocytapheresis as Treatment for Hemochromatosis Patients. Completed NCT00202436 Phase 3
5 Clinical Management of Hereditary Hemochromatosis: Phlebotomy vs. Erythrocytoapheresis Completed NCT00440986 Phase 2, Phase 3
6 Randomized Open-label Phase III Study With Deferiprone and/or Desferrioxamine in Iron Overloaded Patients Completed NCT00350662 Phase 3 Deferiprone (L1);Desferrioxamine
7 Stroke With Transfusions Changing to Hydroxyurea Terminated NCT00122980 Phase 3 Hydroxyurea
8 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
9 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)
10 Evaluation of Subcutaneous Desferrioxamine as Treatment for Transfusional Hemochromatosis Completed NCT00000595 Phase 2 deferoxamine
11 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
12 Retrospective and Prospective Multicenter Study Using Deferiprone (L1) Alone or in Combination With Desferrioxamine for the Treatment of Iron Overload in Transfusion-dependent Patients Completed NCT00349453 Phase 2 Deferiprone (L1);Deferiprone (L1);Desferrioxamine
13 Open-label Study of PTG-300 in Subjects With Hereditary Hemochromatosis Recruiting NCT04202965 Phase 2 PTG-300
14 Studies of Phlebotomy Therapy in Hereditary Hemochromatosis Recruiting NCT00007150 Phase 2
15 A Phase II, Multicenter, Open-label, Randomized Two-year Study to Evaluate the Efficacy and Safety of Deferasirox Film-coated Tablet Versus Phlebotomy in Patients With Hereditary Hemochromatosis. Recruiting NCT03203850 Phase 2 Deferasirox FCT
16 Treatment of Refractory Hemochromatosis Rheumatism by Anakinra: a Preliminary Phase II Study Terminated NCT02263638 Phase 2 Anakinra
17 Deferasirox Versus Venesection in Patients With Hemochromatosis and for Treatment of Transfusional Siderosis in Myelodysplastic Syndrome: Diagnostics and New Biomarkers. Terminated NCT01892644 Phase 2 Deferasirox;Deferasirox
18 A Trial of Oral Nifedipine for the Treatment of Iron Overload Completed NCT00712738 Phase 1 Nifedipine
19 Therapeutic Effect of Erythrocyte Apheresis as Compared to Full Blood Phlebotomy in Patients With Hereditary Hemochromatosis Unknown status NCT00509652
20 Proton Pump Inhibitors in the Prevention of Iron Reaccumulation in Patient With Hereditary Hemochromatosis Unknown status NCT01524757 Pantoprazole
21 Implications for Quality of Life and Quality of Care in Patients With Hereditary Haemochromatosis Unknown status NCT01991925
22 Evaluation of a New MR Pulse Sequence to Quantify Liver Iron Concentration Completed NCT00587535
23 Impact of Iron Overload in Pediatric Patients Undergoing Stem Cell Transplantation Completed NCT00806715
24 "Factors Associated With Porphyria Cutanea Tarda in Patients Infected With Hepatitis C Virus" Completed NCT00213772
25 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
26 Study of the Association Between Transferrin Saturation and Asthenia in Hemochromatosis Completed NCT03356548
27 Bone Status on Patients With Genetic Hemochromatosis : a 3 Years Descriptive and Evolutionary Study. Completed NCT01556360
28 Hemochromatosis--Genetic Prevalence and Penetrance Completed NCT00006312
29 HEPFER-Evaluation of a New Phenotypic Biological Marker in Genetic Type 1 Hemochromatosis Completed NCT01784939
30 Statistical Basis for Hemochromatosis Screening Completed NCT00005559
31 Hemochromatosis and Iron Overload Screening Study (HEIRS) Completed NCT00005541
32 Clinical Course of Patients With Transfusional Hemochromatosis on Deferoxamine Completed NCT00001203
33 Study of the Cellular Diffusion of Tacrolimus Across the Membrane of Mononuclear Cells Completed NCT03654794
34 Iron Overload in African Americans Completed NCT00001455
35 Haemochromatosis and Periodontitis Completed NCT04006249
36 Mi-Iron - Moderately Increased Iron - is Reducing Iron Overload Necessary? Completed NCT01631708
37 Effects of Polyphenols on Iron Absorption in Iron Overload Disorders. Completed NCT03453918
38 Estimation of Myocardial Iron Overload by 3 Tesla MRI and Cardiac Functional Consequences in Patients With HFE Hereditary Haemochromatosis. Pilot Study Completed NCT02099214
39 Research Network for Neonatal Diseases Induced by Tissular Fetomaternal Alloimmunization Completed NCT00199628
40 Impact of Bloodletting on Iron Metabolism in Type 1 Hemochromatosis: Pathophysiological and Clinical Implications. Pilot Study. Recruiting NCT01810965
41 World Mosquito Program Noumea - Human Sample Component Recruiting NCT03552094
42 Randomized Trial Comparing Endoscopic Ultrasound-guided Liver Biopsy vs. Percutaneous Liver Biopsy Recruiting NCT04003766
43 Repeatability and Reproducibility of Multiparametric MRI (LiverMultiScan) Recruiting NCT03743272
44 Assessment of Liver Fibrosis in Patients With Sickle Cell Disease Active, not recruiting NCT02007746
45 Characterization of Cardiac Function in Subjects With Hereditary Hemochromatosis Who Are New York Heart Association Functional Class I Active, not recruiting NCT00068159
46 Confounder-Corrected Quantitative Magnetic Resonance Imaging (MRI) Biomarker of Hepatic Iron Content Active, not recruiting NCT02025543
47 Testing the Efficacy of a Natural Polyphenol Supplement to Inhibit Dietary Iron Absorption in Subjects With Hereditary Hemochromatosis: a Stable Isotope Study Not yet recruiting NCT03990181
48 MRI-based Quantitative Susceptibility Mapping of Hepatic Iron Overload Not yet recruiting NCT04631718
49 Impact of Transferrin Saturation Guided Maintenance Treatment on Quality of Life in HFE Haemochromatosis Not yet recruiting NCT04779593

Search NIH Clinical Center for Hemochromatosis Type 2

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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 29

Anatomical Context for Hemochromatosis Type 2

MalaCards organs/tissues related to Hemochromatosis Type 2:

40
Liver, Heart, Pancreas, Bone, Brain, Skeletal Muscle, Retina

Publications for Hemochromatosis Type 2

Articles related to Hemochromatosis Type 2:

(show top 50) (show all 213)
# Title Authors PMID Year
1
Severe hemochromatosis in a Portuguese family associated with a new mutation in the 5'-UTR of the HAMP gene. 25 61 54 6
15198949 2004
2
Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. 6 25 54 61
12469120 2003
3
Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. 61 25 6
14982873 2004
4
Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl. 54 6 61
17339196 2007
5
HJV gene mutations in European patients with juvenile hemochromatosis. 61 54 6
15811010 2005
6
Allele frequencies of hemojuvelin gene (HJV) I222N and G320V missense mutations in white and African American subjects from the general Alabama population. 6 61 54
15610558 2004
7
Identification of a novel mutation (C321X) in HJV. 54 61 6
15138164 2004
8
Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis. 25 6
15461631 2004
9
Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin. 61 6 54
14982867 2004
10
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. 54 6 61
14647275 2004
11
Molecular diagnostic and pathogenesis of hereditary hemochromatosis. 6 61
22408404 2012
12
Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome. 6 61
19796184 2009
13
Iron overload in the Asian community. 61 54 25
19342478 2009
14
Juvenile hemochromatosis associated with pathogenic mutations of adult hemochromatosis genes. 54 25 61
15685557 2005
15
Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent. 61 54 25
15147384 2004
16
A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis. 25 54 61
15099344 2004
17
Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population. 6 61
12891378 2003
18
Juvenile hemochromatosis in the southeastern United States: a report of seven cases in two kinships. 6 61
12482411 2002
19
Variable expressivity of HJV related hemochromatosis: "Juvenile" hemochromatosis? 61 25
30389309 2019
20
Juvenile hemochromatosis and hepatocellular carcinoma in a patient with a novel mutation in the HJV gene. 61 25
28363629 2017
21
Transferrin receptor 2 mutations in patients with juvenile hemochromatosis phenotype. 61 25
26408288 2015
22
Loss of central and peripheral CD8+ T-cell tolerance to HFE in mouse models of human familial hemochromatosis. 6
22531912 2012
23
Identification of a novel mutation in the HAMP gene that causes non-detectable hepcidin molecules in a Japanese male patient with juvenile hemochromatosis. 25 61
22297252 2012
24
Effect of HFE variants on sphingolipid expression by SH-SY5Y human neuroblastoma cells. 6
21243428 2011
25
Hereditary hemochromatosis: mutations in genes involved in iron homeostasis in Brazilian patients. 25 61
21411349 2011
26
Genetic screening for HFE hemochromatosis in 6,020 Danish men: penetrance of C282Y, H63D, and S65C variants. 6
19159930 2009
27
HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity. 6
19554541 2009
28
HFE-associated hereditary hemochromatosis. 6
19444013 2009
29
Early age-of-onset iron overload and homozygosity for the novel hemojuvelin mutation HJV R54X (exon 3; c.160A-->T) in an African American male of West Indies descent. 6
18492090 2008
30
Hemochromatosis genotypes and risk of 31 disease endpoints: meta-analyses including 66,000 cases and 226,000 controls. 6
17828789 2007
31
Glucose metabolism, insulin secretion and insulin sensitivity in juvenile hemochromatosis. A case report and review of the literature. 61 25
17427110 2007
32
Osteoporosis in HFE2 juvenile hemochromatosis. A case report and review of the literature. 25 61
15997423 2006
33
Three patients with middle-age-onset hemochromatosis caused by novel mutations in the hemojuvelin gene. 25 61
16099526 2005
34
Juvenile hemochromatosis HJV-related revealed by cardiogenic shock. 25 61
15315789 2004
35
The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype. 6
15254010 2004
36
Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R). 61 25
14630809 2004
37
Arthropathy in juvenile hemochromatosis. 25 61
12528123 2003
38
Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA. 6
11812557 2002
39
Juvenile hemochromatosis associated with B-thalassemia treated by phlebotomy and recombinant human erythropoietin. 61 25
10942934 2000
40
Practical guide to quantification of hepatic iron with MRI. 25
31392478 2020
41
Non-invasive assessment of hepatic fibrosis: comparison of MR elastography to transient elastography and intravoxel incoherent motion diffusion-weighted MRI. 25
31372777 2020
42
Iron overload and arrhythmias: Influence of confounding factors. 25
31410226 2019
43
Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review. 25
31286966 2019
44
Iron Matryoshka-Haemochromatosis nested in Ferroportin Disease? 25
31127686 2019
45
Hepcidin and the BMP-SMAD pathway: An unexpected liaison. 25
30798817 2019
46
Adult onset hereditary hemochromatosis is associated with a novel recurrent Hemojuvelin (HJV) gene mutation in north Indians. 25
30195625 2018
47
Non-HFE mutations in haemochromatosis in China: combination of heterozygous mutations involving HJV signal peptide variants. 25
30166352 2018
48
A severe hemojuvelin mutation leading to late onset of HFE2-hemochromatosis. 25
29764732 2018
49
Haemochromatosis. 25
29620054 2018
50
Structure-function analysis of ferroportin defines the binding site and an alternative mechanism of action of hepcidin. 25
29237594 2018

Variations for Hemochromatosis Type 2

ClinVar genetic disease variations for Hemochromatosis Type 2:

6 (show top 50) (show all 85)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HJV NM_213653.3(HJV):c.665T>A (p.Ile222Asn) SNV Pathogenic 2367 rs74315325 GRCh37: 1:145416320-145416320
GRCh38: 1:146018693-146018693
2 HJV NM_145277.5(HJV):c.503T>C (p.Ile168Thr) SNV Pathogenic 2368 rs74315326 GRCh37: 1:145416497-145416497
GRCh38: 1:146018516-146018516
3 HJV NM_145277.5(HJV):c.-102T>C SNV Pathogenic 2369 rs28940586 GRCh37: 1:145415419-145415419
GRCh38: 1:146019594-146019594
4 HJV NM_145277.5(HJV):c.-38T>C SNV Pathogenic 2370 rs74315327 GRCh37: 1:145415483-145415483
GRCh38: 1:146019530-146019530
5 HJV NM_145277.5(HJV):c.624C>A (p.Cys208Ter) SNV Pathogenic 2371 rs121434374 GRCh37: 1:145416618-145416618
GRCh38: 1:146018395-146018395
6 HJV NM_145277.5(HJV):c.641_642TC[1] (p.Ser215fs) Microsatellite Pathogenic 2372 rs786205063 GRCh37: 1:145416634-145416637
GRCh38: 1:146018373-146018376
7 HJV NM_145277.5(HJV):c.-180A>T SNV Pathogenic 2373 rs121434375 GRCh37: 1:145415341-145415341
GRCh38: 1:146019672-146019672
8 HAMP NM_021175.4(HAMP):c.95del (p.Gly32fs) Deletion Pathogenic 4283 rs1189025914 GRCh37: 19:35775694-35775694
GRCh38: 19:35284791-35284791
9 HAMP NM_021175.4(HAMP):c.166C>T (p.Arg56Ter) SNV Pathogenic 4284 rs104894695 GRCh37: 19:35775856-35775856
GRCh38: 19:35284953-35284953
10 HAMP HAMP, +14G-A, 5-PRIME UTR SNV Pathogenic 4287 GRCh37:
GRCh38:
11 HJV NM_213653.3(HJV):c.959G>T (p.Gly320Val) SNV Pathogenic 2365 rs74315323 GRCh37: 1:145416614-145416614
GRCh38: 1:146018399-146018399
12 HJV NC_000001.10:g.(?_145414693)_(145417545_?)del Deletion Pathogenic 417403 GRCh37: 1:145414693-145417545
GRCh38:
13 HJV NM_213653.3(HJV):c.1006G>T (p.Gly336Ter) SNV Pathogenic 560162 rs1553769428 GRCh37: 1:145416661-145416661
GRCh38: 1:146018352-146018352
14 overlap with 4 genes NC_000001.10:g.(?_145414782)_(145474819_?)del Deletion Pathogenic 583553 GRCh37: 1:145414782-145474819
GRCh38:
15 HJV NM_145277.5(HJV):c.358del (p.Gln120fs) Deletion Pathogenic 590920 rs1559279177 GRCh37: 1:145416352-145416352
GRCh38: 1:146018661-146018661
16 HAMP NM_021175.4(HAMP):c.176G>C (p.Arg59Pro) SNV Pathogenic 917401 GRCh37: 19:35775866-35775866
GRCh38: 19:35284963-35284963
17 HJV NM_213653.4(HJV):c.-89-1G>C SNV Pathogenic 1031845 GRCh37: 1:145414692-145414692
GRCh38: 1:146020321-146020321
18 HJV NM_213653.3(HJV):c.950G>A (p.Cys317Tyr) SNV Likely pathogenic 694655 rs1553769457 GRCh37: 1:145416605-145416605
GRCh38: 1:146018408-146018408
19 HFE NM_000410.3(HFE):c.845G>A (p.Cys282Tyr) SNV risk factor 9 rs1800562 GRCh37: 6:26093141-26093141
GRCh38: 6:26092913-26092913
20 HJV NM_213653.3(HJV):c.238T>G (p.Cys80Gly) SNV Likely pathogenic 216012 rs28940586 GRCh37: 1:145415419-145415419
GRCh38: 1:146019594-146019594
21 HJV NM_213653.3(HJV):c.497A>G (p.His166Arg) SNV Conflicting interpretations of pathogenicity 545472 rs1553769663 GRCh37: 1:145415678-145415678
GRCh38: 1:146019335-146019335
22 HAMP NM_021175.4(HAMP):c.223C>G (p.Arg75Gly) SNV Uncertain significance 891880 GRCh37: 19:35775913-35775913
GRCh38: 19:35285010-35285010
23 HAMP NM_021175.4(HAMP):c.252G>A (p.Thr84=) SNV Uncertain significance 219770 rs150121265 GRCh37: 19:35775942-35775942
GRCh38: 19:35285039-35285039
24 HJV NM_213653.3(HJV):c.1264T>C (p.Trp422Arg) SNV Uncertain significance 216846 rs863224818 GRCh37: 1:145416919-145416919
GRCh38: 1:146018094-146018094
25 HJV NM_213653.3(HJV):c.976C>T (p.Arg326Ter) SNV Uncertain significance 2366 rs74315324 GRCh37: 1:145416631-145416631
GRCh38: 1:146018382-146018382
26 HJV NM_145277.5(HJV):c.-151_-149AGG[5] Microsatellite Uncertain significance 292419 rs587644102 GRCh37: 1:145415369-145415371
GRCh38: 1:146019626-146019628
27 HJV NM_213653.3(HJV):c.-248del Deletion Uncertain significance 292415 rs886045234 GRCh37: 1:145413263-145413263
GRCh38: 1:146021745-146021745
28 HAMP NM_021175.3(HAMP):c.-67G>C SNV Uncertain significance 328835 rs886054342 GRCh37: 19:35773414-35773414
GRCh38: 19:35282511-35282511
29 HJV NM_213653.3(HJV):c.749G>T (p.Gly250Val) SNV Uncertain significance 216847 rs863224819 GRCh37: 1:145416404-145416404
GRCh38: 1:146018609-146018609
30 HJV NM_213653.3(HJV):c.1113C>T (p.Pro371=) SNV Uncertain significance 292432 rs886045239 GRCh37: 1:145416768-145416768
GRCh38: 1:146018245-146018245
31 HJV NM_213653.3(HJV):c.522T>C (p.His174=) SNV Uncertain significance 292426 rs587646422 GRCh37: 1:145415703-145415703
GRCh38: 1:146019310-146019310
32 HJV NM_213653.3(HJV):c.-203C>T SNV Uncertain significance 292416 rs781908480 GRCh37: 1:145413313-145413313
GRCh38: 1:146021700-146021700
33 HJV NM_213653.3(HJV):c.*288A>C SNV Uncertain significance 292435 rs886045241 GRCh37: 1:145417224-145417224
GRCh38: 1:146017789-146017789
34 HJV NM_213653.3(HJV):c.201A>C (p.Gly67=) SNV Uncertain significance 292421 rs782445206 GRCh37: 1:145415382-145415382
GRCh38: 1:146019631-146019631
35 HJV NM_213653.3(HJV):c.409G>A (p.Gly137Ser) SNV Uncertain significance 292424 rs587719388 GRCh37: 1:145415590-145415590
GRCh38: 1:146019423-146019423
36 HJV NM_213653.3(HJV):c.559G>T (p.Val187Phe) SNV Uncertain significance 292427 rs886045238 GRCh37: 1:145415740-145415740
GRCh38: 1:146019273-146019273
37 HJV NM_213653.3(HJV):c.1254C>G (p.Leu418=) SNV Uncertain significance 292433 rs886045240 GRCh37: 1:145416909-145416909
GRCh38: 1:146018104-146018104
38 HJV NM_213653.3(HJV):c.-154C>T SNV Uncertain significance 292417 rs886045235 GRCh37: 1:145413362-145413362
GRCh38: 1:146021651-146021651
39 HJV NM_213653.3(HJV):c.286A>T (p.Thr96Ser) SNV Uncertain significance 292422 rs782480409 GRCh37: 1:145415467-145415467
GRCh38: 1:146019546-146019546
40 HJV NM_213653.3(HJV):c.756C>T (p.Ile252=) SNV Uncertain significance 292428 rs148524451 GRCh37: 1:145416411-145416411
GRCh38: 1:146018602-146018602
41 HJV NM_213653.3(HJV):c.435G>C (p.Pro145=) SNV Uncertain significance 292425 rs370184725 GRCh37: 1:145415616-145415616
GRCh38: 1:146019397-146019397
42 HAMP NM_021175.4(HAMP):c.-1G>A SNV Uncertain significance 328836 rs149146279 GRCh37: 19:35773480-35773480
GRCh38: 19:35282577-35282577
43 HJV NM_213653.3(HJV):c.986G>C (p.Arg329Pro) SNV Uncertain significance 292431 rs782614415 GRCh37: 1:145416641-145416641
GRCh38: 1:146018372-146018372
44 HJV NM_145277.5(HJV):c.361_363del (p.Lys121del) Deletion Uncertain significance 639262 rs1553769521 GRCh37: 1:145416353-145416355
GRCh38: 1:146018656-146018658
45 HJV NM_213653.3(HJV):c.442T>A (p.Cys148Ser) SNV Uncertain significance 662092 rs782741141 GRCh37: 1:145415623-145415623
GRCh38: 1:146019390-146019390
46 HJV NC_000001.11:g.146021819C>T SNV Uncertain significance 874028 GRCh37: 1:145413194-145413194
GRCh38: 1:146021819-146021819
47 HJV NC_000001.11:g.146021778A>G SNV Uncertain significance 874029 GRCh37: 1:145413235-145413235
GRCh38: 1:146021778-146021778
48 HJV NC_000001.11:g.146021740G>A SNV Uncertain significance 874030 GRCh37: 1:145413273-145413273
GRCh38: 1:146021740-146021740
49 HJV NM_213653.4(HJV):c.977G>A (p.Arg326Gln) SNV Uncertain significance 874084 GRCh37: 1:145416632-145416632
GRCh38: 1:146018381-146018381
50 HJV NM_213653.4(HJV):c.994C>T (p.Arg332Cys) SNV Uncertain significance 874085 GRCh37: 1:145416649-145416649
GRCh38: 1:146018364-146018364

Expression for Hemochromatosis Type 2

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

Pathways for Hemochromatosis Type 2

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 TMPRSS6 TFRC TFR2 SLC40A1 SLC11A2 RGMB
2 integral component of plasma membrane GO:0005887 9.91 TFRC TFR2 SLC40A1 SLC11A2 NEO1 HFE
3 recycling endosome GO:0055037 9.61 TFRC SLC11A2 HFE
4 basal part of cell GO:0045178 9.4 SLC11A2 HFE
5 plasma membrane protein complex GO:0098797 9.32 NEO1 HJV
6 BMP receptor complex GO:0070724 9.26 HJV ACVR1
7 apical part of cell GO:0045177 9.26 SLC11A2 HFE CLIC4 ACVR1
8 HFE-transferrin receptor complex GO:1990712 8.92 TFRC TFR2 HJV HFE

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.08 TMPRSS6 TFR2 SMAD4 RGMA HJV HAMP
2 ion transport GO:0006811 10 SLC40A1 SLC11A2 HFE HEPH CLIC4
3 BMP signaling pathway GO:0030509 9.8 SMAD4 RGMB RGMA HJV HFE BMP6
4 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.76 SMAD4 HFE BMP6 ACVR1
5 cellular response to BMP stimulus GO:0071773 9.71 SMAD4 HJV BMP6 ACVR1
6 acute-phase response GO:0006953 9.7 TFR2 HFE HAMP
7 transferrin transport GO:0033572 9.69 TFRC TFR2 HFE
8 iron ion transport GO:0006826 9.67 TFRC TFR2 SLC11A2 HEPH
9 response to iron ion GO:0010039 9.63 TFR2 SLC11A2 HFE HAMP CYBRD1 BMP6
10 multicellular organismal iron ion homeostasis GO:0060586 9.62 SLC40A1 SLC11A2 HAMP BMP6
11 cellular response to iron ion GO:0071281 9.61 TFR2 HFE BMP6
12 iron ion homeostasis GO:0055072 9.61 TMPRSS6 TFR2 SLC40A1 SLC11A2 NEO1 HJV
13 activin receptor signaling pathway GO:0032924 9.6 HJV ACVR1
14 positive regulation of SMAD protein signal transduction GO:0060391 9.59 SMAD4 BMP6
15 gastrulation with mouth forming second GO:0001702 9.58 SMAD4 ACVR1
16 copper ion transport GO:0006825 9.58 SLC11A2 HEPH
17 positive regulation of peptide hormone secretion GO:0090277 9.57 TFR2 HFE
18 negative regulation of receptor binding GO:1900121 9.56 RGMA HFE
19 iron ion transmembrane transport GO:0034755 9.55 SLC40A1 SLC11A2
20 divalent inorganic cation transport GO:0072511 9.54 SLC40A1 SLC11A2
21 response to iron ion starvation GO:1990641 9.49 HFE HAMP
22 cellular iron ion homeostasis GO:0006879 9.4 TMPRSS6 TFRC TFR2 SMAD4 SLC40A1 SLC11A2

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

# Name GO ID Score Top Affiliating Genes
1 coreceptor activity GO:0015026 9.43 RGMB RGMA HJV
2 iron ion transmembrane transporter activity GO:0005381 9.37 SLC40A1 SLC11A2
3 ferrous iron transmembrane transporter activity GO:0015093 9.32 SLC40A1 SLC11A2
4 transferrin receptor activity GO:0004998 9.16 TFRC TFR2
5 co-receptor binding GO:0039706 9.13 TFR2 NEO1 HFE
6 transferrin receptor binding GO:1990459 8.8 RGMA HJV HFE

Sources for Hemochromatosis Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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