MCID: JVN024
MIFTS: 32

Juvenile Hereditary Hemochromatosis

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

Aliases & Classifications for Juvenile Hereditary Hemochromatosis

MalaCards integrated aliases for Juvenile Hereditary Hemochromatosis:

Name: Juvenile Hereditary Hemochromatosis 24
Hemochromatosis, Type 1 72
Hemochromatosis, Type 2 24
Hemochromatosis 72

Classifications:



External Ids:

UMLS 72 C0018995 C3469186

Summaries for Juvenile Hereditary Hemochromatosis

MalaCards based summary : Juvenile Hereditary Hemochromatosis, also known as hemochromatosis, type 1, is related to hemochromatosis type 2 and hemochromatosis, type 3, and has symptoms including nausea and vomiting, constipation and abdominal pain. An important gene associated with Juvenile Hereditary Hemochromatosis is HAMP (Hepcidin Antimicrobial Peptide), and among its related pathways/superpathways is Hfe effect on hepcidin production. The drugs Omeprazole and Deferiprone have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and kidney.

GeneReviews: NBK1170

Related Diseases for Juvenile Hereditary Hemochromatosis

Graphical network of the top 20 diseases related to Juvenile Hereditary Hemochromatosis:



Diseases related to Juvenile Hereditary Hemochromatosis

Symptoms & Phenotypes for Juvenile Hereditary Hemochromatosis

UMLS symptoms related to Juvenile Hereditary Hemochromatosis:


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

Drugs & Therapeutics for Juvenile Hereditary Hemochromatosis

Drugs for Juvenile Hereditary Hemochromatosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

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

Interventional clinical trials:

(show top 50) (show all 87)
# Name Status NCT ID Phase Drugs
1 Evaluation of the Efficacy in Decreasing Iron Absorption in Patients With Congenital Dyserythropoietic Anemia Type I by Treatment With LOSEC Unknown status NCT01795794 Phase 4 omeprazole
2 Phase IV Study of the Use of Sequential DFP-DFO Versus DFP in Thalassemia Major Patients Completed NCT00733811 Phase 4 Deferiprone (DFP) and Deferoxamine (DFO);Deferiprone (DFP)
3 Pilot Pharmacokinetic Study In Patients With Inadequate Response To Deferasirox (Exjade) Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
4 Efficacy of Intravenous 'L-ornithine L-aspartate' in Reversal of Overt Acute Hepatic Encephalopathy in Patients With Liver Cirrhosis: a Prospective, Randomized, Double-blind, Placebo Controlled Trial Completed NCT01722578 Phase 4 L-ornithine L-aspartate;Placebo
5 Mechanism of Sorafenib Resistance in Patients With Advanced Hepatocellular Carcinoma Recruiting NCT02733809 Phase 4 Sorafenib
6 Erythrocytapheresis Versus Phlebotomy as Maintenance Therapy in Patients With Hereditary Hemochromatosis; a Randomised, Single Blinded Sequential, Cross-over Trial Unknown status NCT01398644 Phase 3
7 Therapeutic Erythrocytapheresis as Treatment for Hemochromatosis Patients. Completed NCT00202436 Phase 3
8 Clinical Management of Hereditary Hemochromatosis: Phlebotomy vs. Erythrocytoapheresis Completed NCT00440986 Phase 2, Phase 3
9 Screening of Hepatocellular Carcinoma in Patients With Compensated Cirrhosis. A Randomized Trial Comparing Two Periodicities of Ultrasonographic Surveillance: 3-month vs 6-month Completed NCT00190385 Phase 3
10 Randomized Open-label Phase III Study With Deferiprone and/or Desferrioxamine in Iron Overloaded Patients Completed NCT00350662 Phase 3 Deferiprone (L1);Desferrioxamine
11 RECURRENCE RATE OF HEPATOCELLULAR CARCINOMA AFTER TREATMENT OF CHRONIC HEPATITIS C PATIENTS WITH DIRECT ACTING ANTIVIRALS: RANDOMIZED CONTROLLED PHASE 3 TRIAL (CAUTIOUS TRIAL) Recruiting NCT03551444 Phase 3 Administration of DAA-based treatment
12 Comparison of Bovine Colostrum Versus Placebo in Treatment of Severe Alcoholic Hepatitis: A Randomized Double Blind Controlled Trial Recruiting NCT02473341 Phase 3 Bovine Colostrum;Placebo
13 Stroke With Transfusions Changing to Hydroxyurea Terminated NCT00122980 Phase 3 Hydroxyurea
14 Influence of Iron Depletion by Phlebotomy on the Risk of Hepatocellular Carcinoma Occurrence in Patients With Compensated Alcoholic Cirrhosis. Prospective, Multicentre, Randomized Trial Terminated NCT01342705 Phase 3
15 A Phase I/II Open Label, Dose Escalation Trial and a Six Month Extension to Explore the Safety and Efficacy of ICL670 in Patients With Iron Overload Resulting From Hereditary Hemochromatosis. Completed NCT00395629 Phase 1, Phase 2 Deferasirox (ICL670)
16 Prospective, Comparative (5 Groups), Non-randomized, Multicenter, Physiopathological Study, Evaluating Pharmacokinetic Characteristics of Serum Hepcidin Level in Response to Iron Oral Intake in Order to Evaluate Their Interest to Discriminate Patients With Dysmetabolic Hepatosiderosis or Ferroportin Disease. Completed NCT01949467 Phase 2 iron fumarate
17 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
18 Evaluation of Subcutaneous Desferrioxamine as Treatment for Transfusional Hemochromatosis Completed NCT00000595 Phase 2 deferoxamine
19 A Phase II Trial of the Safety and Efficacy of Iron Reduction by Phlebotomy in Recipients of Hematopoietic Stem Cell Transplants Completed NCT00689182 Phase 2
20 Efficacy of Combination Therapy of Glucocorticoids, and Bovine Colostrum in Treatment of Severe Alcoholic Hepatitis: A Pilot Study. Completed NCT02265328 Phase 2
21 A Phase II, Multicenter, Open-label, Randomized Two-year Study to Evaluate the Efficacy and Safety of Deferasirox Film-coated Tablet Versus Phlebotomy in Patients With Hereditary Hemochromatosis. Recruiting NCT03203850 Phase 2 Deferasirox FCT
22 Phase II Open Labeled Trial of Disulfiram With Copper in Metastatic Breast Cancer Recruiting NCT03323346 Phase 2 Disulfiram
23 Open Label Trial of Therapeutic Vaccine in Patients With Cholangiocarcinoma Recruiting NCT03042182 Phase 1, Phase 2
24 Phase 2 Study of Deferasirox-calcium-vitamin D3 to Treat Postmenopausal Osteoporosis (PMOP) Recruiting NCT02854722 Phase 2 Deferasirox and calcium-vitamin D3;Calcium-vitamin D3
25 A Phase 2, Multi-Center, Randomized, Placebo Controlled, Single-Blind Study With LJPC-401 for the Treatment of Iron Overload in Adult Patients With Hereditary Hemochromatosis Active, not recruiting NCT03395704 Phase 2 LJPC-401;Placebo
26 Early High-dose Vitamin C in Post-cardiac Arrest Syndrome Not yet recruiting NCT03509662 Phase 2 Vitamin C;Thiamine;Placebos
27 Treatment of Refractory Hemochromatosis Rheumatism by Anakinra: a Preliminary Phase II Study Terminated NCT02263638 Phase 2 Anakinra
28 Deferasirox Versus Venesection in Patients With Hemochromatosis and for Treatment of Transfusional Siderosis in Myelodysplastic Syndrome: Diagnostics and New Biomarkers. Terminated NCT01892644 Phase 2 Deferasirox;Deferasirox
29 A Trial of Oral Nifedipine for the Treatment of Iron Overload Completed NCT00712738 Phase 1 Nifedipine
30 Implications for Quality of Life and Quality of Care in Patients With Hereditary Haemochromatosis Unknown status NCT01991925
31 Proton Pump Inhibitors in the Prevention of Iron Reaccumulation in Patient With Hereditary Hemochromatosis Unknown status NCT01524757 Pantoprazole
32 Therapeutic Effect of Erythrocyte Apheresis as Compared to Full Blood Phlebotomy in Patients With Hereditary Hemochromatosis Unknown status NCT00509652
33 The Metabolic Profile and Adipocytokine Alterations of Patients With HCV Infection Before and After HCV Therapy" Unknown status NCT01360268
34 Assessment of Iron Deposition in Major Organs of Hemodialysis Patients, Using T2*MRI and Novel Biomarkers of Free Iron Species Unknown status NCT01169961
35 Serial HBV DNA Levels During Pregnancy in Patients With Chronic Hepatitis B: a Prospective Observational Follow-up Study Unknown status NCT01610115
36 Prevalence and Clinical Characteristics of the Patients With Liver Cirrhosis and Different Glucose Metabolism Disorders - A Prospective Study. Unknown status NCT01396954
37 Utility of Transient Elastography (Fibroscan) in Estimating Hepatic Iron Concentration in Comparison to MRI in Patients With Transfusion Dependent Hemoglobinopathies Unknown status NCT02067130
38 Bone Status on Patients With Genetic Hemochromatosis : a 3 Years Descriptive and Evolutionary Study. Completed NCT01556360
39 Evaluation of a New MR Pulse Sequence to Quantify Liver Iron Concentration Completed NCT00587535
40 Statistical Basis for Hemochromatosis Screening Completed NCT00005559
41 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
42 Haemochromatosis and Periodontitis Completed NCT04006249
43 HEPFER-Evaluation of a New Phenotypic Biological Marker in Genetic Type 1 Hemochromatosis Completed NCT01784939
44 Research Network for Neonatal Diseases Induced by Tissular Fetomaternal Alloimmunization Completed NCT00199628
45 “Factors Associated With Porphyria Cutanea Tarda in Patients Infected With Hepatitis C Virus” Completed NCT00213772
46 Study of the Association Between Transferrin Saturation and Asthenia in Hemochromatosis Completed NCT03356548
47 Hemochromatosis and Iron Overload Screening Study (HEIRS) Completed NCT00005541
48 Clinical Course of Patients With Transfusional Hemochromatosis on Deferoxamine Completed NCT00001203
49 Hemochromatosis--Genetic Prevalence and Penetrance Completed NCT00006312
50 Iron Overload in African Americans Completed NCT00001455

Search NIH Clinical Center for Juvenile Hereditary Hemochromatosis

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


deferoxamine mesylate

Genetic Tests for Juvenile Hereditary Hemochromatosis

Anatomical Context for Juvenile Hereditary Hemochromatosis

MalaCards organs/tissues related to Juvenile Hereditary Hemochromatosis:

41
Liver, Bone, Kidney, Heart, Testes, Breast

Publications for Juvenile Hereditary Hemochromatosis

Articles related to Juvenile Hereditary Hemochromatosis:

(show top 50) (show all 67)
# Title Authors PMID Year
1
Juvenile hemochromatosis associated with pathogenic mutations of adult hemochromatosis genes. 38 4
15685557 2005
2
Severe hemochromatosis in a Portuguese family associated with a new mutation in the 5'-UTR of the HAMP gene. 38 4
15198949 2004
3
Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome. 4
19796184 2009
4
Treatment of neonatal hemochromatosis with exchange transfusion and intravenous immunoglobulin. 4
19560784 2009
5
Lack of the bone morphogenetic protein BMP6 induces massive iron overload. 4
19252488 2009
6
BMP6 is a key endogenous regulator of hepcidin expression and iron metabolism. 4
19252486 2009
7
Role of matriptase-2 (TMPRSS6) in iron metabolism. 4
19907145 2009
8
Outcome of pregnancies at risk for neonatal hemochromatosis is improved by treatment with high-dose intravenous immunoglobulin. 4
18474533 2008
9
Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA). 4
18408718 2008
10
Defective targeting of hemojuvelin to plasma membrane is a common pathogenetic mechanism in juvenile hemochromatosis. 4
17264300 2007
11
Evidence that inhibition of hemojuvelin shedding in response to iron is mediated through neogenin. 4
17331953 2007
12
Glucose metabolism, insulin secretion and insulin sensitivity in juvenile hemochromatosis. A case report and review of the literature. 4
17427110 2007
13
Reversal of cardiac complications by deferiprone and deferoxamine combination therapy in a patient affected by a severe type of juvenile hemochromatosis (JH). 4
16960153 2007
14
Molecular mechanism of hepcidin deficiency in a patient with juvenile hemochromatosis. 4
17229647 2007
15
Reversibility of hepatic fibrosis in treated genetic hemochromatosis: a study of 36 cases. 4
16871557 2006
16
Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression. 4
16604073 2006
17
Osteoporosis in HFE2 juvenile hemochromatosis. A case report and review of the literature. 4
15997423 2006
18
Iron overload due to mutations in ferroportin. 4
16434376 2006
19
Reversibility of hypogonadotropic hypogonadism in a patient with the juvenile form of hemochromatosis. 4
16359978 2005
20
A role of SMAD4 in iron metabolism through the positive regulation of hepcidin expression. 4
16330325 2005
21
Interaction of hemojuvelin with neogenin results in iron accumulation in human embryonic kidney 293 cells. 4
16103117 2005
22
Competitive regulation of hepcidin mRNA by soluble and cell-associated hemojuvelin. 4
15998830 2005
23
Three patients with middle-age-onset hemochromatosis caused by novel mutations in the hemojuvelin gene. 4
16099526 2005
24
A mouse model of juvenile hemochromatosis. 4
16075059 2005
25
Hemojuvelin is essential for dietary iron sensing, and its mutation leads to severe iron overload. 4
16075058 2005
26
Neonatal hemochromatosis: is it an alloimmune disease? 4
15861012 2005
27
HJV gene mutations in European patients with juvenile hemochromatosis. 4
15811010 2005
28
Cardiac transplantation in patients with iron overload cardiomyopathy. 4
15797753 2005
29
The new SQUID biosusceptometer at Oakland: first year of experience. 4
16012600 2004
30
Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis. 4
15461631 2004
31
Juvenile hemochromatosis HJV-related revealed by cardiogenic shock. 4
15315789 2004
32
Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent. 4
15147384 2004
33
Hereditary hemochromatosis--a new look at an old disease. 4
15175440 2004
34
Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. 4
14982873 2004
35
Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin. 4
14982867 2004
36
A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis. 4
15099344 2004
37
HAMP gene mutation c.208T>C (p.C70R) identified in an Italian patient with severe hereditary hemochromatosis. 4
15024747 2004
38
Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R). 4
14630809 2004
39
Non-invasive assessment of hepatic iron stores by MRI. 4
15070565 2004
40
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. 4
14647275 2004
41
Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene. 4
14636642 2003
42
Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans. 4
14636643 2003
43
Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. 4
12915468 2003
44
Serum ferritin level predicts advanced hepatic fibrosis among U.S. patients with phenotypic hemochromatosis. 4
12693884 2003
45
Arthropathy in juvenile hemochromatosis. 4
12528123 2003
46
Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. 4
12469120 2003
47
Seeking candidate mutations that affect iron homeostasis. 4
12547238 2002
48
Juvenile hemochromatosis. 4
12382199 2002
49
Natural history of juvenile haemochromatosis. 4
12060140 2002
50
Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. 4
11518736 2001

Variations for Juvenile Hereditary Hemochromatosis

Expression for Juvenile Hereditary Hemochromatosis

Search GEO for disease gene expression data for Juvenile Hereditary Hemochromatosis.

Pathways for Juvenile Hereditary Hemochromatosis

Pathways related to Juvenile Hereditary Hemochromatosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.47 HJV HAMP

GO Terms for Juvenile Hereditary Hemochromatosis

Biological processes related to Juvenile Hereditary Hemochromatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 8.96 HJV HAMP
2 cellular iron ion homeostasis GO:0006879 8.62 HJV HAMP

Sources for Juvenile Hereditary Hemochromatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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