MCID: JVN024
MIFTS: 44

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 25
Hemochromatosis 25 74
Hemochromatosis, Type 1 74
Type 2 25

Classifications:



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Summaries for Juvenile Hereditary Hemochromatosis

CDC : 3 << Back to Vaccines Home

MalaCards based summary : Juvenile Hereditary Hemochromatosis, also known as hemochromatosis, is related to hemochromatosis, type 1 and hemochromatosis, type 4, and has symptoms including nausea and vomiting, constipation and abdominal pain. The drugs Omeprazole and Iron have been mentioned in the context of this disorder. Affiliated tissues include heart, testes and bone.

GeneReviews: NBK1170

Related Diseases for Juvenile Hereditary Hemochromatosis

Diseases in the Juvenile 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 Juvenile Hereditary Hemochromatosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 2142)
# Related Disease Score Top Affiliating Genes
1 hemochromatosis, type 1 13.0
2 hemochromatosis, type 4 12.8
3 hemochromatosis, type 3 12.7
4 hemochromatosis, neonatal 12.7
5 hemochromatosis, type 2a 12.6
6 hemochromatosis, type 5 12.6
7 hemochromatosis, type 2b 12.5
8 macular telangiectasia type 2 12.3
9 episodic ataxia, type 2 12.3
10 von willebrand disease, type 2 12.3
11 generalized epilepsy with febrile seizures plus, type 2 12.2
12 tfr2-related hereditary hemochromatosis 12.2
13 kenny-caffey syndrome, type 2 12.2
14 dentinogenesis imperfecta type 2 12.2
15 immunodeficiency with hyper-igm, type 2 12.1
16 human t-cell leukemia virus type 2 12.1
17 ehlers-danlos syndrome, spondylodysplastic type, 2 12.1
18 griscelli syndrome, type 2 12.1
19 maturity-onset diabetes of the young, type 2 12.1
20 lipodystrophy, congenital generalized, type 2 12.1
21 lipodystrophy, familial partial, type 2 12.1
22 mitochondrial complex iii deficiency, nuclear type 2 12.1
23 ehlers-danlos syndrome, musculocontractural type, 2 12.1
24 rhizomelic chondrodysplasia punctata, type 2 12.1
25 nephrotic syndrome, type 2 12.1
26 mitochondrial complex v deficiency, nuclear type 2 12.1
27 congenital heart defects, multiple types, 2 12.1
28 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 12.1
29 ehlers-danlos syndrome, classic type, 2 12.0
30 camurati-engelmann disease, type 2 12.0
31 ehlers-danlos syndrome, periodontal type, 2 12.0
32 ehlers-danlos syndrome, arthrochalasia type, 2 12.0
33 telangiectasia, hereditary hemorrhagic, type 2 12.0
34 ehlers-danlos syndrome, kyphoscoliotic type, 2 12.0
35 simpson-golabi-behmel syndrome, type 2 12.0
36 spondyloepimetaphyseal dysplasia with joint laxity, type 2 12.0
37 hypokalemic periodic paralysis, type 2 12.0
38 congenital pulmonary airway malformation type 2 12.0
39 autosomal dominant charcot-marie-tooth disease type 2 with giant axons 12.0
40 usher syndrome type 2 12.0
41 iron overload in africa 12.0
42 bartter syndrome, type 2, antenatal 11.9
43 autoimmune pancreatitis type 2 11.9
44 acquired angioedema type 2 11.9
45 axenfeld-rieger syndrome, type 2 11.9
46 meckel syndrome, type 2 11.9
47 colorectal cancer, hereditary nonpolyposis, type 2 11.9
48 van buchem disease, type 2 11.9
49 spherocytosis, type 2 11.9
50 carney complex, type 2 11.8

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 55)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Omeprazole Approved, Investigational, Vet_approved Phase 4 73590-58-6 4594
2
Iron Approved, Experimental Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 7439-89-6, 15438-31-0 23925 27284
3
Deferasirox Approved, Investigational Phase 4,Phase 1,Phase 2 201530-41-8 5493381
4
Deferoxamine Approved, Investigational Phase 4,Phase 3,Phase 2 70-51-9 2973
5
Deferiprone Approved Phase 4,Phase 3,Phase 2,Phase 1 30652-11-0 2972
6 Anti-Ulcer Agents Phase 4,Not Applicable
7 Antacids Phase 4,Not Applicable
8 Gastrointestinal Agents Phase 4,Not Applicable
9 Proton Pump Inhibitors Phase 4,Not Applicable
10 Siderophores Phase 4,Phase 3,Phase 2
11 Liver Extracts Phase 4,Not Applicable
12 Chelating Agents Phase 4,Phase 3,Phase 2,Phase 1
13 Iron Chelating Agents Phase 4,Phase 3,Phase 2,Phase 1
14
Ethanol Approved Phase 3 64-17-5 702
15
Hydroxyurea Approved Phase 3 127-07-1 3657
16 Pharmaceutical Solutions Phase 2, Phase 3
17 Nucleic Acid Synthesis Inhibitors Phase 3
18
Calcium Approved, Nutraceutical Phase 2,Phase 1 7440-70-2 271
19
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
20
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 5280795 6221
21
Ergocalciferol Approved, Nutraceutical Phase 2 50-14-6 5280793
22 Trace Elements Phase 2,Phase 1,Not Applicable
23 Hepcidins Phase 2
24 Anti-Infective Agents Phase 2
25 Nutrients Phase 2,Phase 1,Not Applicable
26 Micronutrients Phase 2,Phase 1,Not Applicable
27 Calcium, Dietary Phase 2,Phase 1
28 Hormones Phase 2,Phase 1
29 Immunologic Factors Phase 1, Phase 2
30 Vitamins Phase 2
31 Bone Density Conservation Agents Phase 2
32 Calciferol Phase 2
33 Ergocalciferols Phase 2
34 Vitamin D2 Phase 2
35 Vaccines Phase 1, Phase 2
36 Antirheumatic Agents Phase 2
37 Interleukin 1 Receptor Antagonist Protein Phase 2
38
Nifedipine Approved Phase 1 21829-25-4 4485
39 calcium channel blockers Phase 1
40 Vasodilator Agents Phase 1
41 Tocolytic Agents Phase 1
42
Pantoprazole Approved Not Applicable 102625-70-7 4679
43
Tacrolimus Approved, Investigational 104987-11-3 445643 439492 6473866
44
Zinc Approved, Investigational 7440-66-6 32051
45 Kava Approved, Investigational, Nutraceutical 9000-38-8
46 Trichostatin A
47 Hematinics
48 Immunosuppressive Agents
49 Calcineurin Inhibitors
50 Iron Supplement Not Applicable

Interventional clinical trials:

(show top 50) (show all 61)
# 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 Pilot Study for Patients With Poor Response to Deferasirox Completed NCT00749515 Phase 4 Deferoxamine;Deferasirox
3 Efficacy Study of the Use of Sequential DFP-DFO Versus DFP Completed NCT00733811 Phase 4 Deferiprone (DFP) and Deferoxamine (DFO);Deferiprone (DFP)
4 Erythrocytapheresis Versus Phlebotomy as Maintenance Therapy in Hereditary Hemochromatosis (HH) Patients Unknown status NCT01398644 Phase 3
5 Haemochromatosis:Phlebotomy Versus Erythrocytapheresis Therapy Completed NCT00202436 Phase 3
6 Clinical Management of Hereditary Hemochromatosis: Phlebotomy vs. Erythrocytoapheresis Completed NCT00440986 Phase 2, Phase 3
7 Study With Deferiprone and/or Desferrioxamine in Iron Overloaded Patients Completed NCT00350662 Phase 3 Deferiprone (L1);Desferrioxamine
8 Efficacy and Safety of the Iron Chelator Deferiprone in Parkinson's Disease Completed NCT00943748 Phase 2, Phase 3 deferiprone;placebo
9 Screening of Hepatocellular Carcinoma in Patients With Compensated Cirrhosis Completed NCT00190385 Phase 3
10 Stroke With Transfusions Changing to Hydroxyurea Terminated NCT00122980 Phase 3 Hydroxyurea
11 Safety and Efficacy of Deferasirox (ICL670) in Patients With Iron Overload Resulting From Hereditary Hemochromatosis Completed NCT00395629 Phase 1, Phase 2 Deferasirox (ICL670)
12 Study Using Deferiprone Alone or in Combination With Desferrioxamine in Iron Overloaded Transfusion-dependent Patients Completed NCT00349453 Phase 2 Deferiprone (L1);Deferiprone (L1);Desferrioxamine
13 Evaluation of Subcutaneous Desferrioxamine as Treatment for Transfusional Hemochromatosis Completed NCT00000595 Phase 2 deferoxamine
14 Analysis of the Modulation of Serum Hepcidin Level in Response to Iron Oral Intake: Potential Interest for the Differential Diagnosis Between Ferroportin Disease and Dysmetabolic Hepatosiderosis. Completed NCT01949467 Phase 2 iron fumarate
15 A 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 A Study of LJPC-401 for the Treatment of Iron Overload in Adult Patients With Hereditary Hemochromatosis Recruiting NCT03395704 Phase 2 LJPC-401;Placebo
17 The Deferasirox-calcium-vitamin D3 Therapy for Postmenopausal Osteoporosis (PMOP) Recruiting NCT02854722 Phase 2 Deferasirox and calcium-vitamin D3;Calcium-vitamin D3
18 Trial of Therapeutic Vaccine in Patients With Cholangiocarcinoma Recruiting NCT03042182 Phase 1, Phase 2
19 Treatment of Refractory Hemochromatosis Rheumatism by Anakinra: a Preliminary Phase II Study Terminated NCT02263638 Phase 2 Anakinra
20 Treatment of Iron Overload With Deferasirox (Exjade) in Hereditary Hemochromatosis and Myelodysplastic Syndrome Terminated NCT01892644 Phase 2 Deferasirox;Deferasirox
21 Oral Nifedipine to Treat Iron Overload Completed NCT00712738 Phase 1 Nifedipine
22 Implications for Quality of Life and Quality of Care in Patients With Hereditary Haemochromatosis Unknown status NCT01991925
23 Erythrocyte Apheresis Versus Phlebotomy in Hemochromatosis Unknown status NCT00509652 Not Applicable
24 Proton Pump Inhibitors in the Prevention of Iron Reaccumulation in Patient With Hereditary Hemochromatosis Unknown status NCT01524757 Not Applicable Pantoprazole
25 Estimation of Myocardial Iron Overload by 3 Tesla MRI in HFE Hereditary Haemochromatosis Completed NCT02099214 Not Applicable
26 HEPFER-Evaluation of a New Phenotypic Biological Marker in Genetic Type 1 Hemochromatosis Completed NCT01784939
27 Bone Status on Patients With Genetic Hemochromatosis: a 3 Years Descriptive and Evolutionary Study Completed NCT01556360
28 Respiratory Variations For Assessing Blood Withdrawal Completed NCT03066414
29 Deferoxamine for the Treatment of Hemochromatosis Completed NCT00001203
30 Evaluation of a New MR Pulse Sequence to Quantify Liver Iron Concentration Completed NCT00587535
31 Hemochromatosis--Genetic Prevalence and Penetrance Completed NCT00006312
32 Statistical Basis for Hemochromatosis Screening Completed NCT00005559
33 Study of the Cellular Diffusion of Tacrolimus Across the Membrane of Mononuclear Cells Completed NCT03654794
34 Hemochromatosis and Iron Overload Screening Study (HEIRS) Completed NCT00005541
35 Mi-iron - Moderately Increased Iron - is Reducing Iron Overload Necessary? Completed NCT01631708 Not Applicable
36 Effects of Polyphenols on Iron Absorption in Iron Overload Disorders. Completed NCT03453918 Not Applicable
37 Iron Overload in African Americans Completed NCT00001455
38 Impact of Host Iron Status and Iron Supplement Use on Erythrocytic Stage of Plasmodium Falciparum Completed NCT01027663 Not Applicable
39 Research Network for Neonatal Diseases Induced by Tissular Fetomaternal Alloimmunization Completed NCT00199628
40 Study of the Pathogenesis of Porphyria Cutanea Tarda Completed NCT00005103
41 High-Tc Susceptometer to Monitor Transfusional Iron Overload Completed NCT01241357
42 Risk Factors of Porphyria Cutanea Tarda (PCT) Completed NCT00213772
43 Massive Iron Deposit Assessment Completed NCT01572922 Not Applicable
44 Ischemia Modified Albumin (IMA) Expression in the Male and Female Population Completed NCT02894671
45 Iron Overload in Stem Cell Transplant Recipients Completed NCT00806715
46 Routine vs Selective Cardiac Magnetic Resonance in Non-Ischemic Heart Failure Completed NCT01281384 Not Applicable
47 Treatment of Hemochromatosis Recruiting NCT00007150
48 Impact of Bloodletting on Iron Metabolism in Type 1 Hemochromatosis Recruiting NCT01810965 Not Applicable
49 Transferrin Saturation and Asthenia in Hemochromatosis Recruiting NCT03356548
50 World Mosquito Program Noumea - Human Sample Component Recruiting NCT03552094

Search NIH Clinical Center for Juvenile Hereditary Hemochromatosis

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Genetic Tests for Juvenile Hereditary Hemochromatosis

Anatomical Context for Juvenile Hereditary Hemochromatosis

MalaCards organs/tissues related to Juvenile Hereditary Hemochromatosis:

42
Heart, Testes, Bone, Monocytes, Pituitary, Skin, Bone Marrow

Publications for Juvenile Hereditary Hemochromatosis

Articles related to Juvenile Hereditary Hemochromatosis:

(show top 50) (show all 1457)
# Title Authors Year
1
New thiazolidinones reduce iron overload in mouse models of hereditary hemochromatosis and β-thalassemia. ( 30792208 )
2019
2
Was the Last Ice Age dusty climate instrumental in spreading of the three "Celtic" diseases (hemochromatosis, cystic fibrosis and palmar fibromatosis)? ( 30593397 )
2019
3
A case of Niemann-Pick disease type C with neonatal liver failure initially diagnosed as neonatal hemochromatosis. ( 30737051 )
2019
4
Variable expressivity of HJV related hemochromatosis: "Juvenile" hemochromatosis? ( 30389309 )
2019
5
Juvenile hemochromatosis with multi-organ involvement diagnosed at autopsy. ( 30583831 )
2019
6
Hereditary Hemochromatosis Associations with Frailty, Sarcopenia and Chronic Pain: Evidence from 200,975 Older UK Biobank Participants. ( 30657865 )
2019
7
Oral Gavage of Ginger Nanoparticle-Derived Lipid Vectors Carrying Dmt1 siRNA Blunts Iron Loading in Murine Hereditary Hemochromatosis. ( 30713087 )
2019
8
μXRF and LA-ICP-TQMS for quantitative bioimaging of iron in organ samples of a hemochromatosis model. ( 30732878 )
2019
9
Cardiac iron overload following liver transplantation in patients without hereditary hemochromatosis or severe hepatic iron deposition. ( 30763826 )
2019
10
Effect of procyanidin on dietary iron absorption in hereditary hemochromatosis and in dysmetabolic iron overload syndrome: A crossover double-blind randomized controlled trial. ( 30792142 )
2019
11
Hemochromatosis: Hereditary hemochromatosis and HFE gene. ( 30798813 )
2019
12
Comprehensive analysis of HFE gene in hereditary hemochromatosis and in diseases associated with acquired iron overload. ( 30820268 )
2019
13
Influence of hereditary hemochromatosis on left ventricular wall thickness: does iron overload exacerbate cardiac hypertrophy? ( 30835340 )
2019
14
Coexistent Alpha-1 Antitrypsin Deficiency and Hereditary Hemochromatosis. ( 29991100 )
2018
15
Severe hemochromatosis arthropathy in the absence of iron overload. ( 30562413 )
2018
16
Hepatocellular Carcinoma Arising in a Non-cirrhotic Liver with Secondary Hemochromatosis. ( 30449774 )
2018
17
Higher age at diagnosis of hemochromatosis is the strongest predictor of the occurrence of hepatocellular carcinoma in the Swiss hemochromatosis cohort: A prospective longitudinal observational study. ( 30335010 )
2018
18
Hemochromatosis associated with cholelithiasis as a cause of hydrops fetalis and stillbirth: Prenatal diagnosis. ( 30378124 )
2018
19
HFE hemochromatosis screening in patients with severe hip osteoarthritis: A prospective cross-sectional study. ( 30427934 )
2018
20
Hepato-cerebral hereditary hemochromatosis in a patient with restless legs syndrome. ( 30591276 )
2018
21
Progressive splenomegaly and mild thrombocytosis in beta-thalassaemia trait and coexisting hereditary hemochromatosis: possible confounders for a subsequent hematological diagnosis. ( 30218421 )
2018
22
A Rare Case Of a 2 year old Boy With Alagille Syndrome & Type 3 Hereditary Hemochromatosis With TFR2 Mutation. ( 29985876 )
2018
23
Insulin Resistance and Metabolic Syndrome: Clinical and Laboratory Associations in African Americans Without Diabetes in the Hemochromatosis and Iron Overload Screening Study. ( 29851359 )
2018
24
Magnetic Resonance Imaging Findings in Neonatal Hemochromatosis. ( 29287003 )
2018
25
The Japanese experience and pharmacokinetics of antenatal maternal high-dose immunoglobulin treatment as a prophylaxis for neonatal hemochromatosis in siblings. ( 29890876 )
2018
26
Broadening the spectrum of neonatal hemochromatosis. ( 30058407 )
2018
27
Biochemical profile in an infant with neonatal hemochromatosis shows evidence of impairment of mitochondrial long-chain fatty acid oxidation. ( 30149691 )
2018
28
Heterogeneous Presentation of Neonatal Hemochromatosis in Dichorionic Twins. ( 30464860 )
2018
29
The mechanisms of systemic iron homeostasis and etiology, diagnosis, and treatment of hereditary hemochromatosis. ( 29134618 )
2018
30
Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis. ( 29154924 )
2018
31
Quality of life scores differs between genotypic groups of patients with suspected hereditary hemochromatosis. ( 29301508 )
2018
32
Reversal of end-stage heart failure in juvenile hemochromatosis with iron chelation therapy: a case report. ( 29373985 )
2018
33
Identification of Genes for Hereditary Hemochromatosis. ( 29423808 )
2018
34
Do pregnancies reduce iron overload in HFE hemochromatosis women? results from an observational prospective study. ( 29454332 )
2018
35
Gastroscopy findings in a patient with signet ring cell carcinoma and late‑onset hereditary hemochromatosis. ( 29511150 )
2018
36
Primary Hemochromatosis Presenting as Type 2 Diabetes Mellitus: A Case Report with Review of Literature. ( 29552540 )
2018
37
Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype. ( 29589198 )
2018
38
Iron storage disease (hemochromatosis) and hepcidin response to iron load in two species of pteropodid fruit bats relative to the common vampire bat. ( 29594459 )
2018
39
About genetic diagnosis of hereditary hemochromatosis. ( 29623879 )
2018
40
Phenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease. ( 29743178 )
2018
41
Should we use proton pump inhibitors as an add-on treatment in hereditary hemochromatosis? ( 29749343 )
2018
42
Hemochromatosis: Evaluation of the dietary iron model and regulation of hepcidin. ( 29752985 )
2018
43
A severe hemojuvelin mutation leading to late onset of HFE2-hemochromatosis. ( 29764732 )
2018
44
Management of cardiac hemochromatosis. ( 29765443 )
2018
45
Cardiac Hemochromatosis Treated With Prolonged Extracorporeal Membrane Oxygenation Support and Chelation Therapy. ( 29878536 )
2018
46
Small Molecule Inhibitors of NFkB Reverse Iron Overload and Hepcidin Deregulation in a Zebrafish Model for Hereditary Hemochromatosis Type 3. ( 29897731 )
2018
47
Hemochromatosis: pathophysiology, evaluation, and management of hepatic iron overload with a focus on MRI. ( 29966105 )
2018
48
Hemochromatosis (HFE) Gene Variants Are Associated with Increased Mitochondrial DNA Levels During HIV-1 Infection and Antiretroviral Therapy. ( 29968489 )
2018
49
The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism. ( 30002125 )
2018
50
Educational Case: Iron Overload and Hemochromatosis. ( 30057941 )
2018

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

GO Terms for Juvenile Hereditary Hemochromatosis

Sources for Juvenile Hereditary Hemochromatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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