MCID: JVN024
MIFTS: 42

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 24 73
Hemochromatosis, Type 1 73
Type 2 24

Classifications:



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Summaries for Juvenile Hereditary Hemochromatosis

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MalaCards based summary : Juvenile Hereditary Hemochromatosis, also known as hemochromatosis, is related to hemochromatosis, type 4 and hemochromatosis, type 3, and has symptoms including nausea and vomiting, constipation and abdominal pain. Affiliated tissues include liver, bone and heart.

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 2052)
# Related Disease Score Top Affiliating Genes
1 hemochromatosis, type 4 12.8
2 hemochromatosis, type 3 12.7
3 hemochromatosis, neonatal 12.7
4 hemochromatosis, type 2a 12.6
5 hemochromatosis, type 5 12.6
6 hemochromatosis, type 2b 12.5
7 macular telangiectasia type 2 12.3
8 episodic ataxia, type 2 12.3
9 von willebrand disease, type 2 12.2
10 griscelli syndrome, type 2 12.2
11 generalized epilepsy with febrile seizures plus, type 2 12.2
12 lipodystrophy, familial partial, type 2 12.2
13 tfr2-related hereditary hemochromatosis 12.2
14 kenny-caffey syndrome, type 2 12.2
15 dentinogenesis imperfecta type 2 12.2
16 spinocerebellar ataxia with axonal neuropathy type 2 12.1
17 hfe-associated hereditary hemochromatosis 12.1
18 immunodeficiency with hyper-igm, type 2 12.1
19 human t-cell leukemia virus type 2 12.1
20 ehlers-danlos syndrome, spondylodysplastic type, 2 12.1
21 maturity-onset diabetes of the young, type 2 12.1
22 lipodystrophy, congenital generalized, type 2 12.1
23 mitochondrial complex iii deficiency, nuclear type 2 12.1
24 ehlers-danlos syndrome, musculocontractural type, 2 12.1
25 rhizomelic chondrodysplasia punctata, type 2 12.1
26 congenital heart defects, multiple types, 2 12.0
27 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 12.0
28 ehlers-danlos syndrome, classic type, 2 12.0
29 nephrotic syndrome, 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 bartter syndrome, type 2, antenatal 11.9
42 iron overload in africa 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 mitochondrial complex v deficiency, nuclear 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

Search Clinical Trials , NIH Clinical Center for Juvenile Hereditary Hemochromatosis

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Juvenile Hereditary Hemochromatosis

Anatomical Context for Juvenile Hereditary Hemochromatosis

MalaCards organs/tissues related to Juvenile Hereditary Hemochromatosis:

41
Liver, Bone, Heart, Skin, Kidney, Testes, T Cells

Publications for Juvenile Hereditary Hemochromatosis

Articles related to Juvenile Hereditary Hemochromatosis:

(show top 50) (show all 229)
# Title Authors Year
1
Variable expressivity of HJV related hemochromatosis: "Juvenile" hemochromatosis? ( 30389309 )
2019
2
Coexistent Alpha-1 Antitrypsin Deficiency and Hereditary Hemochromatosis. ( 29991100 )
2018
3
Hemochromatosis associated with cholelithiasis as a cause of hydrops fetalis and stillbirth: Prenatal diagnosis. ( 30378124 )
2018
4
Hepatocellular Carcinoma Arising in a Non-cirrhotic Liver with Secondary Hemochromatosis. ( 30449774 )
2018
5
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
6
HFE hemochromatosis screening in patients with severe hip osteoarthritis: A prospective cross-sectional study. ( 30427934 )
2018
7
Progressive splenomegaly and mild thrombocytosis in beta-thalassaemia trait and coexisting hereditary hemochromatosis: possible confounders for a subsequent hematological diagnosis. ( 30218421 )
2018
8
A Rare Case Of a 2 year old Boy With Alagille Syndrome & Type 3 Hereditary Hemochromatosis With TFR2 Mutation. ( 29985876 )
2018
9
Magnetic Resonance Imaging Findings in Neonatal Hemochromatosis. ( 29287003 )
2018
10
The Japanese experience and pharmacokinetics of antenatal maternal high-dose immunoglobulin treatment as a prophylaxis for neonatal hemochromatosis in siblings. ( 29890876 )
2018
11
Broadening the spectrum of neonatal hemochromatosis. ( 30058407 )
2018
12
Biochemical profile in an infant with neonatal hemochromatosis shows evidence of impairment of mitochondrial long-chain fatty acid oxidation. ( 30149691 )
2018
13
Heterogeneous Presentation of Neonatal Hemochromatosis in Dichorionic Twins. ( 30464860 )
2018
14
Cardiac Hemochromatosis Treated With Prolonged Extracorporeal Membrane Oxygenation Support and Chelation Therapy. ( 29878536 )
2018
15
Small Molecule Inhibitors of NFkB Reverse Iron Overload and Hepcidin Deregulation in a Zebrafish Model for Hereditary Hemochromatosis Type 3. ( 29897731 )
2018
16
Hemochromatosis: pathophysiology, evaluation, and management of hepatic iron overload with a focus on MRI. ( 29966105 )
2018
17
Hemochromatosis (HFE) Gene Variants Are Associated with Increased Mitochondrial DNA Levels During HIV-1 Infection and Antiretroviral Therapy. ( 29968489 )
2018
18
The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism. ( 30002125 )
2018
19
Educational Case: Iron Overload and Hemochromatosis. ( 30057941 )
2018
20
The effect of therapeutic phlebotomy for hemochromatosis on non-suicidal self-injury: A case report. ( 30058462 )
2018
21
From Death to Health in 30 Days: A Hemochromatosis Case Report. ( 30063517 )
2018
22
Cirrhosis in Hemochromatosis: Independent Risk Factors in 368 HFE p.C282Y Homozygotes. ( 30145563 )
2018
23
Adult onset hereditary hemochromatosis is associated with a novel recurrent Hemojuvelin (HJV) gene mutation in north Indians. ( 30195625 )
2018
24
Reduced phenotypic expression in genetic hemochromatosis with time: Role of exposure to non-genetic modifiers. ( 30244162 )
2018
25
The hemochromatosis protein HFE signals predominantly via the BMP type I receptor ALK3 in vivo. ( 30271947 )
2018
26
Opportunistic Screening for Hereditary Hemochromatosis With Unenhanced CT: Determination of an Optimal Liver Attenuation Threshold. ( 30300001 )
2018
27
Primary adrenal insufficiency and hemochromatosis - Cause and effect relationship or a coincidence? ( 30340758 )
2018
28
Iron-enriched diet contributes to early onset of osteoporotic phenotype in a mouse model of hereditary hemochromatosis. ( 30427936 )
2018
29
Iron as a Therapeutic Target in HFE-Related Hemochromatosis: Usual and Novel Aspects. ( 30486249 )
2018
30
A novel SLC40A1 p.Y333H mutation with gain-of-function of ferroportin: a recurrent cause of hemochromatosis in China. ( 30500107 )
2018
31
The mechanisms of systemic iron homeostasis and etiology, diagnosis, and treatment of hereditary hemochromatosis. ( 29134618 )
2018
32
Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis. ( 29154924 )
2018
33
Quality of life scores differs between genotypic groups of patients with suspected hereditary hemochromatosis. ( 29301508 )
2018
34
Reversal of end-stage heart failure in juvenile hemochromatosis with iron chelation therapy: a case report. ( 29373985 )
2018
35
Identification of Genes for Hereditary Hemochromatosis. ( 29423808 )
2018
36
Do pregnancies reduce iron overload in HFE hemochromatosis women? results from an observational prospective study. ( 29454332 )
2018
37
Gastroscopy findings in a patient with signet ring cell carcinoma and late‑onset hereditary hemochromatosis. ( 29511150 )
2018
38
Primary Hemochromatosis Presenting as Type 2 Diabetes Mellitus: A Case Report with Review of Literature. ( 29552540 )
2018
39
Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype. ( 29589198 )
2018
40
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
41
About genetic diagnosis of hereditary hemochromatosis. ( 29623879 )
2018
42
Phenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease. ( 29743178 )
2018
43
Should we use proton pump inhibitors as an add-on treatment in hereditary hemochromatosis? ( 29749343 )
2018
44
Hemochromatosis: Evaluation of the dietary iron model and regulation of hepcidin. ( 29752985 )
2018
45
A severe hemojuvelin mutation leading to late onset of HFE2-hemochromatosis. ( 29764732 )
2018
46
Management of cardiac hemochromatosis. ( 29765443 )
2018
47
Insulin Resistance and Metabolic Syndrome: Clinical and Laboratory Associations in African Americans Without Diabetes in the Hemochromatosis and Iron Overload Screening Study. ( 29851359 )
2018
48
Hypogonadotropic hypogonadism in men with hereditary hemochromatosis. ( 28694969 )
2017
49
Disparate clinical findings in monochorionic twins with neonatal hemochromatosis. ( 29359379 )
2017
50
Efficacy and safety of erythrocytapheresis and low-dose erythropoietin for treatment of hemochromatosis. ( 27271482 )
2017

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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