JHH
MCID: HMC009
MIFTS: 51

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 76 53 59 15
Juvenile Hemochromatosis 12 53 59 29 6 73
Juvenile Hereditary Hemochromatosis 53
Iron Overload Disease Juvenile 53
Hemochromatosis, Juvenile 55
Hemochromatosis Juvenile 53
Hemochromatosis, Type 2 44
Hfe2 12
Jhh 12

Characteristics:

Orphanet epidemiological data:

59
hemochromatosis type 2
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: young Adult;

Classifications:



External Ids:

Disease Ontology 12 DOID:0111034
ICD10 33 E83.1
MeSH 44 C537247
Orphanet 59 ORPHA79230
MESH via Orphanet 45 C537247
ICD10 via Orphanet 34 E83.1
UMLS via Orphanet 74 C0268060
UMLS 73 C0268060

Summaries for Hemochromatosis Type 2

NIH Rare Diseases : 53 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. An important gene associated with Hemochromatosis Type 2 is HJV (Hemojuvelin BMP Co-Receptor), and among its related pathways/superpathways are Netrin-1 signaling and Signaling by BMP. Affiliated tissues include liver, skin and pancreas, and related phenotypes are diabetes mellitus and muscle weakness

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 : 76 Juvenile hemochromatosis (or hemochromatosis type 2) is, as its name indicates, a form of... more...

Related Diseases for Hemochromatosis Type 2

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

(show all 37)
# Related Disease Score Top Affiliating Genes
1 hemochromatosis, type 2a 32.8 HAMP HJV
2 hemochromatosis, type 5 31.8 BMP6 HFE
3 hemochromatosis, type 3 31.4 HAMP HFE HJV SLC40A1 TFR2
4 hemochromatosis, type 4 31.2 HAMP HFE HJV SLC40A1 TF TFR2
5 hemochromatosis, type 1 30.7 ALAS2 HAMP HFE HJV SLC40A1 TF
6 hemosiderosis 30.0 HAMP HFE SLC40A1 TF
7 juvenile hereditary hemochromatosis 11.1
8 hemochromatosis, neonatal 11.1
9 hemochromatosis, type 2b 11.1
10 rhizomelic chondrodysplasia punctata, type 2 10.1 HAMP HFE
11 hfe-associated hereditary hemochromatosis 10.1 HFE HJV TFR2
12 hyperferritinemia with or without cataract 10.0 HFE TF
13 hypercarotenemia and vitamin a deficiency, autosomal dominant 10.0
14 osteoporosis 10.0
15 anemia, congenital dyserythropoietic, type ii 10.0
16 keratomalacia 10.0
17 hemoglobinopathy 10.0 HAMP HFE TF
18 porphyria cutanea tarda 10.0 HAMP HFE TF
19 siderosis 10.0 HFE SLC40A1 TF
20 beta-thalassemia 9.9 HFE TF TFR2
21 acute porphyria 9.9 ALAS2 HFE
22 anemia, sideroblastic, 1 9.8 ALAS2 HAMP
23 hepatocellular carcinoma 9.8
24 thalassemia 9.8
25 arthropathy 9.8
26 nonalcoholic steatohepatitis 9.8
27 cardiogenic shock 9.8
28 inherited metabolic disorder 9.8 HAMP HFE HJV TF TFR2
29 aceruloplasminemia 9.8 HAMP HFE HJV TF TFR2
30 porphyria 9.8 ALAS2 HFE TF
31 iron metabolism disease 9.8 HFE HJV SLC40A1 TF TFR2
32 iron overload in africa 9.8 HAMP HFE SLC40A1 TF TFR2
33 microcytic anemia 9.7 ALAS2 TF
34 metal metabolism disorder 9.7 HAMP HFE HJV SLC40A1 TF TFR2
35 iron deficiency anemia 9.7 HAMP HFE HJV SLC40A1 TF TFR2
36 atransferrinemia 9.4 ALAS2 HAMP HFE HJV SLC40A1 TF
37 deficiency anemia 9.4 ALAS2 HAMP HFE HJV SLC40A1 TF

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:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0000819
2 muscle weakness 59 32 frequent (33%) Frequent (79-30%) HP:0001324
3 osteoporosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000939
4 dilated cardiomyopathy 59 32 frequent (33%) Frequent (79-30%) HP:0001644
5 hypogonadism 59 32 frequent (33%) Frequent (79-30%) HP:0000135
6 congenital hepatic fibrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002612
7 lethargy 59 32 frequent (33%) Frequent (79-30%) HP:0001254
8 generalized hyperpigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007440
9 impotence 59 32 frequent (33%) Frequent (79-30%) HP:0000802
10 increased serum ferritin 59 32 hallmark (90%) Very frequent (99-80%) HP:0003281
11 elevated transferrin saturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0012463
12 arthropathy 59 32 frequent (33%) Frequent (79-30%) HP:0003040
13 abnormality of endocrine pancreas physiology 59 32 occasional (7.5%) Occasional (29-5%) HP:0012093
14 elevated hepatic transaminases 59 Frequent (79-30%)
15 abnormality of iron homeostasis 59 Very frequent (99-80%)
16 elevated hepatic transaminase 32 frequent (33%) HP:0002910

Drugs & Therapeutics for Hemochromatosis Type 2

Search Clinical Trials , NIH Clinical Center for Hemochromatosis Type 2

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:

41
Liver, Skin, Pancreas, Heart, Testes, Kidney, Bone

Publications for Hemochromatosis Type 2

Articles related to Hemochromatosis Type 2:

(show top 50) (show all 51)
# Title Authors Year
1
Variable expressivity of HJV related hemochromatosis: "Juvenile" hemochromatosis? ( 30389309 )
2019
2
Reversal of end-stage heart failure in juvenile hemochromatosis with iron chelation therapy: a case report. ( 29373985 )
2018
3
Iron Overload in the Liver of 2 Children: Nonalcoholic Steatohepatitis and Juvenile Hemochromatosis. ( 28067690 )
2017
4
Juvenile hemochromatosis and hepatocellular carcinoma in a patient with a novel mutation in the HJV gene. ( 28363629 )
2017
5
Juvenile hemochromatosis: HAMP mutation and severe iron overload treated with phlebotomies and deferasirox. ( 29085829 )
2017
6
HAMP Gene Mutation Associated with Juvenile Hemochromatosis in Brazilian Patients. ( 27007796 )
2016
7
Increased Retinal Expression of the Pro-Angiogenic Receptor GPR91 via BMP6 in a Mouse Model of Juvenile Hemochromatosis. ( 27046124 )
2016
8
Juvenile Hemochromatosis in Iran: A Case Report with 5-Year Follow-up after Treatment. ( 27252822 )
2016
9
TFR2 mutations in patients with juvenile hemochromatosis phenotype. ( 26408288 )
2015
10
Juvenile hemochromatosis associated with heterozygosity for novel hemojuvelin mutations and with unknown cofactors. ( 25152992 )
2014
11
Juvenile Hemochromatosis, Genetic Study and Long-term Follow up after Therapy. ( 24872867 )
2014
12
A late presentation of a fatal disease: juvenile hemochromatosis. ( 24106505 )
2013
13
Identification of a novel mutation in the HAMP gene that causes non-detectable hepcidin molecules in a Japanese male patient with juvenile hemochromatosis. ( 22297252 )
2012
14
Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome. ( 19796184 )
2009
15
Deferasirox reduces iron overload in a murine model of juvenile hemochromatosis. ( 19234060 )
2009
16
Defective targeting of hemojuvelin to plasma membrane is a common pathogenetic mechanism in juvenile hemochromatosis. ( 17264300 )
2007
17
Molecular mechanism of hepcidin deficiency in a patient with juvenile hemochromatosis. ( 17229647 )
2007
18
Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl. ( 17339196 )
2007
19
Glucose metabolism, insulin secretion and insulin sensitivity in juvenile hemochromatosis. A case report and review of the literature. ( 17427110 )
2007
20
Reversal of cardiac complications by deferiprone and deferoxamine combination therapy in a patient affected by a severe type of juvenile hemochromatosis (JH). ( 16960153 )
2007
21
Reversible cardiomyopathy in a patient with juvenile hemochromatosis. ( 15992946 )
2006
22
Osteoporosis in HFE2 juvenile hemochromatosis. A case report and review of the literature. ( 15997423 )
2006
23
A juvenile hemochromatosis patient homozygous for a novel deletion of cDNA nucleotide 81 of hemojuvelin. ( 16424663 )
2006
24
Juvenile hemochromatosis. ( 17034897 )
2006
25
Juvenile hemochromatosis associated with pathogenic mutations of adult hemochromatosis genes. ( 15685557 )
2005
26
HJV gene mutations in European patients with juvenile hemochromatosis. ( 15811010 )
2005
27
A mouse model of juvenile hemochromatosis. ( 16075059 )
2005
28
Juvenile hemochromatosis due to G320V/Q116X compound heterozygosity of hemojuvelin in an Irish patient. ( 15967692 )
2005
29
Homozygosity for a novel nonsense mutation (G66X) of the HJV gene causes severe juvenile hemochromatosis with fatal cardiomyopathy. ( 15611318 )
2005
30
Gene symbol: HFE2a (HJV). Disease: juvenile hemochromatosis. ( 16521298 )
2005
31
Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin. ( 14982867 )
2004
32
A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis. ( 15099344 )
2004
33
Prevalence of the G320V mutation of the HJV gene, associated with juvenile hemochromatosis, in Greece. ( 15194541 )
2004
34
Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R). ( 14630809 )
2004
35
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. ( 14647275 )
2004
36
Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. ( 14982873 )
2004
37
Juvenile hemochromatosis HJV-related revealed by cardiogenic shock. ( 15315789 )
2004
38
Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. ( 12469120 )
2003
39
Arthropathy in juvenile hemochromatosis. ( 12528123 )
2003
40
Diagnosis of juvenile hemochromatosis in an 11-year-old child combining genetic analysis and non-invasive liver iron quantitation. ( 12548385 )
2003
41
Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population. ( 12891378 )
2003
42
Juvenile hemochromatosis in a Spanish family. ( 12064925 )
2002
43
Juvenile hemochromatosis. ( 12382199 )
2002
44
Commentary: Juvenile hemochromatosis in a Spanish family (by Montes-Cano et al.). ( 12482407 )
2002
45
Juvenile hemochromatosis in the southeastern United States: a report of seven cases in two kinships. ( 12482411 )
2002
46
Genetic heterogeneity underlies juvenile hemochromatosis phenotype: analysis of three families of northern Greek origin. ( 12490283 )
2002
47
Linkage to chromosome 1q in Greek families with juvenile hemochromatosis. ( 11778658 )
2001
48
Clinical and molecular aspects of juvenile hemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, canada). ( 10772871 )
2000
49
Juvenile hemochromatosis associated with B-thalassemia treated by phlebotomy and recombinant human erythropoietin. ( 10942934 )
2000
50
Exclusion of ZIRTL as candidate gene of juvenile hemochromatosis and refinement of the critical interval on 1q21. ( 10950940 )
2000

Variations for Hemochromatosis Type 2

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.31 HJV NEO1 RGMA
2
Show member pathways
11.19 BMP6 HJV RGMA
3 11.08 SLC40A1 TF
4 10.92 SLC40A1 TF
5 10.34 HAMP SLC40A1 TF TFR2
6 9.77 BMP6 HAMP HFE HJV

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 extracellular space GO:0005615 9.73 BMP6 CCL15 HAMP HFE HJV TF
2 basal part of cell GO:0045178 9.16 HFE TF
3 plasma membrane protein complex GO:0098797 8.96 HJV NEO1
4 HFE-transferrin receptor complex GO:1990712 8.92 HFE HJV TF TFR2

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.96 BMP6 HJV RGMA SLC40A1 TFR2
2 immune response GO:0006955 9.85 BMP6 CCL15 HAMP HFE
3 BMP signaling pathway GO:0030509 9.67 BMP6 HFE HJV RGMA
4 acute-phase response GO:0006953 9.63 HAMP HFE TFR2
5 response to iron ion GO:0010039 9.62 BMP6 HAMP HFE TFR2
6 transferrin transport GO:0033572 9.61 HFE TF TFR2
7 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.58 BMP6 HFE
8 cellular response to BMP stimulus GO:0071773 9.58 BMP6 HJV
9 iron ion transport GO:0006826 9.58 SLC40A1 TF TFR2
10 liver regeneration GO:0097421 9.57 HAMP HFE
11 multicellular organismal iron ion homeostasis GO:0060586 9.56 BMP6 HAMP HFE SLC40A1
12 positive regulation of receptor-mediated endocytosis GO:0048260 9.54 HFE TF
13 positive regulation of peptide hormone secretion GO:0090277 9.52 HFE TFR2
14 negative regulation of receptor binding GO:1900121 9.51 HFE RGMA
15 regulation of iron ion import GO:1900390 9.49 HFE TF
16 response to iron ion starvation GO:1990641 9.48 HAMP HFE
17 cellular response to iron ion GO:0071281 9.46 BMP6 HFE TF TFR2
18 iron ion homeostasis GO:0055072 9.43 HFE HJV NEO1 SLC40A1 TF TFR2
19 cellular iron ion homeostasis GO:0006879 9.23 ALAS2 BMP6 HAMP HFE HJV SLC40A1

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

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.46 CCL15 HFE HJV RGMA
2 coreceptor activity GO:0015026 9.26 HJV RGMA
3 co-receptor binding GO:0039706 9.13 HFE NEO1 TFR2
4 transferrin receptor binding GO:1990459 8.92 HFE HJV RGMA TF

Sources for Hemochromatosis Type 2

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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