MCID: HMC009
MIFTS: 46

Hemochromatosis Type 2

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 77 54 60 15
Juvenile Hemochromatosis 12 54 60 30 6 74
Juvenile Hereditary Hemochromatosis 54
Iron Overload Disease Juvenile 54
Hemochromatosis, Juvenile 56
Hemochromatosis Juvenile 54
Hemochromatosis, Type 2 45
Hfe2 12
Jhh 12

Characteristics:

Orphanet epidemiological data:

60
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
MeSH 45 C537247
ICD10 34 E83.1
MESH via Orphanet 46 C537247
ICD10 via Orphanet 35 E83.1
UMLS via Orphanet 75 C0268060
Orphanet 60 ORPHA79230
UMLS 74 C0268060

Summaries for Hemochromatosis Type 2

NIH Rare Diseases : 54 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, pancreas and skin, and related phenotypes are congenital hepatic fibrosis and increased serum ferritin

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 : 77 Juvenile hemochromatosis is, as its name indicates, a form of hemochromatosis which emerges during... 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 35)
# Related Disease Score Top Affiliating Genes
1 hemochromatosis, type 2a 33.0 HAMP HJV
2 hemochromatosis, type 5 31.9 BMP6 HFE
3 hemochromatosis, type 3 31.3 HAMP HFE HJV SLC40A1 TFR2
4 hemochromatosis, type 4 31.3 HAMP HFE HJV SLC40A1 TFR2
5 hemosiderosis 30.3 HAMP HFE SLC40A1
6 hemochromatosis, type 1 30.1 ALAS2 BMP2 HAMP HFE HJV SLC40A1
7 juvenile hereditary hemochromatosis 11.2
8 hemochromatosis, neonatal 11.2
9 hemochromatosis, type 2b 11.2
10 siderosis 10.2 HFE SLC40A1
11 rhizomelic chondrodysplasia punctata, type 2 10.1 HAMP HFE
12 hypercarotenemia and vitamin a deficiency, autosomal dominant 10.0
13 osteoporosis 10.0
14 anemia, congenital dyserythropoietic, type ii 10.0
15 keratomalacia 10.0
16 fibrochondrogenesis 10.0 BMP2 BMP6
17 pulmonary hypertension, primary, 1 9.9 BMP2 BMP6
18 hemoglobinopathy 9.9 HAMP HFE
19 inherited metabolic disorder 9.9 HAMP HFE HJV TFR2
20 aceruloplasminemia 9.9 HAMP HFE HJV TFR2
21 iron metabolism disease 9.8 HFE HJV SLC40A1 TFR2
22 iron overload in africa 9.8 HAMP HFE SLC40A1 TFR2
23 acute porphyria 9.8 ALAS2 HFE
24 hepatocellular carcinoma 9.8
25 joint disorders 9.8
26 thalassemia 9.8
27 arthropathy 9.8
28 rere-related disorders 9.8
29 nonalcoholic steatohepatitis 9.8
30 cardiogenic shock 9.8
31 anemia, sideroblastic, 1 9.7 ALAS2 HAMP
32 metal metabolism disorder 9.7 HAMP HFE HJV SLC40A1 TFR2
33 iron deficiency anemia 9.7 HAMP HFE HJV SLC40A1 TFR2
34 atransferrinemia 9.2 ALAS2 HAMP HFE HJV SLC40A1 TFR2
35 deficiency anemia 9.2 ALAS2 HAMP HFE HJV SLC40A1 TFR2

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:

60 33 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital hepatic fibrosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002612
2 increased serum ferritin 60 33 hallmark (90%) Very frequent (99-80%) HP:0003281
3 elevated transferrin saturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0012463
4 diabetes mellitus 60 33 frequent (33%) Frequent (79-30%) HP:0000819
5 muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0001324
6 elevated hepatic transaminase 60 33 frequent (33%) Frequent (79-30%) HP:0002910
7 dilated cardiomyopathy 60 33 frequent (33%) Frequent (79-30%) HP:0001644
8 hypogonadism 60 33 frequent (33%) Frequent (79-30%) HP:0000135
9 lethargy 60 33 frequent (33%) Frequent (79-30%) HP:0001254
10 generalized hyperpigmentation 60 33 frequent (33%) Frequent (79-30%) HP:0007440
11 impotence 60 33 frequent (33%) Frequent (79-30%) HP:0000802
12 arthropathy 60 33 frequent (33%) Frequent (79-30%) HP:0003040
13 osteoporosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000939
14 abnormality of endocrine pancreas physiology 60 33 occasional (7.5%) Occasional (29-5%) HP:0012093
15 abnormality of iron homeostasis 60 Very frequent (99-80%)

MGI Mouse Phenotypes related to Hemochromatosis Type 2:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.23 ALAS2 BMP2 HFE HJV NAT8L NEO1

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 30

Anatomical Context for Hemochromatosis Type 2

MalaCards organs/tissues related to Hemochromatosis Type 2:

42
Liver, Pancreas, Skin, Heart, Testes

Publications for Hemochromatosis Type 2

Articles related to Hemochromatosis Type 2:

(show top 50) (show all 52)
# Title Authors Year
1
Variable expressivity of HJV related hemochromatosis: "Juvenile" hemochromatosis? ( 30389309 )
2019
2
Juvenile hemochromatosis with multi-organ involvement diagnosed at autopsy. ( 30583831 )
2019
3
Reversal of end-stage heart failure in juvenile hemochromatosis with iron chelation therapy: a case report. ( 29373985 )
2018
4
Juvenile hemochromatosis: HAMP mutation and severe iron overload treated with phlebotomies and deferasirox. ( 29085829 )
2017
5
Juvenile hemochromatosis and hepatocellular carcinoma in a patient with a novel mutation in the HJV gene. ( 28363629 )
2017
6
Iron Overload in the Liver of 2 Children: Nonalcoholic Steatohepatitis and Juvenile Hemochromatosis. ( 28067690 )
2017
7
Juvenile Hemochromatosis in Iran: A Case Report with 5-Year Follow-up after Treatment. ( 27252822 )
2016
8
Increased Retinal Expression of the Pro-Angiogenic Receptor GPR91 via BMP6 in a Mouse Model of Juvenile Hemochromatosis. ( 27046124 )
2016
9
HAMP Gene Mutation Associated with Juvenile Hemochromatosis in Brazilian Patients. ( 27007796 )
2016
10
Transferrin receptor 2 mutations in patients with juvenile hemochromatosis phenotype. ( 26408288 )
2015
11
Juvenile hemochromatosis associated with heterozygosity for novel hemojuvelin mutations and with unknown cofactors. ( 25152992 )
2014
12
Juvenile Hemochromatosis, Genetic Study and Long-term Follow up after Therapy. ( 24872867 )
2014
13
A late presentation of a fatal disease: juvenile hemochromatosis. ( 24106505 )
2013
14
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
15
Deferasirox reduces iron overload in a murine model of juvenile hemochromatosis. ( 19234060 )
2009
16
Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome. ( 19796184 )
2009
17
Glucose metabolism, insulin secretion and insulin sensitivity in juvenile hemochromatosis. A case report and review of the literature. ( 17427110 )
2007
18
Reversal of cardiac complications by deferiprone and deferoxamine combination therapy in a patient affected by a severe type of juvenile hemochromatosis (JH). ( 16960153 )
2007
19
Molecular mechanism of hepcidin deficiency in a patient with juvenile hemochromatosis. ( 17229647 )
2007
20
Defective targeting of hemojuvelin to plasma membrane is a common pathogenetic mechanism in juvenile hemochromatosis. ( 17264300 )
2007
21
Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl. ( 17339196 )
2007
22
A juvenile hemochromatosis patient homozygous for a novel deletion of cDNA nucleotide 81 of hemojuvelin. ( 16424663 )
2006
23
Juvenile hemochromatosis. ( 17034897 )
2006
24
Reversible cardiomyopathy in a patient with juvenile hemochromatosis. ( 15992946 )
2006
25
Osteoporosis in HFE2 juvenile hemochromatosis. A case report and review of the literature. ( 15997423 )
2006
26
Gene symbol: HFE2a (HJV). Disease: juvenile hemochromatosis. ( 16521298 )
2005
27
Juvenile hemochromatosis associated with pathogenic mutations of adult hemochromatosis genes. ( 15685557 )
2005
28
HJV gene mutations in European patients with juvenile hemochromatosis. ( 15811010 )
2005
29
Juvenile hemochromatosis due to G320V/Q116X compound heterozygosity of hemojuvelin in an Irish patient. ( 15967692 )
2005
30
A mouse model of juvenile hemochromatosis. ( 16075059 )
2005
31
Homozygosity for a novel nonsense mutation (G66X) of the HJV gene causes severe juvenile hemochromatosis with fatal cardiomyopathy. ( 15611318 )
2005
32
Juvenile hemochromatosis HJV-related revealed by cardiogenic shock. ( 15315789 )
2004
33
Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin. ( 14982867 )
2004
34
Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. ( 14982873 )
2004
35
A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis. ( 15099344 )
2004
36
Prevalence of the G320V mutation of the HJV gene, associated with juvenile hemochromatosis, in Greece. ( 15194541 )
2004
37
Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R). ( 14630809 )
2004
38
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. ( 14647275 )
2004
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
Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. ( 12469120 )
2003
43
Genetic heterogeneity underlies juvenile hemochromatosis phenotype: analysis of three families of northern Greek origin. ( 12490283 )
2002
44
Juvenile hemochromatosis in a Spanish family. ( 12064925 )
2002
45
Juvenile hemochromatosis. ( 12382199 )
2002
46
Commentary: Juvenile hemochromatosis in a Spanish family (by Montes-Cano et al.). ( 12482407 )
2002
47
Juvenile hemochromatosis in the southeastern United States: a report of seven cases in two kinships. ( 12482411 )
2002
48
Linkage to chromosome 1q in Greek families with juvenile hemochromatosis. ( 11778658 )
2001
49
Clinical and molecular aspects of juvenile hemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, canada). ( 10772871 )
2000
50
Juvenile hemochromatosis associated with B-thalassemia treated by phlebotomy and recombinant human erythropoietin. ( 10942934 )
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
11.31 BMP2 BMP6 HJV RGMA
3 10.21 HAMP SLC40A1 TFR2
4 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 plasma membrane protein complex GO:0098797 9.16 HJV NEO1
2 BMP receptor complex GO:0070724 8.96 BMP2 HJV
3 HFE-transferrin receptor complex GO:1990712 8.8 HFE HJV TFR2

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 9.97 BMP2 BMP6 HJV RGMA SLC40A1 TFR2
2 negative regulation of transcription by RNA polymerase II GO:0000122 9.88 BMP2 BMP6 HAMP HJV
3 BMP signaling pathway GO:0030509 9.72 BMP2 BMP6 HFE HJV RGMA
4 positive regulation of pathway-restricted SMAD protein phosphorylation GO:0010862 9.65 BMP2 BMP6 HFE
5 cell development GO:0048468 9.61 BMP2 BMP6
6 acute-phase response GO:0006953 9.61 HAMP HFE TFR2
7 positive regulation of osteoblast differentiation GO:0045669 9.6 BMP2 BMP6
8 regulation of MAPK cascade GO:0043408 9.59 BMP2 BMP6
9 SMAD protein signal transduction GO:0060395 9.58 BMP2 BMP6
10 cellular response to BMP stimulus GO:0071773 9.58 BMP2 BMP6 HJV
11 liver regeneration GO:0097421 9.57 HAMP HFE
12 transferrin transport GO:0033572 9.56 HFE TFR2
13 response to iron ion GO:0010039 9.56 BMP6 HAMP HFE TFR2
14 positive regulation of bone mineralization GO:0030501 9.55 BMP2 BMP6
15 iron ion transport GO:0006826 9.54 SLC40A1 TFR2
16 cellular response to iron ion GO:0071281 9.54 BMP6 HFE TFR2
17 positive regulation of peptide hormone secretion GO:0090277 9.52 HFE TFR2
18 negative regulation of receptor binding GO:1900121 9.51 HFE RGMA
19 response to iron ion starvation GO:1990641 9.46 HAMP HFE
20 multicellular organismal iron ion homeostasis GO:0060586 9.46 BMP6 HAMP HFE SLC40A1
21 iron ion homeostasis GO:0055072 9.35 HFE HJV NEO1 SLC40A1 TFR2
22 cellular iron ion homeostasis GO:0006879 9.17 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 9.56 BMP2 HFE HJV RGMA
2 transforming growth factor beta receptor binding GO:0005160 9.37 BMP2 BMP6
3 coreceptor activity GO:0015026 9.32 HJV RGMA
4 BMP receptor binding GO:0070700 9.16 BMP2 BMP6
5 transferrin receptor binding GO:1990459 9.13 HFE HJV RGMA
6 co-receptor binding GO:0039706 8.92 BMP2 HFE NEO1 TFR2

Sources for Hemochromatosis Type 2

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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