MCID: HMC009
MIFTS: 42

Hemochromatosis Type 2

Categories: Rare diseases, Liver diseases, Metabolic diseases, Genetic diseases

Aliases & Classifications for Hemochromatosis Type 2

MalaCards integrated aliases for Hemochromatosis Type 2:

Name: Hemochromatosis Type 2 12 76 53 59
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 4. An important gene associated with Hemochromatosis Type 2 is HJV (Hemojuvelin BMP Co-Receptor), and among its related pathways/superpathways are Iron metabolism in placenta and Hfe effect on hepcidin production. Affiliated tissues include liver, pancreas and testes, and related phenotypes are hypogonadism and impotence

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

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

MGI Mouse Phenotypes related to Hemochromatosis Type 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 8.92 HFE HJV SLC40A1 TFR2

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, Pancreas, Testes, Skin, Heart

Publications for Hemochromatosis Type 2

Articles related to Hemochromatosis Type 2:

(show all 33)
# Title Authors Year
1
Iron Overload in the Liver of 2 Children: Nonalcoholic Steatohepatitis and Juvenile Hemochromatosis. ( 28067690 )
2017
2
Juvenile hemochromatosis and hepatocellular carcinoma in a patient with a novel mutation in the HJV gene. ( 28363629 )
2017
3
HAMP Gene Mutation Associated with Juvenile Hemochromatosis in Brazilian Patients. ( 27007796 )
2016
4
Increased Retinal Expression of the Pro-Angiogenic Receptor GPR91 via BMP6 in a Mouse Model of Juvenile Hemochromatosis. ( 27046124 )
2016
5
TFR2 mutations in patients with juvenile hemochromatosis phenotype. ( 26408288 )
2015
6
Juvenile hemochromatosis associated with heterozygosity for novel hemojuvelin mutations and with unknown cofactors. ( 25152992 )
2014
7
A late presentation of a fatal disease: juvenile hemochromatosis. ( 24106505 )
2013
8
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
9
Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome. ( 19796184 )
2009
10
Deferasirox reduces iron overload in a murine model of juvenile hemochromatosis. ( 19234060 )
2009
11
Defective targeting of hemojuvelin to plasma membrane is a common pathogenetic mechanism in juvenile hemochromatosis. ( 17264300 )
2007
12
Molecular mechanism of hepcidin deficiency in a patient with juvenile hemochromatosis. ( 17229647 )
2007
13
Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl. ( 17339196 )
2007
14
Glucose metabolism, insulin secretion and insulin sensitivity in juvenile hemochromatosis. A case report and review of the literature. ( 17427110 )
2007
15
A juvenile hemochromatosis patient homozygous for a novel deletion of cDNA nucleotide 81 of hemojuvelin. ( 16424663 )
2006
16
Juvenile hemochromatosis associated with pathogenic mutations of adult hemochromatosis genes. ( 15685557 )
2005
17
HJV gene mutations in European patients with juvenile hemochromatosis. ( 15811010 )
2005
18
A mouse model of juvenile hemochromatosis. ( 16075059 )
2005
19
Juvenile hemochromatosis due to G320V/Q116X compound heterozygosity of hemojuvelin in an Irish patient. ( 15967692 )
2005
20
Homozygosity for a novel nonsense mutation (G66X) of the HJV gene causes severe juvenile hemochromatosis with fatal cardiomyopathy. ( 15611318 )
2005
21
Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin. ( 14982867 )
2004
22
A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis. ( 15099344 )
2004
23
Prevalence of the G320V mutation of the HJV gene, associated with juvenile hemochromatosis, in Greece. ( 15194541 )
2004
24
Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R). ( 14630809 )
2004
25
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. ( 14647275 )
2004
26
Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. ( 14982873 )
2004
27
Juvenile hemochromatosis HJV-related revealed by cardiogenic shock. ( 15315789 )
2004
28
Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. ( 12469120 )
2003
29
Juvenile hemochromatosis in a Spanish family. ( 12064925 )
2002
30
Juvenile hemochromatosis. ( 12382199 )
2002
31
Linkage to chromosome 1q in Greek families with juvenile hemochromatosis. ( 11778658 )
2001
32
Clinical and molecular aspects of juvenile hemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, canada). ( 10772871 )
2000
33
Juvenile hemochromatosis locus maps to chromosome 1q. ( 10205270 )
1999

Variations for Hemochromatosis Type 2

ClinVar genetic disease variations for Hemochromatosis Type 2:

6
(show all 48)
# Gene Variation Type Significance SNP ID Assembly Location
1 HJV NM_213653.3(HJV): c.98-6C> G single nucleotide variant Benign/Likely benign rs56025621 GRCh38 Chromosome 1, 146019740: 146019740
2 HJV NM_213653.3(HJV): c.98-6C> G single nucleotide variant Benign/Likely benign rs56025621 GRCh37 Chromosome 1, 145415273: 145415273
3 HJV NM_213653.3(HJV): c.986G> C (p.Arg329Pro) single nucleotide variant Uncertain significance rs782614415 GRCh38 Chromosome 1, 146018372: 146018372
4 HJV NM_213653.3(HJV): c.986G> C (p.Arg329Pro) single nucleotide variant Uncertain significance rs782614415 GRCh37 Chromosome 1, 145416641: 145416641
5 HJV NM_213653.3(HJV): c.929C> G (p.Ala310Gly) single nucleotide variant Benign/Likely benign rs7540883 GRCh38 Chromosome 1, 146018429: 146018429
6 HJV NM_213653.3(HJV): c.929C> G (p.Ala310Gly) single nucleotide variant Benign/Likely benign rs7540883 GRCh37 Chromosome 1, 145416584: 145416584
7 HJV NM_213653.3(HJV): c.345C> T (p.Ile115=) single nucleotide variant Uncertain significance rs142575526 GRCh38 Chromosome 1, 146019487: 146019487
8 HJV NM_213653.3(HJV): c.345C> T (p.Ile115=) single nucleotide variant Uncertain significance rs142575526 GRCh37 Chromosome 1, 145415526: 145415526
9 HJV NM_213653.3(HJV): c.-154C> T single nucleotide variant Uncertain significance rs886045235 GRCh37 Chromosome 1, 145413362: 145413362
10 HJV NM_213653.3(HJV): c.-154C> T single nucleotide variant Uncertain significance rs886045235 GRCh38 Chromosome 1, 146021651: 146021651
11 HJV NM_213653.3(HJV): c.*288A> C single nucleotide variant Uncertain significance rs886045241 GRCh38 Chromosome 1, 146017789: 146017789
12 HJV NM_213653.3(HJV): c.*288A> C single nucleotide variant Uncertain significance rs886045241 GRCh37 Chromosome 1, 145417224: 145417224
13 HJV NM_213653.3(HJV): c.756C> T (p.Ile252=) single nucleotide variant Uncertain significance rs148524451 GRCh38 Chromosome 1, 146018602: 146018602
14 HJV NM_213653.3(HJV): c.756C> T (p.Ile252=) single nucleotide variant Uncertain significance rs148524451 GRCh37 Chromosome 1, 145416411: 145416411
15 HJV NM_213653.3(HJV): c.522T> C (p.His174=) single nucleotide variant Uncertain significance rs587646422 GRCh38 Chromosome 1, 146019310: 146019310
16 HJV NM_213653.3(HJV): c.522T> C (p.His174=) single nucleotide variant Uncertain significance rs587646422 GRCh37 Chromosome 1, 145415703: 145415703
17 HJV NM_213653.3(HJV): c.-135T> C single nucleotide variant Uncertain significance rs111753853 GRCh37 Chromosome 1, 145413381: 145413381
18 HJV NM_213653.3(HJV): c.-135T> C single nucleotide variant Uncertain significance rs111753853 GRCh38 Chromosome 1, 146021632: 146021632
19 HJV NM_213653.3(HJV): c.-203C> T single nucleotide variant Uncertain significance rs781908480 GRCh37 Chromosome 1, 145413313: 145413313
20 HJV NM_213653.3(HJV): c.-203C> T single nucleotide variant Uncertain significance rs781908480 GRCh38 Chromosome 1, 146021700: 146021700
21 HJV NM_213653.3(HJV): c.-248delC deletion Uncertain significance rs886045234 GRCh37 Chromosome 1, 145413268: 145413268
22 HJV NM_213653.3(HJV): c.-248delC deletion Uncertain significance rs886045234 GRCh38 Chromosome 1, 146021745: 146021745
23 HJV NM_213653.3(HJV): c.1257T> G (p.Phe419Leu) single nucleotide variant Uncertain significance rs782429427 GRCh38 Chromosome 1, 146018101: 146018101
24 HJV NM_213653.3(HJV): c.1257T> G (p.Phe419Leu) single nucleotide variant Uncertain significance rs782429427 GRCh37 Chromosome 1, 145416912: 145416912
25 HJV NM_213653.3(HJV): c.1254C> G (p.Leu418=) single nucleotide variant Uncertain significance rs886045240 GRCh38 Chromosome 1, 146018104: 146018104
26 HJV NM_213653.3(HJV): c.1254C> G (p.Leu418=) single nucleotide variant Uncertain significance rs886045240 GRCh37 Chromosome 1, 145416909: 145416909
27 HJV NM_213653.3(HJV): c.828C> A (p.Ile276=) single nucleotide variant Uncertain significance rs140919572 GRCh38 Chromosome 1, 146018530: 146018530
28 HJV NM_213653.3(HJV): c.828C> A (p.Ile276=) single nucleotide variant Uncertain significance rs140919572 GRCh37 Chromosome 1, 145416483: 145416483
29 HJV NM_213653.3(HJV): c.409G> A (p.Gly137Ser) single nucleotide variant Uncertain significance rs587719388 GRCh38 Chromosome 1, 146019423: 146019423
30 HJV NM_213653.3(HJV): c.409G> A (p.Gly137Ser) single nucleotide variant Uncertain significance rs587719388 GRCh37 Chromosome 1, 145415590: 145415590
31 HJV NM_213653.3(HJV): c.286A> T (p.Thr96Ser) single nucleotide variant Uncertain significance rs782480409 GRCh37 Chromosome 1, 145415467: 145415467
32 HJV NM_213653.3(HJV): c.286A> T (p.Thr96Ser) single nucleotide variant Uncertain significance rs782480409 GRCh38 Chromosome 1, 146019546: 146019546
33 HJV NM_213653.3(HJV): c.1113C> T (p.Pro371=) single nucleotide variant Uncertain significance rs886045239 GRCh37 Chromosome 1, 145416768: 145416768
34 HJV NM_213653.3(HJV): c.1113C> T (p.Pro371=) single nucleotide variant Uncertain significance rs886045239 GRCh38 Chromosome 1, 146018245: 146018245
35 HJV NM_213653.3(HJV): c.559G> T (p.Val187Phe) single nucleotide variant Uncertain significance rs886045238 GRCh38 Chromosome 1, 146019273: 146019273
36 HJV NM_213653.3(HJV): c.559G> T (p.Val187Phe) single nucleotide variant Uncertain significance rs886045238 GRCh37 Chromosome 1, 145415740: 145415740
37 HJV NM_213653.3(HJV): c.435G> C (p.Pro145=) single nucleotide variant Uncertain significance rs370184725 GRCh38 Chromosome 1, 146019397: 146019397
38 HJV NM_213653.3(HJV): c.435G> C (p.Pro145=) single nucleotide variant Uncertain significance rs370184725 GRCh37 Chromosome 1, 145415616: 145415616
39 HJV NM_213653.3(HJV): c.204_206delAGG (p.Gly69del) deletion Uncertain significance rs886045236 GRCh37 Chromosome 1, 145415385: 145415387
40 HJV NM_213653.3(HJV): c.204_206delAGG (p.Gly69del) deletion Uncertain significance rs886045236 GRCh38 Chromosome 1, 146019626: 146019628
41 HJV NM_213653.3(HJV): c.201A> C (p.Gly67=) single nucleotide variant Uncertain significance rs782445206 GRCh37 Chromosome 1, 145415382: 145415382
42 HJV NM_213653.3(HJV): c.201A> C (p.Gly67=) single nucleotide variant Uncertain significance rs782445206 GRCh38 Chromosome 1, 146019631: 146019631
43 HJV NM_213653.3(HJV): c.188G> A (p.Arg63Gln) single nucleotide variant Uncertain significance rs886045237 GRCh37 Chromosome 1, 145415369: 145415369
44 HJV NM_213653.3(HJV): c.188G> A (p.Arg63Gln) single nucleotide variant Uncertain significance rs886045237 GRCh38 Chromosome 1, 146019644: 146019644
45 HAMP NM_021175.3(HAMP): c.-1G> A single nucleotide variant Uncertain significance rs149146279 GRCh37 Chromosome 19, 35773480: 35773480
46 HAMP NM_021175.3(HAMP): c.-1G> A single nucleotide variant Uncertain significance rs149146279 GRCh38 Chromosome 19, 35282577: 35282577
47 HAMP NM_021175.3(HAMP): c.-67G> C single nucleotide variant Uncertain significance rs886054342 GRCh37 Chromosome 19, 35773414: 35773414
48 HAMP NM_021175.3(HAMP): c.-67G> C single nucleotide variant Uncertain significance rs886054342 GRCh38 Chromosome 19, 35282511: 35282511

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 10.21 HAMP SLC40A1 TFR2
2 9.64 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 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 12)
# Name GO ID Score Top Affiliating Genes
1 BMP signaling pathway GO:0030509 9.51 HFE HJV
2 acute-phase response GO:0006953 9.5 HAMP HFE TFR2
3 transferrin transport GO:0033572 9.49 HFE TFR2
4 liver regeneration GO:0097421 9.48 HAMP HFE
5 iron ion transport GO:0006826 9.46 SLC40A1 TFR2
6 positive regulation of peptide hormone secretion GO:0090277 9.43 HFE TFR2
7 response to iron ion GO:0010039 9.43 HAMP HFE TFR2
8 cellular response to iron ion GO:0071281 9.4 HFE TFR2
9 response to iron ion starvation GO:1990641 9.37 HAMP HFE
10 multicellular organismal iron ion homeostasis GO:0060586 9.33 HAMP HFE SLC40A1
11 iron ion homeostasis GO:0055072 9.26 HFE HJV SLC40A1 TFR2
12 cellular iron ion homeostasis GO:0006879 9.02 HAMP HFE HJV SLC40A1 TFR2

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

# Name GO ID Score Top Affiliating Genes
1 co-receptor binding GO:0039706 8.96 HFE TFR2
2 transferrin receptor binding GO:1990459 8.62 HFE HJV

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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