MCID: HMC019
MIFTS: 23

Hemochromatosis, Type 2b

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

Aliases & Classifications for Hemochromatosis, Type 2b

MalaCards integrated aliases for Hemochromatosis, Type 2b:

Name: Hemochromatosis, Type 2b 57 13 40 73
Hemochromatosis Type 2b 12 29 6
Hfe2b 57 12 75
Hemochromatosis 2b 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset is usually before 30 years of age


HPO:

32
hemochromatosis, type 2b:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hemochromatosis, Type 2b

UniProtKB/Swiss-Prot : 75 Hemochromatosis 2B: A juvenile form of hemochromatosis, a disorder of iron metabolism with excess deposition of iron in a variety of organs leading to their failure, bronze skin pigmentation, hepatic cirrhosis, arthropathy and diabetes. The most common symptoms of juvenile hemochromatosis at presentation are hypogonadism and cardiomyopathy.

MalaCards based summary : Hemochromatosis, Type 2b, is also known as hemochromatosis type 2b. An important gene associated with Hemochromatosis, Type 2b is HAMP (Hepcidin Antimicrobial Peptide). Affiliated tissues include skin and heart, and related phenotypes are hypogonadism and cirrhosis

Disease Ontology : 12 A hemochromatosis type 2 that has material basis in homozygous mutation in the HAMP gene on chromosome 19q13.

OMIM : 57 Juvenile, or type 2, hemochromatosis is an autosomal recessive inborn error of iron metabolism that leads to severe iron loading and organ failure before 30 years of age (summary by Roetto et al., 1999). HFE2B is caused by mutation in the HAMP gene (606464). HFE2 is genetically heterogeneous (see HFE2A, 602390). (613313)

Related Diseases for Hemochromatosis, Type 2b

Symptoms & Phenotypes for Hemochromatosis, Type 2b

Symptoms via clinical synopsis from OMIM:

57
AbdomenSpleen:
splenomegaly

Hematology:
anemia

Genitourinary External Genitalia Male:
hypogonadism

Laboratory Abnormalities:
increased serum ferritin
increased serum iron
increased transaminases
increased or complete (100%) transferrin saturation

Abdomen Liver:
hepatomegaly
cirrhosis
fibrosis

Cardiovascular Heart:
cardiomyopathy
heart failure

Genitourinary External Genitalia Female:
hypogonadism

Skin Nails Hair Skin:
hyperpigmentation


Clinical features from OMIM:

613313

Human phenotypes related to Hemochromatosis, Type 2b:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 hypogonadism 32 HP:0000135
2 cirrhosis 32 HP:0001394
3 congestive heart failure 32 HP:0001635
4 cardiomyopathy 32 HP:0001638
5 splenomegaly 32 HP:0001744
6 anemia 32 HP:0001903
7 hepatomegaly 32 HP:0002240
8 elevated hepatic transaminases 32 HP:0002910
9 increased serum ferritin 32 HP:0003281
10 increased serum iron 32 HP:0003452
11 abnormality of iron homeostasis 32 HP:0011031

Drugs & Therapeutics for Hemochromatosis, Type 2b

Search Clinical Trials , NIH Clinical Center for Hemochromatosis, Type 2b

Genetic Tests for Hemochromatosis, Type 2b

Genetic tests related to Hemochromatosis, Type 2b:

# Genetic test Affiliating Genes
1 Hemochromatosis Type 2b 29 HAMP

Anatomical Context for Hemochromatosis, Type 2b

MalaCards organs/tissues related to Hemochromatosis, Type 2b:

41
Skin, Heart

Publications for Hemochromatosis, Type 2b

Variations for Hemochromatosis, Type 2b

UniProtKB/Swiss-Prot genetic disease variations for Hemochromatosis, Type 2b:

75
# Symbol AA change Variation ID SNP ID
1 HAMP p.Gly71Asp VAR_026648 rs104894696
2 HAMP p.Arg59Gly VAR_042512 rs779021719
3 HAMP p.Cys70Arg VAR_042513
4 HAMP p.Cys78Tyr VAR_042514

ClinVar genetic disease variations for Hemochromatosis, Type 2b:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HAMP NM_021175.3(HAMP): c.166C> T (p.Arg56Ter) single nucleotide variant Pathogenic rs104894695 GRCh37 Chromosome 19, 35775856: 35775856
2 HAMP NM_021175.3(HAMP): c.166C> T (p.Arg56Ter) single nucleotide variant Pathogenic rs104894695 GRCh38 Chromosome 19, 35284953: 35284953
3 HAMP HAMP, 1-BP DEL, 93G deletion Pathogenic
4 HAMP HAMP, +14G-A, 5-PRIME UTR single nucleotide variant Pathogenic
5 HAMP NM_021175.3(HAMP): c.92C> T (p.Thr31Met) single nucleotide variant Benign rs146776859 GRCh38 Chromosome 19, 35284790: 35284790
6 HAMP NM_021175.3(HAMP): c.92C> T (p.Thr31Met) single nucleotide variant Benign rs146776859 GRCh37 Chromosome 19, 35775693: 35775693

Expression for Hemochromatosis, Type 2b

Search GEO for disease gene expression data for Hemochromatosis, Type 2b.

Pathways for Hemochromatosis, Type 2b

GO Terms for Hemochromatosis, Type 2b

Sources for Hemochromatosis, Type 2b

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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