HFE2B
MCID: HMC019
MIFTS: 23

Hemochromatosis, Type 2b (HFE2B)

Categories: Cardiovascular diseases, Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hemochromatosis, Type 2b

MalaCards integrated aliases for Hemochromatosis, Type 2b:

Name: Hemochromatosis, Type 2b 58 13 41 74
Hemochromatosis Type 2b 12 30 6
Hfe2b 58 12 76
Hemochromatosis 2b 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset is usually before 30 years of age


HPO:

33
hemochromatosis, type 2b:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hemochromatosis, Type 2b

UniProtKB/Swiss-Prot : 76 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 splenomegaly and hepatomegaly

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

OMIM : 58 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

Human phenotypes related to Hemochromatosis, Type 2b:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 33 HP:0001744
2 hepatomegaly 33 HP:0002240
3 anemia 33 HP:0001903
4 congestive heart failure 33 HP:0001635
5 cirrhosis 33 HP:0001394
6 cardiomyopathy 33 HP:0001638
7 abnormality of iron homeostasis 33 HP:0011031
8 hypogonadism 33 HP:0000135
9 increased serum ferritin 33 HP:0003281
10 increased serum iron 33 HP:0003452
11 elevated hepatic transaminase 33 HP:0002910

Symptoms via clinical synopsis from OMIM:

58
Abdomen Spleen:
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

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 30 HAMP

Anatomical Context for Hemochromatosis, Type 2b

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

42
Skin, Heart

Publications for Hemochromatosis, Type 2b

Variations for Hemochromatosis, Type 2b

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

76
# 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 rs137425951
4 HAMP p.Cys78Tyr VAR_042514 rs146201347

ClinVar genetic disease variations for Hemochromatosis, Type 2b:

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

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 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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