HFE2B
MCID: HMC019
MIFTS: 35

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 57 13 39 70
Hemochromatosis Type 2b 12 29 6 15
Hfe2b 57 12 72
Hemochromatosis 2b 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset is usually before 30 years of age


HPO:

31
hemochromatosis, type 2b:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111032
OMIM® 57 613313
OMIM Phenotypic Series 57 PS235200
MeSH 44 D006432
MedGen 41 C1865616
UMLS 70 C1865616

Summaries for Hemochromatosis, Type 2b

UniProtKB/Swiss-Prot : 72 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, also known as hemochromatosis type 2b, is related to hyperferritinemia with or without cataract and iron metabolism disease. An important gene associated with Hemochromatosis, Type 2b is HAMP (Hepcidin Antimicrobial Peptide), and among its related pathways/superpathways are Cardiac conduction and Striated Muscle Contraction. Affiliated tissues include 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® : 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) (Updated 05-Apr-2021)

Related Diseases for Hemochromatosis, Type 2b

Graphical network of the top 20 diseases related to Hemochromatosis, Type 2b:



Diseases related to Hemochromatosis, Type 2b

Symptoms & Phenotypes for Hemochromatosis, Type 2b

Human phenotypes related to Hemochromatosis, Type 2b:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 hepatomegaly 31 HP:0002240
3 anemia 31 HP:0001903
4 congestive heart failure 31 HP:0001635
5 elevated hepatic transaminase 31 HP:0002910
6 cirrhosis 31 HP:0001394
7 abnormality of iron homeostasis 31 HP:0011031
8 cardiomyopathy 31 HP:0001638
9 hypogonadism 31 HP:0000135
10 increased serum iron 31 HP:0003452
11 increased circulating ferritin concentration 31 HP:0003281

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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:

40
Heart

Publications for Hemochromatosis, Type 2b

Articles related to Hemochromatosis, Type 2b:

# Title Authors PMID Year
1
Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. 6 57
12469120 2003
2
Severe hemochromatosis in a Portuguese family associated with a new mutation in the 5'-UTR of the HAMP gene. 6
15198949 2004
3
Genetic heterogeneity underlies juvenile hemochromatosis phenotype: analysis of three families of northern Greek origin. 57
12490283 2002
4
Natural history of juvenile haemochromatosis. 57
12060140 2002
5
Juvenile hemochromatosis locus maps to chromosome 1q. 57
10205270 1999
6
Juvenile and adult hemochromatosis are distinct genetic disorders. 57
9450181 1997

Variations for Hemochromatosis, Type 2b

ClinVar genetic disease variations for Hemochromatosis, Type 2b:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HAMP NM_021175.4(HAMP):c.95del (p.Gly32fs) Deletion Pathogenic 4283 rs1189025914 GRCh37: 19:35775694-35775694
GRCh38: 19:35284791-35284791
2 HAMP NM_021175.4(HAMP):c.166C>T (p.Arg56Ter) SNV Pathogenic 4284 rs104894695 GRCh37: 19:35775856-35775856
GRCh38: 19:35284953-35284953
3 HAMP HAMP, +14G-A, 5-PRIME UTR SNV Pathogenic 4287 GRCh37:
GRCh38:
4 HAMP NM_021175.4(HAMP):c.176G>C (p.Arg59Pro) SNV Pathogenic 917401 GRCh37: 19:35775866-35775866
GRCh38: 19:35284963-35284963
5 HAMP NM_021175.4(HAMP):c.92C>T (p.Thr31Met) SNV Uncertain significance 216876 rs146776859 GRCh37: 19:35775693-35775693
GRCh38: 19:35284790-35284790
6 HAMP NM_021175.4(HAMP):c.252G>A (p.Thr84=) SNV Uncertain significance 219770 rs150121265 GRCh37: 19:35775942-35775942
GRCh38: 19:35285039-35285039
7 HAMP NM_021175.4(HAMP):c.-1G>A SNV Uncertain significance 328836 rs149146279 GRCh37: 19:35773480-35773480
GRCh38: 19:35282577-35282577
8 HAMP NM_021175.4(HAMP):c.223C>G (p.Arg75Gly) SNV Uncertain significance 891880 GRCh37: 19:35775913-35775913
GRCh38: 19:35285010-35285010
9 HAMP NM_021175.4(HAMP):c.189C>T (p.Phe63=) SNV Uncertain significance 891879 GRCh37: 19:35775879-35775879
GRCh38: 19:35284976-35284976
10 HAMP NM_021175.4(HAMP):c.167G>A (p.Arg56Gln) SNV Uncertain significance 891878 GRCh37: 19:35775857-35775857
GRCh38: 19:35284954-35284954
11 HAMP NM_021175.4(HAMP):c.150+7G>A SNV Uncertain significance 414002 rs201587159 GRCh37: 19:35775758-35775758
GRCh38: 19:35284855-35284855
12 HAMP NM_021175.4(HAMP):c.212G>A (p.Gly71Asp) SNV Likely benign 4286 rs104894696 GRCh37: 19:35775902-35775902
GRCh38: 19:35284999-35284999

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

72
# 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

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

Cellular components related to Hemochromatosis, Type 2b according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myosin filament GO:0032982 8.96 MYBPC2 MYBPC1
2 troponin complex GO:0005861 8.62 TNNC2 TNNC1

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

# Name GO ID Score Top Affiliating Genes
1 cellular iron ion homeostasis GO:0006879 9.32 HAMP FTL
2 iron ion homeostasis GO:0055072 9.26 HAMP FTL
3 skeletal muscle contraction GO:0003009 9.16 TNNC2 TNNC1
4 regulation of muscle contraction GO:0006937 8.96 TNNC2 TNNC1
5 muscle filament sliding GO:0030049 8.92 TNNC2 TNNC1 MYBPC2 MYBPC1

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

# Name GO ID Score Top Affiliating Genes
1 calcium-dependent protein binding GO:0048306 9.26 TNNC2 TNNC1
2 structural constituent of muscle GO:0008307 9.16 MYBPC2 MYBPC1
3 actin filament binding GO:0051015 9.13 TNNC2 TNNC1 FHOD3
4 actin binding GO:0003779 8.92 TNNC2 MYBPC2 MYBPC1 FHOD3

Sources for Hemochromatosis, Type 2b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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