Hemochromatosis, type 2b

Preferred Label : Hemochromatosis, type 2b;

Symbol : HFE2B;

CISMeF acronym : HFE2B;

Type : Phenotype, molecular basis known;

Description : 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).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the hepcidin antimicrobial peptide gene (HAMP, 606464.0001);

Laboratory abnormalities : Increased or complete (100%) transferrin saturation; Increased serum ferritin; Increased transaminases; Increased serum iron;

Prefixed ID : #613313;

Details

Origin ID

613313;

UMLS CUI

C1865616;

Automatic exact mappings (from CISMeF team)
- HAMP wt Allele [NCIt concept]
- hepcidin antimicrobial peptide [ORDO Gene]
- hepcidin antimicrobial peptide [HGNC gene]
Currated CISMeF NLP mapping
- hemochromatosis type 2B [DO Concept]
- hemochromatosis, type 2B [MeSH concept]
- hemochromatosis, type 2B [MeSH Supplementary Concept]
DO Cross reference
- hemochromatosis type 2B [DO Concept]
Genes related to phenotype
- Hepcidin antimicrobial peptide [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cardiomyopathy [HPO term]
- Cirrhosis [HPO term]
- Congestive heart failure [HPO term]
- Elevated hepatic transaminase [HPO term]
- Elevated transferrin saturation [HPO term]
- Hepatic fibrosis [HPO term]
- Hepatomegaly [HPO term]
- Hyperpigmentation of the skin [HPO term]
- Hypogonadism [HPO term]
- Increased circulating ferritin concentration [HPO term]
- Increased serum iron [HPO term]
- Secondary amenorrhea [HPO term]
- Splenomegaly [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- Hemochromatosis type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hemochromatosis type 2B [DO Concept]
- hemochromatosis, type 2B [MeSH Supplementary Concept]
- hemochromatosis, type 2B [MeSH concept]

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