Preferred Label : Hemochromatosis, type 2a;
Symbol : HFE2A;
CISMeF acronym : HFE2A; HFE2; JH;
Type : Phenotype, molecular basis known;
Included titles and symbols : Hemochromatosis, type 2; Hemochromatosis, juvenile; HFE2; JH;
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). The common complications of iron overload, including
liver cirrhosis, cardiac disease, endocrine failure, diabetes, arthropathy, and skin
pigmentation, are similar to those of adult-onset hereditary hemochromatosis, but
hypogonadism and cardiomyopathy are the most common symptoms at presentation. Heart
failure and/or major arrhythmias are usually the cause of death in the absence of
treatment. Early detection of the disorder is important because iron depletion by
phlebotomy can prevent organ damage and all disease manifestations. Hemochromatosis
type 2A (HFE2A) is caused by mutation in the hemojuvelin gene (HJV; 608374) on chromosome
1q21. - Genetic Heterogeneity of Hemochromatosis Type 2 Hemochromatosis type 2B (HFE2B;
613313) is caused by mutation in the hepcidin gene (HAMP; 606464) on chromosome 19q13.;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the hemojuvelin gene (HJV, 608374.0001);
Laboratory abnormalities : Increased serum ferritin; Increased transferrin saturation; Increased transaminase values; Increased serum iron;
Prefixed ID : #602390;
Origin ID : 602390;
UMLS CUI : C1865614;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
