HFE2A
MCID: HMC021
MIFTS: 46
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Hemochromatosis, Type 2a (HFE2A)
Categories:
Cardiovascular diseases, Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Hemochromatosis, Type 2a:
Characteristics:HPO:32
hemochromatosis, type 2a:
Onset and clinical course young adult onset Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Anatomical: Liver diseases Skin diseases Cardiovascular diseases Endocrine diseases |
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. 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 (summary by Roetto et al., 1999).
(602390)
MalaCards based summary : Hemochromatosis, Type 2a, also known as hemochromatosis type 2a, is related to hemochromatosis, type 3 and hemochromatosis, type 4, and has symptoms including lethargy and weakness. An important gene associated with Hemochromatosis, Type 2a is HJV (Hemojuvelin BMP Co-Receptor), and among its related pathways/superpathways is Hfe effect on hepcidin production. Affiliated tissues include skin, heart and liver, and related phenotypes are arthritis and splenomegaly Disease Ontology : 12 A hemochromatosis type 2 that has material basis in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21. UniProtKB/Swiss-Prot : 75 Hemochromatosis 2A: 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. |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:602390Human phenotypes related to Hemochromatosis, Type 2a:32 (show all 16)
UMLS symptoms related to Hemochromatosis, Type 2a:lethargy, weakness |
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MalaCards organs/tissues related to Hemochromatosis, Type 2a:41
Skin,
Heart,
Liver,
Bone,
Kidney,
Thyroid,
T Cells
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Articles related to Hemochromatosis, Type 2a:(show top 50) (show all 51)
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UniProtKB/Swiss-Prot genetic disease variations for Hemochromatosis, Type 2a:75 (show all 14)
ClinVar genetic disease variations for Hemochromatosis, Type 2a:6 (show top 50) (show all 90)
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Search
GEO
for disease gene expression data for Hemochromatosis, Type 2a.
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Biological processes related to Hemochromatosis, Type 2a according to GeneCards Suite gene sharing:
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