Details of Disease

General Information of Disease (ID: DISDG593)

Disease Name Hemochromatosis type 2A
Synonyms hemochromatosis, juvenile; hemochromatosis, type 2A; hemochromatosis, type 2; hemochromatosis type 2 caused by mutation in HJV; HJV hemochromatosis type 2; HFE2A; hemochromatosis type 2A
Definition Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HJV gene.
Disease Hierarchy
DISYM9UP: Hemochromatosis type 2
DISDG593: Hemochromatosis type 2A
Disease Identifiers
MONDO ID
MONDO_0011216
UMLS CUI
C1865614
OMIM ID
602390
MedGen ID
356321

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HJV OT4235J2 Definitive Autosomal recessive [1]
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References

1 Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. Blood. 2004 Jun 1;103(11):4317-21. doi: 10.1182/blood-2004-01-0192. Epub 2004 Feb 24.