Details of Disease

General Information of Disease (ID: DISR35MD)

Disease Name Hemochromatosis type 2B
Synonyms hemochromatosis, type 2B; hemochromatosis type 2 caused by mutation in HAMP; HAMP hemochromatosis type 2; HFE2B
Definition Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HAMP gene.
Disease Hierarchy
DISYM9UP: Hemochromatosis type 2
DISR35MD: Hemochromatosis type 2B
Disease Identifiers
MONDO ID
MONDO_0013220
UMLS CUI
C1865616
OMIM ID
613313
MedGen ID
356040

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
HAMP TTRV5YJ Limited Biomarker [1]
HAMP TTPCG5T Definitive Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HAMP OT607RBL Definitive Autosomal recessive [2]
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References

1 Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.
2 Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet. 2003 Jan;33(1):21-2. doi: 10.1038/ng1053. Epub 2002 Dec 9.