Details of Disease

General Information of Disease (ID: DIS64BFY)

Disease Name Hemochromatosis type 3
Synonyms
hemochromatosis, type 3; hemochromatosis type 3; TFR2-related hemochromatosis; hemochromatosis due to defect in transferrin receptor 2; HFE3; TFR2 hereditary hemochromatosis; hereditary hemochromatosis caused by mutation in TFR2
Definition Type 3 hemochromatosis is a form of rare hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition of genetic origin.
Disease Hierarchy
DISVG5MT: Hereditary hemochromatosis
DIS64BFY: Hemochromatosis type 3
Disease Identifiers
MONDO ID
MONDO_0011417
MESH ID
C537248
UMLS CUI
C1858664
OMIM ID
604250
MedGen ID
388114
Orphanet ID
225123
SNOMED CT ID
719974003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HFE OTDD93KB Strong Biomarker [1]
TFR2 OTMYCCEO Definitive Autosomal recessive [2]
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References

1 Current approach to hemochromatosis.Blood Rev. 2008 Jul;22(4):195-210. doi: 10.1016/j.blre.2008.03.001. Epub 2008 Apr 21.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.