Details of Disease

General Information of Disease (ID: DIS7240J)

Disease Name Hemochromatosis type 4
Synonyms
hemochromatosis, autosomal dominant; hemochromatosis, type 4; ferroportin disease; hemochromatosis due to defect in ferroportin; Ferroportin Disease; HFE4; SLC40A1 hereditary hemochromatosis; autosomal dominant hereditary hemochromatosis; hereditary hemochromatosis caused by mutation in SLC40A1
Definition
A form of rare hemochromatosis (HC) characterized by increased transferrin saturation and hepatocellular iron deposition with distribution patterns and clinical features indistinguishable from patients with other types of HC.
Disease Hierarchy
DISVG5MT: Hereditary hemochromatosis
DIS7240J: Hemochromatosis type 4
Disease Identifiers
MONDO ID
MONDO_0011631
MESH ID
C537249
UMLS CUI
C1853733
OMIM ID
606069
MedGen ID
340044
Orphanet ID
139491
SNOMED CT ID
719975002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SLC40A1 TT6Y1PG Definitive Genetic Variation [1]
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This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC40A1 DTD3FHQ Definitive Autosomal recessive [2]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HFE OTDD93KB Limited Biomarker [3]
TFR2 OTMYCCEO Strong Genetic Variation [4]
SLC40A1 OT8RV2VY Definitive Autosomal recessive [2]
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References

1 Ferroportin disease mutations influence manganese accumulation and cytotoxicity.FASEB J. 2019 Feb;33(2):2228-2240. doi: 10.1096/fj.201800831R. Epub 2018 Sep 24.
2 A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet. 2001 Jul;28(3):213-4. doi: 10.1038/90038.
3 Current approach to hemochromatosis.Blood Rev. 2008 Jul;22(4):195-210. doi: 10.1016/j.blre.2008.03.001. Epub 2008 Apr 21.
4 Diagnostic evaluation of hereditary hemochromatosis (HFE and non-HFE).Hematol Oncol Clin North Am. 2014 Aug;28(4):625-35, v. doi: 10.1016/j.hoc.2014.04.006. Epub 2014 Jun 2.