Details of Disease | DrugMAP

General Information of Disease (ID: DISAUGYR)

Disease Name	Hemochromatosis type 5
Synonyms	iron overload, autosomal dominant; hemochromatosis, type 5; FTH1 hereditary hemochromatosis; hereditary hemochromatosis caused by mutation in FTH1; HFE5; FTH1-related iron overload; FTH1-associated iron overload
Definition	Any hereditary hemochromatosis in which the cause of the disease is a mutation in the FTH1 gene.\|Editor notes: ORDO treats this as two diseases
Disease Hierarchy	DISVG5MT: Hereditary hemochromatosis DISAUGYR: Hemochromatosis type 5
Disease Identifiers	MONDO ID MONDO_0014225 MESH ID C565020 UMLS CUI C1851316 OMIM ID 615517 MedGen ID 341982 Orphanet ID 247790 SNOMED CT ID 1230310007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BMP6	TT07RIB	Supportive	Autosomal dominant	[1]
FTH1	TT975ZT	Moderate	Autosomal dominant	[2]
FTH1	TT975ZT	moderate	GermlineCausalMutation	[3]
SLC40A1	TT6Y1PG	Definitive	Genetic Variation	[4]
------------------------------------------------------------------------------------

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BMP6	OT9WN536	Supportive	Autosomal dominant	[1]
FTH1	OT6IFS0O	Moderate	Autosomal dominant	[2]
------------------------------------------------------------------------------------

References

1	Heterozygous Mutations in BMP6 Pro-peptide Lead to Inappropriate Hepcidin Synthesis and Moderate Iron Overload in Humans. Gastroenterology. 2016 Mar;150(3):672-683.e4. doi: 10.1053/j.gastro.2015.10.049. Epub 2015 Nov 12.
2	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
3	A mutation, in the iron-responsive element of H ferritin mRNA, causing autosomal dominant iron overload. Am J Hum Genet. 2001 Jul;69(1):191-7. doi: 10.1086/321261. Epub 2001 May 24.
4	Characterization of three novel pathogenic SLC40A1 mutations and genotype/phenotype correlations in 7 Italian families with type 4 hereditary hemochromatosis.Biochim Biophys Acta Mol Basis Dis. 2018 Feb;1864(2):464-470. doi: 10.1016/j.bbadis.2017.11.006. Epub 2017 Nov 14.