Details of Disease | DrugMAP

General Information of Disease (ID: DISAP2FR)

Disease Name	Heme oxygenase 1 deficiency
Synonyms	HMOX1D; heme oxygenase 1 deficiency; heme oxygenase-1 deficiency
Disease Hierarchy	DISZUIKC: Inborn disorder of porphyrin metabolism DISAP2FR: Heme oxygenase 1 deficiency
Disease Identifiers	MONDO ID MONDO_0013536 MESH ID C564200 UMLS CUI C1841651 OMIM ID 614034 MedGen ID 333882 Orphanet ID 562509 SNOMED CT ID 1230003009

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
HMOX1	TTI6V2A	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HMOX1	OTC1W6UX	Strong	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.