Details of Disease | DrugMAP

General Information of Disease (ID: DIS41C6F)

Disease Name	Immunodeficiency, developmental delay, and hypohomocysteinemia
Synonyms	IMDDHH; immunodeficiency, developmental delay, and hypohomocysteinemia
Disease Hierarchy	DISYKSRF: Genetic disease DIS41C6F: Immunodeficiency, developmental delay, and hypohomocysteinemia
Disease Identifiers	MONDO ID MONDO_0060591 UMLS CUI C4540293 OMIM ID 617744 MedGen ID 1616061

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
NFE2L2	TTA6ZN2	Strong	Autosomal dominant	[1]
NFE2L2	TTA6ZN2	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NFE2L2	OT0HENJ5	Strong	Autosomal dominant	[1]
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References

1	Prevalence and architecture of de novo mutations in developmental disorders. Nature. 2017 Feb 23;542(7642):433-438. doi: 10.1038/nature21062. Epub 2017 Jan 25.
2	Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder. Nat Commun. 2017 Oct 10;8(1):818. doi: 10.1038/s41467-017-00932-7.