Details of Disease | DrugMAP

General Information of Disease (ID: DISBN7VE)

Disease Name	Immunodeficiency 57
Synonyms	immunodeficiency 57 with autoinflammation; IMD57; IMMUNODEFICIENCY 57
Disease Hierarchy	DIS093I0: Immunodeficiency DISBN7VE: Immunodeficiency 57
Disease Identifiers	MONDO ID MONDO_0020849 UMLS CUI C4748212 OMIM ID 618108 MedGen ID 1648306

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
RIPK1	TTAIQSN	Strong	Autosomal recessive	[1]
RIPK1	TTVJHX8	Strong	Biomarker	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RIPK1	OTC41R1E	Strong	Autosomal recessive	[1]
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References

1	Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation. Science. 2018 Aug 24;361(6404):810-813. doi: 10.1126/science.aar2641. Epub 2018 Jul 19.