Details of Disease | DrugMAP

General Information of Disease (ID: DISGS7X3)

Disease Name	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DISNGCMN: Inborn error of immunity DISGS7X3: Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
Disease Identifiers	MONDO ID MONDO_0033968 UMLS CUI C5568533 MedGen ID 1799956 Orphanet ID 529977 SNOMED CT ID 1186654001

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
RIPK1	TTAIQSN	Supportive	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
RIPK1	OTC41R1E	Supportive	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.