Details of Disease | DrugMAP

General Information of Disease (ID: DISL5J5L)

Disease Name	IL21-related infantile inflammatory bowel disease
Synonyms	IL21 deficiency; CVID11; immunodeficiency, common variable, 11; IL21-related infantile IBD; immunodeficiency, common variable, type 11
Disease Hierarchy	DISHE7JQ: Common variable immunodeficiency DISL5J5L: IL21-related infantile inflammatory bowel disease
Disease Identifiers	MONDO ID MONDO_0014338 UMLS CUI C5567788 OMIM ID 615767 MedGen ID 1799211 Orphanet ID 477661 SNOMED CT ID 1173999006

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
IL21	TT9QEJ6	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
IL21	OTABCY4W	Supportive	Autosomal recessive	[1]
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References

1	Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. N Engl J Med. 2009 Nov 19;361(21):2033-45. doi: 10.1056/NEJMoa0907206. Epub 2009 Nov 4.