Details of Disease | DrugMAP

General Information of Disease (ID: DISCVB63)

Disease Name	Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Synonyms	AIFEC; AUTOINFLAMMATION with infantile enterocolitis; Autoinflammation with Infantile Enterocolitis; autoinflammation with infantile enterocolitis; NLRC4-related infantile enterocolitis-autoinflammatory syndrome; NLRC4-related macrophage activation syndrome; NLRC4-related autoinflammatory syndrome with MAS; NLRC4-related autoinflammatory syndrome with macrophage activation syndrome; NLRC4-related MAS
Disease Hierarchy	DISS9RWQ: Hereditary periodic fever syndrome DISCVB63: Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Disease Identifiers	MONDO ID MONDO_0014472 UMLS CUI C4015067 OMIM ID 616050 MedGen ID 863504 Orphanet ID 436166 SNOMED CT ID 1197594000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NLRC4	OTAIA3NA	Definitive	Autosomal dominant	[1]
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References

1	Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. Nat Genet. 2014 Oct;46(10):1135-1139. doi: 10.1038/ng.3066. Epub 2014 Sep 14.