Details of Disease | DrugMAP

General Information of Disease (ID: DISNPGTL)

Disease Name	Familial cold autoinflammatory syndrome 4
Synonyms	FCAS4; familial cold autoinflammatory syndrome type 4; familial cold autoinflammatory syndrome 4; familial cold autoinflammatory syndrome caused by mutation in NLRC4; NLRC4-related familial cold autoinflammatory syndrome; NLRC4 familial cold autoinflammatory syndrome
Definition	Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRC4 gene.
Disease Hierarchy	DISAPE70: Familial cold autoinflammatory syndrome DISNPGTL: Familial cold autoinflammatory syndrome 4
Disease Identifiers	MONDO ID MONDO_0014498 UMLS CUI C4015276 OMIM ID 616115 MedGen ID 863713 Orphanet ID 576349 SNOMED CT ID 1264006004

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	Strong	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	An inherited mutation in NLRC4 causes autoinflammation in human and mice. J Exp Med. 2014 Nov 17;211(12):2385-96. doi: 10.1084/jem.20141091. Epub 2014 Nov 10.