Details of Disease | DrugMAP

General Information of Disease (ID: DISZ2FY1)

Disease Name	Familial cold autoinflammatory syndrome 2
Synonyms	NLRP12 familial cold autoinflammatory syndrome; NLRP12-associated hereditary periodic fever syndrome; familial cold autoinflammatory syndrome type 2; FCAS2; familial cold autoinflammatory syndrome caused by mutation in NLRP12; familial cold autoinflammatory syndrome 2; NAPS12; NALP12-associated hereditary periodic fever syndrome
Definition	An autoinflammatory disease caused by mutations in the NLRP12 gene. It is characterized by periodic fevers beginning in the first year of life that are triggered by cold exposure. Episodes occur more than once per month.
Disease Hierarchy	DISAPE70: Familial cold autoinflammatory syndrome DISZ2FY1: Familial cold autoinflammatory syndrome 2
Disease Identifiers	MONDO ID MONDO_0012724 MESH ID C567090 UMLS CUI C2673198 OMIM ID 611762 MedGen ID 435869 Orphanet ID 247868 SNOMED CT ID 783146009

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
NLRP12	OTGR132Z	Strong	Autosomal dominant	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.