Familial cold autoinflammatory syndrome 1

Preferred Label : Familial cold autoinflammatory syndrome 1;

Symbol : FCAS1;

CISMeF acronym : CAPS1; FCAS; FCAS1; FCU;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : FCAS; Cold urticaria, familial; FCU; Cold hypersensitivity; CAPS1; Cold-induced autoinflammatory syndrome, familial; Cryopyrin-associated periodic syndrome 1;

Description : Familial cold autoinflammatory syndrome is characterized clinically by recurrent attacks of a maculopapular rash associated with arthralgias, myalgias, fever and chills, and swelling of the extremities after exposure to cold. Despite the first description of 'cold urticaria' (Kile and Rusk, 1940) the rash in most patients is nonpruritic and nonurticarial. Rarely, some patients may also develop late-onset renal amyloidosis (Hoffman et al., 2000). Overlapping syndromes also caused by mutation in the NLRP3 gene include Muckle-Wells syndrome (CAPS2; 191900), which has a high frequency of amyloidosis and late-onset sensorineural deafness, and chronic neurologic cutaneous and articular syndrome (CINCA, CAPS3; 607115), which shows earlier onset and a more severe phenotype. - Genetic Heterogeneity of Familial Cold Autoinflammatory Syndrome See also FCAS2 (611762), caused by mutation in the NLRP12 gene (609648) on chromosome 19q13, and FCAS3 (614468), caused by mutation in the PLCG2 gene (600220) on chromosome 16q.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the NLR family, pyrin-domain containing 3 gene (NLRP3, 606416.0001);

Laboratory abnormalities : Polymorphonuclear leukocytosis, episodic; Increased serum C-reactive protein, episodic;

Prefixed ID : #120100;

Details

Origin ID

120100;

UMLS CUI

C4551895;

Automatic exact mappings (from CISMeF team)
- Freund's Adjuvant [NCIt concept]
- NLR family pyrin domain containing 3 [ORDO Gene]
- NLRP3 wt Allele [NCIt concept]
- cold hypersensitivity [MeSH concept]
- cold hypersensitivity [MeSH Supplementary Concept]
- vaginal smears [MeSH Descriptor]
Broader ORDO disease(s)
- Familial cold urticaria [ORDO Disease]
Currated CISMeF NLP mapping
- FCAS [MedDRA LLT]
- Familial Cold Autoinflammatory Syndrome [NCIt concept]
- Familial cold autoinflammatory syndrome [ICD-11 More detail]
- Familial cold autoinflammatory syndrome [MedDRA Preferred Term]
- Familial cold urticaria [ORDO Disease]
- Familial cold urticaria [PASCAL descriptor]
- Familial cold urticaria [MedDRA LLT]
- Familial cold urticaria (disorder) [SNOMED CT concept]
- familial cold autoinflammatory syndrome [MeSH concept]
- familial cold autoinflammatory syndrome 1 [DO Concept]
- familial cold urticaria [Disease (Nov.)]
DO Cross reference
- familial cold autoinflammatory syndrome 1 [DO Concept]
Genes related to phenotype
- Nlr family, pyrin domain-containing 3 [OMIM gene]
HPO term(s)
- Aphthous ulcer [HPO term]
- Arthralgia [HPO term]
- Arthritis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Chills [HPO term]
- Conjunctivitis [HPO term]
- Elevated circulating C-reactive protein concentration [HPO term]
- Fatigue [HPO term]
- Fever [HPO term]
- Headache [HPO term]
- Infantile onset [HPO term]
- Leukocytosis [HPO term]
- Myalgia [HPO term]
- Recurrent fever [HPO term]
- Renal amyloidosis [HPO term]
- Skin rash [HPO term]
- Urticaria [HPO term]
- Uveitis [HPO term]
Not associated HPO term(s)
- Hearing impairment [HPO term]
ORDO concept(s)
- Familial cold urticaria [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- FCAS [MedDRA LLT]
- Familial Cold Autoinflammatory Syndrome [NCIt concept]
- Familial cold autoinflammatory syndrome [MedDRA Preferred Term]
- Familial cold urticaria [ORDO Disease]
- Familial cold urticaria [MedDRA LLT]
- Familial cold urticaria [PASCAL descriptor]
- Familial cold urticaria (disorder) [SNOMED CT concept]
- familial cold autoinflammatory syndrome [MeSH concept]
- familial cold autoinflammatory syndrome [DO Concept]
- familial cold autoinflammatory syndrome 1 [DO Concept]
- familial cold urticaria [Disease (Nov.)]
Validated automatic mappings to NTBT
- cryopyrin-associated periodic syndromes [MeSH Descriptor]

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