Familial cold autoinflammatory syndrome 3

Preferred Label : Familial cold autoinflammatory syndrome 3;

Symbol : FCAS3;

CISMeF acronym : FACU; FCAS3; PLAID;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : FACU; Antibody deficiency and immune dysregulation, plcg2-associated; PLAID; Familial atypical cold urticaria;

Description : Familial cold autoinflammatory syndrome-2 is an autosomal dominant immune disorder characterized by the development of cutaneous urticaria, erythema, and pruritus in response to cold exposure. Affected individuals have variable additional immunologic defects, including antibody deficiency, decreased numbers of B cells, defective B cells, increased susceptibility to infection, and increased risk of autoimmune disorders (summary by Ombrello et al., 2012). For a discussion of genetic heterogeneity of FCAS, see FCAS1 (120100).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the phospholipase C, gamma-2 gene (PLCG2, 600220.0001);

Prefixed ID : #614468;

Détails

Origin ID

614468;

UMLS CUI

C3280914;

Automatic exact mappings (from CISMeF team)
- Advocate [NCIt concept]
- Advocating [ICNP action]
- PLCG2 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- PLCG2-associated antibody deficiency and immune dysregulation [ORDO Disease]
- Phospholipase C gamma 2 associated antibody deficiency and immune dysregulation (disorder) [SNOMED CT concept]
- familial cold autoinflammatory syndrome 3 [DO Concept]
DO Cross reference
- familial cold autoinflammatory syndrome 3 [DO Concept]
Genes related to phenotype
- Phospholipase C, gamma-2 [OMIM gene]
HPO term(s)
- Allergic rhinitis [HPO term]
- Allergy [HPO term]
- Angioedema [HPO term]
- Antinuclear antibody positivity [HPO term]
- Asthma [HPO term]
- Autosomal dominant inheritance [HPO term]
- Childhood onset [HPO term]
- Cold urticaria [HPO term]
- Dermatographic urticaria [HPO term]
- Erythema [HPO term]
- Hashimoto thyroiditis [HPO term]
- Infantile onset [HPO term]
- Onychomycosis [HPO term]
- Presyncope [HPO term]
- Pruritus [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent sinopulmonary infections [HPO term]
- Vitiligo [HPO term]
ORDO concept(s)
- PLCG2-associated antibody deficiency and immune dysregulation [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- familial cold autoinflammatory syndrome 3 [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients