Details of Disease

General Information of Disease (ID: DIS8YTYV)

• Disease Name: Familial cold autoinflammatory syndrome 3
• Synonyms: PLCG2-associated antibody deficiency and immune dysregulation; antibody deficiency and immune dysregulation, PLCG2-associated; FCAS3; familial cold autoinflammatory syndrome type 3; familial cold urticaria with common variable immunodeficiency; familial atypical cold urticaria; plaid; FACU; PLCG2 familial cold autoinflammatory syndrome; familial cold autoinflammatory syndrome 3; familial cold autoinflammatory syndrome caused by mutation in PLCG2
• Definition: A rare, hereditary, immune deficiency with skin involvement characterized by early-onset cold urticaria after generalized exposure to cold air or evaporative cooling and not after contact with cold objects. Additional immunologic abnormalities are often present - antibody deficiency, recurrent infections, autoimmune disease and symptomatic allergic disease.
• Disease Hierarchy:
  DISAPE70: Familial cold autoinflammatory syndrome
  DIS8YTYV: Familial cold autoinflammatory syndrome 3
• Disease Identifiers:
  MONDO ID: MONDO_0013766
  UMLS CUI: C3280914
  OMIM ID: 614468
  MedGen ID: 482544
  Orphanet ID: 300359

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PLCG2	OTGVC9MY	Strong	Autosomal dominant	[1]

References

• [1] Down's syndrome: a study of clinical features. J Natl Med Assoc. 1976 Nov;68(6):521-4.