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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Familial cold autoinflammatory syndrome


Other Names for this Disease
  • Familial cold urticaria
  • Familial polymorphous cold eruption
  • FCAS
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Inheritance


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How is familial cold autoinflammatory syndrome inherited?

Familial cold autoinflammatory syndrome is inherited in an autosomal dominant manner.[1] This means that a mutation in only one of the two copies of the responsible gene is sufficient to cause signs and symptoms of the condition. When an individual with an autosomal dominant condition has children, each child has a 50% (1 in 2) risk to inherit the mutated copy of the gene. This also means that each child has a 50% risk to not inherit the mutated copy of the gene and therefore be unaffected.

There have been reported cases of this condition occurring in individuals with no history of the condition in the family; in these cases, the condition was not inherited from a parent, but occurred for the first time in the affected individual.[2]
Last updated: 11/1/2013

References
  1. Familial cold autoinflammatory syndrome. Genetics Home Reference. September 2008; http://ghr.nlm.nih.gov/condition/familial-cold-autoinflammatory-syndrome. Accessed 10/28/2013.
  2. Simon A, Van Der Meer S, Drenth J. Familial autoinflammatory syndromes. In: Harris et al.,. Harris: Kelley's Textbook of Rheumatology, 7th ed. Philadelphia, PA: Saunders; 2005;