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Results 1 - 5 of 5 for Familial cold autoinflammatory syndrome 1
  1. Cryopyrin-associated periodic syndromes 
    ... nephropathy with urticaria AND deafness Genetic Testing Registry: Familial cold autoinflammatory syndrome 1 Cryopyrin-associated periodic syndrome National Organization for Rare ...
    https://medlineplus.gov/.../cryopyrin-associated-periodic-syndromes - Genetics
  2. NLRP3 gene 
    ... joint pain. CAPS include three conditions known as familial cold autoinflammatory syndrome type 1 (FCAS1), Muckle-Wells syndrome (MWS), and neonatal-onset ...
    https://medlineplus.gov/genetics/gene/nlrp3 - Genetics
  3. NLRP12 gene 
    ... individuals with an NLRP12 gene variant may develop familial cold autoinflammatory syndrome type 2 but others with the mutation do not, which is a situation known as reduced penetrance. More About This Health Condition monarch 1 Monarch1 NACHT, leucine rich repeat and PYD containing ...
    https://medlineplus.gov/genetics/gene/nlrp12 - Genetics
  4. Familial cold autoinflammatory syndrome type 2 
    ... condition have been reported in the scientific literature. Familial cold autoinflammatory syndrome type 2 is caused by variants (also known as mutations) in the NLRP12 gene. The NLRP12 gene provides instructions for making the protein monarch-1. Monarch-1 belongs to a family of proteins ...
    https://medlineplus.gov/...ial-cold-autoinflammatory-syndrome-type-2 - Genetics
  5. Nakajo-Nishimura syndrome 
    Nakajo-Nishimura syndrome is an inherited condition that affects many parts of the body and has been described only in the Japanese population. Beginning in ...
    https://medlineplus.gov/genetics/condition/nakajo-nishimura-syndrome - Genetics