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Familial cold autoinflammatory syndrome 1
- ... nephropathy with urticaria AND deafness Genetic Testing Registry: Familial cold autoinflammatory syndrome 1 Cryopyrin-associated periodic syndrome National Organization for Rare ...
- ... 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 ...
- 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 ...