cold-induced sweating syndrome

Etiology

 CISS1 (MIM.272430) at 19p12: mutations in the CRLF1 gene (12509788)
 CISS2 (MIM.610313) at 11q13.3: mutation in the CLCF1 gene (MIM.607672).

References

 Crisponi L, Crisponi G, Meloni A, Toliat MR, Nurnberg G, Usala G, Uda M, Masala M, Hohne W, Becker C, Marongiu M, Chiappe F, Kleta R, Rauch A, Wollnik B, Strasser F, Reese T, Jakobs C, Kurlemann G, Cao A, Nurnberg P, Rutsch F. Crisponi Syndrome Is Caused by Mutations in the CRLF1 Gene and Is Allelic to Cold-Induced Sweating Syndrome Type 1. Am J Hum Genet. 2007 May;80(5):971-81. PMID: 17436252

 Dagoneau N, Bellais S, Blanchet P, Sarda P, Al-Gazali LI, Di Rocco M, Huber C, Djouadi F, Le Goff C, Munnich A, Cormier-Daire V. Mutations in Cytokine Receptor-Like Factor 1 (CRLF1) Account for Both Crisponi and Cold-Induced Sweating Syndromes. Am J Hum Genet. 2007 May;80(5):966-70. PMID: 17436251