KEGG   DISEASE: H00935Help
Entry
H00935                      Disease                                

Name
Cold-induced sweating syndrome (CISS) and Crisponi syndrome (CRISPS)
Description
Cold-induced sweating syndrome (CISS) and Crisponi syndrome (CRISPS) are inherited in an autosomal recessive manner. Mutations in CRLF1 account for about 90% and mutations in CLCF1 account for about 10% of CISS and CRISPS. CRISPS is characterized by congenital muscular contractions of facial muscles, with trismus in response to stimuli, dysmorphic features, bilateral camptodactyly, major feeding and respiratory difficulties, and access of hyperthermia leading to death in the first months of life. CISS is characterized by profuse sweating induced by cool surroundings.
Category
Developmental disorder
BRITE hierarchy
Pathway
Cytokine-cytokine receptor interaction
Jak-STAT signaling pathway
Gene
(CISS1/CRISPS) CRLF1 [HSA:9244]
(CISS2) CLCF1 [HSA:23529] [KO:K05421]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
Reference
  Authors
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
  Title
Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.
  Journal
Am J Hum Genet 80:966-70 (2007)
Reference
  Authors
Hahn AF, Boman H
  Title
Cold-Induced Sweating Syndrome including Crisponi Syndrome
  Journal
(1993)

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