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Cold-induced sweating syndrome

Orpha number ORPHA157820
Synonym(s) CISS
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Childhood
ICD-10
  • G90.8
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature. So far, six cases have been reported of Norwegian, Israeli and Canadian origin. Additional abnormalities may include kyphoscoliosis, a high-arched palate, a nasal voice, depressed nasal bridge, and impaired peripheral sensitivity to pain and temperature. CISS is an autosomal recessive disorder caused by mutations in the CRLF1 gene on chromosome 19p12 (CISS type 1). In one Australian man with no family history, the syndrome was associated with mutations in the CLCF1 gene on chromosome 11q13.3 (CISS type 2).


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Detailed information

Clinical genetics review
  • EN (2013)
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