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Cold-induced sweating syndrome

Disease definition

Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature.

ORPHA:157820

Classification level: Disorder
  • Synonym(s):
    • CISS
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Adult
  • ICD-10: G90.8
  • OMIM: 272430  610313  617055
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Summary

Epidemiology

So far, six cases have been reported of Norwegian, Israeli and Canadian origin.

Clinical description

Additional abnormalities may include kyphoscoliosis, a high-arched palate, a nasal voice, depressed nasal bridge, and impaired peripheral sensitivity to pain and temperature.

Etiology

CISS is 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).

Genetic counseling

CISS is an autosomal recessive disorder.

- Last update: February 2009

Detailed information

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.