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GENATLAS PHENOTYPE
last update : 08-07-2010
Symbol CISS1
Location 19p13.11
Name cold-induced sweating syndrome 1
Corresponding gene CRLF1
Main clinical features
  • profuse sweating on the face, trunk, and upper limbs when cold with inability to sweat in hot weather; thermoregulatory sweat tests confirmed the paradoxical sweating response, associated with kyphoscoliosis, facial dysmorphy
  • profuse sweating in cold environmental temperature and craniofacial and skeletal features
    • Genetic determination autosomal recessive
    Function/system disorder congenital malformation
    dermatology
    Type disease
    Gene product
    Name cytokine receptor-like factor 1
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types     leading to an incapacity for CLCF1 to bind to CNTFRalpha and R197L substitution destabilized the contact site between CLCF1 and CNTFRalpha
    Remark(s)