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cold-induced sweating syndrome 2

Disease Summary
Associated Targets (2)
Tbio

2


Mondo Description Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the CLCF1 gene.
Uniprot Description An autosomal recessive disorder characterized by profuse sweating induced by cool surroundings (temperatures of 7 to 18 degrees Celsius). Patients manifest, in the neonatal period, orofacial weakness with impaired sucking and swallowing, resulting in poor feeding. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. These features are referred to as Crisponi syndrome and can result in early death in infancy. Patients who survive into childhood have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Additional abnormalities include a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend the elbows and kyphoscoliosis.
Mondo Term and Equivalent IDs
MONDO:0012467:  cold-induced sweating syndrome 2
MESH:C564791: 
UMLS:C1853198: