Details of Disease | DrugMAP

General Information of Disease (ID: DISHHGUD)

Disease Name	Cold-induced sweating syndrome 2
Synonyms	CRISPONI/cold-induced sweating syndrome 2; Crisponi/cold-induced sweating syndrome 2; CISS2; cold-induced sweating syndrome type 2; cold-induced sweating syndrome 2; cold-induced sweating syndrome caused by mutation in CLCF1; CLCF1 cold-induced sweating syndrome
Definition	Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the CLCF1 gene.
Disease Hierarchy	DISSVMUD: Cold-induced sweating syndrome DISHHGUD: Cold-induced sweating syndrome 2
Disease Identifiers	MONDO ID MONDO_0012467 UMLS CUI C1853198 OMIM ID 610313 MedGen ID 342816

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CLCF1	TTI6V13	Strong	Autosomal recessive	[1]
CLCF1	TTI6V13	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CLCF1	OTHQUDDI	Strong	Autosomal recessive	[1]
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References

1	Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient. Proc Natl Acad Sci U S A. 2006 Jun 27;103(26):10068-73. doi: 10.1073/pnas.0509598103. Epub 2006 Jun 16.