Details of Disease

General Information of Disease (ID: DISSVMUD)

Disease Name Cold-induced sweating syndrome
Synonyms CISS; Sohar-Crisponi syndrome
Definition Cold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature.
Disease Hierarchy
DIS4NQD9: Cold-induced sweating syndrome - hyperthermia spectrum
DISSVMUD: Cold-induced sweating syndrome
Disease Identifiers
MONDO ID
MONDO_0015526
MESH ID
C536214
UMLS CUI
C1832409
MedGen ID
321950
Orphanet ID
157820
SNOMED CT ID
702363009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CLCF1 TTI6V13 Supportive Autosomal recessive [1]
CRLF1 TT6YF5K Supportive Autosomal recessive [2]
CRLF1 TT6YF5K moderate Biomarker [3]
CLCF1 TTI6V13 Strong GermlineCausalMutation [4]
CNTFR TTT2F9E Definitive Genetic Variation [5]
------------------------------------------------------------------------------------
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CLCF1 OTHQUDDI Supportive Autosomal recessive [1]
CRLF1 OT55PXIN Supportive Autosomal recessive [2]
KLHL7 OT2OF1O8 Supportive Autosomal recessive [6]
------------------------------------------------------------------------------------

References

1 Use of azathioprine in nine children with Crohn's disease. Va Med Q. 1991 Summer;118(3):169-70.
2 Cold-Induced Sweating Syndrome Including Crisponi Syndrome. 2011 Mar 3 [updated 2021 Aug 12]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.
3 Bi-allelic c.181_183delTGT in BTB domain of KLHL7 is associated with overlapping phenotypes of Crisponi/CISS1-like and Bohring-Opitz like syndrome.Eur J Med Genet. 2019 Jun;62(6):103528. doi: 10.1016/j.ejmg.2018.08.009. Epub 2018 Aug 22.
4 Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases. J Neurol Sci. 2010 Jun 15;293(1-2):68-75. doi: 10.1016/j.jns.2010.02.028. Epub 2010 Apr 18.
5 Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.Am J Hum Genet. 2007 May;80(5):966-70. doi: 10.1086/513608. Epub 2007 Mar 13.
6 Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. Am J Hum Genet. 2016 Jul 7;99(1):236-45. doi: 10.1016/j.ajhg.2016.05.026.