Details of Disease

General Information of Disease (ID: DISMMSP9)

Disease Name Cold-induced sweating syndrome 1
Synonyms
cold-induced sweating syndrome 1; Crisponi/cold-induced sweating syndrome 1; muscle contractions, Tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death; CISS1; Sohar-Crisponi syndrome; CRISPONI/cold-induced sweating syndrome 1; Crisponi syndrome; cold-induced sweating syndrome type 1
Definition Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.
Disease Hierarchy
DISSVMUD: Cold-induced sweating syndrome
DISMMSP9: Cold-induced sweating syndrome 1
Disease Identifiers
MONDO ID
MONDO_0010091
MESH ID
C536214
UMLS CUI
C1848947
OMIM ID
272430
MedGen ID
338577
Orphanet ID
1545

Molecular Interaction Atlas (MIA) of This Disease

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

1 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.
2 A new Turkish infant with clinical features of CS/CISS1 syndrome and homozygous CRLF1 mutation.Eur J Med Genet. 2014 Apr;57(5):212-5. doi: 10.1016/j.ejmg.2014.02.003. Epub 2014 Mar 5.
3 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
4 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.