Crisponi Syndrome malady

Genetics Home Reference: Cold-induced sweating syndrome is characterized by problems with regulating body temperature and other abnormalities affecting many parts of the body. In infancy, the features of this condition are often known as Crisponi syndrome. Researchers originally thought that cold-induced sweating syndrome and Crisponi syndrome were separate disorders, but it is now widely believed that they represent the same condition at different times during life.¹⁷

MalaCards: Crisponi Syndrome, also known as muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death, is related to cold-induced sweating syndrome and cold-induced sweating syndrome including crisponi syndrome. An important gene associated with Crisponi Syndrome is CRLF1 (cytokine receptor-like factor 1).

Wikipedia: Cytokine receptor-like factor 1 is a protein that in humans is encoded by the CRLF1 gene.⁴⁴ more...

OMIM: 601378

crisponi syndrome 30 33 32 43 muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death 30

Diseases related to crisponi syndrome by text searches and GeneDecks gene sharing:

id	Related Disease	Score	Top Affiliating Genes
1	cold-induced sweating syndrome	8.8
2	cold-induced sweating syndrome including crisponi syndrome	8.6
3	clcf1-related cold-induced sweating syndrome including crisponi syndrome	7.7
4	crlf1-related cold-induced sweating syndrome including crisponi syndrome	7.7

Clinical features from OMIM: 601378

Approved drugs:

Drug clinical trials:

Articles related to crisponi syndrome:

id	Title	Authors	Year	Affiliating Genes
1	Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a C RLF1 mutation. (20186812)	Yamazaki M.... Fukushima Y.	2010	CRLF1
2	Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. (17436252)	Crisponi L.... Rutsch F.	2007	CRLF1

Genes related to crisponi syndrome according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	CRLF1	cytokine receptor-like factor 1	11.1	Disorders, Publications, Summaries