Cold-induced Sweating 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: Cold-induced Sweating Syndrome, also known as crisponi syndrome, is related to congenital myasthenic syndrome and plasmacytoma. An important gene associated with Cold-induced Sweating Syndrome is CLCF1 (cardiotrophin-like cytokine factor 1), and among its related pathways are Immune response_Oncostatin M signaling via JAK-Stat in human cells and Immune response_Oncostatin M signaling via MAPK in human cells. The compound gp 130 have been mentioned in the context of this disorder. Related mouse phenotypes are mortality/aging and nervous system.

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

OMIM: 272430

cold-induced sweating syndrome 7 17 33 32 crisponi syndrome 17 43 cold-induced sweating syndrome 1 43

cntf receptor-related disorders 17 sohar-crisponi syndrome 17 ciss 17

Diseases related to cold-induced sweating syndrome by text searches and GeneDecks gene sharing:

(show all 15)

id	Related Disease	Score	Top Affiliating Genes
1	congenital myasthenic syndrome	12.3	IL6ST, CNTFR
2	plasmacytoma	12.3	IL6ST, LIFR
3	status epilepticus	12.2	LIFR, IL6ST
4	prolactinoma	12.2	IL6ST, LIFR
5	eating disorder	12.0	CNTFR, LIFR
6	myasthenia gravis	12.0	IL6ST, CNTFR
7	cblc	11.7	CNTFR, LIFR, IL6ST
8	myeloma	11.3	CNTFR, LIFR, IL6ST, CLCF1
9	retinitis	11.2	IL6ST, CNTFR, LIFR, CLCF1
10	leukemia	10.7	CNTFR, LIFR, CLCF1, IL6ST, CRLF1
11	neuronitis	10.4	CRLF1, IL6ST, CNTFR, LIFR, CLCF1
12	cold-induced sweating syndrome including crisponi syndrome	10.0
13	clcf1-related cold-induced sweating syndrome including crisponi syndrome	9.8
14	crlf1-related cold-induced sweating syndrome including crisponi syndrome	9.8
15	crisponi syndrome	9.2

Clinical features from OMIM: 272430

Approved drugs:

Drug clinical trials:

MGI Mouse Phenotypes related to cold-induced sweating syndrome:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	mortality/aging	MP:0010768	7.5	IL6ST, CLCF1, LIFR, CNTFR, CRLF1
2	nervous system phenotype	MP:0003631	7.2	CNTFR, LIFR, CLCF1, IL6ST, CRLF1

Articles related to cold-induced sweating 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	Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes. (17436251)	Dagoneau N.... Cormier-Daire V.	2007	IL6ST, LIFR, CNTFR
3	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
4	Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient. (16782820)	Rousseau F.... Boman H.	2006	CNTFR, CLCF1
5	Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene. (12509788)	Knappskog P.M.... Boman H.	2003	CRLF1

Genes related to cold-induced sweating syndrome according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	CLCF1	cardiotrophin-like cytokine factor 1	11.1	Publications, Summaries
2	CRLF1	cytokine receptor-like factor 1	11.1	Summaries, Publications
3	CNTFR	ciliary neurotrophic factor receptor	11.1	Publications
4	LIFR	leukemia inhibitory factor receptor alpha	11.0	Publications
5	IL6ST	interleukin 6 signal transducer (gp130, oncostatin M receptor)	11.0	Publications

Pathways related to cold-induced sweating syndrome according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Immune response_Oncostatin M signaling via JAK-Stat in human cells41	9.1	IL6ST, LIFR
2	Immune response_Oncostatin M signaling via MAPK in human cells41	9.1	LIFR, IL6ST
3	Immune response Oncostatin M signaling via JAK-Stat in human cells10	9.0	IL6ST, LIFR
4	Immune response Oncostatin M signaling via MAPK in human cells10	8.8	LIFR, IL6ST
5	CNTF Signaling36	8.6	IL6ST, LIFR, CNTFR
6	Jak-STAT signaling pathway20	8.2	CNTFR, LIFR, CLCF1, IL6ST
7	Cytokine-cytokine receptor interaction20	8.1	CNTFR, LIFR, CLCF1, IL6ST
8	Development CNTF receptor signaling10	7.7	CNTFR, CRLF1, IL6ST, CLCF1, LIFR
9	Development_CNTF receptor signaling41	7.7	CRLF1, IL6ST, CLCF1, LIFR, CNTFR

Compounds related to cold-induced sweating syndrome according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	gp 13032	8.1	CNTFR, LIFR, CLCF1, IL6ST

Cellular components related to cold-induced sweating syndrome according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	CRLF-CLCF1 complex	GO:097058	9.5	CLCF1, CRLF1
2	CNTFR-CLCF1 complex	GO:097059	9.1	CNTFR, CLCF1

Biological processes related to cold-induced sweating syndrome according to GeneDecks:

(show all 12)

id	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of astrocyte differentiation	GO:048711	9.6	CLCF1, IL6ST
2	JAK-STAT cascade	GO:007259	9.5	IL6ST, CLCF1
3	oncostatin-M-mediated signaling pathway	GO:038165	9.3	LIFR, IL6ST
4	leukemia inhibitory factor signaling pathway	GO:048861	9.3	LIFR, IL6ST
5	positive regulation of tyrosine phosphorylation of Stat3 protein	GO:042517	9.2	CRLF1, IL6ST, CLCF1
6	cell surface receptor signaling pathway	GO:007166	9.2	LIFR, CLCF1
7	positive regulation of anti-apoptosis	GO:045768	9.0	LIFR, IL6ST
8	negative regulation of neuron apoptotic process	GO:043524	9.0	CRLF1, CLCF1, CNTFR
9	response to cytokine stimulus	GO:034097	8.8	LIFR, IL6ST
10	ciliary neurotrophic factor-mediated signaling pathway	GO:070120	8.8	CNTFR, LIFR, IL6ST
11	cytokine-mediated signaling pathway	GO:019221	8.7	LIFR, CLCF1, IL6ST
12	positive regulation of cell proliferation	GO:008284	7.8	CNTFR, LIFR, CLCF1, IL6ST, CRLF1

Molecular functions related to cold-induced sweating syndrome according to GeneDecks:

(show all 7)

id	Name	GO ID	Score	Top Affiliating Genes
1	cytokine activity	GO:005125	9.5	CLCF1, CRLF1
2	leukemia inhibitory factor receptor activity	GO:004923	9.1	LIFR, IL6ST
3	oncostatin-M receptor activity	GO:004924	9.0	LIFR, IL6ST
4	growth factor binding	GO:019838	8.8	LIFR, IL6ST
5	ciliary neurotrophic factor receptor activity	GO:004897	8.6	CNTFR, LIFR, IL6ST
6	cytokine binding	GO:019955	8.6	CRLF1, LIFR, CNTFR
7	ciliary neurotrophic factor receptor binding	GO:005127	8.3	LIFR, CLCF1, IL6ST, CRLF1