CISS
MCID: CLD003
MIFTS: 34

Cold-Induced Sweating Syndrome (CISS) malady

Genetic diseases, Neuronal diseases, Rare diseases categories
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Summaries for Cold-Induced Sweating Syndrome

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Genetics Home Reference:21 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.

MalaCards based summary: Cold-Induced Sweating Syndrome, also known as cntf receptor-related disorders, is related to cold-induced sweating syndrome 1 and crisponi syndrome. An important gene associated with Cold-Induced Sweating Syndrome is CRLF1 (cytokine receptor-like factor 1), and among its related pathways are Physiological and Pathological Hypertrophy of the Heart and NFAT and Cardiac Hypertrophy. The compounds acth and lipid have been mentioned in the context of this disorder. Related mouse phenotypes are mortality/aging and nervous system.

Wikipedia:65 Cytokine receptor-like factor 1 is a protein that in humans is encoded by the CRLF1 gene. more...

Aliases & Classifications for Cold-Induced Sweating Syndrome

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Cold-Induced Sweating Syndrome, Aliases & Descriptions:

Name: Cold-Induced Sweating Syndrome 21 44
Cntf Receptor-Related Disorders 21 62
Sohar-Crisponi Syndrome 21 62
 
Crisponi Syndrome 21 62
Cold-Induced Sweating Syndrome 1 62
Ciss 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Related Diseases for Cold-Induced Sweating Syndrome

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Graphical network of the top 20 diseases related to Cold-Induced Sweating Syndrome:



Diseases related to cold-induced sweating syndrome

Symptoms for Cold-Induced Sweating Syndrome

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Drugs & Therapeutics for Cold-Induced Sweating Syndrome

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Drug clinical trials:

Search ClinicalTrials for Cold-Induced Sweating Syndrome

Search NIH Clinical Center for Cold-Induced Sweating Syndrome

Genetic Tests for Cold-Induced Sweating Syndrome

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Anatomical Context for Cold-Induced Sweating Syndrome

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Animal Models for Cold-Induced Sweating Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Cold-Induced Sweating Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.5LIFR, IL6ST, CNTFR, CRLF1, CLCF1
2MP:00036317.2CRLF1, CNTFR, IL6ST, LIFR, CLCF1

Publications for Cold-Induced Sweating Syndrome

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Articles related to Cold-Induced Sweating Syndrome:

(show all 12)
idTitleAuthorsYear
1
Multiple small hyperintense lesions in the subcortical white matter on cranial MR images in two Turkish brothers with cold-induced sweating syndrome caused by a novel missense mutation in the CRLF1 gene. (23026229)
2013
2
Cold induced sweating syndrome with urinary system anomaly association. (24073352)
2013
3
Cold-induced sweating syndrome type 1, with a CRLF1 level mutation, previously associated with Crisponi syndrome. (24008591)
2013
4
Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases. (20400119)
2010
5
Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation. (20186812)
2010
6
Central and peripheral autonomic failure in cold-induced sweating syndrome type 1. (20975058)
2010
7
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. (17436252)
2007
8
Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes. (17436251)
2007
9
Cold-induced sweating syndrome: a report of two cases and demonstration of genetic heterogeneity. (16952376)
2006
10
Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient. (16782820)
2006
11
Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene. (12509788)
2003
12
Cold-Induced Sweating Syndrome including Crisponi Syndrome (21370513)
1993

Variations for Cold-Induced Sweating Syndrome

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Clinvar genetic disease variations for Cold-Induced Sweating Syndrome:

6 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1CRLF1NM_004750.4(CRLF1): c.857_864delTGGTGGAC (p.Val286Glyfs)deletionPathogenicrs367543004GRCh37Chr 19, 18707592: 18707599
2CRLF1NM_004750.4(CRLF1): c.1121T> G (p.Leu374Arg)single nucleotide variantPathogenicrs104894668GRCh37Chr 19, 18705148: 18705148
3CRLF1NM_004750.4(CRLF1): c.397+1G> Asingle nucleotide variantPathogenicrs137853932GRCh37Chr 19, 18710374: 18710374
4CRLF1NM_004750.4(CRLF1): c.413C> T (p.Pro138Leu)single nucleotide variantPathogenicrs137853930GRCh37Chr 19, 18709696: 18709696
5CRLF1NM_004750.4(CRLF1): c.538C> T (p.Gln180Ter)single nucleotide variantPathogenicrs137853926GRCh37Chr 19, 18709401: 18709401
6CRLF1NM_004750.4(CRLF1): c.852G> T (p.Trp284Cys)single nucleotide variantPathogenicrs137853927GRCh37Chr 19, 18707705: 18707705
7CRLF1NM_004750.4(CRLF1): c.935G> A (p.Arg312His)single nucleotide variantPathogenicrs137853933GRCh37Chr 19, 18707521: 18707521
8CRLF1NM_004750.4(CRLF1): c.844_845delGT (p.Val282Glyfs)deletionPathogenicrs137853928GRCh37Chr 19, 18707712: 18707713
9CRLF1NM_004750.4(CRLF1): c.1121T> G (p.Leu374Arg)single nucleotide variantPathogenicrs104894668GRCh37Chr 19, 18705148: 18705148
10CRLF1NM_004750.4(CRLF1): c.226T> G (p.Trp76Gly)single nucleotide variantPathogenicrs137853143GRCh37Chr 19, 18710546: 18710546
11CRLF1NM_004750.4(CRLF1): c.1102A> T (p.Lys368Ter)single nucleotide variantPathogenicrs137853144GRCh37Chr 19, 18705167: 18705167
12CRLF1NM_004750.4(CRLF1): c.829C> T (p.Arg277Ter)single nucleotide variantPathogenicrs137853145GRCh37Chr 19, 18707728: 18707728

Expression for genes affiliated with Cold-Induced Sweating Syndrome

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Expression patterns in normal tissues for genes affiliated with Cold-Induced Sweating Syndrome

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Pathways for genes affiliated with Cold-Induced Sweating Syndrome

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Pathways related to Cold-Induced Sweating Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3IL6ST, LIFR
2
Show member pathways
9.3IL6ST, LIFR
3
Show member pathways
MAPK Cascade37
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway37
9.3IL6ST, LIFR
49.3LIFR, IL6ST
5
Show member pathways
8.5CNTFR, IL6ST, LIFR
68.5LIFR, IL6ST, CNTFR
7
Show member pathways
8.0CNTFR, IL6ST, LIFR, CLCF1
8
Show member pathways
Type III interferon signaling37
8.0CLCF1, LIFR, IL6ST, CNTFR
9
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events37
ErbB2/ErbB3 signaling events37
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
7.5CRLF1, CNTFR, IL6ST, LIFR, CLCF1

Compounds for genes affiliated with Cold-Induced Sweating Syndrome

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Compounds related to Cold-Induced Sweating Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1acth449.0IL6ST, LIFR
2lipid448.5CNTFR, IL6ST, LIFR
3gp 130447.9CNTFR, IL6ST, LIFR, CLCF1

GO Terms for genes affiliated with Cold-Induced Sweating Syndrome

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Cellular components related to Cold-Induced Sweating Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1CRLF-CLCF1 complexGO:0970589.2CRLF1, CLCF1
2CNTFR-CLCF1 complexGO:0970599.0CNTFR, CLCF1
3extracellular regionGO:0055768.8IL6ST, LIFR, CLCF1

Biological processes related to Cold-Induced Sweating Syndrome according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1oncostatin-M-mediated signaling pathwayGO:0381659.5IL6ST, LIFR
2leukemia inhibitory factor signaling pathwayGO:0488619.4LIFR, IL6ST
3positive regulation of astrocyte differentiationGO:0487119.4IL6ST, CLCF1
4cell surface receptor signaling pathwayGO:0071669.3LIFR, CLCF1
5positive regulation of tyrosine phosphorylation of Stat3 proteinGO:0425179.2CRLF1, IL6ST, CLCF1
6response to cytokineGO:0340979.0IL6ST, LIFR
7negative regulation of neuron apoptotic processGO:0435248.7CRLF1, CNTFR, CLCF1
8ciliary neurotrophic factor-mediated signaling pathwayGO:0701208.7CNTFR, IL6ST, LIFR
9cytokine-mediated signaling pathwayGO:0192218.7CLCF1, LIFR, IL6ST
10positive regulation of cell proliferationGO:0082847.7CLCF1, LIFR, IL6ST, CNTFR, CRLF1

Molecular functions related to Cold-Induced Sweating Syndrome according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1leukemia inhibitory factor receptor activityGO:0049239.4IL6ST, LIFR
2oncostatin-M receptor activityGO:0049249.4LIFR, IL6ST
3growth factor bindingGO:0198389.2IL6ST, LIFR
4cytokine activityGO:0051259.2CRLF1, CLCF1
5cytokine bindingGO:0199559.2CRLF1, CNTFR
6receptor bindingGO:0051029.1CNTFR, CLCF1
7ciliary neurotrophic factor receptor activityGO:0048978.7LIFR, IL6ST, CNTFR
8ciliary neurotrophic factor receptor bindingGO:0051278.5CRLF1, IL6ST, LIFR, CLCF1

Products for genes affiliated with Cold-Induced Sweating Syndrome

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Sources for Cold-Induced Sweating Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet