CISS
MCID: CLD003
MIFTS: 41

Cold-Induced Sweating Syndrome (CISS) malady

Genetic diseases, Neuronal diseases, Rare diseases categories
Download this MalaCard

Summaries for Cold-Induced Sweating Syndrome

About this section
Sources:
21Genetics Home Reference, 65Wikipedia, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
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: Cold-Induced Sweating Syndrome, also known as crisponi syndrome, is related to crisponi syndrome and cold-induced sweating syndrome 1. 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...

Description from OMIM:47 272430,610313

Aliases & Classifications for Cold-Induced Sweating Syndrome

About this section
Sources:
21Genetics Home Reference, 49Orphanet, 62UMLS, 47OMIM, 45Novoseek, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
cold-induced sweating syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

cold-induced sweating syndrome 21 47 45 49
crisponi syndrome 21 62
ciss 21 49
cold-induced sweating syndrome 1 62
cntf receptor-related disorders 21
sohar-crisponi syndrome 21


External Ids:

ICD10 via Orphanet26 G90.8

Related Diseases for Cold-Induced Sweating Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section
Sources:
47OMIM
See all sources

Symptoms by clinical synopsis from OMIM:

272430

Clinical features from OMIM:

272430,610313

Drugs & Therapeutics for Cold-Induced Sweating Syndrome

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
See all sources

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

About this section

Anatomical Context for Cold-Induced Sweating Syndrome

About this section

Animal Models for Cold-Induced Sweating Syndrome or affiliated genes

About this section
Sources:
37MGI
See all sources

MGI Mouse Phenotypes related to Cold-Induced Sweating Syndrome:

37
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

About this section
Sources:
52PubMed
See all sources

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

About this section
Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
See all sources

UniProtKB/Swiss-Prot genetic disease variations for Cold-Induced Sweating Syndrome:

64 (show all 14)
id Symbol AA change Variation ID SNP ID
1CRLF1p.Arg81HisVAR_017865
2CRLF1p.Leu374ArgVAR_017866
3CRLF1p.Trp76GlyVAR_033113
4CRLF1p.Leu74ProVAR_070817
5CRLF1p.Tyr75AspVAR_070818
6CRLF1p.Asn113IleVAR_070819
7CRLF1p.Leu114ProVAR_070820
8CRLF1p.Pro138LeuVAR_070821
9CRLF1p.Ser145ProVAR_070822
10CRLF1p.Arg216CysVAR_070823
11CRLF1p.Phe268SerVAR_070824
12CRLF1p.Trp284CysVAR_070825
13CRLF1p.Arg312ProVAR_070826
14CRLF1p.Arg340CysVAR_070827

Clinvar genetic disease variations for Cold-Induced Sweating Syndrome:

1 (show all 19)
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.303delC (p.Asn102Thrfs)deletionPathogenicrs137853931GRCh37Chr 19, 18710469: 18710469
4CRLF1NM_004750.4(CRLF1): c.31_53del23 (p.Gln11Valfs)deletionPathogenicrs137853929GRCh37Chr 19, 18717414: 18717436
5CRLF1NM_004750.4(CRLF1): c.397+1G> Asingle nucleotide variantPathogenicrs137853932GRCh37Chr 19, 18710374: 18710374
6CRLF1NM_004750.4(CRLF1): c.413C> T (p.Pro138Leu)single nucleotide variantPathogenicrs137853930GRCh37Chr 19, 18709696: 18709696
7CRLF1NM_004750.4(CRLF1): c.538C> T (p.Gln180Ter)single nucleotide variantPathogenicrs137853926GRCh37Chr 19, 18709401: 18709401
8CRLF1NM_004750.4(CRLF1): c.852G> T (p.Trp284Cys)single nucleotide variantPathogenicrs137853927GRCh37Chr 19, 18707705: 18707705
9CRLF1NM_004750.4(CRLF1): c.935G> A (p.Arg312His)single nucleotide variantPathogenicrs137853933GRCh37Chr 19, 18707521: 18707521
10CRLF1NM_004750.4(CRLF1): c.242G> A (p.Arg81His)single nucleotide variantBenign, Pathogenicrs104894670GRCh37Chr 19, 18710530: 18710530
11CRLF1NM_004750.4(CRLF1): c.844_845delGT (p.Val282Glyfs)deletionPathogenicrs137853928GRCh37Chr 19, 18707712: 18707713
12CRLF1NM_004750.4(CRLF1): c.242G> A (p.Arg81His)single nucleotide variantBenign, Pathogenicrs104894670GRCh37Chr 19, 18710530: 18710530
13CRLF1CRLF1, 1-BP INS, 676AinsertionPathogenic
14CRLF1NM_004750.4(CRLF1): c.226T> G (p.Trp76Gly)single nucleotide variantPathogenicrs137853143GRCh37Chr 19, 18710546: 18710546
15CRLF1CRLF1, 527+5G-Asingle nucleotide variantPathogenic
16CRLF1CRLF1, 1-BP DUP, 713CduplicationPathogenic
17CRLF1NM_004750.4(CRLF1): c.1102A> T (p.Lys368Ter)single nucleotide variantPathogenicrs137853144GRCh37Chr 19, 18705167: 18705167
18CRLF1CRLF1, 2-BP DEL/1-BP INS, NT708indelPathogenic
19CRLF1NM_004750.4(CRLF1): c.829C> T (p.Arg277Ter)single nucleotide variantPathogenicrs137853145GRCh37Chr 19, 18707728: 18707728

Expression for genes affiliated with Cold-Induced Sweating Syndrome

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Cold-Induced Sweating Syndrome

Search GEO for disease gene expression data for Cold-Induced Sweating Syndrome.

Pathways for genes affiliated with Cold-Induced Sweating Syndrome

About this section
Sources:
50PathCards, 38NCBI BioSystems Database, 53QIAGEN, 60Thomson Reuters, 55Reactome, 30KEGG
See all sources

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 Cascade38
Immune response Oncostatin M signaling via MAPK in human cells60
Oncostatin M Signaling Pathway38
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 signaling38
8.0CLCF1, LIFR, IL6ST, CNTFR
9
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events38
ErbB2/ErbB3 signaling events38
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

About this section
Sources:
45Novoseek
See all sources

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

idCompoundScoreTop Affiliating Genes
1acth459.0IL6ST, LIFR
2lipid458.5CNTFR, IL6ST, LIFR
3gp 130457.9CNTFR, IL6ST, LIFR, CLCF1

GO Terms for genes affiliated with Cold-Induced Sweating Syndrome

About this section
Sources:
16Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cold-Induced Sweating Syndrome

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet