CISS
MCID: CLD003
MIFTS: 31

Cold-Induced Sweating Syndrome (CISS) malady

Neuronal category

Summaries for Cold-Induced Sweating Syndrome

Sources:
21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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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: Cold-Induced Sweating Syndrome, also known as crisponi syndrome, is related to crisponi syndrome and cold-induced sweating syndrome including crisponi syndrome. An important gene associated with Cold-Induced Sweating Syndrome is CRLF1 (cytokine receptor-like factor 1), and among its related pathways are G-protein signaling Ras family GTPases in kinase cascades (scheme) and Immune response Oncostatin M signaling via JAK-Stat in human cells. The compound gp 130 have been mentioned in the context of this disorder. Related mouse phenotype nervous system.

Wikipedia:64 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

Sources:
21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


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 61
ciss 21 49
cold-induced sweating syndrome 1 61
cntf receptor-related disorders 21
sohar-crisponi syndrome 21


External Ids:

ICD10 via Orphanet26 G60.8

Related Diseases for Cold-Induced Sweating Syndrome

Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Cold-Induced Sweating Syndrome:



Diseases related to cold-induced sweating syndrome

Clinical Features for Cold-Induced Sweating Syndrome

Sources:
47OMIM
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Clinical features from OMIM:

272430,610313

Clinical synopsis from OMIM:

272430

Drugs & Therapeutics for Cold-Induced Sweating Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Cold-Induced Sweating Syndrome

Drug clinical trials:

Search ClinicalTrials for Cold-Induced Sweating Syndrome

Search NIH Clinical Center for Cold-Induced Sweating Syndrome

Search CenterWatch for Cold-Induced Sweating Syndrome

Genetic Tests for Cold-Induced Sweating Syndrome

Anatomical Context for Cold-Induced Sweating Syndrome

Animal Models for Cold-Induced Sweating Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Cold-Induced Sweating Syndrome:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.1IL6ST, CLCF1, CNTFR, LIFR, CRLF1

Publications for Cold-Induced Sweating Syndrome

Sources:
51PubMed
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Articles related to Cold-Induced Sweating Syndrome:

(show all 13)
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
Successful treatment of cold-induced sweating in Crisponi syndrome and its possible mechanism of action. (20187881)
2010
5
Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases. (20400119)
2010
6
Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation. (20186812)
2010
7
Central and peripheral autonomic failure in cold-induced sweating syndrome type 1. (20975058)
2010
8
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. (17436252)
2007
9
Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes. (17436251)
2007
10
Cold-induced sweating syndrome: a report of two cases and demonstration of genetic heterogeneity. (16952376)
2006
11
Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient. (16782820)
2006
12
Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene. (12509788)
2003
13
Cold-Induced Sweating Syndrome including Crisponi Syndrome (21370513)
1993

Genetic Variations for Cold-Induced Sweating Syndrome

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Cold-Induced Sweating Syndrome:

63
id Symbol AA change Variation SNP ID
1CRLF1p.Arg81HisVAR_017865
2CRLF1p.Leu374ArgVAR_017866
3CRLF1p.Trp76GlyVAR_033113

Expression for genes affiliated with Cold-Induced Sweating Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Sources:
12EMD Millipore, 38NCBI BioSystems Database, 54Reactome, 52QIAGEN, 30KEGG
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Pathways related to Cold-Induced Sweating Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
G-protein signaling Ras family GTPases in kinase cascades (scheme)
Hide members
9.5IL6ST, LIFR
2
Immune response Oncostatin M signaling via JAK-Stat in human cells
Hide members
9.5IL6ST, LIFR
38.9IL6ST, CNTFR, LIFR
4
Hide members
8.9LIFR, CNTFR, IL6ST
58.5LIFR, CNTFR, CLCF1, IL6ST
6
Hide members
8.5LIFR, CNTFR, CLCF1, IL6ST
7
Translation Insulin regulation of translation
Hide members
8.1IL6ST, CLCF1, CNTFR, LIFR, CRLF1

Compounds for genes affiliated with Cold-Induced Sweating Syndrome

Sources:
45Novoseek
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Compounds related to Cold-Induced Sweating Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1gp 130458.5IL6ST, CLCF1, CNTFR, LIFR

GO Terms for genes affiliated with Cold-Induced Sweating Syndrome

Sources:
16Gene Ontology
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Cellular components related to Cold-Induced Sweating Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1CRLF-CLCF1 complexGO:0970589.7CLCF1, CRLF1
2CNTFR-CLCF1 complexGO:0970599.1CLCF1, CNTFR

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1oncostatin-M-mediated signaling pathwayGO:0381659.6LIFR, IL6ST
2leukemia inhibitory factor signaling pathwayGO:0488619.6IL6ST, LIFR
3response to cytokine stimulusGO:0340979.5IL6ST, LIFR
4positive regulation of astrocyte differentiationGO:0487119.4CLCF1, IL6ST
5positive regulation of tyrosine phosphorylation of Stat3 proteinGO:0425179.3IL6ST, CLCF1, CRLF1
6ciliary neurotrophic factor-mediated signaling pathwayGO:0701209.1IL6ST, CNTFR, LIFR
7negative regulation of neuron apoptotic processGO:0435249.1CLCF1, CNTFR, CRLF1
8cytokine-mediated signaling pathwayGO:0192218.8IL6ST, CLCF1, LIFR
9positive regulation of cell proliferationGO:0082848.3CRLF1, LIFR, CNTFR, CLCF1, IL6ST

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

idNameGO IDScoreTop Affiliating Genes
1leukemia inhibitory factor receptor activityGO:0049239.5LIFR, IL6ST
2growth factor bindingGO:0198389.5IL6ST, LIFR
3oncostatin-M receptor activityGO:0049249.4IL6ST, LIFR
4cytokine bindingGO:0199559.2CNTFR, CRLF1
5ciliary neurotrophic factor receptor activityGO:0048978.9IL6ST, CNTFR, LIFR
6ciliary neurotrophic factor receptor bindingGO:0051278.8IL6ST, CLCF1, LIFR, CRLF1

Products for genes affiliated with Cold-Induced Sweating Syndrome

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Sources for Cold-Induced Sweating Syndrome

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet