CISS
MCID: CLD003
MIFTS: 32

Cold-Induced Sweating Syndrome (CISS) malady

Neuronal diseases category

Summaries for Cold-Induced Sweating Syndrome

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21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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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:63 Cytokine receptor-like factor 1 is a protein that in humans is encoded by the CRLF1 gene. more...

Description from OMIM:46 272430,610313

Aliases & Classifications for Cold-Induced Sweating Syndrome

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21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
cold-induced sweating syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

cold-induced sweating syndrome 21 46 44 48
crisponi syndrome 21 60
ciss 21 48
cold-induced sweating syndrome 1 60
cntf receptor-related disorders 21
sohar-crisponi syndrome 21


External Ids:

ICD10 via Orphanet26 G90.8

Related Diseases for Cold-Induced Sweating Syndrome

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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

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46OMIM
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Clinical features from OMIM:

272430,610313

Clinical synopsis from OMIM:

272430

Drugs & Therapeutics for Cold-Induced Sweating Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

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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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36MGI
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MGI Mouse Phenotypes related to Cold-Induced Sweating Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036318.1IL6ST, CLCF1, CNTFR, LIFR, CRLF1

Publications for Cold-Induced Sweating Syndrome

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Genetic Variations for Cold-Induced Sweating Syndrome

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Cold-Induced Sweating Syndrome:

62
id Symbol AA change Variation ID SNP ID
1CRLF1p.Arg81HisVAR_017865
2CRLF1p.Leu374ArgVAR_017866
3CRLF1p.Trp76GlyVAR_033113

Expression for genes affiliated with Cold-Induced Sweating Syndrome

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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

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Sources:
12EMD Millipore, 37NCBI BioSystems Database, 53Reactome, 51QIAGEN, 29KEGG
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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)
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9.5IL6ST, LIFR
2
Immune response Oncostatin M signaling via JAK-Stat in human cells
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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
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8.1IL6ST, CLCF1, CNTFR, LIFR, CRLF1

Compounds for genes affiliated with Cold-Induced Sweating Syndrome

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44Novoseek
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Compounds related to Cold-Induced Sweating Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1gp 130448.5IL6ST, CLCF1, CNTFR, LIFR

GO Terms for genes affiliated with Cold-Induced Sweating Syndrome

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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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  • Antibodies
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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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet