MCID: CLD003
MIFTS: 32

Cold-Induced Sweating Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Cold-Induced Sweating Syndrome

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Aliases & Descriptions for Cold-Induced Sweating Syndrome:

Name: Cold-Induced Sweating Syndrome 11 24 13 52 25 12 48
Crisponi Syndrome 11 46 24 37 66
Sohar-Crisponi Syndrome 11 24
 
Ciss 24 52
Muscle Contractions, Tetanoform, with Characteristic Face, Camptodactyly, Hyperthermia, and Sudden Death 46
Cntf Receptor-Related Disorders 24

Characteristics:

Orphanet epidemiological data:

52
cold-induced sweating syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Childhood; Age of death: normal life expectancy

Classifications:



External Ids:

Disease Ontology11 DOID:0060294
MeSH37 C536214
SNOMED-CT60 702363009
Orphanet52 ORPHA157820
ICD10 via Orphanet29 G90.8

Summaries for Cold-Induced Sweating Syndrome

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Genetics Home Reference:24 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 crisponi syndrome, is related to cold-induced sweating syndrome 1 and cold-induced sweating syndrome 2. An important gene associated with Cold-Induced Sweating Syndrome is CRLF1 (Cytokine Receptor Like Factor 1), and among its related pathways are Adipogenesis and CNTF Signaling. Related mouse phenotypes are behavior/neurological and nervous system.

Disease Ontology:11 An autosomal dominant disease characterized by difficulty in regulating body temperature, orofacial weakness with impaired sucking and swallowing, and facial anomalies such as flat nasal bridge, upturned nostrils, a long space between the nose and upper lip, a high arched roof of the mouth, a small chin, and low-set ears.

Related Diseases for Cold-Induced Sweating Syndrome

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Graphical network of 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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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Cold-Induced Sweating Syndrome


Cochrane evidence based reviews: crisponi syndrome

Genetic Tests for Cold-Induced Sweating Syndrome

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Genetic tests related to Cold-Induced Sweating Syndrome:

id Genetic test Affiliating Genes
1 Cold-Induced Sweating Syndrome25

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:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053867.2CLCF1, CNTF, CNTFR, CRLF1, LIFR, SORL1
2MP:00036316.9CLCF1, CNTF, CNTFR, CRLF1, LIFR, SORL1

Publications for Cold-Induced Sweating Syndrome

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Articles related to Cold-Induced Sweating Syndrome:

(show all 13)
idTitleAuthorsYear
1
Warmth and Nociceptive Evoked Potentials in Cold-induced Sweating Syndrome type 1. (26565815)
2015
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
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
5
Central and peripheral autonomic failure in cold-induced sweating syndrome type 1. (20975058)
2010
6
Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases. (20400119)
2010
7
Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation. (20186812)
2010
8
Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes. (17436251)
2007
9
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. (17436252)
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

Variations for Cold-Induced Sweating Syndrome

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Expression for genes affiliated with Cold-Induced Sweating Syndrome

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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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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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1CRLF-CLCF1 complexGO:00970589.1CLCF1, CNTF, CRLF1
2CNTFR-CLCF1 complexGO:00970598.9CLCF1, CNTFR

Biological processes related to Cold-Induced Sweating Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cytokine-mediated signaling pathwayGO:00192219.8CLCF1, LIFR
2positive regulation of tyrosine phosphorylation of Stat3 proteinGO:00425179.5CLCF1, CNTF, CRLF1
3ciliary neurotrophic factor-mediated signaling pathwayGO:00701209.0CNTF, CNTFR, LIFR
4negative regulation of neuron apoptotic processGO:00435247.9CLCF1, CNTF, CNTFR, CRLF1
5positive regulation of cell proliferationGO:00082847.7CLCF1, CNTF, CNTFR, CRLF1, LIFR

Molecular functions related to Cold-Induced Sweating Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ciliary neurotrophic factor receptor activityGO:00048979.5CNTFR, LIFR
2cytokine activityGO:00051259.3CLCF1, CNTF, CRLF1
3protein heterodimerization activityGO:00469829.2CLCF1, CRLF1, LIFR
4cytokine bindingGO:00199559.0CNTFR, CRLF1, LIFR
5ciliary neurotrophic factor receptor bindingGO:00051278.9CLCF1, CNTF, CRLF1, LIFR

Sources for Cold-Induced Sweating Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet