MCID: CLD003
MIFTS: 31

Cold-Induced Sweating Syndrome

Categories: Rare diseases, Neuronal diseases, Genetic diseases

Aliases & Classifications for Cold-Induced Sweating Syndrome

MalaCards integrated aliases for Cold-Induced Sweating Syndrome:

Name: Cold-Induced Sweating Syndrome 12 25 56 29 13 52 14
Crisponi Syndrome 12 50 25 42 69
Sohar-Crisponi Syndrome 12 25
Ciss 25 56
Muscle Contractions, Tetanoform, with Characteristic Face, Camptodactyly, Hyperthermia, and Sudden Death 50
Cntf Receptor-Related Disorders 25

Characteristics:

Orphanet epidemiological data:

56
cold-induced sweating syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060294
MeSH 42 C536214
SNOMED-CT 64 702363009
Orphanet 56 ORPHA157820
ICD10 via Orphanet 34 G90.8
UMLS 69 C1832409

Summaries for Cold-Induced Sweating Syndrome

NIH Rare Diseases : 50 the following summary is from orphanet, a european reference portal for information on rare diseases and orphan drugs.orpha number: 1545disease definitioncrisponi syndrome (cs) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.epidemiologysince the first description of the disease in 1996, it has been described in less than 30 patients from 13 italian (mainly sardinian) families.clinical descriptionextensive paroxysmal muscular contractions in the face (resembling neonatal tetanus) develop after minimal stimuli. frequent contractions of the oropharyngeal muscles associated with absence of the swallowing reflex lead to major feeding and respiratory difficulties. all patients described to date displayed facial anomalies, including a large face, chubby cheeks, a broad nose with anteverted nostrils and long philtrum, and bilateral camptodactyly. hypertonia is frequent. early in the neonatal period, cs patients develop continuous hyperthermia (unrelated to infectious agents), dyspnea, spells of apnea, and cyanosis during crying. abnormal central control of respiration may be present at birth, increasing the risk of sudden death. febrile episodes disappear after the first year of life, whereas feeding difficulties persist. paradoxal sweating after exposure to low ambient temperatures has been observed in some adolescents.etiologymutations in the crlf1 gene are causative.differential diagnosiscs belongs to a group of conditions with overlapping features, including cold-induced sweating syndromes and stüve-wiedemann syndrome (see these terms).genetic counselingthe disease is transmitted as an autosomal recessivetrait.management and treatmentsurviving patients usually develop severe progressive kyphoscoliosis that requires corset therapy or corrective surgery. marked feeding difficulties require nasogastric tube feeding.prognosischaracteristic hyperthermic crises frequently lead to death within the first months of life.visit the orphanet disease page for more resources. last updated: 6/10/2008

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 3. An important gene associated with Cold-Induced Sweating Syndrome is CRLF1 (Cytokine Receptor Like Factor 1), and among its related pathways/superpathways are Cytokine Signaling in Immune system and Regulation of lipid metabolism Insulin signaling-generic cascades. Related phenotype is nervous system.

Disease Ontology : 12 An autosomal dominant disease characterized by problems with regulating body temperature and other abnormalities affecting many parts of the body. It has material basis in mutations in the CRLF1 gene.

Genetics Home Reference : 25 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.

Related Diseases for Cold-Induced Sweating Syndrome

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



Diseases related to Cold-Induced Sweating Syndrome

Symptoms & Phenotypes for Cold-Induced Sweating Syndrome

MGI Mouse Phenotypes related to Cold-Induced Sweating Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.1 CLCF1 CNTF CNTFR CRLF1 LIFR SORL1

Drugs & Therapeutics for Cold-Induced Sweating Syndrome

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

Cochrane evidence based reviews: crisponi syndrome

Genetic Tests for Cold-Induced Sweating Syndrome

Genetic tests related to Cold-Induced Sweating Syndrome:

id Genetic test Affiliating Genes
1 Cold-Induced Sweating Syndrome 29

Anatomical Context for Cold-Induced Sweating Syndrome

Publications for Cold-Induced Sweating Syndrome

Articles related to Cold-Induced Sweating Syndrome:

(show all 13)
id Title Authors Year
1
Warmth and Nociceptive Evoked Potentials in Cold-induced Sweating Syndrome type 1. ( 26565815 )
2015
2
Cold-induced sweating syndrome type 1, with a CRLF1 level mutation, previously associated with Crisponi syndrome. ( 24008591 )
2013
3
Cold induced sweating syndrome with urinary system anomaly association. ( 24073352 )
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
Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation. ( 20186812 )
2010
6
Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases. ( 20400119 )
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
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: a report of two cases and demonstration of genetic heterogeneity. ( 16952376 )
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

Expression for Cold-Induced Sweating Syndrome

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

Pathways for Cold-Induced Sweating Syndrome

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.77 CLCF1 CNTF CNTFR CRLF1 LIFR
2
Show member pathways
12.13 CLCF1 CNTF CNTFR CRLF1 LIFR
3
Show member pathways
11.83 CNTF CNTFR LIFR
4
Show member pathways
11.57 CNTF CNTFR LIFR
5
Show member pathways
10.78 CLCF1 CNTF CNTFR CRLF1 LIFR

GO Terms for Cold-Induced Sweating Syndrome

Cellular components related to Cold-Induced Sweating Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.65 CLCF1 CNTF CRLF1 LIFR SORL1
2 extracellular space GO:0005615 9.55 CLCF1 CNTF CRLF1 LIFR SORL1
3 CNTFR-CLCF1 complex GO:0097059 8.96 CLCF1 CNTFR
4 CRLF-CLCF1 complex GO:0097058 8.8 CLCF1 CNTF CRLF1

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

id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.55 CLCF1 CNTF CNTFR CRLF1 LIFR
2 cytokine-mediated signaling pathway GO:0019221 9.5 CLCF1 CNTFR LIFR
3 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.43 CLCF1 CNTF CRLF1
4 negative regulation of neuron apoptotic process GO:0043524 9.26 CLCF1 CNTF CNTFR CRLF1
5 ciliary neurotrophic factor-mediated signaling pathway GO:0070120 8.8 CNTF CNTFR LIFR

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

id Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.43 CLCF1 CNTF CRLF1
2 cytokine binding GO:0019955 9.16 CNTFR CRLF1
3 cytokine receptor activity GO:0004896 9.02 CNTFR
4 ciliary neurotrophic factor receptor activity GO:0004897 8.96 CNTFR LIFR
5 ciliary neurotrophic factor receptor binding GO:0005127 8.92 CLCF1 CNTF CRLF1 LIFR

Sources for Cold-Induced Sweating Syndrome

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10 dbSNP
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16 ExPASy
18 FMA
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65 SNOMED-CT via HPO
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67 TGDB
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70 UMLS via Orphanet
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