MCID: CLD003
MIFTS: 38

Cold-Induced Sweating Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Cold-Induced Sweating Syndrome

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Sources:
10Disease Ontology, 11diseasecard, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 45NIH Rare Diseases, 36MeSH, 65UMLS, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Cold-Induced Sweating Syndrome:

Name: Cold-Induced Sweating Syndrome 10 11 23 47 12 51 24
Crisponi Syndrome 10 45 23 47 51 36 65
Sohar-Crisponi Syndrome 10 23
 
Ciss 23 51
Muscle Contractions, Tetanoform, with Characteristic Face, Camptodactyly, Hyperthermia, and Sudden Death 45
Cntf Receptor-Related Disorders 23

Characteristics:

Orphanet epidemiological data:

51
cold-induced sweating syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood
crisponi syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal

Classifications:



External Ids:

Disease Ontology10 DOID:0060294
MeSH36 C536214
Orphanet51 157820, 1545
SNOMED-CT59 702363009
ICD10 via Orphanet28 G90.8
MESH via Orphanet37 C536214
UMLS via Orphanet66 C1832409
UMLS65 C1832409

Summaries for Cold-Induced Sweating Syndrome

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Genetics Home Reference:23 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, and has symptoms including large face, broad cheeks/cherub-like/cherubin face and broad nose/nasal bridge. An important gene associated with Cold-Induced Sweating Syndrome is CRLF1 (Cytokine Receptor Like Factor 1), and among its related pathways are Adipogenesis and Notch signaling pathway (KEGG). Affiliated tissues include lung, eye and brain, and related mouse phenotypes are nervous system and behavior/neurological.

Disease Ontology:10 An autosomal dominant disease characterized by problems with regulating body temperature and other abnormalities affecting many parts of the body; caused by mutations in the CRLF1 gene.

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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Symptoms:

 51 (show all 24)
  • large face
  • broad cheeks/cherub-like/cherubin face
  • broad nose/nasal bridge
  • anteverted nares/nostrils
  • long philtrum
  • kyphosis
  • scoliosis
  • camptodactyly of some fingers
  • hyperhidrosis/increased sweating
  • hypohidrosis/decreased sweating/thermoregulation disorder/heat intolerance
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • hypertonia/spasticity/rigidity/stiffness
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • autosomal recessive inheritance
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • death in infancy
  • malignant hyperthermia
  • high vaulted/narrow palate
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • restricted joint mobility/joint stiffness/ankylosis
  • micrognathia/retrognathia/micrognathism/retrognathism
  • microstomia/little mouth
  • seizures/epilepsy/absences/spasms/status epilepticus

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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Anatomical Context for Cold-Induced Sweating Syndrome

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MalaCards organs/tissues related to Cold-Induced Sweating Syndrome:

33
Lung, Eye, Brain, Heart, T cells, Skin

Animal Models for Cold-Induced Sweating Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Cold-Induced Sweating Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.1CLCF1, CNTF, CNTFR, CRLF1, LIFR, SORL1
2MP:00053866.8CLCF1, CNTF, CNTFR, CRLF1, LIFR, SORL1

Publications for Cold-Induced Sweating Syndrome

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Articles related to Cold-Induced Sweating Syndrome:

(show all 14)
idTitleAuthorsYear
1
Warmth and Nociceptive Evoked Potentials in Cold-induced Sweating Syndrome type 1. (26565815)
2015
2
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
3
Cold induced sweating syndrome with urinary system anomaly association. (24073352)
2013
4
Cold-induced sweating syndrome type 1, with a CRLF1 level mutation, previously associated with Crisponi syndrome. (24008591)
2013
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
14

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

idSuper pathwaysScoreTop Affiliating Genes
19.3CNTFR, LIFR
2
Show member pathways
9.1CNTF, CNTFR
3
Show member pathways
8.5CNTF, CNTFR, LIFR
4
Show member pathways
8.5CNTF, CNTFR, LIFR
5
Show member pathways
8.1CLCF1, CNTF, CNTFR, LIFR
6
Show member pathways
7.6CLCF1, CNTF, CNTFR, CRLF1, LIFR
7
Show member pathways
7.6CLCF1, CNTF, CNTFR, CRLF1, LIFR
8
Show member pathways
7.6CLCF1, CNTF, CNTFR, CRLF1, LIFR

GO Terms for genes affiliated with Cold-Induced Sweating Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of neuron apoptotic processGO:00435249.1CNTF, CNTFR

Sources for Cold-Induced Sweating Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet