MCID: CLD003
MIFTS: 37

Cold-Induced Sweating Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases categories

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, 65UMLS, 36MeSH, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all 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 65 36
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


Classifications:



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


External Ids:

Disease Ontology10 DOID:0060294
MeSH36 C536214
Orphanet51 157820, 1545
ICD10 via Orphanet28 G90.8
MESH via Orphanet37 C536214
UMLS via Orphanet66 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 full cheeks, long philtrum and anteverted nares. An important gene associated with Cold-Induced Sweating Syndrome is CRLF1 (Cytokine Receptor-Like Factor 1), and among its related pathways are and Adipogenesis. Affiliated tissues include lung, and related mouse phenotypes are behavior/neurological and nervous system.

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

HPO human phenotypes related to Cold-Induced Sweating Syndrome:

(show all 19)
id Description Frequency HPO Source Accession
1 full cheeks hallmark (90%) HP:0000293
2 long philtrum hallmark (90%) HP:0000343
3 anteverted nares hallmark (90%) HP:0000463
4 hypohidrosis hallmark (90%) HP:0000966
5 hyperhidrosis hallmark (90%) HP:0000975
6 hypertonia hallmark (90%) HP:0001276
7 sudden cardiac death hallmark (90%) HP:0001645
8 malignant hyperthermia hallmark (90%) HP:0002047
9 respiratory insufficiency hallmark (90%) HP:0002093
10 scoliosis hallmark (90%) HP:0002650
11 kyphosis hallmark (90%) HP:0002808
12 camptodactyly of finger hallmark (90%) HP:0100490
13 large face hallmark (90%) HP:0100729
14 abnormality of the palate typical (50%) HP:0000174
15 limitation of joint mobility typical (50%) HP:0001376
16 cognitive impairment typical (50%) HP:0100543
17 narrow mouth occasional (7.5%) HP:0000160
18 micrognathia occasional (7.5%) HP:0000347
19 seizures occasional (7.5%) HP:0001250

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 Syndrome24

Anatomical Context for Cold-Induced Sweating Syndrome

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

33
Lung

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:00053868.1CLCF1, CNTF, CNTFR, CRLF1
2MP:00036317.5CLCF1, CNTF, CNTFR, CRLF1, LIFR

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
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

Variations for Cold-Induced Sweating Syndrome

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Clinvar genetic disease variations for Cold-Induced Sweating Syndrome:

5 (show all 26)
id Gene Variation Type Significance SNP ID Assembly Location
1CRLF1NM_004750.4(CRLF1): c.857_864delTGGTGGAC (p.Val286Glyfs)deletionPathogenicrs367543004GRCh37Chr 19, 18707592: 18707599
2CRLF1NM_004750.4(CRLF1): c.1121T> G (p.Leu374Arg)single nucleotide variantPathogenicrs104894668GRCh37Chr 19, 18705148: 18705148
3CRLF1NM_004750.4(CRLF1): c.303delC (p.Asn102Thrfs)deletionPathogenicrs137853931GRCh37Chr 19, 18710469: 18710469
4CRLF1NM_004750.4(CRLF1): c.31_53del23 (p.Gln11Valfs)deletionPathogenicrs137853929GRCh37Chr 19, 18717414: 18717436
5CRLF1NM_004750.4(CRLF1): c.397+1G> Asingle nucleotide variantPathogenicrs137853932GRCh37Chr 19, 18710374: 18710374
6CRLF1NM_004750.4(CRLF1): c.413C> T (p.Pro138Leu)single nucleotide variantPathogenicrs137853930GRCh37Chr 19, 18709696: 18709696
7CRLF1NM_004750.4(CRLF1): c.538C> T (p.Gln180Ter)single nucleotide variantPathogenicrs137853926GRCh37Chr 19, 18709401: 18709401
8CRLF1NM_004750.4(CRLF1): c.852G> T (p.Trp284Cys)single nucleotide variantPathogenicrs137853927GRCh37Chr 19, 18707705: 18707705
9CRLF1NM_004750.4(CRLF1): c.935G> A (p.Arg312His)single nucleotide variantPathogenicrs137853933GRCh37Chr 19, 18707521: 18707521
10NM_013246.2(CLCF1): c.46T> C (p.Cys16Arg)single nucleotide variantPathogenicrs137853934GRCh37Chr 11, 67135068: 67135068
11NM_013246.2(CLCF1): c.676T> C (p.Ter226Arg)single nucleotide variantPathogenicrs137853935GRCh37Chr 11, 67132609: 67132609
12CRLF1NM_004750.4(CRLF1): c.713dupC (p.Pro239Alafs)duplicationPathogenicGRCh38Chr 19, 18597034: 18597034
13NM_013246.2(CLCF1): c.321C> A (p.Tyr107Ter)single nucleotide variantPathogenicrs104894198GRCh37Chr 11, 67132964: 67132964
14NM_013246.2(CLCF1): c.590G> T (p.Arg197Leu)single nucleotide variantPathogenicrs104894203GRCh37Chr 11, 67132695: 67132695
15CRLF1NM_004750.4(CRLF1): c.242G> A (p.Arg81His)single nucleotide variantPathogenicrs104894670GRCh37Chr 19, 18710530: 18710530
16CLCF1CLCF1, CYS16ARGundetermined variantPathogenic
17CLCF1CLCF1, 676T-Csingle nucleotide variantPathogenic
18CRLF1NM_004750.4(CRLF1): c.844_845delGT (p.Val282Glyfs)deletionPathogenicrs137853928GRCh37Chr 19, 18707712: 18707713
19CRLF1NM_004750.4(CRLF1): c.242G> A (p.Arg81His)single nucleotide variantPathogenicrs104894670GRCh37Chr 19, 18710530: 18710530
20CRLF1CRLF1, 1-BP INS, 676AinsertionPathogenic
21CRLF1NM_004750.4(CRLF1): c.226T> G (p.Trp76Gly)single nucleotide variantPathogenicrs137853143GRCh37Chr 19, 18710546: 18710546
22CRLF1CRLF1, 527+5G-Asingle nucleotide variantPathogenic
23CRLF1CRLF1, 1-BP DUP, 713CduplicationPathogenic
24CRLF1NM_004750.4(CRLF1): c.1102A> T (p.Lys368Ter)single nucleotide variantPathogenicrs137853144GRCh37Chr 19, 18705167: 18705167
25CRLF1CRLF1, 2-BP DEL/1-BP INS, NT708indelPathogenic
26CRLF1NM_004750.4(CRLF1): c.829C> T (p.Arg277Ter)single nucleotide variantPathogenicrs137853145GRCh37Chr 19, 18707728: 18707728

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 pathways (with members indented)ScoreTop Affiliating Genes
1
Notch signaling pathway (KEGG)
Show member pathways
9.3
29.0CNTFR, LIFR
3
Show member pathways
8.5CNTF, CNTFR, LIFR
4
Show member pathways
8.5CNTF, CNTFR, LIFR
5
Show member pathways
8.0CLCF1, CNTF, CNTFR, LIFR
6
Show member pathways
7.5CLCF1, CNTF, CNTFR, CRLF1, LIFR

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
1CNTFR-CLCF1 complexGO:00970599.0CLCF1, CNTFR
2CRLF-CLCF1 complexGO:00970589.0CLCF1, CNTF, CRLF1

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of tyrosine phosphorylation of Stat3 proteinGO:00425179.2CLCF1, CNTF, CRLF1
2ciliary neurotrophic factor-mediated signaling pathwayGO:00701208.9CNTF, CNTFR, LIFR
3cytokine-mediated signaling pathwayGO:00192218.5CLCF1, CNTFR, LIFR
4negative regulation of neuron apoptotic processGO:00435248.4CLCF1, CNTF, CNTFR, CRLF1
5positive regulation of cell proliferationGO:00082847.4CLCF1, CNTF, CNTFR, CRLF1, LIFR

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:00051259.8CLCF1, CRLF1
2growth factor activityGO:00080839.5CLCF1, CNTF
3ciliary neurotrophic factor receptor activityGO:00048979.4CNTFR, LIFR
4cytokine receptor activityGO:00048969.4CNTFR, LIFR
5cytokine bindingGO:00199558.8CNTFR, CRLF1, LIFR
6protein heterodimerization activityGO:00469828.7CLCF1, CRLF1, LIFR
7ciliary neurotrophic factor receptor bindingGO:00051278.5CLCF1, CNTF, CRLF1, LIFR

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