MCID: CLD003
MIFTS: 40

Cold-Induced Sweating Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases categories

Summaries for Cold-Induced Sweating Syndrome

About this section


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 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 CLCF1 (cardiotrophin-like cytokine factor 1), and among its related pathways are Physiological and Pathological Hypertrophy of the Heart and NFAT and Cardiac Hypertrophy. The compounds acth and lipid have been mentioned in the context of this disorder. Affiliated tissues include lung, and related mouse phenotypes are mortality/aging and nervous system.

Disease Ontology:9 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.

Aliases & Classifications for Cold-Induced Sweating Syndrome

About this section
Sources:
9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 33MeSH, 26ICD10 via Orphanet, 34MESH via Orphanet, 61UMLS via Orphanet
See all sources

Cold-Induced Sweating Syndrome, Aliases & Descriptions:

Name: Cold-Induced Sweating Syndrome 9 10 21 43 47 22
Crisponi Syndrome 9 41 21 43 47 60
Sohar-Crisponi Syndrome 9 21
 
Ciss 21 47
Muscle Contractions, Tetanoform, with Characteristic Face, Camptodactyly, Hyperthermia, and Sudden Death 41
Cntf Receptor-Related Disorders 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

47
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 Ontology9 DOID:0060294
MeSH33 C536214
Orphanet47 157820, 1545
ICD10 via Orphanet26 G90.8
MESH via Orphanet34 C536214
UMLS via Orphanet61 C1832409

Related Diseases for Cold-Induced Sweating Syndrome

About this section

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



Diseases related to cold-induced sweating syndrome

Symptoms for Cold-Induced Sweating Syndrome

About this section

Symptoms:

 47 (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

About this section

Drug clinical trials:

Search ClinicalTrials for Cold-Induced Sweating Syndrome

Search NIH Clinical Center for Cold-Induced Sweating Syndrome

Genetic Tests for Cold-Induced Sweating Syndrome

About this section

Genetic tests related to Cold-Induced Sweating Syndrome:

id Genetic test Affiliating Genes
1 Cold-Induced Sweating Syndrome22

Anatomical Context for Cold-Induced Sweating Syndrome

About this section

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

31
Lung

Animal Models for Cold-Induced Sweating Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Cold-Induced Sweating Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107687.5CLCF1, LIFR, IL6ST, CNTFR, CRLF1
2MP:00036317.2CLCF1, LIFR, IL6ST, CNTFR, CRLF1

Publications for Cold-Induced Sweating Syndrome

About this section

Articles related to Cold-Induced Sweating Syndrome:

(show all 12)
idTitleAuthorsYear
1
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
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
Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases. (20400119)
2010
5
Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation. (20186812)
2010
6
Central and peripheral autonomic failure in cold-induced sweating syndrome type 1. (20975058)
2010
7
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. (17436252)
2007
8
Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes. (17436251)
2007
9
Cold-induced sweating syndrome: a report of two cases and demonstration of genetic heterogeneity. (16952376)
2006
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 is caused by mutations in the CRLF1 gene. (12509788)
2003
12
Cold-Induced Sweating Syndrome including Crisponi Syndrome (21370513)
1993

Variations for Cold-Induced Sweating Syndrome

About this section

Clinvar genetic disease variations for Cold-Induced Sweating Syndrome:

6 (show all 25)
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_001166212.1(CLCF1): c.16T> C (p.Cys6Arg)single nucleotide variantPathogenicrs137853934GRCh37Chr 11, 67135068: 67135068
11NM_001166212.1(CLCF1): c.646T> C (p.Ter216Arg)single nucleotide variantPathogenicrs137853935GRCh37Chr 11, 67132609: 67132609
12NM_001166212.1(CLCF1): c.291C> A (p.Tyr97Ter)single nucleotide variantPathogenicrs104894198GRCh37Chr 11, 67132964: 67132964
13NM_001166212.1(CLCF1): c.560G> T (p.Arg187Leu)single nucleotide variantPathogenicrs104894203GRCh37Chr 11, 67132695: 67132695
14CRLF1NM_004750.4(CRLF1): c.242G> A (p.Arg81His)single nucleotide variantPathogenicrs104894670GRCh37Chr 19, 18710530: 18710530
15CLCF1CLCF1, CYS16ARGundetermined variantPathogenic
16CLCF1CLCF1, 676T-Csingle nucleotide variantPathogenic
17CRLF1NM_004750.4(CRLF1): c.844_845delGT (p.Val282Glyfs)deletionPathogenicrs137853928GRCh37Chr 19, 18707712: 18707713
18CRLF1NM_004750.4(CRLF1): c.242G> A (p.Arg81His)single nucleotide variantPathogenicrs104894670GRCh37Chr 19, 18710530: 18710530
19CRLF1CRLF1, 1-BP INS, 676AinsertionPathogenic
20CRLF1NM_004750.4(CRLF1): c.226T> G (p.Trp76Gly)single nucleotide variantPathogenicrs137853143GRCh37Chr 19, 18710546: 18710546
21CRLF1CRLF1, 527+5G-Asingle nucleotide variantPathogenic
22CRLF1CRLF1, 1-BP DUP, 713CduplicationPathogenic
23CRLF1NM_004750.4(CRLF1): c.1102A> T (p.Lys368Ter)single nucleotide variantPathogenicrs137853144GRCh37Chr 19, 18705167: 18705167
24CRLF1CRLF1, 2-BP DEL/1-BP INS, NT708indelPathogenic
25CRLF1NM_004750.4(CRLF1): c.829C> T (p.Arg277Ter)single nucleotide variantPathogenicrs137853145GRCh37Chr 19, 18707728: 18707728

Expression for genes affiliated with Cold-Induced Sweating Syndrome

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

Pathways for genes affiliated with Cold-Induced Sweating Syndrome

About this section

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3IL6ST, LIFR
2
Show member pathways
9.3IL6ST, LIFR
3
Show member pathways
MAPK Cascade36
Immune response Oncostatin M signaling via MAPK in human cells58
Oncostatin M Signaling Pathway36
9.3IL6ST, LIFR
49.3LIFR, IL6ST
5
Show member pathways
8.5CNTFR, IL6ST, LIFR
68.5LIFR, IL6ST, CNTFR
7
Show member pathways
8.1CNTFR, IL6ST, LIFR, CLCF1
8
Show member pathways
Type III interferon signaling36
8.1CLCF1, LIFR, IL6ST, CNTFR
9
Show member pathways
Transcription Receptor mediated HIF regulation58
Development CNTF receptor signaling58
Class IB PI3K non-lipid kinase events36
ErbB2/ErbB3 signaling events36
Development Growth hormone signaling via PI3K AKT and MAPK cascades58
Translation Regulation activity of EIF258
Regulation of lipid metabolism Insulin signaling generic cascades58
Transcription PPAR Pathway58
Cell adhesion PLAU signaling58
Translation Regulation activity of EIF4F58
7.5CRLF1, CNTFR, IL6ST, LIFR, CLCF1

Compounds for genes affiliated with Cold-Induced Sweating Syndrome

About this section
Sources:
43Novoseek
See all sources

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

idCompoundScoreTop Affiliating Genes
1acth439.0IL6ST, LIFR
2lipid438.5CNTFR, IL6ST, LIFR
3gp 130438.0CNTFR, IL6ST, LIFR, CLCF1

GO Terms for genes affiliated with Cold-Induced Sweating Syndrome

About this section

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

idNameGO IDScoreTop Affiliating Genes
1CRLF-CLCF1 complexGO:00970589.2CRLF1, CLCF1
2CNTFR-CLCF1 complexGO:00970599.1CNTFR, CLCF1
3extracellular regionGO:00055768.9IL6ST, LIFR, CLCF1

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of astrocyte differentiationGO:00487119.5IL6ST, CLCF1
2oncostatin-M-mediated signaling pathwayGO:00381659.5IL6ST, LIFR
3leukemia inhibitory factor signaling pathwayGO:00488619.4LIFR, IL6ST
4cell surface receptor signaling pathwayGO:00071669.4LIFR, CLCF1
5positive regulation of tyrosine phosphorylation of Stat3 proteinGO:00425179.2CRLF1, IL6ST, CLCF1
6response to cytokineGO:00340979.0IL6ST, LIFR
7cytokine-mediated signaling pathwayGO:00192218.8CLCF1, LIFR, IL6ST
8negative regulation of neuron apoptotic processGO:00435248.7CRLF1, CNTFR, CLCF1
9ciliary neurotrophic factor-mediated signaling pathwayGO:00701208.7CNTFR, IL6ST, LIFR
10positive regulation of cell proliferationGO:00082847.7CLCF1, LIFR, IL6ST, CNTFR, CRLF1

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1leukemia inhibitory factor receptor activityGO:00049239.4IL6ST, LIFR
2oncostatin-M receptor activityGO:00049249.4LIFR, IL6ST
3growth factor bindingGO:00198389.2IL6ST, LIFR
4cytokine activityGO:00051259.2CRLF1, CLCF1
5receptor bindingGO:00051029.2CNTFR, CLCF1
6cytokine bindingGO:00199559.1CRLF1, CNTFR
7ciliary neurotrophic factor receptor activityGO:00048978.7LIFR, IL6ST, CNTFR
8ciliary neurotrophic factor receptor bindingGO:00051278.5CRLF1, IL6ST, LIFR, CLCF1

Products for genes affiliated with Cold-Induced Sweating Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Cold-Induced Sweating Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet