MCID: CLD003
MIFTS: 32

Cold-Induced Sweating Syndrome

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Cold-Induced Sweating Syndrome

MalaCards integrated aliases for Cold-Induced Sweating Syndrome:

Name: Cold-Induced Sweating Syndrome 12 24 55 28 13 51 14
Crisponi Syndrome 12 24 41 69
Sohar-Crisponi Syndrome 12 24
Ciss 24 55
Cntf Receptor-Related Disorders 24

Characteristics:

Orphanet epidemiological data:

55
cold-induced sweating syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 55  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060294
MeSH 41 C536214
SNOMED-CT 64 702363009
Orphanet 55 ORPHA157820
ICD10 via Orphanet 33 G90.8
UMLS 69 C1832409

Summaries for Cold-Induced Sweating Syndrome

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/superpathways are Cytokine Signaling in Immune system and Regulation of lipid metabolism Insulin signaling-generic cascades. Affiliated tissues include testes.

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.

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

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:

# Genetic test Affiliating Genes
1 Cold-Induced Sweating Syndrome 28

Anatomical Context for Cold-Induced Sweating Syndrome

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

38
Testes

Publications for Cold-Induced Sweating Syndrome

Articles related to Cold-Induced Sweating Syndrome:

(show all 14)
# Title Authors Year
1
Autonomic Reflex Screen Test Abnormalities in Cold-Induced Sweating Syndrome Type 1. ( 29189552 )
2017
2
Warmth and Nociceptive Evoked Potentials in Cold-induced Sweating Syndrome type 1. ( 26565815 )
2015
3
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
4
Cold induced sweating syndrome with urinary system anomaly association. ( 24073352 )
2013
5
Cold-induced sweating syndrome type 1, with a CRLF1 level mutation, previously associated with Crisponi syndrome. ( 24008591 )
2013
6
Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation. ( 20186812 )
2010
7
Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases. ( 20400119 )
2010
8
Central and peripheral autonomic failure in cold-induced sweating syndrome type 1. ( 20975058 )
2010
9
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. ( 17436252 )
2007
10
Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes. ( 17436251 )
2007
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: a report of two cases and demonstration of genetic heterogeneity. ( 16952376 )
2006
13
Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene. ( 12509788 )
2003
14
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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.83 CLCF1 CNTF CNTFR CRLF1 LIFR
2
Show member pathways
12.13 CLCF1 CNTF CNTFR CRLF1 LIFR
3
Show member pathways
11.77 CNTF CNTFR LIFR
4
Show member pathways
11.71 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:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.55 CLCF1 CNTF CRLF1 LIFR SORL1
2 Cul3-RING ubiquitin ligase complex GO:0031463 9.26 KLHL2 KLHL7
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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.43 CLCF1 CNTF CRLF1
2 cytokine receptor activity GO:0004896 9.32 CNTFR LIFR
3 cytokine binding GO:0019955 9.16 CNTFR CRLF1
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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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