CISS
MCID: CLD003
MIFTS: 32

Cold-Induced Sweating Syndrome (CISS)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Cold-Induced Sweating Syndrome

MalaCards integrated aliases for Cold-Induced Sweating Syndrome:

Name: Cold-Induced Sweating Syndrome 12 25 59 37 29 13 55 15
Crisponi Syndrome 12 25 44 73
Sohar-Crisponi Syndrome 12 25
Ciss 25 59
Cntf Receptor-Related Disorders 25
Sweating Syndrome, Cold-Induced 40

Characteristics:

Orphanet epidemiological data:

59
cold-induced sweating syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060294
MeSH 44 C536214
Orphanet 59 ORPHA157820
ICD10 via Orphanet 34 G90.8
KEGG 37 H00935
UMLS 73 C1832409

Summaries for Cold-Induced Sweating Syndrome

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.

MalaCards based summary : Cold-Induced Sweating Syndrome, also known as crisponi syndrome, is related to crisponi/cold-induced sweating syndrome 1 and crisponi/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-cytokine receptor interaction and JAK-STAT signaling pathway. Affiliated tissues include testes.

Disease Ontology : 12 A syndrome that is characterized by profuse sweating induced by cold ambient temperature.

Wikipedia : 76 Cytokine receptor-like factor 1 is a protein that in humans is encoded by the CRLF1... more...

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 29

Anatomical Context for Cold-Induced Sweating Syndrome

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

41
Testes

Publications for Cold-Induced Sweating Syndrome

Articles related to Cold-Induced Sweating Syndrome:

(show all 15)
# Title Authors Year
1
Autonomic Reflex Screen Test Abnormalities in Cold-Induced Sweating Syndrome Type 1. ( 29189552 )
2017
2
A new case series of Crisponi syndrome in a Turkish family and review of the literature. ( 27977424 )
2017
3
PERIOPERATIVE CARE OF A CHILD WITH CRISPONI SYNDROME. ( 27487643 )
2016
4
Warmth and Nociceptive Evoked Potentials in Cold-induced Sweating Syndrome type 1. ( 26565815 )
2015
5
Cold induced sweating syndrome with urinary system anomaly association. ( 24073352 )
2013
6
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
7
Cold-induced sweating syndrome type 1, with a CRLF1 level mutation, previously associated with Crisponi syndrome. ( 24008591 )
2013
8
Central and peripheral autonomic failure in cold-induced sweating syndrome type 1. ( 20975058 )
2010
9
Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases. ( 20400119 )
2010
10
Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation. ( 20186812 )
2010
11
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. ( 17436252 )
2007
12
Cold-induced sweating syndrome: a report of two cases and demonstration of genetic heterogeneity. ( 16952376 )
2006
13
Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient. ( 16782820 )
2006
14
Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene. ( 12509788 )
2003
15
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 KEGG:

37
# Name Kegg Source Accession
1 Cytokine-cytokine receptor interaction hsa04060
2 JAK-STAT signaling pathway hsa04630

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 external side of plasma membrane GO:0009897 9.5 CNTFR CRLF1 LIFR
2 receptor complex GO:0043235 9.33 CNTFR CRLF1 LIFR
3 Cul3-RING ubiquitin ligase complex GO:0031463 9.26 KLHL2 KLHL7
4 CNTFR-CLCF1 complex GO:0097059 8.96 CLCF1 CNTFR
5 CRLF-CLCF1 complex GO:0097058 8.62 CLCF1 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 9.65 CLCF1 CNTF CNTFR CRLF1 LIFR
2 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.5 CLCF1 CNTF CRLF1
3 negative regulation of neuron apoptotic process GO:0043524 9.46 CLCF1 CNTF CNTFR CRLF1
4 cytokine-mediated signaling pathway GO:0019221 9.35 CLCF1 CNTF CNTFR CRLF1 LIFR
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 9.5 CLCF1 CNTF CRLF1
2 cytokine binding GO:0019955 9.33 CNTFR CRLF1 LIFR
3 ciliary neurotrophic factor receptor activity GO:0004897 9.26 CNTFR LIFR
4 cytokine receptor activity GO:0004896 9.13 CNTFR CRLF1 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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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