MCID: CLD003
MIFTS: 35

Cold-Induced Sweating Syndrome

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 54 26 60 38 30 13 56 15
Crisponi Syndrome 12 54 26 45 74
Sohar-Crisponi Syndrome 12 54 26
Ciss 54 26 60
Cntf Receptor-Related Disorders 54 26
Muscle Contractions, Tetanoform, with Characteristic Face, Camptodactyly, Hyperthermia, and Sudden Death 54
Sweating Syndrome, Cold-Induced 41

Characteristics:

Orphanet epidemiological data:

60
cold-induced sweating syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060294
KEGG 38 H00935
MeSH 45 C536214
ICD10 via Orphanet 35 G90.8
Orphanet 60 ORPHA157820
UMLS 74 C1832409

Summaries for Cold-Induced Sweating Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 157820Disease definitionCold-induced sweating syndrome (CISS) is characterized by profuse sweating (involving the chest, face, arms and trunk) induced by cold ambient temperature.EpidemiologySo far, six cases have been reported of Norwegian, Israeli and Canadian origin.Clinical descriptionAdditional abnormalities may include kyphoscoliosis, a high-arched palate, a nasal voice, depressed nasal bridge, and impaired peripheral sensitivity to pain and temperature.EtiologyCISS is caused by mutations in the CRLF1 gene on chromosome 19p12 (CISS type 1). In one Australian man with no family history, the syndrome was associated with mutations in the CLCF1 gene on chromosome 11q13.3 (CISS type 2).Genetic counselingCISS is an autosomal recessive disorder.Visit the Orphanet disease page for more resources.

MalaCards based summary : Cold-Induced Sweating Syndrome, also known as crisponi syndrome, is related to crisponi/cold-induced sweating syndrome 2 and crisponi/cold-induced sweating syndrome 1. 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, and related phenotypes are behavior/neurological and nervous system

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

Genetics Home Reference : 26 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.

Wikipedia : 77 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

MGI Mouse Phenotypes related to Cold-Induced Sweating Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.56 CLCF1 CNTF CNTFR CRLF1 MAGEL2 NALCN
2 nervous system MP:0003631 9.32 CLCF1 CNTF CNTFR CRLF1 FN1 LIFR

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 30

Anatomical Context for Cold-Induced Sweating Syndrome

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

42
Testes

Publications for Cold-Induced Sweating Syndrome

Articles related to Cold-Induced Sweating Syndrome:

(show all 25)
# Title Authors Year
1
Exome sequencing in Crisponi/CISS-like individuals reveals unpredicted alternative diagnoses. ( 30859550 )
2019
2
Autonomic Reflex Screen Test Abnormalities in Cold-Induced Sweating Syndrome Type 1. ( 29189552 )
2017
3
A new case series of Crisponi syndrome in a Turkish family and review of the literature. ( 27977424 )
2017
4
Warmth and nociceptive evoked potentials in cold-induced sweating syndrome type 1. ( 26565815 )
2016
5
PERIOPERATIVE CARE OF A CHILD WITH CRISPONI SYNDROME. ( 27487643 )
2016
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
Cold induced sweating syndrome with urinary system anomaly association. ( 24073352 )
2013
9
Crisponi syndrome: a new mutation in CRLF1 gene associated with moderate outcome. ( 24032286 )
2013
10
Isolated 'sign of the horns': a simple, pathognomonic, prenatal sonographic marker of Crisponi syndrome. ( 22381110 )
2012
11
Novel CRLF1 gene mutation in a newborn infant diagnosed with Crisponi syndrome. ( 23181498 )
2012
12
Homozygous mutation of CRLF-1 gene in a Turkish newborn with Crisponi syndrome. ( 21691203 )
2011
13
Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation. ( 20186812 )
2010
14
Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases. ( 20400119 )
2010
15
Central and peripheral autonomic failure in cold-induced sweating syndrome type 1. ( 20975058 )
2010
16
Successful treatment of cold-induced sweating in Crisponi syndrome and its possible mechanism of action. ( 20187881 )
2010
17
Crisponi syndrome in an Indian patient: a rare differential diagnosis for neonatal tetanus. ( 18837055 )
2008
18
Central apneas in a case of Crisponi syndrome. ( 17921063 )
2008
19
Crisponi syndrome: a new case with additional features and new mutation in CRLF1. ( 19012339 )
2008
20
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. ( 17436252 )
2007
21
Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient. ( 16782820 )
2006
22
Cold-induced sweating syndrome: a report of two cases and demonstration of genetic heterogeneity. ( 16952376 )
2006
23
Neonatal paroxysmal trismus and camptodactyly: the Crisponi syndrome. ( 15637710 )
2005
24
Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene. ( 12509788 )
2003
25
Crisponi syndrome: report of a further patient. ( 14598344 )
2003

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:

38
# 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 receptor complex GO:0043235 9.33 CNTFR CRLF1 LIFR
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 8.62 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 9.63 CLCF1 CNTF CNTFR CRLF1 FN1 LIFR
2 negative regulation of neuron apoptotic process GO:0043524 9.56 CLCF1 CNTF CNTFR CRLF1
3 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.5 CLCF1 CNTF CRLF1
4 cytokine-mediated signaling pathway GO:0019221 9.43 CLCF1 CNTF CNTFR CRLF1 FN1 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 9.54 CLCF1 CNTF CRLF1
2 cytokine binding GO:0019955 9.33 CNTFR CRLF1 LIFR
3 sodium channel activity GO:0005272 9.32 NALCN SCN2A
4 ciliary neurotrophic factor receptor activity GO:0004897 9.26 CNTFR LIFR
5 cytokine receptor activity GO:0004896 9.13 CNTFR CRLF1 LIFR
6 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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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