CISS
MCID: CLD003
MIFTS: 36

Cold-Induced Sweating Syndrome (CISS) malady

Categories: Rare diseases, Neuronal diseases, Genetic diseases

Aliases & Classifications for Cold-Induced Sweating Syndrome

Aliases & Descriptions for Cold-Induced Sweating Syndrome:

Name: Cold-Induced Sweating Syndrome 12 25 56 29 13 52 14
Crisponi Syndrome 12 50 25 56 42 69
Sohar-Crisponi Syndrome 12 25
Ciss 25 56
Muscle Contractions, Tetanoform, with Characteristic Face, Camptodactyly, Hyperthermia, and Sudden Death 50
Cntf Receptor-Related Disorders 25

Characteristics:

Orphanet epidemiological data:

56
cold-induced sweating syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Childhood; Age of death: normal life expectancy;
crisponi syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0060294
MeSH 42 C536214
SNOMED-CT 64 702363009
ICD10 via Orphanet 34 G90.8
MESH via Orphanet 43 C536214
UMLS via Orphanet 70 C1832409
UMLS 69 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 cold-induced sweating syndrome 1 and cold-induced sweating syndrome 2, and has symptoms including seizures, high palate and hyperhidrosis. 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. Related phenotypes are behavior/neurological and nervous system

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

Human phenotypes related to Cold-Induced Sweating Syndrome:

56 (show all 23)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 56 Occasional (29-5%)
2 high palate 56 Frequent (79-30%)
3 hyperhidrosis 56 Very frequent (99-80%)
4 sudden cardiac death 56 Very frequent (99-80%)
5 respiratory insufficiency 56 Very frequent (99-80%)
6 scoliosis 56 Very frequent (99-80%)
7 kyphosis 56 Very frequent (99-80%)
8 large face 56 Very frequent (99-80%)
9 anteverted nares 56 Very frequent (99-80%)
10 hypertonia 56 Very frequent (99-80%)
11 flexion contracture 56 Very frequent (99-80%)
12 cognitive impairment 56 Frequent (79-30%)
13 full cheeks 56 Very frequent (99-80%)
14 long philtrum 56 Very frequent (99-80%)
15 micrognathia 56 Occasional (29-5%)
16 feeding difficulties 56 Very frequent (99-80%)
17 death in infancy 56 Very frequent (99-80%)
18 limitation of joint mobility 56 Frequent (79-30%)
19 hypohidrosis 56 Very frequent (99-80%)
20 narrow mouth 56 Occasional (29-5%)
21 camptodactyly of finger 56 Very frequent (99-80%)
22 malignant hyperthermia 56 Very frequent (99-80%)
23 wide nose 56 Very frequent (99-80%)

MGI Mouse Phenotypes related to Cold-Induced Sweating Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.43 CLCF1 CNTF CNTFR CRLF1 LIFR SORL1
2 nervous system MP:0003631 9.1 CLCF1 CNTF CNTFR CRLF1 LIFR SORL1

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:

id Genetic test Affiliating Genes
1 Cold-Induced Sweating Syndrome 29

Anatomical Context for Cold-Induced Sweating Syndrome

Publications for Cold-Induced Sweating Syndrome

Articles related to Cold-Induced Sweating Syndrome:

(show all 13)
id Title Authors Year
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 type 1, with a CRLF1 level mutation, previously associated with Crisponi syndrome. ( 24008591 )
2013
4
Cold induced sweating syndrome with urinary system anomaly association. ( 24073352 )
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
Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes. ( 17436251 )
2007
9
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. ( 17436252 )
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

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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.77 CLCF1 CNTF CNTFR CRLF1 LIFR
2
Show member pathways
12.13 CLCF1 CNTF CNTFR CRLF1 LIFR
3
Show member pathways
11.83 CNTF CNTFR LIFR
4
Show member pathways
11.57 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:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.65 CLCF1 CNTF CRLF1 LIFR SORL1
2 extracellular space GO:0005615 9.55 CLCF1 CNTF CRLF1 LIFR SORL1
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:

id Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.65 CLCF1 CNTF CNTFR CRLF1 LIFR
2 cytokine-mediated signaling pathway GO:0019221 9.54 CLCF1 CNTFR LIFR
3 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 9.5 CLCF1 CNTF CRLF1
4 positive regulation of tyrosine phosphorylation of Stat3 protein GO:0042517 9.33 CLCF1 CNTF CRLF1
5 negative regulation of neuron apoptotic process GO:0043524 9.26 CLCF1 CNTF CNTFR CRLF1
6 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:

id Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.43 CLCF1 CNTF CRLF1
2 cytokine binding GO:0019955 9.16 CNTFR CRLF1
3 ciliary neurotrophic factor receptor activity GO:0004897 8.96 CNTFR LIFR
4 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....