MCID: CLD003
MIFTS: 37

Cold-Induced Sweating Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Cold-Induced Sweating Syndrome

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Sources:
10Disease Ontology, 11diseasecard, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 45NIH Rare Diseases, 36MeSH, 65UMLS, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Cold-Induced Sweating Syndrome:

Name: Cold-Induced Sweating Syndrome 10 11 23 47 12 51 24
Crisponi Syndrome 10 45 23 47 51 36 65
Sohar-Crisponi Syndrome 10 23
 
Ciss 23 51
Muscle Contractions, Tetanoform, with Characteristic Face, Camptodactyly, Hyperthermia, and Sudden Death 45
Cntf Receptor-Related Disorders 23

Characteristics:

Orphanet epidemiological data:

51
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

Classifications:



External Ids:

Disease Ontology10 DOID:0060294
MeSH36 C536214
Orphanet51 157820, 1545
SNOMED-CT59 702363009
ICD10 via Orphanet28 G90.8
MESH via Orphanet37 C536214
UMLS via Orphanet66 C1832409
UMLS65 C1832409

Summaries for Cold-Induced Sweating Syndrome

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Genetics Home Reference:23 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 large face, broad cheeks/cherub-like/cherubin face and broad nose/nasal bridge. An important gene associated with Cold-Induced Sweating Syndrome is CRLF1 (Cytokine Receptor Like Factor 1), and among its related pathways are Adipogenesis and . Affiliated tissues include lung, eye and brain, and related mouse phenotypes are nervous system and behavior/neurological.

Disease Ontology:10 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.

Related Diseases for Cold-Induced Sweating Syndrome

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



Diseases related to cold-induced sweating syndrome

Symptoms for Cold-Induced Sweating Syndrome

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Symptoms:

 51 (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

Drugs & Therapeutics for Cold-Induced Sweating Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Cold-Induced Sweating Syndrome


Cochrane evidence based reviews: crisponi syndrome

Genetic Tests for Cold-Induced Sweating Syndrome

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Anatomical Context for Cold-Induced Sweating Syndrome

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

33
Lung, Eye, Brain, Heart, T cells, Skin

Animal Models for Cold-Induced Sweating Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Cold-Induced Sweating Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00036317.1CLCF1, CNTF, CNTFR, CRLF1, LIFR, SORL1
2MP:00053866.8CLCF1, CNTF, CNTFR, CRLF1, LIFR, SORL1

Publications for Cold-Induced Sweating Syndrome

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Articles related to Cold-Induced Sweating Syndrome:

(show all 13)
idTitleAuthorsYear
1
Apolipoprotein I/4-allele as a significant risk factor for conversion from mild cognitive impairment to Alzheimer's disease: a meta-analysis of prospective studies. (23242623)
2013
2
Regarding &quot;endovascular vs open repair for ruptured abdominal aortic aneurysm&quot;. (23446133)
2013
3
Effects of dietary supplementation with fish oil on dry eye syndrome subjects: randomized controlled trial. (24190233)
2013
4
Association of IL-1I^ -511 polymorphism with severe veno-occlusive disease in pediatric-matched allogeneic hematopoietic stem cell transplantation. (22395218)
2012
5
PICK1 is associated with central nervous system diseases]. (20014494)
2009
6
Diagnosis and treatment of neonatal diabetes: a United States experience. (18662362)
2008
7
The prevalence of potential drug-drug interactions in patients with heart failure at hospital discharge. (16454536)
2006
8
Basaloid squamous cell carcinoma of the larynx: a case report. (16444094)
2005
9
Alteration of glutamyltranspeptidase binding proteins in postmortem brains of heroin addicts. (8986227)
1996
10
t(14;18) and bcl-2 gene rearrangement in a B-chronic lymphocytic leukaemia. (1390255)
1992
11
Immunizations of monkeys with synthetic peptides disclose conserved areas on gp120 of human immunodeficiency virus type 1 associated with cross-neutralizing antibodies and T-cell recognition. (1961741)
1991
12
Fibrillin immunoreactive fibers constitute a unique network in the human dermis: immunohistochemical comparison of the distributions of fibrillin, vitronectin, amyloid P component, and orcein stainable structures in normal skin and elastosis. (1689758)
1990
13

Variations for Cold-Induced Sweating Syndrome

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Expression for genes affiliated with Cold-Induced Sweating Syndrome

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

Pathways for genes affiliated with Cold-Induced Sweating Syndrome

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

idSuper pathwaysScoreTop Affiliating Genes
19.3CNTFR, LIFR
2
Show member pathways
9.1CNTFR, LIFR
3
Show member pathways
8.5CNTF, CNTFR, LIFR
4
Show member pathways
8.5CNTF, CNTFR, LIFR
5
Show member pathways
8.1CLCF1, CNTF, CNTFR, LIFR
6
Show member pathways
7.6CLCF1, CNTF, CNTFR, CRLF1, LIFR
7
Show member pathways
7.6CLCF1, CNTF, CNTFR, CRLF1, LIFR
8
Show member pathways
7.6CLCF1, CNTF, CNTFR, CRLF1, LIFR

GO Terms for genes affiliated with Cold-Induced Sweating Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of neuron apoptotic processGO:00435249.1CNTF, CNTFR

Sources for Cold-Induced Sweating Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet