Cold-Induced Sweating Syndrome 1 malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases
11Disease Ontology, 12diseasecard, 13DISEASES, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
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Aliases & Descriptions for Cold-Induced Sweating Syndrome 1:
Orphanet epidemiological data:53
cold-induced sweating syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult,Childhood; Age of death: normal life expectancy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal
cold-induced sweating syndrome 1:
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases
ICD10: 30 29
Rare neurological diseases
OMIM:51 Cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial... (272430) more...
MalaCards based summary: Cold-Induced Sweating Syndrome 1, also known as crisponi syndrome, is related to cold-induced sweating syndrome 2 and cold-induced sweating syndrome 3, and has symptoms including full cheeks, long philtrum and anteverted nares. An important gene associated with Cold-Induced Sweating Syndrome 1 is CRLF1 (Cytokine Receptor Like Factor 1), and among its related pathways are CNTF Signaling and Translation Insulin regulation of translation. Affiliated tissues include skin, and related mouse phenotypes are behavior/neurological and nervous system.
Disease Ontology:11 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.
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.
UniProtKB/Swiss-Prot:69 Cold-induced sweating syndrome 1: An autosomal recessive disorder characterized by profuse sweating induced by cool surroundings (temperatures of 7 to 18 degrees Celsius). Patients manifest, in the neonatal period, orofacial weakness with impaired sucking and swallowing, resulting in poor feeding. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. These features are referred to as Crisponi syndrome and can result in early death in infancy. Patients who survive into childhood have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Additional abnormalities include a high-arched palate, nasal voice, depressed nasal bridge, inability to fully extend the elbows and kyphoscoliosis.
Human phenotypes related to Cold-Induced Sweating Syndrome 1:63 53 (show all 46)
UMLS symptoms related to Cold-Induced Sweating Syndrome 1:dyspnea, opisthotonus, facial paresis
Drugs for Cold-Induced Sweating Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show top 50) (show all 52)
Interventional clinical trials:(show top 50) (show all 71)
Search NIH Clinical Center for Cold-Induced Sweating Syndrome 1
MalaCards organs/tissues related to Cold-Induced Sweating Syndrome 1:35
UniProtKB/Swiss-Prot genetic disease variations for Cold-Induced Sweating Syndrome 1:69 (show all 14)
Clinvar genetic disease variations for Cold-Induced Sweating Syndrome 1:5 (show all 18)
Search GEO for disease gene expression data for Cold-Induced Sweating Syndrome 1.
Pathways related to Cold-Induced Sweating Syndrome 1 according to GeneCards Suite gene sharing:
Cellular components related to Cold-Induced Sweating Syndrome 1 according to GeneCards Suite gene sharing:
Biological processes related to Cold-Induced Sweating Syndrome 1 according to GeneCards Suite gene sharing:
Molecular functions related to Cold-Induced Sweating Syndrome 1 according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet