cold-induced sweating syndrome

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.

cold-induced sweating syndrome is …
instance of (P31):
rare diseaseQ929833
class of diseaseQ112193867

sublass of (P279):
syndromeQ179630
autosomal recessive diseaseQ10267817
autosomal dominant hereditary sensory and autonomic neuropathyQ55785424
cold-induced sweating syndrome-hyperthermia spectrumQ55788078

External links are
P699Disease Ontology IDDOID:0060294
P2888exact matchhttp://www.orpha.net/ORDO/Orphanet_157820
http://identifiers.org/doid/DOID:0060294
http://purl.obolibrary.org/obo/DOID_0060294
P4317GARD rare disease ID1611
P494ICD-10 IDQ87.0
P4229ICD-10-CMG90.8
P7807ICD-11 ID (Foundation)1884908195
P665KEGG IDH00935
P486MeSH descriptor IDC536214
P5270Mondo IDMONDO_0015526
P1748NCI Thesaurus IDC173147
P1550Orphanet ID157820
P2892UMLS CUIC1832409

P2293genetic associationCRLF1Q18033938
CLCF1Q18037245
KLHL7Q18042201
P1995health specialtymedical geneticsQ1071953
P5008on focus list of Wikimedia projectWikiProject MedicineQ4099686

Reverse relations

subclass of (P279)
Q55998740Crisponi syndrome
Q60195324cold-induced sweating syndrome 1
Q60195325cold-induced sweating syndrome 2
Q55785085cold-induced sweating syndrome 3; CISS3

established from medical condition (P5166)
Q98133972UKMi001-A
Q98133977UKMi001-B
Q98133980UKMi001-C

main subject (P921)
Q47695483Autonomic Reflex Screen Test Abnormalities in Cold-Induced Sweating Syndrome Type 1.
Q40345394Central and peripheral autonomic failure in cold-induced sweating syndrome type 1.
Q28075543Cold-Induced Sweating Syndrome Including Crisponi Syndrome
Q24610978Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene
Q40235537Cold-induced sweating syndrome type 1, with a CRLF1 level mutation, previously associated with Crisponi syndrome
Q28274287Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation
Q43095132Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases
Q48429298Cold-induced sweating syndrome: a report of two cases and demonstration of genetic heterogeneity.
Q24682743Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1
Q24550951Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient
Q48355682Multiple 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
Q35840736Warmth and nociceptive evoked potentials in cold-induced sweating syndrome type 1.

The articles in Wikimedia projects and languages

      Crisponi-Syndromwikipedia

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