| H00935 | |
| H number | H00935 |
| Name | Cold-induced sweating syndrome |
| Description | Cold-induced sweating syndrome (CISS) is inherited in an autosomal recessive manner. Mutations in CRLF1 account for about 90% and mutations in CLCF1 account for about 10% of CISS. CISS is characterized by profuse sweating induced by cool surroundings. |
| Category | Congenital malformation |
| Network | - |
| Gene | (CISS1) CRLF1 [HSA:9244] [KO:K24481] (CISS2) CLCF1 [HSA:23529] [KO:K05421] (CISS3) KLHL7 [HSA:55975] [KO:K10445] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 8C21.Y LD26.41 ICD-10: G90.8 MeSH: C536214 OMIM: 272430 610313 617055 |
| Reference | PMID:21370513 AUTHORS Hahn AF, Boman H TITLE Cold-Induced Sweating Syndrome including Crisponi Syndrome JOURNAL GeneReviews (1993) PMID:17436251 (CISS1) AUTHORS Dagoneau N, Bellais S, Blanchet P, Sarda P, Al-Gazali LI, Di Rocco M, Huber C, Djouadi F, Le Goff C, Munnich A, Cormier-Daire V TITLE Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes. JOURNAL Am J Hum Genet 80:966-70 (2007) DOI:10.1086/513608 PMID:16782820 (CISS2) AUTHORS Rousseau F, Gauchat JF, McLeod JG, Chevalier S, Guillet C, Guilhot F, Cognet I, Froger J, Hahn AF, Knappskog PM, Gascan H, Boman H TITLE Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient. JOURNAL Proc Natl Acad Sci U S A 103:10068-73 (2006) DOI:10.1073/pnas.0509598103 PMID:27392078 (CISS3) AUTHORS Angius A, Uva P, Buers I, Oppo M, Puddu A, Onano S, Persico I, Loi A, Marcia L, Hohne W, Cuccuru G, Fotia G, Deiana M, Marongiu M, Atalay HT, Inan S, El Assy O, Smit LM, Okur I, Boduroglu K, Utine GE, Kilic E, Zampino G, Crisponi G, Crisponi L, Rutsch F TITLE Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. JOURNAL Am J Hum Genet 99:236-45 (2016) DOI:10.1016/j.ajhg.2016.05.026 |