| H00935 | |
| H番号 | H00935 |
| 名称 | 寒冷誘発性発汗症候群 |
| 概要 | 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. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | (CISS1) CRLF1 [HSA:9244] [KO:K24481] (CISS2) CLCF1 [HSA:23529] [KO:K05421] (CISS3) KLHL7 [HSA:55975] [KO:K10445] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 8C21.Y LD26.41 ICD-10: G90.8 MeSH: C536214 OMIM: 272430 610313 617055 |
| 文献 | PMID:21370513 著者 Hahn AF, Boman H タイトル Cold-Induced Sweating Syndrome including Crisponi Syndrome 雑誌 GeneReviews (1993) PMID:17436251 (CISS1) 著者 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 タイトル Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes. 雑誌 Am J Hum Genet 80:966-70 (2007) DOI:10.1086/513608 PMID:16782820 (CISS2) 著者 Rousseau F, Gauchat JF, McLeod JG, Chevalier S, Guillet C, Guilhot F, Cognet I, Froger J, Hahn AF, Knappskog PM, Gascan H, Boman H タイトル Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient. 雑誌 Proc Natl Acad Sci U S A 103:10068-73 (2006) DOI:10.1073/pnas.0509598103 PMID:27392078 (CISS3) 著者 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 タイトル Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa. 雑誌 Am J Hum Genet 99:236-45 (2016) DOI:10.1016/j.ajhg.2016.05.026 |