| H00916 | |
| H番号 | H00916 |
| 名称 | 先天性中枢性低換気症候群 |
| 概要 | Congenital central hypoventilation syndrome (CCHS) is a disorder characterized by an idiopathic failure of the automatic control of breathing. It is frequently associated with a broad spectrum of dysautonomic symptoms, suggesting the involvement of genes widely expressed in the autonomic nervous system. In particular, the ASCL1-PHOX2A-PHOX2B developmental cascade was proposed as a candidate pathway. Recently, It has been showed that PHOX2B is the major CCHS locus, whose mutation accounts for 60% of cases. |
| カテゴリ | 神経系疾患 |
| ネットワーク | - |
| 病因遺伝子 | (CCHS1) PHOX2B [HSA:8929] [KO:K09330] (CCHS2) MYOH1 [HSA:283446] [KO:K10356] (CCHS3) LBX1 [HSA:10660] [KO:K09353] ASCL1 [HSA:429] [KO:K09067] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 7A42.1 ICD-10: G47.3 MeSH: C536209 OMIM: 209880 619482 619483 |
| 文献 | PMID:14566559 著者 Sasaki A, Kanai M, Kijima K, Akaba K, Hashimoto M, Hasegawa H, Otaki S, Koizumi T, Kusuda S, Ogawa Y, Tuchiya K, Yamamoto W, Nakamura T, Hayasaka K タイトル Molecular analysis of congenital central hypoventilation syndrome. 雑誌 Hum Genet 114:22-6 (2003) DOI:10.1007/s00439-003-1036-z PMID:12640453 (CCHS1) 著者 Amiel J, Laudier B, Attie-Bitach T, Trang H, de Pontual L, Gener B, Trochet D, Etchevers H, Ray P, Simonneau M, Vekemans M, Munnich A, Gaultier C, Lyonnet S タイトル Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. 雑誌 Nat Genet 33:459-61 (2003) DOI:10.1038/ng1130 PMID:28779001 (CCHS2) 著者 Spielmann M, Hernandez-Miranda LR, Ceccherini I, Weese-Mayer DE, Kragesteen BK, Harabula I, Krawitz P, Birchmeier C, Leonard N, Mundlos S タイトル Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction. 雑誌 J Med Genet 54:754-761 (2017) DOI:10.1136/jmedgenet-2017-104765 PMID:30487221 (CCHS3) 著者 Hernandez-Miranda LR, Ibrahim DM, Ruffault PL, Larrosa M, Balueva K, Muller T, Weerd W, Stolte-Dijkstra I, Hostra RMW, Brunet JF, Fortin G, Mundlos S, Birchmeier C タイトル Mutation in LBX1/Lbx1 precludes transcription factor cooperativity and causes congenital hypoventilation in humans and mice. 雑誌 Proc Natl Acad Sci U S A 115:13021-13026 (2018) DOI:10.1073/pnas.1813520115 PMID:14532329 (ASCL1) 著者 de Pontual L, Nepote V, Attie-Bitach T, Al Halabiah H, Trang H, Elghouzzi V, Levacher B, Benihoud K, Auge J, Faure C, Laudier B, Vekemans M, Munnich A, Perricaudet M, Guillemot F, Gaultier C, Lyonnet S, Simonneau M, Amiel J タイトル Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse). 雑誌 Hum Mol Genet 12:3173-80 (2003) DOI:10.1093/hmg/ddg339 |