| H00916 | |
| H number | H00916 |
| Name | Congenital central hypoventilation syndrome |
| Description | 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. |
| Category | Nervous system disease |
| Network | - |
| Gene | (CCHS1) PHOX2B [HSA:8929] [KO:K09330] (CCHS2) MYOH1 [HSA:283446] [KO:K10356] (CCHS3) LBX1 [HSA:10660] [KO:K09353] ASCL1 [HSA:429] [KO:K09067] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 7A42.1 ICD-10: G47.3 MeSH: C536209 OMIM: 209880 619482 619483 |
| Reference | PMID:14566559 AUTHORS 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 TITLE Molecular analysis of congenital central hypoventilation syndrome. JOURNAL Hum Genet 114:22-6 (2003) DOI:10.1007/s00439-003-1036-z PMID:12640453 (CCHS1) AUTHORS 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 TITLE Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. JOURNAL Nat Genet 33:459-61 (2003) DOI:10.1038/ng1130 PMID:28779001 (CCHS2) AUTHORS Spielmann M, Hernandez-Miranda LR, Ceccherini I, Weese-Mayer DE, Kragesteen BK, Harabula I, Krawitz P, Birchmeier C, Leonard N, Mundlos S TITLE Mutations in MYO1H cause a recessive form of central hypoventilation with autonomic dysfunction. JOURNAL J Med Genet 54:754-761 (2017) DOI:10.1136/jmedgenet-2017-104765 PMID:30487221 (CCHS3) AUTHORS 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 TITLE Mutation in LBX1/Lbx1 precludes transcription factor cooperativity and causes congenital hypoventilation in humans and mice. JOURNAL Proc Natl Acad Sci U S A 115:13021-13026 (2018) DOI:10.1073/pnas.1813520115 PMID:14532329 (ASCL1) AUTHORS 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 TITLE Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse). JOURNAL Hum Mol Genet 12:3173-80 (2003) DOI:10.1093/hmg/ddg339 |