KEGG   DISEASE: Congenital central hypoventilation syndrome
Entry
H00916                      Disease                                

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
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H00916  Congenital central hypoventilation syndrome
Human diseases in ICD-11 classification [BR:br08403]
 07 Sleep-wake disorders
  Sleep-related breathing disorders
   7A42  Sleep-related hypoventilation or hypoxemia disorders
    H00916  Congenital central hypoventilation syndrome
Gene
(CCHS1) PHOX2B [HSA:8929] [KO:K09330]
(CCHS2) MYOH1 [HSA:283446] [KO:K10356]
(CCHS3) LBX1 [HSA:10660] [KO:K09353]
ASCL1 [HSA:429] [KO:K09067]
Other DBs
ICD-11: 7A42.1
ICD-10: G47.3
MeSH: C536209
OMIM: 209880 619482 619483
Reference
  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
Reference
  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
Reference
  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
Reference
  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
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