KEGG   DISEASE: H00916Help
Entry
H00916                      Disease                                

Name
Congenital central hypoventilation syndrome (CCHS)
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 hierarchy
Pathway
MAPK signaling pathway
Neurotrophin signaling pathway
Gene
PHOX2B [HSA:8929] [KO:K09330]
GDNF [HSA:2668] [KO:K05452]
RET [HSA:5979] [KO:K05126]
BDNF [HSA:627] [KO:K04355]
ASCL1 [HSA:429] [KO:K09067]
EDN3 [HSA:1908] [KO:K05227]
Other DBs
ICD-10: 
MeSH: 
OMIM: 
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)
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)
Reference
  Authors
Huang L, Guo H, Hellard DT, Katz DM
  Title
Glial cell line-derived neurotrophic factor (GDNF) is required for differentiation of pontine noradrenergic neurons and patterning of central respiratory output.
  Journal
Neuroscience 130:95-105 (2005)

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