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H00916                      Disease                                

Congenital central hypoventilation syndrome (CCHS)
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.
Nervous system disease
Human diseases [BR:br08402]
 Other congenital disorders
   H00916  Congenital central hypoventilation syndrome (CCHS)
Human diseases in ICD-10 classification [BR:br08403]
 6. Diseases of the nervous system (G00-G99)
  G40-G47  Episodic and paroxysmal disorders
   G47  Sleep disorders
    H00916  Congenital central hypoventilation syndrome (CCHS)
BRITE hierarchy
MAPK signaling pathway
Neurotrophin signaling pathway
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
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
Molecular analysis of congenital central hypoventilation syndrome.
Hum Genet 114:22-6 (2003)
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
Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse).
Hum Mol Genet 12:3173-80 (2003)
Huang L, Guo H, Hellard DT, Katz DM
Glial cell line-derived neurotrophic factor (GDNF) is required for differentiation of pontine noradrenergic neurons and patterning of central respiratory output.
Neuroscience 130:95-105 (2005)

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