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GENATLAS PHENOTYPE
last update : 14/11/2008
Symbol CCHS1
Location 10q11.21
Name congenital central hypoventilation syndrome
Other name(s)
  • Ondine curse
  • Haddad syndrome
    • Corresponding gene RET
    Main clinical features
  • abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brainstem lesion, typically presenting in the first hours of life with cyanosis and increased carbon dioxide during sleep
  • associated with several disorders classified as neurocristopathies, that is, aberrant phenotypes arising from a defect of migration or differentiation of neural crest cells, including neuroblastoma, ganglioneuromaand most frequently Hirschsprung disease (HSCR) which appears in 16p100 of patients
    • Genetic determination
    Related entries cases associated with Hirschsprung disease, Haddad syndrome, (RET defect))
    Function/system disorder neurology
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense     unlikely to be a signficant cause of CCHS
    Remark(s) the weak predisposing haplotype of the RET gene can be regarded as a quantitative trait, being a risk factor for the HSCR phenotype