Details of Disease

General Information of Disease (ID: DISODX61)

• Disease Name: Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
• Synonyms: Ondine's curse (formerly); congenital failure of autonomic control; Ondine-Hirschsprung disease; Haddad syndrome; central hypoventilation syndrome, congenital; primary alveolar hypoventilation; Ondine curse (formerly); idiopathic congenital central alveolar hypoventilation; CCHS with Hirschsprung disease; autonomic control, congenital failure of; Ondine curse, congenital; central congenital hypoventilation syndrome; congenital central hypoventilation; congenital central hypoventilation syndrome; Ondine curse; congenital central alveolar hypoventilation syndrome; congenital Ondine curse; CCHS; Ondine syndrome
• Definition: A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.
• Disease Hierarchy:
  DISQRK53: Central hypoventilation syndrome, congenital
  DIS6SVEE: Syndromic disease
  DIS2BIP8: Congenital nervous system disorder
  DISD715V: Hereditary neurological disease
  DIS2IQBH: Neurocristopathy
  DIS6JLTA: Autonomic nervous system disorder
  DISODX61: Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
• Disease Identifiers:
  MONDO ID: MONDO_0800026
  UMLS CUI: C5562075
  OMIM ID: 209880
  MedGen ID: 1794285
  Orphanet ID: 661

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PHOX2B	OT3SFR2O	Definitive	Autosomal dominant	[1]

References

• [1] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.