central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
Findings
No curated finding names central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0800026), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
17 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Central hypoventilationHPOHP:0007110
- 27 of 27 reported patients
- HypoventilationHPOHP:0002791
- 20 of 20 reported patients
- Nocturnal hypoventilationHPOHP:0002877
- 10 of 10 reported patients
- Decreased heart rate variabilityHPOHP:0031861
- 14 of 16 reported patients
- Abnormality of the autonomic nervous systemHPOHP:0002270
- Very frequent (80% to 99% of cases)
- Respiratory insufficiency
Genes
3 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PHOX2BHGNC:9143
- Definitive · Ambry Genetics · Autosomal dominant · 2023
- Definitive · ClinGen · Autosomal dominant · 2022
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- ASCL1HGNC:738
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- HGNC:13879HGNC:13879
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
9 names
Resolves to: central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
- Also called
- autonomic control, congenital failure ofCCHScongenital central alveolar hypoventilation syndromecongenital central hypoventilationcongenital central hypoventilation syndromecongenital Ondine curseOndine curseOndine curse, congenitalOndine syndrome