MeSH Browser

MeSH Supplementary: Congenital central hypoventilation syndrome
Unique ID: C536209
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536209
Entry Term(s): Autonomic Control, Congenital Failure of; Cchs With Hirschsprung Disease; Central Hypoventilation Syndrome, Congenital; Congenital Ondine curse; Congenital failure of autonomic control; Haddad Syndrome; Idiopathic congenital central alveolar hypoventilation; Ondine Curse, Congenital; Ondine-Hirschsprung Disease; Primary alveolar hypoventilation
Heading Mapped to: Hypoventilation / congenital; *Sleep Apnea, Central
Frequency: 221
Note: An inherited disorder where patients present with abnormal respiration in the absence of neuromuscular, lung or cardiac diseases, or an identifiable brainstem lesion. Hypoventilation occurs during sleep but can occur during wakefulness in severe cases.Autonomic defects cause inadequate or negligible ventilatory and arousal responses to hypercapnia and hypoxemia. Germline mutations in the PHOX2B, ASCL2, EDN3, and RET genes have been identified. OMIM: 209880
Date of Entry: 2010/08/25
Revision Date: 2015/08/18

Congenital central hypoventilation syndrome MeSH Supplementary Concept Data 2024