DISEASE: Congenital central hypoventilation syndrome
Entry
H00916 Disease
Name
Congenital central hypoventilation syndrome
Description
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.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
07 Sleep-wake disorders
Sleep-related breathing disorders
7A42 Sleep-related hypoventilation or hypoxemia disorders
H00916 Congenital central hypoventilation syndrome
Amiel J, Laudier B, Attie-Bitach T, Trang H, de Pontual L, Gener B, Trochet D, Etchevers H, Ray P, Simonneau M, Vekemans M, Munnich A, Gaultier C, Lyonnet S
Title
Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.
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
Title
Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse).
