Ontology highlight
ABSTRACT:
SUBMITTER: Trang H
PROVIDER: S-EPMC4268904 | biostudies-other | 2014 Dec
REPOSITORIES: biostudies-other
Trang Ha H Brunet Jean-François JF Rohrer Hermann H Gallego Jorge J Amiel Jeanne J Bachetti Tiziana T Fischbeck Kenneth H KH Similowski Thomas T Straus Christian C Ceccherini Isabella I Weese-Mayer Debra E DE Frerick Matthias M Bieganowska Katarzyna K Middleton Linda L Morandi Francesco F Ottonello Giancarlo G
Orphanet journal of rare diseases 20141205
Central hypoventilation syndromes (CHS) are rare diseases of central autonomic respiratory control associated with autonomous nervous dysfunction. Severe central hypoventilation is the hallmark and the most life-threatening feature. CHS is a group of not-fully defined disorders. Congenital CHS (CCHS) (ORPHA661) is clinically and genetically well-characterized, with the disease-causing gene identified in 2003. CCHS presents at birth in most cases, and associated with Hirschsprung's disease (ORPHA ...[more]