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GENATLAS PHENOTYPE

last update : 14/11/2008

Symbol	CCHS2
Location	20q13.32
Name	congenital central hypoventilation syndrome 2
Other name(s)	Ondine curse, congenital
Corresponding gene	EDN3
Main clinical features	abnormal control of respiration in the absence of neuromuscular or lung disease, or an identifiable brainstem lesion, typically presenting in the first hours of life with cyanosis and increased carbon dioxide during sleep associated with several disorders classified as neurocristopathies, that is, aberrant phenotypes arising from a defect of migration or differentiation of neural crest cells, including neuroblastoma, ganglioneuromaand most frequently Hirschsprung disease (HSCR) which appears in 16p100 of patients
Genetic determination	autosomal dominant
Function/system disorder	neurology
Type	disease

Gene product

Name	endothelin 3 (EDN3)

Remark(s)