KEGG   DISEASE: Developmental delay with sleep apnea
Entry
H03110                      Disease                                
Name
Developmental delay with sleep apnea
Description
Developmental delay with sleep apnea (DDSA) is a rare monogenic channelopathy caused by gain-of-function mutations in KCNK3. DDSA is characterized by hypotonia, global developmental delay, central and/or obstructive sleep apnea, and feeding difficulties. KCNK3 encodes TASK-1, a K+ channel that is implicated in the control of breathing.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  8E7Y  Other specified diseases of the nervous system
   H03110  Developmental delay with sleep apnea
Gene
KCNK3 [HSA:3777] [KO:K04914]
Other DBs
ICD-11: 8E7Y
OMIM: 621402
Reference
PMID:36195757
  Authors
Sormann J, Schewe M, Proks P, Jouen-Tachoire T, Rao S, Riel EB, Agre KE, Begtrup A, Dean J, Descartes M, Fischer J, Gardham A, Lahner C, Mark PR, Muppidi S, Pichurin PN, Porrmann J, Schallner J, Smith K, Straub V, Vasudevan P, Willaert R, Carpenter EP, Rodstrom KEJ, Hahn MG, Muller T, Baukrowitz T, Hurles ME, Wright CF, Tucker SJ
  Title
Gain-of-function mutations in KCNK3 cause a developmental disorder with sleep apnea.
  Journal
Nat Genet 54:1534-1543 (2022)
DOI:10.1038/s41588-022-01185-x
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