KEGG   DISEASE: Li-Ghorbani-Weisz-Hubshman syndrome
Entry
H02515                      Disease                                
Name
Li-Ghorbani-Weisz-Hubshman syndrome
Description
Li-Ghorbani-Weisz-Hubshman syndrome (LIGOWS) is an intellectual disability syndrome caused by mutations in KAT8. Patients are with intellectual disability, seizures, autism, dysmorphisms, and other anomalies. KAT8 encodes lysine acetyltransferase 8, that is critical for acetylation of histone H4 at lysine 16.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H02515  Li-Ghorbani-Weisz-Hubshman syndrome
Gene
KAT8 [HSA:84148] [KO:K11308]
Other DBs
ICD-11: LD90.Y
OMIM: 618974
Reference
PMID:31794431
  Authors
Li L, Ghorbani M, Weisz-Hubshman M, Rousseau J, Thiffault I, Schnur RE, Breen C, Oegema R, Weiss MM, Waisfisz Q, Welner S, Kingston H, Hills JA, Boon EM, Basel-Salmon L, Konen O, Goldberg-Stern H, Bazak L, Tzur S, Jin J, Bi X, Bruccoleri M, McWalter K, Cho MT, Scarano M, Schaefer GB, Brooks SS, Hughes SS, van Gassen KLI, van Hagen JM, Pandita TK, Agrawal PB, Campeau PM, Yang XJ
  Title
Lysine acetyltransferase 8 is involved in cerebral development and syndromic intellectual disability.
  Journal
J Clin Invest 130:1431-1445 (2020)
DOI:10.1172/JCI131145
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