KEGG   DISEASE: KBG syndrome
Entry
H02327                      Disease                                
Name
KBG syndrome
Description
KBG syndrome is characterized by intellectual disability, skeletal malformations, and macrodontia. It has been reported that mutations in ANKRD11 cause this disease.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H02327  KBG syndrome
Gene
ANKRD11 [HSA:29123] [KO:K21436]
Other DBs
ICD-11: LD2F.1Y
MeSH: C537015
OMIM: 148050
Reference
PMID:15523620
  Authors
Brancati F, D'Avanzo MG, Digilio MC, Sarkozy A, Biondi M, De Brasi D, Mingarelli R, Dallapiccola B
  Title
KBG syndrome in a cohort of Italian patients.
  Journal
Am J Med Genet A 131:144-9 (2004)
DOI:10.1002/ajmg.a.30292
Reference
PMID:21782149
  Authors
Sirmaci A, Spiliopoulos M, Brancati F, Powell E, Duman D, Abrams A, Bademci G, Agolini E, Guo S, Konuk B, Kavaz A, Blanton S, Digilio MC, Dallapiccola B, Young J, Zuchner S, Tekin M
  Title
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
  Journal
Am J Hum Genet 89:289-94 (2011)
DOI:10.1016/j.ajhg.2011.06.007
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