KEGG   DISEASE: Kabuki syndromeHelp
Entry
H00570                      Disease                                

Name
Kabuki syndrome
Description
Kabuki syndrome, or Kabuki make-up syndrome, is a multiple malformation/mental retardation syndrome that is inherited in an autosomal dominant manner. Patients often have long palpebral fissures with eversion of the lateral one-third of the lower eyelids and arched and broad eyebrows that resemble the make-up of actors in Kabuki, the traditional Japanese play. Other features include postnatal growth delay during the first year of life, persistent fetal fingertip pads, congenital heart defects, and skeletal anomalies such as the absence of digital triradius c and/or d.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00570  Kabuki syndrome
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
    H00570  Kabuki syndrome
BRITE hierarchy
Pathway
hsa00310  Lysine degradation
Gene
MLL2 [HSA:8085] [KO:K09187]
KDM6A [HSA:7403] [KO:K11447]
Other DBs
ICD-11: LD2F.1Y
ICD-10: Q89.8
MeSH: C537705
OMIM: 147920 300867
Reference
  Authors
Adam MP, Hudgins L
  Title
Kabuki syndrome: a review.
  Journal
Clin Genet 67:209-19 (2005)
DOI:10.1111/j.1399-0004.2004.00348.x
Reference
  Authors
Wessels MW, Brooks AS, Hoogeboom J, Niermeijer MF, Willems PJ
  Title
Kabuki syndrome: a review study of three hundred patients.
  Journal
Clin Dysmorphol 11:95-102 (2002)
Reference
  Authors
Adam MP, Hudgins L, Hannibal M
  Title
Kabuki Syndrome
  Journal
GeneReviews (1993)
Reference
  Authors
Van Laarhoven PM, Neitzel LR, Quintana AM, Geiger EA, Zackai EH, Clouthier DE, Artinger KB, Ming JE, Shaikh TH
  Title
Kabuki syndrome genes KMT2D and KDM6A: functional analyses demonstrate critical roles in craniofacial, heart and brain development.
  Journal
Hum Mol Genet 24:4443-53 (2015)
DOI:10.1093/hmg/ddv180

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