KEGG   DISEASE: Oculoskeletodental syndrome
Entry
H02595                      Disease                                
Name
Oculoskeletodental syndrome
Description
Oculoskeletodental syndrome is a novel syndromic disorder involving neurological, visual, skeletal, growth, and occasionally hearing impairments. It has been reported that loss-of-function mutations in PIK3C2A cause this syndrome. PIK3C2A is a class II member of the phosphoinositide 3-kinase family of lipid kinases that catalyzes the phosphorylation of phosphatidylinositol.
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
    H02595  Oculoskeletodental syndrome
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06515  Regulation of kinetochore-microtubule interactions
   H02595  Oculoskeletodental syndrome
Pathway
hsa00562  Inositol phosphate metabolism
hsa04070  Phosphatidylinositol signaling system
Network
nt06515 Regulation of kinetochore-microtubule interactions
Gene
PIK3C2A [HSA:5286] [KO:K00923]
Other DBs
ICD-11: LD2F.1Y
OMIM: 618440
Reference
PMID:31034465
  Authors
Tiosano D, Baris HN, Chen A, Hitzert MM, Schueler M, Gulluni F, Wiesener A, Bergua A, Mory A, Copeland B, Gleeson JG, Rump P, van Meer H, Sival DA, Haucke V, Kriwinsky J, Knaup KX, Reis A, Hauer NN, Hirsch E, Roepman R, Pfundt R, Thiel CT, Wiesener MS, Aslanyan MG, Buchner DA
  Title
Mutations in PIK3C2A cause syndromic short stature, skeletal abnormalities, and cataracts associated with ciliary dysfunction.
  Journal
PLoS Genet 15:e1008088 (2019)
DOI:10.1371/journal.pgen.1008088
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