KEGG   DISEASE: Septo-optic dysplasiaHelp
Entry
H00544                      Disease                                

Name
Septo-optic dysplasia
  Subgroup
Optic nerve hypoplasia [DS:H02203]
Description
Septo-optic dysplasia is a heterogeneous condition with optic nerve hypoplasia, dysgenesis of the septum pellucidum, and pituitary hypofunction.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Congenital malformations of the nervous system
   H00544  Septo-optic dysplasia
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD20  Syndromes with central nervous system anomalies as a major feature
    H00544  Septo-optic dysplasia
BRITE hierarchy
Gene
HESX1 [HSA:8820] [KO:K09354]
SOX2 [HSA:6657] [KO:K16796]
SOX3 [HSA:6658] [KO:K09267]
OTX2 [HSA:5015] [KO:K18490]
Env factor
drug and alcohol abuse during pregnancy
Other DBs
ICD-11: LD20.Y
ICD-10: Q04.8
MeSH: D025962
OMIM: 182230
Reference
  Authors
Miller SP, Shevell MI, Patenaude Y, Poulin C, O'Gorman AM
  Title
Septo-optic dysplasia plus: a spectrum of malformations of cortical development.
  Journal
Neurology 54:1701-3 (2000)
DOI:10.1212/WNL.54.8.1701
Reference
  Authors
Kelberman D, Dattani MT
  Title
Genetics of septo-optic dysplasia.
  Journal
Pituitary 10:393-407 (2007)
DOI:10.1007/s11102-007-0055-5
Reference
  Authors
McCabe MJ, Alatzoglou KS, Dattani MT
  Title
Septo-optic dysplasia and other midline defects: the role of transcription factors: HESX1 and beyond.
  Journal
Best Pract Res Clin Endocrinol Metab 25:115-24 (2011)
DOI:10.1016/j.beem.2010.06.008

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