KEGG   DISEASE: Bosch-Boonstra optic atrophy syndrome
Entry
H01378                      Disease                                
Name
Bosch-Boonstra optic atrophy syndrome
Description
Bosch-Boonstra optic atrophy syndrome is an autosomal dominant disorder characterized by mild to moderate intellectual impairment and optic atrophy. Heterozygous mutations in the NR2F1 gene have been associated with this disease.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Disorders of the visual pathways or centres
   9C40  Disorder of the optic nerve
    H01378  Bosch-Boonstra optic atrophy syndrome
Gene
NR2F1 [HSA:7025] [KO:K08547]
Other DBs
ICD-11: 9C40.B0
ICD-10: H47.2
OMIM: 615722
Reference
PMID:24462372
  Authors
Bosch DG, Boonstra FN, Gonzaga-Jauregui C, Xu M, de Ligt J, Jhangiani S, Wiszniewski W, Muzny DM, Yntema HG, Pfundt R, Vissers LE, Spruijt L, Blokland EA, Chen CA, Lewis RA, Tsai SY, Gibbs RA, Tsai MJ, Lupski JR, Zoghbi HY, Cremers FP, de Vries BB, Schaaf CP
  Title
NR2F1 mutations cause optic atrophy with intellectual disability.
  Journal
Am J Hum Genet 94:303-9 (2014)
DOI:10.1016/j.ajhg.2014.01.002

» Japanese version

  All links  
Disease (1)   
   OMIM (1)   
Gene (2)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (1)   
Literature (1)   
   PubMed (1)   
All databases (4)   

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