KEGG   DISEASE: EDICT syndrome
Entry
H02426                      Disease                                
Name
EDICT syndrome
Description
EDICT syndrome is an autosomal dominant syndrome characterized by endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning. It has been reported that a single-base substitution in the seed region of miR-184 causes EDICT syndrome.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Disorders of the eyeball anterior segment
   Disorders of the cornea
    9A78  Certain specified disorders of cornea
     H02426  EDICT syndrome
Gene
MIR184 [HSA:406960] [KO:K17177]
Other DBs
ICD-11: 9A78.5Y
OMIM: 614303
Reference
PMID:14638698
  Authors
Hughes AE, Dash DP, Jackson AJ, Frazer DG, Silvestri G
  Title
Familial keratoconus with cataract: linkage to the long arm of chromosome 15 and exclusion of candidate genes.
  Journal
Invest Ophthalmol Vis Sci 44:5063-6 (2003)
DOI:10.1167/iovs.03-0399
Reference
PMID:22131394
  Authors
Iliff BW, Riazuddin SA, Gottsch JD
  Title
A single-base substitution in the seed region of miR-184 causes EDICT syndrome.
  Journal
Invest Ophthalmol Vis Sci 53:348-53 (2012)
DOI:10.1167/iovs.11-8783
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