KEGG   DISEASE: Early-onset macular degeneration
Entry
H03030                      Disease                                
Name
Early-onset macular degeneration
Description
Early-onset macular degeneration (EOMD) is an early-onset monogenic disease. Macular degeneration is a major cause of untreatable visual impairment and affects the central region of the retina and the underlying retinal pigment epithelium. It has been reported that mutations in FBN2 cause EOMD. FBN2 encodes Fibrillin 2, a glycoprotein of the elastin-rich extracellular matrix.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Disorders of the eyeball posterior segment
   Disorders of the retina
    9B75  Macular disorders
     H03030  Early-onset macular degeneration
Gene
FBN2 [HSA:2201] [KO:K23342]
Other DBs
ICD-11: 9B75.Y
OMIM: 616118
Reference
  Authors
Ratnapriya R, Zhan X, Fariss RN, Branham KE, Zipprer D, Chakarova CF, Sergeev YV, Campos MM, Othman M, Friedman JS, Maminishkis A, Waseem NH, Brooks M, Rajasimha HK, Edwards AO, Lotery A, Klein BE, Truitt BJ, Li B, Schaumberg DA, Morgan DJ, Morrison MA, Souied E, Tsironi EE, Grassmann F, Fishman GA, Silvestri G, Scholl HP, Kim IK, Ramke J, Tuo J, Merriam JE, Merriam JC, Park KH, Olson LM, Farrer LA, Johnson MP, Peachey NS, Lathrop M, Baron RV, Igo RP Jr, Klein R, Hagstrom SA, Kamatani Y, Martin TM, Jiang Y, Conley Y, Sahel JA, Zack DJ, Chan CC, Pericak-Vance MA, Jacobson SG, Gorin MB, Klein ML, Allikmets R, Iyengar SK, Weber BH, Haines JL, Leveillard T, Deangelis MM, Stambolian D, Weeks DE, Bhattacharya SS, Chew EY, Heckenlively JR, Abecasis GR, Swaroop A
  Title
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.
  Journal
Hum Mol Genet 23:5827-37 (2014)
DOI:10.1093/hmg/ddu276
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