KEGG   DISEASE: Stargardt disease
H00819                      Disease                                
Stargardt disease;
Fundus flavimaculatus
Macular dystrophy [DS:H01770]
Stargardt disease (STGD) is the most common type of hereditary macular dystrophy. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium (RPE), and frequent presence of prominent flecks in the posterior pole of the retina. Histopathologically, eyes with STGD reveal abnormal accumulations of lipofuscin in the RPE. To date, mutations in four genes have been identified as causing STGD, including ABCA4, ELOVL4, PROM1, and CNGB3.
Nervous system disease
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Disorders of the eyeball posterior segment
   Disorders of the retina
    9B70  Inherited retinal dystrophies
     H00819  Stargardt disease
hsa02010  ABC transporters
hsa04024  cAMP signaling pathway
hsa00062  Fatty acid elongation
hsa01040  Biosynthesis of unsaturated fatty acids
(STGD1) ABCA4 [HSA:24] [KO:K05644]
(STGD3) ELOVL4 [HSA:6785] [KO:K10249]
(STGD4) PROM1 [HSA:8842] [KO:K06532]
Other DBs
ICD-11: 9B70
ICD-10: H35.5
MeSH: C535804 C535805 C535521
OMIM: 248200 600110 603786
Koenekoop RK
The gene for Stargardt disease, ABCA4, is a major retinal gene: a mini-review.
Ophthalmic Genet 24:75-80 (2003)
PMID:9054934 (STGD1)
Allikmets R, Singh N, Sun H, Shroyer NF, Hutchinson A, Chidambaram A, Gerrard B, Baird L, Stauffer D, Peiffer A, Rattner A, Smallwood P, Li Y, Anderson KL, Lewis RA, Nathans J, Leppert M, Dean M, Lupski JR
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
Nat Genet 15:236-46 (1997)
PMID:11138005 (STGD3)
Zhang K, Kniazeva M, Han M, Li W, Yu Z, Yang Z, Li Y, Metzker ML, Allikmets R, Zack DJ, Kakuk LE, Lagali PS, Wong PW, MacDonald IM, Sieving PA, Figueroa DJ, Austin CP, Gould RJ, Ayyagari R, Petrukhin K
A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy.
Nat Genet 27:89-93 (2001)
PMID:20393116 (STGD4)
Michaelides M, Gaillard MC, Escher P, Tiab L, Bedell M, Borruat FX, Barthelmes D, Carmona R, Zhang K, White E, McClements M, Robson AG, Holder GE, Bradshaw K, Hunt DM, Webster AR, Moore AT, Schorderet DF, Munier FL
The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.
Invest Ophthalmol Vis Sci 51:4771-80 (2010)

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