KEGG   DISEASE: Stargardt diseaseHelp
Entry
H00819                      Disease                                

Name
Stargardt disease;
Fundus flavimaculatus
  Supergrp
Macular dystrophy [DS:H01770]
Description
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.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Eye disease
   H00819  Stargardt 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
BRITE hierarchy
Pathway
hsa02010  ABC transporters
hsa00062  Fatty acid elongation
hsa01040 Biosynthesis of unsaturated fatty acids   
Gene
(STGD1) ABCA4 [HSA:24] [KO:K05644]
(STGD1) CNGB3 [HSA:54714] [KO:K04953]
(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
Reference
  Authors
Koenekoop RK
  Title
The gene for Stargardt disease, ABCA4, is a major retinal gene: a mini-review.
  Journal
Ophthalmic Genet 24:75-80 (2003)
Reference
  Authors
Xi Q, Li L, Traboulsi EI, Wang QK
  Title
Novel ABCA4 compound heterozygous mutations cause severe progressive autosomal recessive cone-rod dystrophy presenting as Stargardt disease.
  Journal
Mol Vis 15:638-45 (2009)
Reference
  Authors
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
  Title
The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.
  Journal
Invest Ophthalmol Vis Sci 51:4771-80 (2010)
DOI:10.1167/iovs.09-4561

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