Stargardt Disease 4; Stgd4
Description
Stargardt disease is the most common hereditary macular dystrophy and is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina. STGD is most commonly inherited as an autosomal recessive trait (see {248200}), but STGD4 is inherited as an autosomal domiant trait (summary by Kniazeva et al., 1999).
Clinical Features
Phenotypes and symptoms related to Stargardt Disease 4; Stgd4
- Reduced visual acuity
- Macular degeneration
- Macular dystrophy
- Macular atrophy
- Retinal flecks
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Stargardt Disease 4; Stgd4 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
PROM1 Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
PROM1
Specificity
100 %
Genes
100 % |
PROM1 Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
PROM1
Specificity
100 %
Genes
100 % |
PROM1 Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
PROM1
Specificity
100 %
Genes
100 % |
PROM1 Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
PROM1
Specificity
100 %
Genes
100 % |
Cone-Rod Dystrophy Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RPGR, CNNM4, SEMA4A, TULP1, CFAP410, BEST1, RPGRIP1, CACNA1F, CDHR1, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, PITPNM3, CNGA3, CNGB3, EYS, ADAM9, CERKL , (...)
View the complete list with 16 more genes
Specificity
3 %
Genes
100 % |
Macular Degeneration Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RPGR, TIMP3, BEST1, C1QTNF5, ELOVL4, RP1L1, CDH3, RAX2, IMPG2, HMCN1, CNGB3, CTNNA1, MFSD8, DRAM2, EFEMP1, ABCA4, FBLN5, FSCN2, GUCA1B, IMPG1 , (...)
View the complete list with 4 more genes
Specificity
5 %
Genes
100 % |
Retinitis Pigmentosa Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SPP2, TULP1, USH2A, CLRN1, BEST1, ARL6, RPGRIP1, CA4, C1QTNF5, CDHR1 , (...)
View the complete list with 72 more genes
Specificity
2 %
Genes
100 % |
You can get up to 63 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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