Stargardt Disease 3; Stgd3

Clinical Features

Phenotypes and symptoms related to Stargardt Disease 3; Stgd3

  • Visual impairment
  • Reduced visual acuity
  • Macular degeneration
  • Cone/cone-rod dystrophy
  • Macular dystrophy
  • Macular atrophy
  • Retinal pigment epithelial atrophy
  • Dark choroid
  • Macular 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.

Alternative names

Stargardt Disease 3; Stgd3 Is also known as macular dystrophy with flecks, type 3, stargardt-like macular dystrophy, autosomal dominant.

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 3; Stgd3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
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 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
ELOVL4.

By Institute for Human Genetics University Clinic Freiburg (Germany).

ELOVL4
Specificity
100 %
Genes
100 %
ELOVL4 mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

ELOVL4
Specificity
100 %
Genes
100 %
ELOVL4. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

ELOVL4
Specificity
100 %
Genes
100 %
Stargardt disease type 3 (sequence analysis of ELOVL4 gene).

By CGC Genetics (Portugal).

ELOVL4
Specificity
100 %
Genes
100 %
Hereditary ataxias (NGS panel for 44 genes).

By CGC Genetics (Portugal).

SACS, SLC1A3, SPTBN2, TTPA, VAMP1, VLDLR, CACNA1A, CACNB4, ELOVL4, ABHD12, APTX, TGM6, COQ8A, SYNE1, TDP1, TTBK2, CCDC88C, ELOVL5, SYT14, PLEKHG4 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %

You can get up to 43 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

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