EFEMP1 gene related symptoms and diseases

All the information presented here about the EFEMP1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to EFEMP1 gene

Symptoms // Phenotype % Cases
Neoplasm Very Common - Between 80% and 100% cases
Visual impairment Very Common - Between 80% and 100% cases
Blindness Very Common - Between 80% and 100% cases
Visual loss Very Common - Between 80% and 100% cases
Retinal degeneration Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with EFEMP1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Retinal dystrophy
  • Macular degeneration
  • Macular dystrophy
  • Drusen
  • Vitreous hemorrhage
  • Posterior uveitis
  • Macular drusen
  • Reticular pigmentary degeneration
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Rare diseases associated to EFEMP1 gene

Here you will find a list of rare diseases related to the EFEMP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FAMILIAL DRUSEN


Alternate names

FAMILIAL DRUSEN Is also known as doyne honeycomb degeneration of retina, malattia leventinese, dominant drusen, dhd, doyne honeycomb retinal dystrophy, dominant radial drusen, dhrd

Most common symptoms of FAMILIAL DRUSEN

  • Neoplasm
  • Visual impairment
  • Blindness
  • Visual loss
  • Retinal degeneration


More info about FAMILIAL DRUSEN

SOURCES: OMIM ORPHANET


Potential gene panels for EFEMP1 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

Macular Degeneration Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Macular Degeneration Panel that also includes the following genes: RPGR TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 RAX2 IMPG2 HMCN1

More info about this panel

EFEMP1. Detection of the mutation p.Arg345Tr by sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the EFEMP1 gene.

More info about this panel

EFEMP1. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the EFEMP1 gene.

More info about this panel

Doyne honeycomb retinal dystrophy (R345W mutation on EFEMP1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the EFEMP1 gene.

More info about this panel

Doyne honeycomb retinal dystrophy (sequence analysis of EFEMP1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the EFEMP1 gene.

More info about this panel

Malattia Leventinese and Doyne Honeycomb Retinal Dystrophy via EFEMP1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the EFEMP1 gene.

More info about this panel

Stargardt Disease (STGD) and Macular Dystrophies Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Stargardt Disease (STGD) and Macular Dystrophies Sequencing Panel with CNV Detection that also includes the following genes: RLBP1 RPGR RS1 TIMP3 BEST1 RPGRIP1 C1QTNF5 ELOVL4 RP1L1 CDH3

More info about this panel

Flecked Retina Disorder Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Flecked Retina Disorder Sequencing Panel with CNV Detection that also includes the following genes: RHO RLBP1 RS1 ELOVL4 CHM VPS13B EFEMP1 ABCA4 LRAT PLA2G5

More info about this panel

Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Doyne honeycob retinal dystrophy Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the EFEMP1 gene.

More info about this panel

Flecked Retina Disorders Panel Panel

Germany.

By CeGaT GmbH Flecked Retina Disorders Panel that also includes the following genes: RLBP1 RS1 CHM VPS13B EFEMP1 PLA2G5 RDH5

More info about this panel

Single gene testing EFEMP1 Panel

Germany.

By CeGaT GmbH

This panel specifically test the EFEMP1 gene.

More info about this panel

Eye diseases comprehensive panel Panel

Estonia.

By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Stargardt Panel Panel

United States.

By Molecular Vision Laboratory Stargardt Panel that also includes the following genes: TIMP3 BEST1 ELOVL4 RP1L1 CDH3 IMPG2 TTLL5 DRAM2 EFEMP1 ABCA4

More info about this panel

Retinal Dystrophy Panel Panel

United States.

By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

EFEMP1 single gene sequencing Panel

United States.

By Molecular Vision Laboratory

This panel specifically test the EFEMP1 gene.

More info about this panel

MVL Vision Panel Panel

United States.

By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR

More info about this panel

Eye Disorders: Comprehensive Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Comprehensive Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1

More info about this panel

Macular Dystrophy / Degeneration / Stargardt Disease: Sequencing and Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Macular Dystrophy / Degeneration / Stargardt Disease: Sequencing and Deletion/Duplication Panel that also includes the following genes: RPGR TIMP3 BEST1 RPGRIP1 ELOVL4 CDH3 RDH12 CNGB3 EFEMP1 ABCA4

More info about this panel

Retina/Photoreceptor Dystrophy: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Retina/Photoreceptor Dystrophy: Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4

More info about this panel

Eye Disorders: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Deletion/Duplication Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1

More info about this panel

Eye Disorders NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Eye Disorders NGS Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4

More info about this panel

Macular Degeneration NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Macular Degeneration NGS Panel that also includes the following genes: RLBP1 RPGR CFB TLR4 C2 C3 ELOVL4 RAX2 HMCN1 CNGB3

More info about this panel

EFEMP1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the EFEMP1 gene.

More info about this panel

Retinal Dystrophy Panel Panel

Finland.

By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4

More info about this panel

Macular Dystrophy Panel Panel

Finland.

By Blueprint Genetics Macular Dystrophy Panel that also includes the following genes: RLBP1 RPGR RS1 TIMP3 BEST1 PRDM13 C1QTNF5 ELOVL4 RP1L1 CDH3

More info about this panel

Familial drusen Panel

Spain.

By Bioarray

This panel specifically test the EFEMP1 gene.

More info about this panel

Doyne Honeycomb Retinal Dystrophy , Sequencing EFEMP1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the EFEMP1 gene.

More info about this panel


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