IMPG1 gene related symptoms and diseases

All the information presented here about the IMPG1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to IMPG1 gene

Symptoms // Phenotype % Cases
Visual impairment Very Common - Between 80% and 100% cases
Drusen Very Common - Between 80% and 100% cases
Vitelliform-like macular lesions Very Common - Between 80% and 100% cases
Macular dystrophy Very Common - Between 80% and 100% cases
Abnormality of skin pigmentation Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with IMPG1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Full-thickness macular hole
  • Macular hole
  • Retinal nonattachment
  • Geographic atrophy
  • Metamorphopsia
  • Choroideremia
  • Choroidal neovascularization
  • Retinal fold

And 14 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to IMPG1 gene

Here you will find a list of rare diseases related to the IMPG1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


ADULT-ONSET FOVEOMACULAR VITELLIFORM DYSTROPHY


Alternate names

ADULT-ONSET FOVEOMACULAR VITELLIFORM DYSTROPHY Is also known as adult-onset foveomacular dystrophy, gass disease, pseudo-vitelliform macular dystrophy, adult-onset vitelliform macular dystrophy, pseudo-best disease, vitelliform macular dystrophy, adult-onset, foveomacular dystrophy, adult-onset, adult-onset foveomacular dyst

Description

Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a genetic macular dystrophy characterized by blurred vision, metamorphopsia and mild visual impairment secondary to a slightly elevated, yellow, egg yolk-like lesion located in the foveal or parafoveal region.

Most common symptoms of ADULT-ONSET FOVEOMACULAR VITELLIFORM DYSTROPHY

  • Visual impairment
  • Visual loss
  • Rod-cone dystrophy
  • Reduced visual acuity
  • Photophobia


More info about ADULT-ONSET FOVEOMACULAR VITELLIFORM DYSTROPHY

SOURCES: ORPHANET OMIM

MACULAR DYSTROPHY, VITELLIFORM, 4; VMD4


Description

Macular dystrophies are inherited retinal dystrophies in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea, the cone-rich region of the central retina. Vitelliform macular dystrophies (VMDs) form a subset of macular dystrophies characterized by round yellow deposits, usually at the center of the macula and containing lipofuscin, a chemically heterogeneous pigment visualized by autofluorescence imaging of the fundus (summary by Manes et al., 2013). Vitelliform macular dystrophy-4 is characterized by late-onset moderate visual impairment, small satellite drusen-like lesions in the foveal area, preservation of retinal pigment epithelium (RPE) reflectivity, deposits above the RPE between the ellipsoid and outer segment interdigitation lines on spectral-domain optical coherence tomography (SD-OCT), and normal or borderline results on electrooculography (EOG) (Meunier et al., 2014).For a discussion of genetic heterogeneity of vitelliform macular dystrophy, see VMD1 (OMIM ).

Most common symptoms of MACULAR DYSTROPHY, VITELLIFORM, 4; VMD4

  • Visual impairment
  • Abnormality of skin pigmentation
  • Macular dystrophy
  • Drusen
  • Vitelliform-like macular lesions


More info about MACULAR DYSTROPHY, VITELLIFORM, 4; VMD4

SOURCES: OMIM


Potential gene panels for IMPG1 gene

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

IMPG1 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the IMPG1 gene.

More info about this panel

Stargardt disease and macular distrophy (NGS panel for 14 genes) Panel

Portugal.

By CGC Genetics Stargardt disease and macular distrophy (NGS panel for 14 genes) that also includes the following genes: RPGR TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 RDH12 CNGB3 ABCA4

More info about this panel

Macular dystrophy vitelliform 4 (sequence analysis of IMPG1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the IMPG1 gene.

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

Autosomal Dominant Vitelliform Macular Dystrophy via IMPG1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the IMPG1 gene.

More info about this panel

Stargardt Disease and Macular Dystrophies Panel Panel

Germany.

By CeGaT GmbH Stargardt Disease and Macular Dystrophies Panel that also includes the following genes: RPGR TIMP3 BEST1 C1QTNF5 ELOVL4 RP1L1 CDH3 IMPG2 TTLL5 RDH12

More info about this panel

Vitelliform Macular Dystrophy Panel

Estonia.

By Asper Biogene Asper Biogene LLC Vitelliform Macular Dystrophy that also includes the following genes: BEST1 IMPG1 PRPH2

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

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

IMPG1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the IMPG1 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

Macular dystrophy, vitelliform Panel

Germany.

By Labor Dr. Wisplinghoff Macular dystrophy, vitelliform that also includes the following genes: BEST1 IMPG2 IMPG1

More info about this panel


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