PIKFYVE gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to PIKFYVE gene

Symptoms // Phenotype % Cases
Photophobia Very Common - Between 80% and 100% cases
Corneal opacity Very Common - Between 80% and 100% cases
Retinal detachment Very Common - Between 80% and 100% cases
Corneal dystrophy Very Common - Between 80% and 100% cases
Metamorphopsia Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Speckled corneal dystrophy
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Rare diseases associated to PIKFYVE gene

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


FLECK CORNEAL DYSTROPHY


Alternate names

FLECK CORNEAL DYSTROPHY Is also known as fleck corneal dystrophy, corneal dystrophy, francois-neetens speckled or flecked, franÇois-neetens speckled corneal dystrophy, fcd, cfd

Description

Fleck corneal dystrophy (FCD) is a rare generally asymptomatic form of stromal corneal dystrophy (see this term) characterized by multiple asymptomatic, non-progressive opacities disseminated throughout the corneal stroma with no effect on visual acuity.

Most common symptoms of FLECK CORNEAL DYSTROPHY

  • Photophobia
  • Corneal opacity
  • Retinal detachment
  • Corneal dystrophy
  • Metamorphopsia


More info about FLECK CORNEAL DYSTROPHY

SOURCES: OMIM ORPHANET MESH


Potential gene panels for PIKFYVE gene

PIKFYVE Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the PIKFYVE gene.

More info about this panel

Corneal Dystrophies Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Corneal Dystrophies Sequencing Panel with CNV Detection that also includes the following genes: TACSTD2 TCF4 ZEB1 TGFBI VSX1 OVOL2 SLC4A11 COL8A2 CYP4V2 ZNF469

More info about this panel

Eye Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2

More info about this panel

Corneal Dystrophy Panel

Estonia.

By Asper Biogene Asper Biogene LLC Corneal Dystrophy that also includes the following genes: SOD1 TACSTD2 TCF4 ZEB1 TGFBI VSX1 SLC4A11 COL17A1 COL8A2 CYP4V2

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

PIKFYVE Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PIKFYVE gene.

More info about this panel

Corneal Dystrophy Panel Panel

Finland.

By Blueprint Genetics Corneal Dystrophy Panel that also includes the following genes: TACSTD2 TCF4 ZEB1 TGFBI OVOL2 SLC4A11 COL17A1 COL5A1 COL8A2 CYP4V2

More info about this panel

Corneal Dystrophy , Panel Massive Sequencing (NGS) 18 Genes Panel

Spain.

By Reference Laboratory Genetics Corneal Dystrophy , Panel Massive Sequencing (NGS) 18 Genes that also includes the following genes: TACSTD2 TCF4 ZEB1 TGFBI VSX1 SLC4A11 COL5A1 COL8A2 CYP4V2 ZNF469

More info about this panel


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