PRPF4 gene related symptoms and diseases

All the information presented here about the PRPF4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PRPF4 gene

Symptoms // Phenotype % Cases
Cataract Very Common - Between 80% and 100% cases
Blindness Very Common - Between 80% and 100% cases
Abnormality of the retinal vasculature Uncommon - Between 30% and 50% cases
Abnormality of the testis Uncommon - Between 30% and 50% cases
Atypical scarring of skin Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with PRPF4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Keratoconus
  • Hyperinsulinemia
  • Abnormal electroretinogram
  • Abnormality of retinal pigmentation
  • Type II diabetes mellitus
  • Hypoplasia of penis
  • Ophthalmoplegia
  • Conductive hearing impairment

And 20 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to PRPF4 gene

Here you will find a list of rare diseases related to the PRPF4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


RETINITIS PIGMENTOSA 70; RP70


Most common symptoms of RETINITIS PIGMENTOSA 70; RP70

  • Cataract
  • Blindness
  • Rod-cone dystrophy
  • Reduced visual acuity
  • Pallor


More info about RETINITIS PIGMENTOSA 70; RP70

SOURCES: OMIM

RETINITIS PIGMENTOSA


Description

Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.

Most common symptoms of RETINITIS PIGMENTOSA

  • Intellectual disability
  • Nystagmus
  • Sensorineural hearing impairment
  • Cataract
  • Visual impairment


More info about RETINITIS PIGMENTOSA

SOURCES: ORPHANET


Potential gene panels for PRPF4 gene

Retinitis Pigmentosa Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A

More info about this panel

PRPF4 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the PRPF4 gene.

More info about this panel

Retinitis pigmentosa (NGS panel for 72 genes) Panel

Portugal.

By CGC Genetics Retinitis pigmentosa (NGS panel for 72 genes) that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A

More info about this panel

Retinitis pigmentosa, AD and X-linked (NGS panel for 27 genes) Panel

Portugal.

By CGC Genetics Retinitis pigmentosa, AD and X-linked (NGS panel for 27 genes) that also includes the following genes: RHO ROM1 RP1 RP2 RP9 RPE65 RPGR SEMA4A BEST1 CA4

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

Retinitis pigmentosa, autosomal dominant and X-linked Panel Panel

Germany.

By CeGaT GmbH Retinitis pigmentosa, autosomal dominant and X-linked Panel that also includes the following genes: RHO ROM1 RP1 RP2 RP9 RPE65 RPGR SEMA4A SPP2 BEST1

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

PRPF4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PRPF4 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

Retinitis Pigmentosa Panel Panel

Finland.

By Blueprint Genetics Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 SAG CWC27

More info about this panel

RETINITIS PIGMENTOSA NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL RETINITIS PIGMENTOSA NGS PANEL that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A

More info about this panel


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