MIR204 gene related symptoms and diseases

All the information presented here about the MIR204 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to MIR204 gene

Symptoms // Phenotype % Cases
Cataract Very Common - Between 80% and 100% cases
Visual loss Very Common - Between 80% and 100% cases
Reduced visual acuity Very Common - Between 80% and 100% cases
Coloboma Very Common - Between 80% and 100% cases
Retinopathy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with MIR204 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Congenital cataract
  • Iris coloboma
  • Retinal dystrophy
  • Retinal atrophy
  • Posterior synechiae of the anterior chamber

Rare diseases associated to MIR204 gene

Here you will find a list of rare diseases related to the MIR204. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FAMILIAL PROGRESSIVE RETINAL DYSTROPHY-IRIS COLOBOMA-CONGENITAL CATARACT SYNDROME

Most common symptoms of FAMILIAL PROGRESSIVE RETINAL DYSTROPHY-IRIS COLOBOMA-CONGENITAL CATARACT SYNDROME

  • Cataract
  • Visual loss
  • Reduced visual acuity
  • Coloboma
  • Retinopathy


More info about FAMILIAL PROGRESSIVE RETINAL DYSTROPHY-IRIS COLOBOMA-CONGENITAL CATARACT SYNDROME

SOURCES: ORPHANET OMIM


Potential gene panels for MIR204 gene

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
United States.

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
United States.

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
United States.

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