PRSS56 gene related symptoms and diseases

All the information presented here about the PRSS56 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 PRSS56 gene

Symptoms // Phenotype % Cases
Strabismus Very Common - Between 80% and 100% cases
High hypermetropia Very Common - Between 80% and 100% cases
Microphthalmia Very Common - Between 80% and 100% cases
Glaucoma Very Common - Between 80% and 100% cases
Abnormality of retinal pigmentation Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with PRSS56 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Asteroid hyalosis
  • Venous occlusion
  • Scleral thickening
  • Vascular tortuosity
  • Shallow anterior chamber
  • Retinal vascular tortuosity
  • Retinal fold
  • Amblyopia

And 10 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to PRSS56 gene

Here you will find a list of rare diseases related to the PRSS56. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


MICROPHTHALMIA, ISOLATED 6; MCOP6

Alternate names

MICROPHTHALMIA, ISOLATED 6; MCOP6 Is also known as microphthalmia, posterior nonsyndromic

Description

Autosomal recessive isolated posterior microphthalmos defines a rare distinct phenotype restricted to the posterior segment of the eye. In adults, it is clinically characterized by extreme hyperopia (from +7.5 to +21 diopters) due to short axial length (14 mm to 20 mm; normal is greater than 21 mm). Other features include an essentially normal anterior segment, steep corneal curvatures, shallow anterior chamber, thick lenses, and thickened scleral wall. The palpebral fissures appear narrow because of relatively deep-set eyes, visual acuity is mildly to moderately reduced, and anisometropic or strabismic amblyopia is common. The fundus of the eye shows crowded optical discs, tortuous vessels, and an abnormal foveal avascular zone; in addition, papillomacular folds are often reported. Morphometric features of the small eyes predispose to complications such as narrow-angle glaucoma and uveal effusion (summary by Gal et al., 2011).

Most common symptoms of MICROPHTHALMIA, ISOLATED 6; MCOP6

  • Strabismus
  • Cataract
  • Blindness
  • Microphthalmia
  • Depressivity


More info about MICROPHTHALMIA, ISOLATED 6; MCOP6

SOURCES: OMIM

NANOPHTHALMIA

Description

Nanophthalmia is a severe form of microphthalmia characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma.

Most common symptoms of NANOPHTHALMIA

  • Strabismus
  • Microphthalmia
  • Glaucoma
  • Abnormality of retinal pigmentation
  • High hypermetropia


More info about NANOPHTHALMIA

SOURCES: ORPHANET


Potential gene panels for PRSS56 gene

Anophthalmia/microphthalmia Panel

Denmark.

By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet Anophthalmia/microphthalmia that also includes the following genes: BMP4 SIX6 SOX2 TFAP2A VAX1 ALX1 PORCN MFRP RAX VSX2

More info about this panel
Denmark.

PRSS56. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the PRSS56 gene.

More info about this panel
Spain.

Microphthalmia (NGS panel for 26 genes) Panel

Portugal.

By CGC Genetics Microphthalmia (NGS panel for 26 genes) that also includes the following genes: BMP4 SHH SIX6 SOX2 VAX1 MFRP RAX NAA10 VSX2 SMOC1

More info about this panel
Portugal.

Posterior Microphthalmia via PRSS56 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the PRSS56 gene.

More info about this panel
United States.

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
Germany.

Microphthalmia-Anophthalmia-Coloboma Complex (MAC) Panel

Germany.

By MGZ Medical Genetics Center Microphthalmia-Anophthalmia-Coloboma Complex (MAC) that also includes the following genes: SALL2 BMP4 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A TGIF1 VAX1

More info about this panel
Germany.

Microphthalmia, isolated type 6 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PRSS56 gene.

More info about this panel
Germany.

Microphthalmy Panel Panel

Germany.

By CeGaT GmbH Microphthalmy Panel that also includes the following genes: BMP4 SHH SIX6 SOX2 VAX1 MFRP RAX NAA10 VSX2 SMOC1

More info about this panel
Germany.

Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis Panel

Estonia.

By Asper Biogene Asper Biogene LLC Anophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis that also includes the following genes: BMP4 SIX6 SOX2 VAX1 VSX1 MFRP RAX VSX2 B3GLCT SMOC1

More info about this panel
Estonia.

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
Estonia.

Developmental Eye Disease panel Panel

United States.

By Molecular Vision Laboratory Developmental Eye Disease panel that also includes the following genes: BMP4 SHH SIX3 SIX6 SLC25A1 SNX3 SOX2 SOX3 ELP4 VAX1

More info about this panel
United States.

Invitae Microphthalmia/Anophthalmia Disorders Panel Panel

United States.

By Invitae Invitae Microphthalmia/Anophthalmia Disorders Panel that also includes the following genes: BMP4 SHH SOX2 PXDN MFRP RAX VSX2 BCOR STRA6 FOXE3

More info about this panel
United States.

Glaucoma Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Glaucoma that also includes the following genes: RPGRIP1 OPTN ASB10 OLFM2 MFRP VSX2 COL8A2 CYP1B1 SH3PXD2B WDR36

More info about this panel
Spain.

Glaucoma (Advance) Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Glaucoma (Advance) that also includes the following genes: RPS19 SLC4A4 TTR BEST1 RPGRIP1 CA4 ACVR1 OPTN ASB10 OLFM2

More info about this panel
Spain.

PRSS56 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PRSS56 gene.

More info about this panel
United States.

Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel Panel

Finland.

By Blueprint Genetics Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel that also includes the following genes: BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A ZIC2 PXDN

More info about this panel
Finland.

Isolated anophthalmia - microphthalmia type 5 Panel

Spain.

By Bioarray

This panel specifically test the PRSS56 gene.

More info about this panel
Spain.

ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL that also includes the following genes: SALL1 SALL2 BMP4 SHH SIX6 SOX2 PXDN MFRP RAX NAA10

More info about this panel
Spain.

Glaucoma , Panel Massive Sequencing (NGS) 17 Genes Panel

Spain.

By Reference Laboratory Genetics Glaucoma , Panel Massive Sequencing (NGS) 17 Genes that also includes the following genes: RPGRIP1 OPTN ASB10 MFRP VSX2 COL8A2 CYP1B1 SH3PXD2B WDR36 FOXC1

More info about this panel
Spain.

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