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
Search interest in PRSS56
Potential gene panels for PRSS56 gene
Anophthalmia/microphthalmia Panel
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 panelPRSS56. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the PRSS56 gene.
More info about this panelMicrophthalmia (NGS panel for 26 genes) Panel
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 panelPosterior Microphthalmia via PRSS56 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the PRSS56 gene.
More info about this panelEye Diseases - panels Panel
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 panelMicrophthalmia-Anophthalmia-Coloboma Complex (MAC) Panel
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 panelMicrophthalmia, isolated type 6 Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the PRSS56 gene.
More info about this panelMicrophthalmy Panel Panel
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 panelAnophthalmia/Microphthalmia/Coloboma/Anterior Segment Dysgenesis Panel
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 panelEye diseases comprehensive panel Panel
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 panelDevelopmental Eye Disease panel Panel
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 panelInvitae Microphthalmia/Anophthalmia Disorders Panel Panel
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 panelGlaucoma Panel
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 panelGlaucoma (Advance) Panel
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 panelPRSS56 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PRSS56 gene.
More info about this panelMicrophthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel Panel
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 panelIsolated anophthalmia - microphthalmia type 5 Panel
By Bioarray
This panel specifically test the PRSS56 gene.
More info about this panelANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL Panel
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 panelGlaucoma , Panel Massive Sequencing (NGS) 17 Genes Panel
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
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