OVOL2 gene related symptoms and diseases

All the information presented here about the OVOL2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,OMIM,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to OVOL2 gene

Symptoms // Phenotype % Cases
Edema Uncommon - Between 30% and 50% cases
Anterior synechiae of the anterior chamber Uncommon - Between 30% and 50% cases
Neoplasm of the skin Uncommon - Between 30% and 50% cases
Carcinoma Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with OVOL2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Polymorphous posterior corneal dystrophy
  • Abnormal Descemet membrane morphology
  • Uveal ectropion
  • Thinning of Descemet membrane
  • Corneal stromal edema
  • Band keratopathy
  • Iris atrophy
  • Ectopia pupillae

And 12 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to OVOL2 gene

Here you will find a list of rare diseases related to the OVOL2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY


Alternate names

POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY Is also known as schlichting dystrophy, corneal endothelial dystrophy 1, autosomal dominant, formerly, ppcd, ched1, formerly, posterior polymorphous dystrophy, maumenee corneal dystrophy, posterior polymorphous corneal dystrophy, corneal dystrophy, hereditary polymorphous poster

Description

Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy (see this term) characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.

Most common symptoms of POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY

  • Edema
  • Glaucoma
  • Photophobia
  • Corneal opacity
  • Falls


More info about POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY

SOURCES: OMIM ORPHANET

PILOMATRIXOMA


Alternate names

PILOMATRIXOMA Is also known as epithelioma calcificans of malherbe, pilomatricoma, ptr

Description

Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome (see these terms).

Most common symptoms of PILOMATRIXOMA

  • Neoplasm
  • Carcinoma
  • Neoplasm of the skin
  • Pilomatrixoma


More info about PILOMATRIXOMA

SOURCES: ORPHANET MESH OMIM

CONGENITAL HEREDITARY ENDOTHELIAL DYSTROPHY TYPE I


Alternate names

CONGENITAL HEREDITARY ENDOTHELIAL DYSTROPHY TYPE I Is also known as autosomal dominant congenital hereditary endothelial dystrophy, chedi, autosomal dominant ched, ched1, congenital hereditary endothelial dystrophy type 1

Description

Congenital hereditary endothelial dystrophy I (CHED I) is a rare subtype of posterior corneal dystrophy (see this term) characterized by a diffuse ground-glass appearance of the corneas and marked corneal thickening from birth or infancy without nystagmus, with blurred vision.


More info about CONGENITAL HEREDITARY ENDOTHELIAL DYSTROPHY TYPE I

SOURCES: ORPHANET


Potential gene panels for OVOL2 gene

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 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

Posterior Polymorphous Corneal Dystrophy , Panel Massive Sequencing (NGS) OVOL2, COL8A2, ZEB1 Panel

Spain.

By Reference Laboratory Genetics Posterior Polymorphous Corneal Dystrophy , Panel Massive Sequencing (NGS) OVOL2, COL8A2, ZEB1 that also includes the following genes: ZEB1 OVOL2 COL8A2

More info about this panel


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