OVOL1 gene related symptoms and diseases

All the information presented here about the OVOL1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to OVOL1 gene

Symptoms // Phenotype % Cases
Neoplasm Very Common - Between 80% and 100% cases
Carcinoma Very Common - Between 80% and 100% cases
Neoplasm of the skin Very Common - Between 80% and 100% cases
Pilomatrixoma Very Common - Between 80% and 100% cases

Rare diseases associated to OVOL1 gene

Here you will find a list of rare diseases related to the OVOL1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


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


Potential gene panels for OVOL1 gene

OVOL1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the OVOL1 gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like RBX1

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