FGF5 gene related symptoms and diseases

All the information presented here about the FGF5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,ORPHANET,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to FGF5 gene

Symptoms // Phenotype % Cases
Cataract Uncommon - Between 30% and 50% cases
Thick eyebrow Uncommon - Between 30% and 50% cases
Hypertrichosis Uncommon - Between 30% and 50% cases
Long eyelashes Uncommon - Between 30% and 50% cases
Spherocytosis Uncommon - Between 30% and 50% cases

Rare diseases associated to FGF5 gene

Here you will find a list of rare diseases related to the FGF5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


TRICHOMEGALY; TCMGLY


Alternate names

TRICHOMEGALY; TCMGLY Is also known as eyelashes, long

Most common symptoms of TRICHOMEGALY; TCMGLY

  • Cataract
  • Thick eyebrow
  • Hypertrichosis
  • Long eyelashes
  • Spherocytosis


More info about TRICHOMEGALY; TCMGLY

SOURCES: OMIM

FAMILIAL ISOLATED TRICHOMEGALY


Description

Familial isolated trichomegaly is a rare genetic hair anomaly characterized by a prolonged anagen phase of the eyelash hairs, leading to extreme eyelash growth that may result in corneal irritation. Increased growth of hair on other parts of the face (eyebrows, cheeks, forehead) and/or the body (chest, arms, legs) may be associated.


More info about FAMILIAL ISOLATED TRICHOMEGALY

SOURCES: ORPHANET


Potential gene panels for FGF5 gene

FGF5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FGF5 gene.

More info about this panel

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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