1. Mendelian
  2. Rare Disease Genes
  3. FRG1

FRG1 gene related symptoms and diseases

All the information presented here about the FRG1 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.

Table of contents:

Top 5 symptoms and clinical features associated to FRG1 gene

Symptoms // Phenotype % Cases
Sensorineural hearing impairment Very Common - Between 80% and 100% cases
Skeletal muscle atrophy Very Common - Between 80% and 100% cases
Abnormality of cardiovascular system morphology Very Common - Between 80% and 100% cases
Elevated serum creatine phosphokinase Very Common - Between 80% and 100% cases
Hyperlordosis Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with FRG1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • EMG abnormality
  • Mask-like facies
  • Palpebral edema
  • Abnormal eyelash morphology
  • Abnormality of the retinal vasculature

Rare diseases associated to FRG1 gene

Here you will find a list of rare diseases related to the FRG1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


FACIOSCAPULOHUMERAL DYSTROPHY

Alternate names

FACIOSCAPULOHUMERAL DYSTROPHY Is also known as fsh dystrophy, fshd, landouzy-dejerine myopathy, facioscapulohumeral muscular dystrophy, facioscapulohumeral myopathy

Description

Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles.

Most common symptoms of FACIOSCAPULOHUMERAL DYSTROPHY

  • Sensorineural hearing impairment
  • Skeletal muscle atrophy
  • Abnormality of cardiovascular system morphology
  • Elevated serum creatine phosphokinase
  • Hyperlordosis


More info about FACIOSCAPULOHUMERAL DYSTROPHY

SOURCES: ORPHANET


Potential gene panels for FRG1 gene

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel
Germany.

FRG1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FRG1 gene.

More info about this panel
United States.

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