GMDS gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to GMDS gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Short metacarpal Very Common - Between 80% and 100% cases
Straight clavicles Very Common - Between 80% and 100% cases
Type E brachydactyly Very Common - Between 80% and 100% cases
Multiple impacted teeth Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with GMDS gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Moderately short stature
  • Upper limb asymmetry
  • Ectopic calcification
  • Pseudohypoparathyroidism
  • Short clavicles
  • Short metatarsal
  • Round face
  • Short stature

And 10 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to GMDS gene

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


BRACHYDACTYLY TYPE E


Alternate names

BRACHYDACTYLY TYPE E Is also known as bde, brachydactyly, type e

Description

Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short.

Most common symptoms of BRACHYDACTYLY TYPE E

  • Intellectual disability
  • Short stature
  • Ataxia
  • Nystagmus
  • Cataract


More info about BRACHYDACTYLY TYPE E

SOURCES: MESH OMIM ORPHANET


Potential gene panels for GMDS gene

GMDS Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GMDS 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 DSCAS

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more