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.
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
Search interest in GMDS
Potential gene panels for GMDS gene
GMDS Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GMDS gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like LPAR6 HCRT F2 HSD11B1 ZNF469 ACSF3 RPL31