GPC6-AS2 gene related symptoms and diseases
All the information presented here about the GPC6-AS2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GPC6-AS2 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Very Common - Between 80% and 100% cases |
Short columella | Very Common - Between 80% and 100% cases |
Narrow palpebral fissure | Very Common - Between 80% and 100% cases |
Hemangioma | Very Common - Between 80% and 100% cases |
Disproportionate short-limb short stature | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with GPC6-AS2 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Pterygium
- Elbow dislocation
- Mesomelia
- Limited elbow extension
- Dislocated radial head
- Short humerus
- Fibular hypoplasia
- Pulmonary artery stenosis
And 48 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GPC6-AS2 gene
Here you will find a list of rare diseases related to the GPC6-AS2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AUTOSOMAL RECESSIVE OMODYSPLASIA
Alternate names
AUTOSOMAL RECESSIVE OMODYSPLASIA Is also known as omodysplasia, generalized form, micromelic dysplasia-dislocation of radius syndrome, omodysplasia, autosomal recessive, micromelic dysplasia, congenital, with dislocation of radius
Description
Omodysplasia-1 (OMOD1) is a rare autosomal recessive skeletal dysplasia characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance. Typical facial features include a prominent forehead, frontal bossing, short nose with a depressed broad bridge, short columella, anteverted nostrils, long philtrum, and small chin. Variable findings are cryptorchidism, hernias, congenital heart defects, and cognitive delay (Elcioglu et al., 2004; Albano et al., 2007).
Most common symptoms of AUTOSOMAL RECESSIVE OMODYSPLASIA
- Intellectual disability
- Global developmental delay
- Short stature
- Micrognathia
- Cryptorchidism
More info about AUTOSOMAL RECESSIVE OMODYSPLASIA
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