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  1. Mendelian
  2. Rare Disease Genes
  3. GPC6-AS2

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.

Table of contents:

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

SOURCES: OMIM ORPHANET

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