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.

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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). Genetic Heterogeneity of OmodysplasiaIn an autosomal dominant form of omodysplasia (OMOD2 ), abnormalities are limited to the upper limbs. The facial changes and typical growth defect of the distal humerus with complex deformity of the elbows appear to be similar in both entities (Baxova et al., 1994).

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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