GPC6 gene related symptoms and diseases

All the information presented here about the GPC6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to GPC6 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 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 gene

Here you will find a list of rare diseases related to the GPC6. 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


Potential gene panels for GPC6 gene

GPC6- Omodysplasia 1 Panel

Switzerland.

By Centre of Molecular Diseases (CMM) CHUV

This panel specifically test the GPC6 gene.

More info about this panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4

More info about this panel

Omodysplasia Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Omodysplasia Comprehensive panel that also includes the following genes: FZD2 GPC6

More info about this panel

Omodysplasia NGS panel Panel

United States.

By Connective Tissue Gene Tests Omodysplasia NGS panel that also includes the following genes: FZD2 GPC6

More info about this panel

Omodysplasia Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Omodysplasia Deletion / Duplication panel that also includes the following genes: FZD2 GPC6

More info about this panel

Omodysplasia type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the GPC6 gene.

More info about this panel

Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel Panel

Germany.

By CeGaT GmbH Micromelic dysplasia: acromelic, acromesomelic, mesomelic and rhizo-mesomelic dysplasia Panel that also includes the following genes: ROR2 TRPS1 WNT5A IFT122 ADAMTSL2 DDR2 IFT140 WDR35 ZSWIM6 IFT43

More info about this panel

Disproportionate Short Stature: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Sequencing Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TBX6 TRIP11

More info about this panel

Skeletal Dysplasia: Sequencing Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2

More info about this panel

Disproportionate Short Stature: Deletion/Duplication Panel Panel

United States.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Disproportionate Short Stature: Deletion/Duplication Panel that also includes the following genes: ROR2 RUNX2 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TBCE TRIP11 TRPS1

More info about this panel

Skeletal Dysplasias NGS panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1

More info about this panel

GPC6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GPC6 gene.

More info about this panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX

More info about this panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel

CEN4GEN Colorectal cancer: Extended Sequencing Panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN Colorectal cancer: Extended Sequencing Panel that also includes the following genes: BRAF TCF7L2 TGFBR2 TP53 CASP8 TCERG1 GALNT17 FBXW7 ACVR1B CDC27

More info about this panel


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