GLDN gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to GLDN gene

Symptoms // Phenotype % Cases
Flexion contracture Very Common - Between 80% and 100% cases
Talipes equinovarus Very Common - Between 80% and 100% cases
Polyhydramnios Very Common - Between 80% and 100% cases
Retrognathia Very Common - Between 80% and 100% cases
Camptodactyly Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with GLDN gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Arthrogryposis multiplex congenita
  • Pulmonary hypoplasia
  • Decreased fetal movement
  • Congenital contracture
  • Akinesia
  • Bilateral talipes equinovarus
  • Fetal akinesia sequence
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to GLDN gene

Here you will find a list of rare diseases related to the GLDN. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


LETHAL CONGENITAL CONTRACTURE SYNDROME 11; LCCS11


Most common symptoms of LETHAL CONGENITAL CONTRACTURE SYNDROME 11; LCCS11

  • Flexion contracture
  • Talipes equinovarus
  • Polyhydramnios
  • Retrognathia
  • Camptodactyly


More info about LETHAL CONGENITAL CONTRACTURE SYNDROME 11; LCCS11

SOURCES: OMIM


Potential gene panels for GLDN gene

Congenital Contractures Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Congenital Contractures Panel that also includes the following genes: SKI SLC18A3 TNNI2 TNNT3 TPM2 TPM3 UBA1 ZMPSTE24 ACTA1 ADGRG6

More info about this panel

Congenital contracture syndrome extended NGS panel Panel

United States.

By Connective Tissue Gene Tests Congenital contracture syndrome extended NGS panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1

More info about this panel

Congenital contracture syndrome extended Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Congenital contracture syndrome extended Comprehensive panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1

More info about this panel

Congenital contracture syndrome extended Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Congenital contracture syndrome extended Deletion / Duplication panel that also includes the following genes: TNNI2 TNNT3 TPM2 VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 NALCN CHRNA1

More info about this panel

Lethal congenital contracture syndrome and related disorders Comprehensive Panel Panel

United States.

By Connective Tissue Gene Tests Lethal congenital contracture syndrome and related disorders Comprehensive Panel that also includes the following genes: VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 CHRNA1 CHRND CHRNG VIPAS39 ADCY6

More info about this panel

Lethal congenital contracture syndrome and related disorders NGS Panel Panel

United States.

By Connective Tissue Gene Tests Lethal congenital contracture syndrome and related disorders NGS Panel that also includes the following genes: VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 CHRNA1 CHRND CHRNG VIPAS39 ADCY6

More info about this panel

Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel Panel

United States.

By Connective Tissue Gene Tests Lethal congenital contracture syndrome and related disorders Deletion / Duplication Panel that also includes the following genes: VPS33B ZMPSTE24 ADGRG6 NEK9 LGI4 CHRNA1 CHRND CHRNG VIPAS39 ADCY6

More info about this panel

GLDN Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GLDN gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TRB IFNG

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more