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
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
Search interest in GLDN
Potential gene panels for GLDN gene
Congenital Contractures Panel Panel
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 panelCongenital contracture syndrome extended NGS panel Panel
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 panelCongenital contracture syndrome extended Comprehensive panel Panel
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 panelCongenital contracture syndrome extended Deletion / Duplication panel Panel
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 panelLethal congenital contracture syndrome and related disorders Comprehensive Panel Panel
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 panelLethal congenital contracture syndrome and related disorders NGS Panel Panel
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 panelLethal congenital contracture syndrome and related disorders Deletion / Duplication Panel Panel
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 panelGLDN Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GLDN gene.
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