GRHL3 gene related symptoms and diseases
All the information presented here about the GRHL3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GRHL3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Cleft palate | Uncommon - Between 30% and 50% cases |
| Cleft upper lip | Uncommon - Between 30% and 50% cases |
| Cleft lip | Uncommon - Between 30% and 50% cases |
| Cleft soft palate | Rare - less than 30% cases |
| Hypodontia | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with GRHL3 gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Abnormal salivary gland morphology
- Lip pit
- Lower lip pit
- Cerebral palsy
- Anodontia
- Bifid uvula
- Submucous cleft soft palate
- Nasal, dysarthic speech
Rare diseases associated to GRHL3 gene
Here you will find a list of rare diseases related to the GRHL3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CLEFT VELUM
Alternate names
CLEFT VELUM Is also known as cleft soft palate, cleft velum palatinum
Description
Cleft velum is a fissure type embryopathy that affects in varying degrees the soft palate.
Most common symptoms of CLEFT VELUM
- Cleft soft palate
More info about CLEFT VELUM
VAN DER WOUDE SYNDROME
Alternate names
VAN DER WOUDE SYNDROME Is also known as cleft lip/palate with mucous cysts of lower lip, lip-pit syndrome, vws
Description
Van der Woude syndrome (VWS) is a rare congenital genetic dysmorphic syndrome characterized by paramedian lower-lip fistulae, cleft lip with or without cleft palate, or isolated cleft palate.
Most common symptoms of VAN DER WOUDE SYNDROME
- Cleft palate
- Cleft upper lip
- Hypodontia
- Abnormal salivary gland morphology
- Lip pit
More info about VAN DER WOUDE SYNDROME
SOURCES: ORPHANET
VAN DER WOUDE SYNDROME 2; VWS2
Description
Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome.For a discussion of genetic heterogeneity of van der Woude syndrome, see VWS1 (OMIM ).
Most common symptoms of VAN DER WOUDE SYNDROME 2; VWS2
- Cleft palate
- Cleft lip
- Cleft upper lip
- Cerebral palsy
- Anodontia
More info about VAN DER WOUDE SYNDROME 2; VWS2
CLEFT HARD PALATE
BIFID UVULA
Alternate names
BIFID UVULA Is also known as bifidity of the uvula, uvula, cleft, uvular cleft
Description
Bifid uvula is a fissure type embryopathy affecting the uvula at the back of the soft palate.
Most common symptoms of BIFID UVULA
- Cleft lip
- Bifid uvula
- Submucous cleft soft palate
- Nasal, dysarthic speech
More info about BIFID UVULA
SUBMUCOSAL CLEFT PALATE
Search interest in GRHL3
Potential gene panels for GRHL3 gene
Van der Woude syndrome 2 (sequence analysis of GRHL3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GRHL3 gene.
More info about this panel Portugal.
Van der Woude Syndrome (VWS) via GRHL3 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the GRHL3 gene.
More info about this panel United States.
Cleft lip, cleft palate and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Cleft lip, cleft palate and related disorders NGS panel that also includes the following genes: BMP4 TBX22 SUMO1 TP63 TGDS SATB2 COL11A1 COL11A2 COL9A1 COL9A2
More info about this panel United States.
Cleft lip, cleft palate and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Cleft lip, cleft palate and related disorders Deletion / Duplication panel that also includes the following genes: BMP4 TBX22 SUMO1 TP63 TGDS SATB2 COL11A1 COL11A2 COL9A1 COL9A2
More info about this panel United States.
Cleft lip, cleft palate and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Cleft lip, cleft palate and related disorders Comprehensive panel that also includes the following genes: BMP4 TBX22 SUMO1 TP63 TGDS SATB2 COL11A1 COL11A2 COL9A1 COL9A2
More info about this panel United States.
Van der Woude syndrome Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Van der Woude syndrome Comprehensive panel that also includes the following genes: GRHL3 IRF6
More info about this panel United States.
Van der Woude syndrome NGS panel Panel
United States.
By Connective Tissue Gene Tests Van der Woude syndrome NGS panel that also includes the following genes: GRHL3 IRF6
More info about this panel United States.
Van der Woude syndrome Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Van der Woude syndrome Deletion / Duplication panel that also includes the following genes: GRHL3 IRF6
More info about this panel United States.
Van der Woude Syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GRHL3 gene.
More info about this panel Germany.
qGenEx Craniofacial Anomalies Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3
More info about this panel Spain.
Invitae van der Woude Syndrome Panel Panel
United States.
By Invitae Invitae van der Woude Syndrome Panel that also includes the following genes: GRHL3 IRF6
More info about this panel United States.
GRHL3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GRHL3 gene.
More info about this panel United States.
Cleft Lip/Palate and Associated Syndromes Panel Panel
Finland.
By Blueprint Genetics Cleft Lip/Palate and Associated Syndromes Panel that also includes the following genes: TBX22 KDM6A TP63 TGDS SATB2 COL11A1 COL11A2 COL9A1 COL9A2 COL9A3
More info about this panel Finland.
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