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
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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

SOURCES: OMIM ORPHANET MESH

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

SOURCES: MESH OMIM

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

SOURCES: OMIM ORPHANET

SUBMUCOSAL CLEFT PALATE



More info about SUBMUCOSAL CLEFT PALATE

SOURCES: ORPHANET


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

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

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

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

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

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

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

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

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

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

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

GRHL3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the GRHL3 gene.

More info about this panel

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


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