GRHL2 gene related symptoms and diseases
All the information presented here about the GRHL2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to GRHL2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hearing impairment | Uncommon - Between 30% and 50% cases |
| Glaucoma | Uncommon - Between 30% and 50% cases |
| Ectopia pupillae | Uncommon - Between 30% and 50% cases |
| Sensorineural hearing impairment | Uncommon - Between 30% and 50% cases |
| Edema | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with GRHL2 gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Short stature
- Chronic lung disease
- Central apnea
- Atelectasis
- Right ventricular failure
- Diaphragmatic paralysis
- Functional respiratory abnormality
- Tracheobronchomalacia
And 49 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to GRHL2 gene
Here you will find a list of rare diseases related to the GRHL2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DEAFNESS, AUTOSOMAL DOMINANT 28; DFNA28
Most common symptoms of DEAFNESS, AUTOSOMAL DOMINANT 28; DFNA28
- Hearing impairment
- Sensorineural hearing impairment
- Progressive hearing impairment
More info about DEAFNESS, AUTOSOMAL DOMINANT 28; DFNA28
POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY
Alternate names
POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY Is also known as schlichting dystrophy, corneal endothelial dystrophy 1, autosomal dominant, formerly, ppcd, ched1, formerly, posterior polymorphous dystrophy, maumenee corneal dystrophy, posterior polymorphous corneal dystrophy, corneal dystrophy, hereditary polymorphous poster
Description
Posterior polymorphous corneal dystrophy (PPCD) is a rare mild subtype of posterior corneal dystrophy (see this term) characterized by small aggregates of apparent vesicles bordered by a gray haze at the level of Descemet membrane, generally with no effect on vision.
Most common symptoms of POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY
- Edema
- Glaucoma
- Photophobia
- Corneal opacity
- Falls
More info about POSTERIOR POLYMORPHOUS CORNEAL DYSTROPHY
BRONCHOPULMONARY DYSPLASIA
Alternate names
BRONCHOPULMONARY DYSPLASIA Is also known as bpd
Description
Bronchopulmonary dysplasia is a chronic respiratory disease that results from complications related to lung injury during the treatment of infant acute respiratory distress syndrome (see these terms) in low-birth-weight premature infants or from abnormal lung development in older infants. Clinical signs are tachypnea, tachycardia and signs of respiratory distress such as intercostal recession, grunting and nasal flaring.
Most common symptoms of BRONCHOPULMONARY DYSPLASIA
- Respiratory distress
- Dyspnea
- Cough
- Small for gestational age
- Sleep disturbance
More info about BRONCHOPULMONARY DYSPLASIA
NAIL AND TEETH ABNORMALITIES-MARGINAL PALMOPLANTAR KERATODERMA-ORAL HYPERPIGMENTATION SYNDROME
Alternate names
NAIL AND TEETH ABNORMALITIES-MARGINAL PALMOPLANTAR KERATODERMA-ORAL HYPERPIGMENTATION SYNDROME Is also known as ectodermal dysplasia-short stature syndrome, short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
Description
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.
Most common symptoms of NAIL AND TEETH ABNORMALITIES-MARGINAL PALMOPLANTAR KERATODERMA-ORAL HYPERPIGMENTATION SYNDROME
- Short stature
- Hearing impairment
- Sensorineural hearing impairment
- Dysphagia
- Abnormality of the dentition
More info about NAIL AND TEETH ABNORMALITIES-MARGINAL PALMOPLANTAR KERATODERMA-ORAL HYPERPIGMENTATION SYNDROME
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4; PPCD4
Description
PPCD4 is characterized by an irregular posterior corneal surface with occasional opacities of variable size and shape. There is inter- and intrafamilial as well as intraindividual variability. Symptoms can include blurred vision due to corneal edema, reduced visual acuity, secondary glaucoma, and corectopia; some affected individuals are asymptomatic. Rare patients have undergone enucleation for painful eye (Liskova et al., 2018).For a discussion of genetic heterogeneity of PPCD, see {122000}.
Most common symptoms of CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4; PPCD4
- Hearing impairment
- Edema
- Glaucoma
- Reduced visual acuity
- Ectodermal dysplasia
More info about CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4; PPCD4
SOURCES: OMIM
AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA
Alternate names
AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA Is also known as autosomal dominant non-syndromic sensorineural hearing loss type dfna, autosomal dominant isolated sensorineural deafness type dfna, autosomal dominant isolated sensorineural hearing loss type dfna, autosomal dominant isolated neurosensory deafness type dfna
More info about AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA
SOURCES: ORPHANET
Search interest in GRHL2
Potential gene panels for GRHL2 gene
Hearing Loss Advanced Sequencing and CNV Evaluation Panel
United States.
By Athena Diagnostics Inc Hearing Loss Advanced Sequencing and CNV Evaluation that also includes the following genes: BCS1L ROR1 SALL1 SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SLC22A4 SNAI2
More info about this panel United States.
NGS Hearing Loss Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Hearing Loss Panel that also includes the following genes: SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TJP2 TMPRSS3 USH1C USH2A
More info about this panel United States.
OtoSCOPE Panel
United States.
By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics OtoSCOPE that also includes the following genes: ROR1 SIX1 SIX5 SLC22A4 SNAI2 SMPX SOX10 TBX1 TWNK TCOF1
More info about this panel United States.
Hearing Loss Panel Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Hearing Loss Panel that also includes the following genes: RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10 BTD
More info about this panel United States.
GRHL2 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the GRHL2 gene.
More info about this panel Germany.
OtoGenome Test for Hearing Loss (110 Genes) Panel
United States.
By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine OtoGenome Test for Hearing Loss (110 Genes) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TECTA TIMM8A TMPRSS3 USH1C USH2A
More info about this panel United States.
Expanded Hearing Loss Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Expanded Hearing Loss Panel, Sequencing and Deletion/Duplication that also includes the following genes: SMPX TECTA TMPRSS3 USH1C USH2A CLRN1 WFS1 ESPN CDH23 ACTG1
More info about this panel United States.
Audiome (hearing loss panel) Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Audiome (hearing loss panel) that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 SUCLA2 TECTA TIMM8A TMPRSS3 USH1C
More info about this panel United States.
Deafness, autosomal dominant 28 (sequence analysis of GRHL2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the GRHL2 gene.
More info about this panel Portugal.
Non syndromic deafness AD (NGS panel for 33 genes) Panel
Portugal.
By CGC Genetics Non syndromic deafness AD (NGS panel for 33 genes) that also includes the following genes: SIX1 TECTA TJP2 WFS1 ACTG1 DIAPH3 TMC1 TMC2 CCDC50 SLC17A8
More info about this panel Portugal.
Syndromic and non syndromic deafness (NGS panel for 127 genes) Panel
Portugal.
By CGC Genetics Syndromic and non syndromic deafness (NGS panel for 127 genes) that also includes the following genes: SEMA3E SIX1 SIX5 SLC12A1 SLC19A2 SNAI2 SMPX SOX10 TCOF1 TECTA
More info about this panel Portugal.
Non syndromic deafness AD, AR and XL (NGS panel for 79 genes) Panel
Portugal.
By CGC Genetics Non syndromic deafness AD, AR and XL (NGS panel for 79 genes) that also includes the following genes: SIX1 SLC12A1 SMPX TECTA TJP2 TMPRSS3 USH1C TSPEAR WFS1 ESPN
More info about this panel Portugal.
Nonsyndromic Hearing Loss and Deafness Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Nonsyndromic Hearing Loss and Deafness Sequencing Panel with CNV Detection that also includes the following genes: SMPX TECTA TJP2 TMPRSS3 OTOA TMC1 TRIOBP CCDC50 GIPC3 SLC17A8
More info about this panel United States.
Ectodermal Dysplasia/Short Stature Syndrome and Deafness, Autosomal Dominant 28 (DFNA28) via GRHL2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the GRHL2 gene.
More info about this panel United States.
DFNA28 Nonsyndromic Hearing Loss and Deafness Panel
Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the GRHL2 gene.
More info about this panel Germany.
Deafness, autosomal dominant type 28 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the GRHL2 gene.
More info about this panel Germany.
Hearing Loss, nonsyndromic, autosomal dominant and X-linked Panel Panel
Germany.
By CeGaT GmbH Hearing Loss, nonsyndromic, autosomal dominant and X-linked Panel that also includes the following genes: SMPX TECTA TJP2 WFS1 ACTG1 DIAPH3 TMC1 TMC2 CCDC50 SLC17A8
More info about this panel Germany.
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel Panel
Germany.
By CeGaT GmbH Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel that also includes the following genes: BCS1L SNRPE SOX18 ST14 TRPS1 IFT122 WNT10A EDARADD SHOC2 LPAR6
More info about this panel Germany.
Sensorineural Hearing Loss Panel
Estonia.
By Asper Biogene Asper Biogene LLC Sensorineural Hearing Loss that also includes the following genes: SIX1 SMPX TECTA TJP2 TMPRSS3 USH1C USH2A CLRN1 WFS1 ESPN
More info about this panel Estonia.
DEAFNESS A.D. Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DEAFNESS A.D. that also includes the following genes: TECTA TJP2 WFS1 ACTG1 TMC1 CCDC50 SLC17A8 COCH COL11A2 MYH14
More info about this panel Spain.
DEAFNESS A.D. and A.R. Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases DEAFNESS A.D. and A.R. that also includes the following genes: TECTA TJP2 TMPRSS3 USH1C WFS1 CDH23 ACTG1 PCDH15 WHRN BSND
More info about this panel Spain.
Hearing Loss: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Sequencing Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SIX5 SMPX SOX10 BTD TCOF1 TECTA TIMM8A
More info about this panel United States.
Hearing Loss: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hearing Loss: Deletion/Duplication Panel that also includes the following genes: RPS6KA3 SALL1 SIX1 SMPX BTD TECTA TIMM8A TJP2 TMPRSS3 USH1C
More info about this panel United States.
Hearing Loss NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Hearing Loss NGS Panel that also includes the following genes: BCS1L SIX1 SNAI2 SMPX SOX10 TBL1X TCF21 TECTA TIMM8A TJP2
More info about this panel United States.
GRHL2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the GRHL2 gene.
More info about this panel United States.
Comprehensive Hearing Loss and Deafness Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hearing Loss and Deafness Panel that also includes the following genes: BCS1L RPS6KA3 SALL1 SEMA3E SIX1 SIX5 SLC19A2 SNAI2 SMPX SOX10
More info about this panel Finland.
Non-Syndromic Hearing Loss Panel Panel
Finland.
By Blueprint Genetics Non-Syndromic Hearing Loss Panel that also includes the following genes: SIX1 SMPX TECTA TJP2 TMPRSS3 USH1C TSPEAR WBP2 WFS1 ESPN
More info about this panel Finland.
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel Panel
United States.
By Otogenetics Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel that also includes the following genes: BCS1L SIX1 SIX5 SNAI2 SMPX SOX2 TBL1X TCF21 TECTA TFCP2
More info about this panel United States.
DYSKERATOSIS CONGENITA Panel
Spain.
By Laboratorio de Genetica Clinica SL DYSKERATOSIS CONGENITA that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 WRAP53 USB1 CTC1 GRHL2
More info about this panel Spain.
DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL DOMINANT) NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL DEAFNESS, NONSYNDROMIC SENSORINEURAL (AUTOSOMAL DOMINANT) NGS PANEL that also includes the following genes: SIX1 SMPX TECTA TJP2 WFS1 ACTG1 P2RX2 DIAPH3 OSBPL2 CD164
More info about this panel Spain.
Autosomal Dominant Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 31 Genes Panel
Spain.
By Reference Laboratory Genetics Autosomal Dominant Hereditary Hearing Loss/Deafness , Panel Massive Sequencing (NGS) 31 Genes that also includes the following genes: SIX1 TECTA TJP2 WFS1 ACTG1 TMC1 HOMER2 CCDC50 SLC17A8 COCH
More info about this panel Spain.
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