IRF6 gene related symptoms and diseases
All the information presented here about the IRF6 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to IRF6 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Cleft palate | Common - Between 50% and 80% cases |
| Cleft upper lip | Uncommon - Between 30% and 50% cases |
| Bifid scrotum | Uncommon - Between 30% and 50% cases |
| Hypoplastic labia majora | Uncommon - Between 30% and 50% cases |
| Ankyloblepharon | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with IRF6 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Popliteal pterygium
- Fibrous syngnathia
- Toe syndactyly
- Scrotal hypoplasia
- Cryptorchidism
- Micrognathia
- Lower lip pit
- Lip pit
And 50 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to IRF6 gene
Here you will find a list of rare diseases related to the IRF6. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
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
AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM SYNDROME
Alternate names
AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM SYNDROME Is also known as facio-genito-popliteal syndrome, popliteal web syndrome
Description
Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.
Most common symptoms of AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM SYNDROME
- Scoliosis
- Micrognathia
- Cleft palate
- Cryptorchidism
- Thin upper lip vermilion
More info about AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM SYNDROME
POPLITEAL PTERYGIUM SYNDROME; PPS
Alternate names
POPLITEAL PTERYGIUM SYNDROME; PPS Is also known as cleft lip/palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies, faciogenitopopliteal syndrome
Most common symptoms of POPLITEAL PTERYGIUM SYNDROME; PPS
- Cleft palate
- Cryptorchidism
- Flexion contracture
- Abnormality of the skeletal system
- Talipes equinovarus
More info about POPLITEAL PTERYGIUM SYNDROME; PPS
SOURCES: OMIM
VAN DER WOUDE SYNDROME 1; VWS1
Alternate names
VAN DER WOUDE SYNDROME 1; VWS1 Is also known as cleft lip and/or palate with mucous cysts of lower lip, pit, lps, lip-pit syndrome, vdws
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.
Most common symptoms of VAN DER WOUDE SYNDROME 1; VWS1
- Scoliosis
- Micrognathia
- Cleft palate
- Cryptorchidism
- Flexion contracture
More info about VAN DER WOUDE SYNDROME 1; VWS1
SOURCES: OMIM
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6
Alternate names
OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6 Is also known as cleft lip with or without cleft palate, nonsyndromic, 6
Most common symptoms of OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6
- Cleft palate
- Cleft upper lip
More info about OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6
SOURCES: OMIM
CLEFT LIP AND ALVEOLUS
Description
Cleft lip and alveolus is a fissure type embryopathy that involves the upper lip, nasal base and alveolar ridge in variable degrees.
More info about CLEFT LIP AND ALVEOLUS
SOURCES: ORPHANET
ISOLATED CLEFT LIP
Description
Isolated cleft lip is a fissure type embryopathy extending from the upper lip to the nasal base.
More info about ISOLATED CLEFT LIP
SOURCES: ORPHANET
CLEFT LIP/PALATE
Alternate names
CLEFT LIP/PALATE Is also known as flp, cleft lip-alveolus-palate syndrome, alveolar cleft lip and palate, cleft lip and palate
Description
Cleft lip and palate is a fissure type embryopathy extending across the upper lip, nasal base, alveolar ridge and the hard and soft palate.
More info about CLEFT LIP/PALATE
SOURCES: ORPHANET
OLIGODONTIA
Alternate names
OLIGODONTIA Is also known as selective tooth agenesis
Description
Oligodontia is a rare developmental dental anomaly in humans characterized by the absence of six or more teeth.
Most common symptoms of OLIGODONTIA
- Micrognathia
- Hypoplasia of the maxilla
- Microdontia
- Abnormality of the face
- Oligodontia
More info about OLIGODONTIA
SOURCES: ORPHANET
Search interest in IRF6
Potential gene panels for IRF6 gene
Abnormal/Ambiguous Genitalia Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Abnormal/Ambiguous Genitalia Sequencing Panel that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOX9 SRD5A2 SRY STAR TBX15 CEP41
More info about this panel United States.
Hypospadias Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hypospadias Sequencing Panel that also includes the following genes: SALL1 BMP4 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4 ZEB2
More info about this panel United States.
IRF6 Exon 4 Sequencing Panel
United States.
By GeneDx
This panel specifically test the IRF6 gene.
More info about this panel United States.
IRF6. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the IRF6 gene.
More info about this panel Spain.
IRF6. MLPA testing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the IRF6 gene.
More info about this panel Spain.
Van Der Woude syndrome (deletions/duplications of IRF6 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the IRF6 gene.
More info about this panel Portugal.
Popliteal Pterygium Syndrome (sequence analysis of IRF6 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the IRF6 gene.
More info about this panel Portugal.
van der Woude syndrome (sequence analysis of IRF6 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the IRF6 gene.
More info about this panel Portugal.
Autosomal dominant popliteal pterygium syndrome (deletions/duplications of IRF6 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the IRF6 gene.
More info about this panel Portugal.
Cleft lip with or without cleft palate (deletions/duplications of IRF6 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the IRF6 gene.
More info about this panel Portugal.
Hypospadias Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hypospadias Sequencing Panel with CNV Detection that also includes the following genes: SALL1 BMP4 BMP7 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4
More info about this panel United States.
IRF6-Related Disorders via IRF6 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the IRF6 gene.
More info about this panel United States.
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1
More info about this panel United States.
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2
More info about this panel United States.
Ambiguous Genitalia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Ambiguous Genitalia Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP4 SEMA3A SOS1 SOX10 SOX2 SOX3 SOX9 SRD5A2
More info about this panel United States.
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4
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.
Popliteal pterygium syndrome Deletion / Duplication test Panel
United States.
By Connective Tissue Gene Tests Popliteal pterygium syndrome Deletion / Duplication test that also includes the following genes: RIPK4 IRF6
More info about this panel United States.
Popliteal pterygium syndrome NGS test Panel
United States.
By Connective Tissue Gene Tests Popliteal pterygium syndrome NGS test that also includes the following genes: RIPK4 IRF6
More info about this panel United States.
Popliteal pterygium syndrome Deletion / Duplication test Panel
United States.
By Connective Tissue Gene Tests Popliteal pterygium syndrome Deletion / Duplication test that also includes the following genes: RIPK4 IRF6
More info about this panel United States.
Mental Retardation and Dysmorphology - panels Panel
Germany.
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
Syndromal Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panel Germany.
IRF6 Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the IRF6 gene.
More info about this panel Netherlands.
IRF6 Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the IRF6 gene.
More info about this panel Netherlands.
van der Woude syndrome type 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the IRF6 gene.
More info about this panel Germany.
Orofacial cleft type 6 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the IRF6 gene.
More info about this panel Germany.
Popliteal pterygium syndrome type 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the IRF6 gene.
More info about this panel Germany.
Cleft lip/palate panel Panel
Germany.
By Centogene AG - the Rare Disease Company Cleft lip/palate panel that also includes the following genes: BMP4 SUMO1 TP63 IRF6 MSX1 NECTIN1
More info about this panel Germany.
Single gene testing IRF6 Panel
Germany.
By CeGaT GmbH
This panel specifically test the IRF6 gene.
More info about this panel Germany.
Van der Woude syndrome (IRF6) Panel
Belgium.
By Center for Human Genetics Cliniques Universitaires Saint Luc
This panel specifically test the IRF6 gene.
More info about this panel Belgium.
Autosomal dominant popliteal pterygium syndrome Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the IRF6 gene.
More info about this panel Austria.
Orofacial cleft 6/ Cleft lip with or without cleft palate Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the IRF6 gene.
More info about this panel Austria.
van der Woude syndrome Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the IRF6 gene.
More info about this panel Austria.
qChip Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1
More info about this panel Spain.
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.
Autosomal dominant popliteal pterygium syndrome Panel
Slovakia.
By MedGene
This panel specifically test the IRF6 gene.
More info about this panel Slovakia.
Orofacial cleft 6/ Cleft lip with or without cleft palate Panel
Slovakia.
By MedGene
This panel specifically test the IRF6 gene.
More info about this panel Slovakia.
van der Woude syndrome Panel
Slovakia.
By MedGene
This panel specifically test the IRF6 gene.
More info about this panel Slovakia.
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.
Van der Woude syndrome: IRF6 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the IRF6 gene.
More info about this panel Spain.
IRF6 - Gene Sequencing & Del/Dup analysis Panel
Netherlands.
By Genome Diagnostics VU University Medical Center
This panel specifically test the IRF6 gene.
More info about this panel Netherlands.
IRF6 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the IRF6 gene.
More info about this panel United States.
Kabuki Syndrome Panel Panel
Finland.
By Blueprint Genetics Kabuki Syndrome Panel that also includes the following genes: SIX5 KDM6A CHD7 EYA1 FLNB IRF6 KMT2D
More info about this panel Finland.
Abnormal Genitalia/ Disorders of Sex Development Panel Panel
Finland.
By Blueprint Genetics Abnormal Genitalia/ Disorders of Sex Development Panel that also includes the following genes: SOX9 SRD5A2 SRY STAR TACR3 CEP41 WT1 PROKR2 ZFPM2 FIG4
More info about this panel Finland.
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.
Van Der Woude syndrome Panel
Spain.
By Bioarray
This panel specifically test the IRF6 gene.
More info about this panel Spain.
Rapid microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
High-Resolution Rapid Microarray (CGH and SNP) Panel
United States.
By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panel United States.
VAN DER WOUDE SYNDROME / POPLITEAL PTERYGIUM SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the IRF6 gene.
More info about this panel Spain.
KABUKI/KABUKI-LIKE SYNDROME NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL KABUKI/KABUKI-LIKE SYNDROME NGS PANEL that also includes the following genes: SIX1 SIX5 KDM6A MACROD2 CHD7 KDM1A EYA1 FLNB HNRNPK IRF6
More info about this panel Spain.
Van Der Woude Syndrome, Sequencing IRF6 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the IRF6 gene.
More info about this panel Spain.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
IRF6-Related Disorders: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the IRF6 gene.
More info about this panel Canada.
IRF6-Related Disorders: gene deletion/duplication Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the IRF6 gene.
More info about this panel Canada.
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