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.

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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

SOURCES: ORPHANET OMIM

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. Genetic Heterogeneity of van der Woude SyndromeAlso see VWS2 (OMIM ), caused by mutation in the GRHL3 gene (OMIM ) on chromosome 1p36.

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


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

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

IRF6 Exon 4 Sequencing Panel

United States.

By GeneDx

This panel specifically test the IRF6 gene.

More info about this panel

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

IRF6 Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the IRF6 gene.

More info about this panel

IRF6 Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the IRF6 gene.

More info about this panel

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

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

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

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

Single gene testing IRF6 Panel

Germany.

By CeGaT GmbH

This panel specifically test the IRF6 gene.

More info about this panel

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

Autosomal dominant popliteal pterygium syndrome Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the IRF6 gene.

More info about this panel

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

van der Woude syndrome Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the IRF6 gene.

More info about this panel

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

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

Autosomal dominant popliteal pterygium syndrome Panel

Slovakia.

By MedGene

This panel specifically test the IRF6 gene.

More info about this panel

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

van der Woude syndrome Panel

Slovakia.

By MedGene

This panel specifically test the IRF6 gene.

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

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

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

IRF6 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the IRF6 gene.

More info about this panel

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

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

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

Van Der Woude syndrome Panel

Spain.

By Bioarray

This panel specifically test the IRF6 gene.

More info about this panel

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

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

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

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

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

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

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

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


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