PAX9 gene related symptoms and diseases

All the information presented here about the PAX9 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,HGNC,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to PAX9 gene

Symptoms // Phenotype % Cases
Microdontia Very Common - Between 80% and 100% cases
Oligodontia Very Common - Between 80% and 100% cases
Micrognathia Uncommon - Between 30% and 50% cases
Hypoplasia of the maxilla Uncommon - Between 30% and 50% cases
Abnormality of the face Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with PAX9 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Abnormality of dental morphology

Rare diseases associated to PAX9 gene

Here you will find a list of rare diseases related to the PAX9. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


TOOTH AGENESIS, SELECTIVE, 3; STHAG3

Alternate names

TOOTH AGENESIS, SELECTIVE, 3; STHAG3 Is also known as hypodontia/oligodontia 3

Most common symptoms of TOOTH AGENESIS, SELECTIVE, 3; STHAG3

  • Microdontia
  • Oligodontia


More info about TOOTH AGENESIS, SELECTIVE, 3; STHAG3

SOURCES: MESH OMIM

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 PAX9 gene

Tooth agenesis, selective 3 (sequence analysis of PAX9 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the PAX9 gene.

More info about this panel
Portugal.

Tooth Agenesis via PAX9 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the PAX9 gene.

More info about this panel
United States.

Tooth Agenesis Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Tooth Agenesis Sequencing Panel with CNV Detection that also includes the following genes: WNT10A EDARADD EDAR EDA LTBP3 MSX1 PAX9 AXIN2

More info about this panel
United States.

Oligodontia - Selective tooth agenesis Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Oligodontia - Selective tooth agenesis Comprehensive panel that also includes the following genes: WNT10B WNT10A EDA LRP6 LTBP3 MSX1 PAX9 AXIN2 PTH1R

More info about this panel
United States.

Oligodontia - Selective tooth agenesis NGS panel Panel

United States.

By Connective Tissue Gene Tests Oligodontia - Selective tooth agenesis NGS panel that also includes the following genes: WNT10B WNT10A EDA LRP6 LTBP3 MSX1 PAX9 AXIN2 PTH1R

More info about this panel
United States.

Oligodontia - Selective tooth agenesis Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Oligodontia - Selective tooth agenesis Deletion / Duplication panel that also includes the following genes: WNT10B WNT10A EDA LRP6 LTBP3 MSX1 PAX9 AXIN2 PTH1R

More info about this panel
United States.

PAX9 Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the PAX9 gene.

More info about this panel
Netherlands.

Tooth agenesis, selective type 3 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the PAX9 gene.

More info about this panel
Germany.

Tooth agenesis, selective, 3 Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the PAX9 gene.

More info about this panel
Austria.

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.

Tooth agenesis, selective, 3 Panel

Slovakia.

By MedGene

This panel specifically test the PAX9 gene.

More info about this panel
Slovakia.

Invitae Ectodermal Dysplasia with or without Tooth Agenesis Panel Panel

United States.

By Invitae Invitae Ectodermal Dysplasia with or without Tooth Agenesis Panel that also includes the following genes: WNT10A EDARADD EDAR EDA LTBP3 MSX1 NFKBIA PAX9

More info about this panel
United States.

CONGENITAL HYPOTHYROIDISM Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases CONGENITAL HYPOTHYROIDISM that also includes the following genes: SLC16A2 SLC5A5 TG THRA THRB NKX2-1 TPO TSHB DUOX2 IYD

More info about this panel
Spain.

PAX9 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the PAX9 gene.

More info about this panel
United States.

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.

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