DLX3 gene related symptoms and diseases
All the information presented here about the DLX3 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to DLX3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hypoplasia of dental enamel | Very Common - Between 80% and 100% cases |
| Amelogenesis imperfecta | Very Common - Between 80% and 100% cases |
| Microdontia | Common - Between 50% and 80% cases |
| Carious teeth | Common - Between 50% and 80% cases |
| Curly hair | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with DLX3 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Taurodontia
- Confusion
Not very common - Between 30% and 50% cases
- Abnormality of metabolism/homeostasis
- Increased bone mineral density
- Abnormality of the mastoid
- Dry hair
- Fragile nails
- Thickened calvaria
And 10 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to DLX3 gene
Here you will find a list of rare diseases related to the DLX3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
HYPOMATURATION-HYPOPLASTIC AMELOGENESIS IMPERFECTA WITH TAURODONTISM
Alternate names
HYPOMATURATION-HYPOPLASTIC AMELOGENESIS IMPERFECTA WITH TAURODONTISM Is also known as amelogenesis imperfecta, hypomaturation type, with snow-capped teeth, aih1, enamel hypoplasia, x-linked, amelogenesis imperfecta, x-linked 1, amelogenesis imperfecta type 4, amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 1
Description
Amelogenesis imperfecta is an inherited defect of dental enamel formation that shows both clinical and genetic heterogeneity. In the hypoplastic type of AI, the enamel is of normal hardness but does not develop to normal thickness. The thinness of the enamel makes the teeth appear small. Radiographically, enamel contrasts normally from dentin. The surface of the enamel can vary, showing smooth, rough, pitted, or local forms (Witkop, 1988).
Most common symptoms of HYPOMATURATION-HYPOPLASTIC AMELOGENESIS IMPERFECTA WITH TAURODONTISM
- Abnormality of metabolism/homeostasis
- Confusion
- Microdontia
- Hypoplasia of dental enamel
- Amelogenesis imperfecta
More info about HYPOMATURATION-HYPOPLASTIC AMELOGENESIS IMPERFECTA WITH TAURODONTISM
AMELOGENESIS IMPERFECTA, TYPE IV; AI4
Alternate names
AMELOGENESIS IMPERFECTA, TYPE IV; AI4 Is also known as aihht, amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism
Most common symptoms of AMELOGENESIS IMPERFECTA, TYPE IV; AI4
- Pain
- Carious teeth
- Confusion
- Hypoplasia of dental enamel
- Open bite
More info about AMELOGENESIS IMPERFECTA, TYPE IV; AI4
SOURCES: OMIM
TRICHO-DENTO-OSSEOUS SYNDROME
Alternate names
TRICHO-DENTO-OSSEOUS SYNDROME Is also known as tdo syndrome
Description
Tricho-dento-osseous dysplasia (TDO) belongs to the ectodermal dysplasias and is characterised by curly/kinky hair at birth, enamel hypoplasia with discolouration and molar taurodontism, increased overall bone mineral density (BMD) and increased thickness of the cortical bones of the skull.
Most common symptoms of TRICHO-DENTO-OSSEOUS SYNDROME
- Macrocephaly
- Frontal bossing
- Skeletal dysplasia
- Dolichocephaly
- Carious teeth
More info about TRICHO-DENTO-OSSEOUS SYNDROME
Search interest in DLX3
Potential gene panels for DLX3 gene
Trichodontoosseous syndrome (sequence analysis of DLX3 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the DLX3 gene.
More info about this panel Portugal.
Amelogenesis Imperfecta via DLX3 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the DLX3 gene.
More info about this panel United States.
Amelogenesis Imperfecta Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Amelogenesis Imperfecta Sequencing Panel with CNV Detection that also includes the following genes: CNNM4 SLC24A4 SMOC2 FAM20A FAM83H ODAPH WDR72 DLX3 ROGDI ENAM
More info about this panel United States.
Amelogenesis imperfecta and related disorders Deletion/ Duplication panel Panel
United States.
By Connective Tissue Gene Tests Amelogenesis imperfecta and related disorders Deletion/ Duplication panel that also includes the following genes: SLC24A4 SMOC2 FAM20A FAM83H ODAPH WDR72 DLX3 DSPP ENAM GPR68
More info about this panel United States.
Amelogenesis imperfecta and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Amelogenesis imperfecta and related disorders Comprehensive panel that also includes the following genes: SLC24A4 SMOC2 FAM20A FAM83H ODAPH WDR72 DLX3 DSPP ENAM GPR68
More info about this panel United States.
Amelogenesis imperfecta and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Amelogenesis imperfecta and related disorders NGS panel that also includes the following genes: SLC24A4 SMOC2 FAM20A FAM83H ODAPH WDR72 DLX3 DSPP ENAM GPR68
More info about this panel United States.
Dense bone dysplasia NGS panel Panel
United States.
By Connective Tissue Gene Tests Dense bone dysplasia NGS panel that also includes the following genes: SLCO2A1 TBXAS1 TGFB1 TNFRSF11B TYROBP SOST ANKH DLX3 GJA1 HPGD
More info about this panel United States.
Dense bone dysplasia Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Dense bone dysplasia Comprehensive panel that also includes the following genes: SLCO2A1 TBXAS1 TGFB1 TNFRSF11B TYROBP SOST ANKH DLX3 GJA1 HPGD
More info about this panel United States.
Dense bone dysplasia Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Dense bone dysplasia Deletion / Duplication panel that also includes the following genes: SLCO2A1 TBXAS1 TGFB1 TNFRSF11B TYROBP SOST ANKH DLX3 GJA1 HPGD
More info about this panel United States.
Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia Deletion / Duplication panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST
More info about this panel United States.
Osteopetrosis and Dense bone dysplasia NGS panel Panel
United States.
By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia NGS panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST
More info about this panel United States.
Osteopetrosis and Dense bone dysplasia Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Osteopetrosis and Dense bone dysplasia Comprehensive panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST
More info about this panel United States.
Amelogenesis imperfecta panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht Amelogenesis imperfecta panel that also includes the following genes: FAM20A FAM83H ODAPH WDR72 DLX3 ENAM AMELX KLK4
More info about this panel Netherlands.
Trichodontoosseous syndrome Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the DLX3 gene.
More info about this panel Germany.
Amelogenesis imperfecta Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the DLX3 gene.
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.
Skeletal dysplasia with increased bone density Panel Panel
Germany.
By CeGaT GmbH Skeletal dysplasia with increased bone density Panel that also includes the following genes: SLCO2A1 TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 CA2 SOST SNX10
More info about this panel Germany.
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.
Skeletal Dysplasia With Increased Bone Density: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia With Increased Bone Density: Sequencing Panel that also includes the following genes: TBXAS1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST ANKH
More info about this panel United States.
Skeletal Dysplasia: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Skeletal Dysplasia: Sequencing Panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SHOX SLC25A12 SLC26A2
More info about this panel United States.
Amelogenesis Imperfecta NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Amelogenesis Imperfecta NGS Panel that also includes the following genes: BMP1 SERPINH1 IFITM5 SP7 FKBP10 P3H1 COL1A2 FAM20A CRTAP FAM83H
More info about this panel United States.
Skeletal Dysplasias NGS panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Skeletal Dysplasias NGS panel that also includes the following genes: ROR2 RUNX2 SALL1 BMP2 BMPR1B FBXW4 SHH SLC25A12 SLC26A2 SMARCAL1
More info about this panel United States.
DLX3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DLX3 gene.
More info about this panel United States.
Osteopetrosis and Dense Bone Dysplasia Panel Panel
Finland.
By Blueprint Genetics Osteopetrosis and Dense Bone Dysplasia Panel that also includes the following genes: SLCO2A1 TCIRG1 TGFB1 TNFRSF11A TNFRSF11B TNFSF11 TYROBP CA2 SOST SNX10
More info about this panel Finland.
Comprehensive Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panel Finland.
Amelogenesis Imperfecta and Dentinogenesis Imperfecta Panel Panel
Finland.
By Blueprint Genetics Amelogenesis Imperfecta and Dentinogenesis Imperfecta Panel that also includes the following genes: SLC24A4 FAM20A FAM83H ODAPH WDR72 DLX3 DSPP ENAM GPR68 AMELX
More info about this panel Finland.
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panel Finland.
TRICHO-DENTO-OSSEOUS SYNDROME Panel
Spain.
By Laboratorio de Genetica Clinica SL
This panel specifically test the DLX3 gene.
More info about this panel Spain.
Amelogenesis Imperfecta , Panel Massive Sequencing (NGS) 9 Genes Panel
Spain.
By Reference Laboratory Genetics Amelogenesis Imperfecta , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: FAM20A FAM83H WDR72 DLX3 ENAM AMELX KLK4 LAMB3 MMP20
More info about this panel Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like KCNH1 NDUFV1 POLR3B ABCC6 COL18A1 POP1 PRCD