ENAM gene related symptoms and diseases
All the information presented here about the ENAM 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 ENAM gene
Symptoms // Phenotype | % Cases |
---|---|
Dental malocclusion | Common - Between 50% and 80% cases |
Hypoplasia of dental enamel | Common - Between 50% and 80% cases |
Open bite | Common - Between 50% and 80% cases |
Amelogenesis imperfecta | Common - Between 50% and 80% cases |
Taurodontia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ENAM gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Anterior open bite
- Yellow-brown discoloration of the teeth
- Anterior open-bite malocclusion
- Hypomineralization of enamel
Rare diseases associated to ENAM gene
Here you will find a list of rare diseases related to the ENAM. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
AMELOGENESIS IMPERFECTA, TYPE IC; AI1C
Alternate names
AMELOGENESIS IMPERFECTA, TYPE IC; AI1C Is also known as amelogenesis imperfecta, hypoplastic, with or without openbite malocclusion, autosomal recessive, amelogenesis imperfecta, local hypoplastic type, autosomal recessive
Most common symptoms of AMELOGENESIS IMPERFECTA, TYPE IC; AI1C
- Dental malocclusion
- Hypoplasia of dental enamel
- Open bite
- Amelogenesis imperfecta
- Taurodontia
More info about AMELOGENESIS IMPERFECTA, TYPE IC; AI1C
AMELOGENESIS IMPERFECTA, TYPE IB; AI1B
Alternate names
AMELOGENESIS IMPERFECTA, TYPE IB; AI1B Is also known as enamel hypoplasia, hereditary localized, amelogenesis imperfecta, hypoplastic local, autosomal dominant, aih2
Most common symptoms of AMELOGENESIS IMPERFECTA, TYPE IB; AI1B
- Dental malocclusion
- Hypoplasia of dental enamel
- Open bite
- Amelogenesis imperfecta
More info about AMELOGENESIS IMPERFECTA, TYPE IB; AI1B
SOURCES: OMIM
HYPOPLASTIC AMELOGENESIS IMPERFECTA
Alternate names
HYPOPLASTIC AMELOGENESIS IMPERFECTA Is also known as amelogenesis imperfecta type 1
More info about HYPOPLASTIC AMELOGENESIS IMPERFECTA
SOURCES: ORPHANET
Search interest in ENAM
Potential gene panels for ENAM gene
Amelogenesis Imperfecta via ENAM Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the ENAM gene.
More info about this panelAmelogenesis Imperfecta Sequencing Panel with CNV Detection Panel
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 panelAmelogenesis imperfecta and related disorders Deletion/ Duplication panel Panel
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 panelAmelogenesis imperfecta and related disorders Comprehensive panel Panel
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 panelAmelogenesis imperfecta and related disorders NGS panel Panel
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 panelAmelogenesis imperfecta panel Panel
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 panelAmelogenesis imperfecta, type 1C Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ENAM gene.
More info about this panelAmelogenesis imperfecta, type 1B Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the ENAM gene.
More info about this panelAmelogenesis Imperfecta, Type IC Panel
By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics
This panel specifically test the ENAM gene.
More info about this panelAmelogenesis Imperfecta, Type IB Panel
By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics
This panel specifically test the ENAM gene.
More info about this panelAmelogenesis imperfecta IB Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the ENAM gene.
More info about this panelAmelogenesis imperfecta IC Panel
By Praxis fuer Humangenetik Wien
This panel specifically test the ENAM gene.
More info about this panelqGenEx Craniofacial Anomalies Panel
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 panelAmelogenesis imperfecta IB Panel
By MedGene
This panel specifically test the ENAM gene.
More info about this panelAmelogenesis imperfecta IC Panel
By MedGene
This panel specifically test the ENAM gene.
More info about this panelAmelogenesis Imperfecta NGS Panel Panel
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 panelENAM Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ENAM gene.
More info about this panelComprehensive Skeletal Dysplasias and Disorders Panel Panel
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 panelAmelogenesis Imperfecta and Dentinogenesis Imperfecta Panel Panel
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 panelComprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
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 panelAmelogenesis Imperfecta , Panel Massive Sequencing (NGS) 9 Genes Panel
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
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