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
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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

SOURCES: OMIM MESH

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


Potential gene panels for ENAM gene

Amelogenesis Imperfecta via ENAM Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the ENAM gene.

More info about this panel

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

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

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

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

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

Amelogenesis imperfecta, type 1C Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ENAM gene.

More info about this panel

Amelogenesis imperfecta, type 1B Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the ENAM gene.

More info about this panel

Amelogenesis Imperfecta, Type IC Panel

Germany.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics

This panel specifically test the ENAM gene.

More info about this panel

Amelogenesis Imperfecta, Type IB Panel

Germany.

By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics

This panel specifically test the ENAM gene.

More info about this panel

Amelogenesis imperfecta IB Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the ENAM gene.

More info about this panel

Amelogenesis imperfecta IC Panel

Austria.

By Praxis fuer Humangenetik Wien

This panel specifically test the ENAM gene.

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

Amelogenesis imperfecta IB Panel

Slovakia.

By MedGene

This panel specifically test the ENAM gene.

More info about this panel

Amelogenesis imperfecta IC Panel

Slovakia.

By MedGene

This panel specifically test the ENAM gene.

More info about this panel

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

ENAM Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the ENAM gene.

More info about this panel

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

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

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

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


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