AMELX gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to AMELX gene

Symptoms // Phenotype % Cases
Confusion Common - Between 50% and 80% cases
Hypoplasia of dental enamel Common - Between 50% and 80% cases
Amelogenesis imperfecta Common - Between 50% and 80% cases
Abnormality of metabolism/homeostasis Uncommon - Between 30% and 50% cases
Microdontia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

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

  • Anterior open bite
  • Pain
  • Carious teeth
  • Open bite
  • Curly hair
  • Taurodontia
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Rare diseases associated to AMELX gene

Here you will find a list of rare diseases related to the AMELX. 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

SOURCES: OMIM ORPHANET

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

HYPOMATURATION AMELOGENESIS IMPERFECTA


Alternate names

HYPOMATURATION AMELOGENESIS IMPERFECTA Is also known as amelogenesis imperfecta type 2


More info about HYPOMATURATION AMELOGENESIS IMPERFECTA

SOURCES: ORPHANET


Potential gene panels for AMELX gene

AMELX. Determination of chromosomal dosage XY by PCR Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the AMELX gene.

More info about this panel

AMELX. Determination of chromosomal dosage XY by PCR Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the AMELX gene.

More info about this panel

Amelogenesis Imperfecta via AMELX Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the AMELX 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 1E Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the AMELX 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 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

AMELX Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the AMELX gene.

More info about this panel

X-chromosome High Resolution microarray analysis Panel

United States.

By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2

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

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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