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
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
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
Search interest in AMELX
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 Spain.
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 Spain.
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 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.
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.
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 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.
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.
AMELX Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the AMELX gene.
More info about this panel United States.
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 United States.
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.
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.
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