Amelogenesis Imperfecta, Hypomaturation Type, Iia2; Ai2a2

Description

Autosomal recessive amelogenesis imperfecta pigmented hypomaturation type is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance. The slightly soft enamel detaches easily from the dentin, and radiographs show a lack of contrast between enamel and dentin (Witkop, 1989).

Clinical Features

Phenotypes and symptoms related to Amelogenesis Imperfecta, Hypomaturation Type, Iia2; Ai2a2

  • Carious teeth
  • Open bite
  • Amelogenesis imperfecta
  • Overbite
  • Anterior open bite

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Amelogenesis Imperfecta, Hypomaturation Type, Iia2; Ai2a2 Is also known as amelogenesis imperfecta, pigmented hypomaturation type, 2.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Amelogenesis Imperfecta, Hypomaturation Type, Iia2; Ai2a2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Amelogenesis Imperfecta via MMP20 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

MMP20
Specificity
100 %
Genes
100 %
Amelogenesis Imperfecta Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

CNNM4, SLC24A4, SMOC2, FAM20A, FAM83H, ODAPH, WDR72, DLX3, ROGDI, ENAM, GPR68, AMELX, ITGB6, KLK4, LAMA3, LAMB3, LTBP3, MMP20
Specificity
6 %
Genes
100 %
Amelogenesis imperfecta and related disorders Deletion/ Duplication panel.

By Connective Tissue Gene Tests (United States).

SLC24A4, SMOC2, FAM20A, FAM83H, ODAPH, WDR72, DLX3, DSPP, ENAM, GPR68, AMELX, ITGB6, KLK4, LAMA3, LAMB3, MMP20
Specificity
7 %
Genes
100 %
Amelogenesis imperfecta and related disorders Comprehensive panel.

By Connective Tissue Gene Tests (United States).

SLC24A4, SMOC2, FAM20A, FAM83H, ODAPH, WDR72, DLX3, DSPP, ENAM, GPR68, AMELX, ITGB6, KLK4, LAMA3, LAMB3, MMP20
Specificity
7 %
Genes
100 %
Amelogenesis imperfecta and related disorders NGS panel.

By Connective Tissue Gene Tests (United States).

SLC24A4, SMOC2, FAM20A, FAM83H, ODAPH, WDR72, DLX3, DSPP, ENAM, GPR68, AMELX, ITGB6, KLK4, LAMA3, LAMB3, MMP20
Specificity
7 %
Genes
100 %
Amelogenesis imperfecta type 2A2.

By Centogene AG - the Rare Disease Company (Germany).

MMP20
Specificity
100 %
Genes
100 %
qGenEx Craniofacial Anomalies.

By Quantitative Genomic Medicine Laboratories, SL (Spain).

RUNX2, SALL1, TSHZ1, BMP4, SEMA3E, SF3B4, SH3BP2, SHH, SIX1, SIX3, SKI, SNAI2, SMC1A, SOX10, TBX22, TCF12, TCOF1, TFAP2A, TGFBR1, TGFBR2 , (...)

View the complete list with 114 more genes
Specificity
1 %
Genes
100 %
Amelogenesis Imperfecta NGS Panel.

By Fulgent Genetics Fulgent Genetics (United States).

BMP1, SERPINH1, IFITM5, SP7, FKBP10, P3H1, COL1A2, FAM20A, CRTAP, FAM83H, WDR72, DLX3, DSPP, ENAM, AMELX, KLK4, MMP20, SERPINF1, PPIB
Specificity
6 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Search Engine

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