Amelogenesis Imperfecta, Hypomaturation Type, Iia1; Ai2a1

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). Genetic Heterogeneity of the Hypomaturation Type of Amelogenesis ImperfectaSee also AI2A2 (OMIM ), caused by mutation in the MMP20 gene (OMIM ); AI2A3 (OMIM ), caused by mutation in the WDR72 gene (OMIM ); and AI2A4 (OMIM ), caused by mutation in the C4ORF26 gene (OMIM ).

Clinical Features

Phenotypes and symptoms related to Amelogenesis Imperfecta, Hypomaturation Type, Iia1; Ai2a1

  • Carious teeth
  • Open bite
  • Amelogenesis imperfecta
  • 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, Iia1; Ai2a1 Is also known as amelogenesis imperfecta, pigmented hypomaturation type, 1.

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.

Amelogenesis Imperfecta, Hypomaturation Type, Iia1; Ai2a1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Amelogenesis Imperfecta via KLK4 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

KLK4
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 panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

FAM20A, FAM83H, ODAPH, WDR72, DLX3, ENAM, AMELX, KLK4
Specificity
13 %
Genes
100 %
Amelogenesis imperfecta type 2A1.

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

KLK4
Specificity
100 %
Genes
100 %
Amelogenesis imperfecta IIA1.

By Praxis fuer Humangenetik Wien (Austria).

KLK4
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Symptoms Checker

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