Amelogenesis Imperfecta, Type Iv; Ai4

Clinical Features

Phenotypes and symptoms related to Amelogenesis Imperfecta, Type Iv; Ai4

  • Pain
  • Carious teeth
  • Confusion
  • Hypoplasia of dental enamel
  • Open bite
  • Curly hair
  • Amelogenesis imperfecta
  • Taurodontia

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, Type Iv; Ai4 Is also known as aihht, amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism.

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, Type Iv; Ai4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ARHGAP6.

By Fulgent Genetics Fulgent Genetics (United States).

ARHGAP6
Specificity
100 %
Genes
34 %
AMELX. Determination of chromosomal dosage XY by PCR.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

AMELX
Specificity
100 %
Genes
34 %
AMELX. Determination of chromosomal dosage XY by PCR.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

AMELX
Specificity
100 %
Genes
34 %
Amelogenesis Imperfecta via AMELX Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

AMELX
Specificity
100 %
Genes
34 %
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
12 %
Genes
67 %
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
13 %
Genes
67 %
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
13 %
Genes
67 %
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
13 %
Genes
67 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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