Amelogenesis Imperfecta, Type Ih; Ai1h

Description

Amelogenesis imperfecta type IH is characterized by hypoplastic and hypomineralized tooth enamel that may be rough, pitted, and/or discolored (Wang et al., 2014 and Poulter et al., 2014).

Clinical Features

Phenotypes and symptoms related to Amelogenesis Imperfecta, Type Ih; Ai1h

  • Dental malocclusion
  • Hypoplasia of dental enamel
  • Open bite
  • Amelogenesis imperfecta
  • Anterior open bite
  • Yellow-brown discoloration of the teeth
  • Anterior open-bite malocclusion
  • Dental enamel pits

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.

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, Type Ih; Ai1h Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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
50 %
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
50 %
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
50 %
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
50 %
Amelogenesis imperfecta type 1H.

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

ITGB6
Specificity
100 %
Genes
50 %
ITGB6.

By Fulgent Genetics Fulgent Genetics (United States).

ITGB6
Specificity
100 %
Genes
50 %
Amelogenesis Imperfecta and Dentinogenesis Imperfecta Panel.

By Blueprint Genetics (Finland).

SLC24A4, FAM20A, FAM83H, ODAPH, WDR72, DLX3, DSPP, ENAM, GPR68, AMELX, ITGB6, KLK4, LAMB3, LTBP3, MMP20
Specificity
7 %
Genes
50 %

You can get up to -1 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like UNCOMBABLE HAIR SYNDROME 1; UHS1 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC; CMT2CC GABRIELE-DE VRIES SYNDROME; GADEVS FAMILIAL VISCERAL MYOPATHY LANGER MESOMELIC DYSPLASIA; LMD METAPHYSEAL CHONDRODYSPLASIA, JANSEN TYPE EPILEPSY, PYRIDOXINE-DEPENDENT; EPD