Amelogenesis Imperfecta, Type Ib; Ai1b

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Amelogenesis Imperfecta, Type Ib; Ai1b

ENAM

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Amelogenesis Imperfecta, Type Ib; Ai1b

Dental malocclusion
Hypoplasia of dental enamel
Open bite
Amelogenesis imperfecta

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 Ib; Ai1b Is also known as enamel hypoplasia, hereditary localized, amelogenesis imperfecta, hypoplastic local, autosomal dominant, aih2.

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 Ib; Ai1b Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Amelogenesis Imperfecta via ENAM Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). ENAM 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 1C. By Centogene AG - the Rare Disease Company (Germany). ENAM Specificity 100 % Genes 100 %
Amelogenesis imperfecta, type 1B. By Centogene AG - the Rare Disease Company (Germany). ENAM Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT COHEN SYNDROME; COH1 CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION; CAHTP ATRANSFERRINEMIA GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO GITELMAN SYNDROME; GTLMNS ABETA AMYLOIDOSIS, ITALIAN TYPE