Amelogenesis Imperfecta Type IB

Alternative Names

  • AI1B
  • Amelogenesis Imperfecta, Hypoplastic Local, Autosomal Dominant
  • AIH2
  • Enamel Hypoplasia, Hereditary Localized

Associated Genes

Enamelin
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WHO-ICD-10 version:2010

Diseases of the digestive system

Diseases of oral cavity, salivary glands and jaws

OMIM Number

104500

Mode of Inheritance

Autosomal dominant

Gene Map Locus

4q13.3

Description

Amelogenesis Imperfecta refers to a group of clinically and genetically heterogenous disorders characterized by defective enamel development. AI1B is a hypoplastic form of AI that is transmitted in an autosomal dominant manner, and is caused by mutations in the ENAM gene.  

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
104500.1LebanonYesNo Enamel hypoplasia; Generalized hypopla...NM_031889.2:c.588+1delHeterozygousAutosomal, DominantHart et al., 2003 Benign variants seen...
104500.1.1LebanonFemaleYesNo Enamel hypoplasia; Generalized hypoplas...NM_031889.2:c.588+1delHeterozygousAutosomal, DominantHart et al., 2003
104500.1.2LebanonFemaleYesNo Enamel hypoplasia; Generalized hypopla...NM_031889.2:c.588+1delHeterozygousAutosomal, DominantHart et al., 2003 First cousin of 1045...
104500.1.3LebanonMaleYesNo Enamel hypoplasia; Generalized hypopla...NM_031889.2:c.588+1delHeterozygousAutosomal, DominantHart et al., 2003
104500.1.4LebanonMaleYesNo Enamel hypoplasia; Generalized hypopl...NM_031889.2:c.588+1delHeterozygousAutosomal, DominantHart et al., 2003 Father of 104500.1.1
104500.1.5LebanonFemaleYesNo Enamel hypoplasia; Generalized hypop...NM_031889.2:c.588+1delHeterozygousAutosomal, DominantHart et al., 2003
104500.1.6LebanonMaleYesNo Enamel hypoplasia; Generalized hypo...NM_031889.2:c.588+1delHeterozygousAutosomal, DominantHart et al., 2003
104500.1.7LebanonMaleYesNo Enamel hypoplasia; Generalized hyp...NM_031889.2:c.588+1delHeterozygousAutosomal, DominantHart et al., 2003 Father of 104500.1.2
104500.1.8LebanonMaleYesNo Enamel hypoplasia; Generalized hy...NM_031889.2:c.588+1delHeterozygousAutosomal, DominantHart et al., 2003 Father of 104500.1.2
104500.1.9LebanonMaleYesNo Enamel hypoplasia; Generalized h...NM_031889.2:c.588+1delHeterozygousAutosomal, DominantHart et al., 2003 Father of 104500.1.5...
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