Amelogenesis Imperfecta

Common Name(s)

Amelogenesis Imperfecta

Amelogenesis imperfecta (AI) (amelogenesis - enamel formation; imperfecta - imperfect) is a disorder that affects the structure and appearance of the enamel of the teeth. This condition causes teeth to be unusually small, discolored, pitted or grooved, and prone to rapid wear and breakage. These dental problems, which vary among affected individuals, can affect both primary (baby) teeth and permanent teeth. There are 4 main types of AI that are classified based on the type of enamel defect. These 4 types are divided further into 14 subtypes, which are distinguished by their specific dental abnormalities and by their pattern of inheritance. AI can be inherited in an autosomal dominant, autosomal recessive or X-linked recessive pattern.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Amelogenesis Imperfecta" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Amelogenesis Imperfecta" returned 52 free, full-text research articles on human participants. First 3 results:

A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta.
 

Author(s): James A Poulter, Steven J Brookes, Roger C Shore, Claire E L Smith, Layal Abi Farraj, Jennifer Kirkham, Chris F Inglehearn, Alan J Mighell

Journal: Hum. Mol. Genet.. 2014 Apr;23(8):2189-97.

 

We identified a family in which pitted hypomineralized amelogenesis imperfecta (AI) with premature enamel failure segregated in an autosomal recessive fashion. Whole-exome sequencing revealed a missense mutation (c.586C>A, p.P196T) in the I-domain of integrin-β6 (ITGB6), which is ...

Last Updated: 20 Mar 2014

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[Amelogenesis imperfecta. Pitted hypoplastic form].
 

Author(s): Markus Schaffner, Herrmann Stich, Adrian Lussi

Journal: Schweiz Monatsschr Zahnmed. 2013 ;123(9):760-1.

 

Last Updated: 11 Oct 2013

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LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta.
 

Author(s): J W Kim, F Seymen, K E Lee, J Ko, M Yildirim, E B Tuna, K Gencay, T J Shin, H K Kyun, J P Simmer, J C-C Hu

Journal: J. Dent. Res.. 2013 Oct;92(10):899-904.

 

Amelogenesis imperfecta (AI) can be either isolated or part of a larger syndrome. Junctional epidermolysis bullosa (JEB) is a collection of autosomal-recessive disorders featuring AI associated with skin fragility and other symptoms. JEB is a recessive syndrome usually caused by mutations ...

Last Updated: 17 Sep 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Amelogenesis Imperfecta" returned 3 free, full-text review articles on human participants. First 3 results:

Amelogenesis imperfecta.
 

Author(s): Peter J M Crawford, Michael Aldred, Agnes Bloch-Zupan

Journal:

 

Amelogenesis imperfecta (AI) represents a group of developmental conditions, genomic in origin, which affect the structure and clinical appearance of enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes ...

Last Updated: 20 Apr 2007

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The molecular etiologies and associated phenotypes of amelogenesis imperfecta.
 

Author(s): J Timothy Wright

Journal: Am. J. Med. Genet. A. 2006 Dec;140(23):2547-55.

 

The amelogenesis imperfectas (AIs) are a clinically and genetically diverse group of conditions that are caused by mutations in a variety of genes that are critical for normal enamel formation. To date, mutations have been identified in four genes (AMELX, ENAM, KLK4, MMP20) known ...

Last Updated: 27 Nov 2006

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Enamelin and autosomal-dominant amelogenesis imperfecta.
 

Author(s): J C-C Hu, Y Yamakoshi

Journal: Crit. Rev. Oral Biol. Med.. 2003 ;14(6):387-98.

 

Dental enamel forms as a progressively thickening extracellular layer by the action of proteins secreted by ameloblasts. The most abundant enamel protein is amelogenin, which is expressed primarily from a gene on the X-chromosome (AMELX). The two most abundant non-amelogenin enamel ...

Last Updated: 5 Dec 2003

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Amelogenesis Imperfecta
 

Status: Recruiting

Condition Summary: Amelogenesis Imperfecta

 

Last Updated: 4 Feb 2013

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