Amelogenesis Imperfecta Hypomaturation

Common Name(s)

Amelogenesis Imperfecta Hypomaturation

Amelogenesis Imperfecta Hypomaturation (AI hypomaturation) is a rare genetic disorder that causes the abnormal formation of tooth enamel. Tooth enamel is normally the visible part of the human tooth and is the hardest substance in the human body. The color of tooth enamel normally ranges from light yellow to grayish or bluish white. Amelogensis imperfecta in general causes teeth to be abnormally small, discolored, pitted or grooved, and brittle. The hypomaturation type means there are defects in the later stage of enamal formation. The main symptoms for this type of AI include having opaque and porous tooth enamel. They may also have yellow, brown, or grey teeth and are at higher risk for dental cavities as well as the teeth being hypersensitive to temperature changes. This type of AI can be inherited or passed through famillies in an autosomal dominant, recessive or x-Linked manner. In most cases, males affected with x-linked AI have more severe dental abnormalities than females who are affected with this condition. A genetic counselor can provide a better understanding of the underlying causes and recurrence risks. If you or a family member may have these symptoms, please consult your doctor and/or dentist.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Amelogenesis Imperfecta Hypomaturation" 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 Hypomaturation" returned 7 free, full-text research articles on human participants. First 3 results:

Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation.
 

Author(s): Curtis R Herzog, Bryan M Reid, Figen Seymen, Mine Koruyucu, Elif Bahar Tuna, James P Simmer, Jan C-C Hu

Journal: Oral Surg Oral Med Oral Pathol Oral Radiol. 2015 Feb;119(2):e77-81.

 

In this case report of autosomal recessive pigmented hypomaturation amelogenesis imperfecta (AI), we identify a novel homozygous missense mutation (g.165151 T>G; c.1317 T>G; p.Leu436 Arg) in SLC24A4, a gene encoding a potassium-dependent sodium-calcium exchanger that is critical for ...

Last Updated: 31 Dec 1969

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Hypomaturation amelogenesis imperfecta due to WDR72 mutations: a novel mutation and ultrastructural analyses of deciduous teeth.
 

Author(s): W El-Sayed, R C Shore, D A Parry, C F Inglehearn, A J Mighell

Journal: Cells Tissues Organs (Print). 2011 ;194(1):60-6.

 

Mutations in WDR72 have been identified in autosomal recessive hypomaturation amelogenesis imperfecta (AI).

Last Updated: 31 Dec 1969

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Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.
 

Author(s): Walid El-Sayed, David A Parry, Roger C Shore, Mushtaq Ahmed, Hussain Jafri, Yasmin Rashid, Suhaila Al-Bahlani, Sharifa Al Harasi, Jennifer Kirkham, Chris F Inglehearn, Alan J Mighell

Journal: Am. J. Hum. Genet.. 2009 Nov;85(5):699-705.

 

Healthy dental enamel is the hardest and most highly mineralized human tissue. Though acellular, nonvital, and without capacity for turnover or repair, it can nevertheless last a lifetime. Amelogenesis imperfecta (AI) is a collective term for failure of normal enamel development, ...

Last Updated: 31 Dec 1969

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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 Hypomaturation" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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