Details of Disease

General Information of Disease (ID: DISP3OJG)

Disease Name Amelogenesis imperfecta, type 3A
Synonyms
amelogenesis imperfecta, hypomineralization type; amelogenesis imperfecta, type III; amelogenesis imperfecta, hypocalcification type, autosomal dominant; amelogenesis imperfecta, type IIIA; amelogenesis imperfecta type 3A; AI3A; amelogenesis imperfecta, type 3; amelogenesis imperfecta hypomineralization type; amelogenesis imperfecta type III; amelogenesis imperfecta type 3; AI3; FAM83H amelogenesis imperfecta; ADHCAI; amelogenesis imperfecta caused by mutation in FAM83H; amelogenesis imperfecta, type 3A; autosomal dominant amelogenesis imperfecta hypocalcification type
Definition Any amelogenesis imperfecta in which the cause of the disease is a mutation in the FAM83H gene.
Disease Hierarchy
DISGYR9E: Amelogenesis imperfecta
DISP3OJG: Amelogenesis imperfecta, type 3A

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ITGB6 TTKQSXZ Supportive Autosomal dominant [1]
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This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC24A4 DTQWF14 Supportive Autosomal dominant [2]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AMTN OTXAMT4V Supportive Autosomal dominant [3]
ITGB6 OTI3DJ7U Supportive Autosomal dominant [1]
SLC24A4 OTLJTZ0E Supportive Autosomal dominant [2]
FAM83H OTN0SF11 Strong Autosomal dominant [4]
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References

1 A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta. Hum Mol Genet. 2014 Apr 15;23(8):2189-97. doi: 10.1093/hmg/ddt616. Epub 2013 Dec 6.
2 Identification of mutations in SLC24A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta. Am J Hum Genet. 2013 Feb 7;92(2):307-12. doi: 10.1016/j.ajhg.2013.01.003. Epub 2013 Jan 31.
3 Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta. Hum Mol Genet. 2016 Aug 15;25(16):3578-3587. doi: 10.1093/hmg/ddw203. Epub 2016 Jul 12.
4 FAM83H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta. Am J Hum Genet. 2008 Feb;82(2):489-94. doi: 10.1016/j.ajhg.2007.09.020.