Details of Disease

General Information of Disease (ID: DIS1554S)

Disease Name Amelogenesis imperfecta hypomaturation type 2A5
Synonyms
amelogenesis imperfecta, hypomaturation type, IIA5; amelogenesis imperfecta, type IIA5; AI2A5; amelogenesis imperfecta hypomaturation type IIA5; SLC24A4 amelogenesis imperfecta; amelogenesis imperfecta caused by mutation in SLC24A4; amelogenesis imperfecta type IIA5
Definition Any amelogenesis imperfecta in which the cause of the disease is a mutation in the SLC24A4 gene.
Disease Hierarchy
DISGYR9E: Amelogenesis imperfecta
DISX8NN4: Amelogenesis imperfecta type 2
DIS1554S: Amelogenesis imperfecta hypomaturation type 2A5
Disease Identifiers
MONDO ID
MONDO_0014385
UMLS CUI
C4014578
OMIM ID
615887
MedGen ID
863015

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC24A4 DTQWF14 Strong Autosomal recessive [1]
SLC24A4 DTQWF14 Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SLC24A4 OTLJTZ0E Strong Autosomal recessive [1]
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References

1 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.
2 A Functional Study of Mutations in K+-dependent Na+-Ca2+ Exchangers Associated with Amelogenesis Imperfecta and Non-syndromic Oculocutaneous Albinism.J Biol Chem. 2016 Jun 17;291(25):13113-23. doi: 10.1074/jbc.M116.728824. Epub 2016 Apr 25.