Details of Disease

General Information of Disease (ID: DISOZEXQ)

Disease Name Amelogenesis imperfecta hypomaturation type 2A4
Synonyms
amelogenesis imperfecta, hypomaturation type, IIA4; amelogenesis imperfecta, type IIA4; amelogenesis imperfecta type IIA4; amelogenesis imperfecta hypomaturation type IIA4; AI2A4; ODAPH amelogenesis imperfecta; amelogenesis imperfecta caused by mutation in ODAPH
Definition Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ODAPH gene.
Disease Hierarchy
DISGYR9E: Amelogenesis imperfecta
DISX8NN4: Amelogenesis imperfecta type 2
DISOZEXQ: Amelogenesis imperfecta hypomaturation type 2A4
Disease Identifiers
MONDO ID
MONDO_0013906
UMLS CUI
C3553830
OMIM ID
614832
MedGen ID
766744

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ODAPH OTOALKQN Definitive Autosomal recessive [1]
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References

1 Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta. Am J Hum Genet. 2012 Sep 7;91(3):565-71. doi: 10.1016/j.ajhg.2012.07.020. Epub 2012 Aug 16.