Details of Disease

General Information of Disease (ID: DISCE7GG)

Disease Name Amelogenesis imperfecta hypomaturation type 2A3
Synonyms
amelogenesis imperfecta, hypomaturation type, IIA3; amelogenesis imperfecta type IIA3; AI2A3; amelogenesis imperfecta, type IIA3; WDR72 amelogenesis imperfecta; amelogenesis imperfecta hypomaturation type 2A3; amelogenesis imperfecta hypomaturation type IIA3; amelogenesis imperfecta caused by mutation in WDR72
Definition Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 gene.
Disease Hierarchy
DISGYR9E: Amelogenesis imperfecta
DISX8NN4: Amelogenesis imperfecta type 2
DISCE7GG: Amelogenesis imperfecta hypomaturation type 2A3
Disease Identifiers
MONDO ID
MONDO_0013181
MESH ID
C567706
UMLS CUI
C2750771
OMIM ID
613211
MedGen ID
416381

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
WDR72 OTLMZGTC Strong Autosomal recessive [1]
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References

1 Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta. Am J Hum Genet. 2009 Nov;85(5):699-705. doi: 10.1016/j.ajhg.2009.09.014. Epub 2009 Oct 22.