Details of Disease

General Information of Disease (ID: DIS951IF)

Disease Name Amelogenesis imperfecta hypomaturation type 2A2
Synonyms
amelogenesis imperfecta, hypomaturation type, IIA2; amelogenesis imperfecta, pigmented hypomaturation type, 2; AI2A2; amelogenesis imperfecta type IIA2; amelogenesis imperfecta pigmented hypomaturation type 2; amelogenesis imperfecta hypomaturation type IIA2; MMP20 amelogenesis imperfecta; amelogenesis imperfecta, type IIA2; amelogenesis imperfecta caused by mutation in MMP20
Definition Any amelogenesis imperfecta in which the cause of the disease is a mutation in the MMP20 gene.
Disease Hierarchy
DISGYR9E: Amelogenesis imperfecta
DISX8NN4: Amelogenesis imperfecta type 2
DIS951IF: Amelogenesis imperfecta hypomaturation type 2A2
Disease Identifiers
MONDO ID
MONDO_0012926
MESH ID
C567279
UMLS CUI
C2675858
OMIM ID
612529
MedGen ID
436540

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
MMP20 OT16S5S3 Strong Autosomal recessive [1]
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References

1 Enamelysin (matrix metalloproteinase 20)-deficient mice display an amelogenesis imperfecta phenotype. J Biol Chem. 2002 Dec 20;277(51):49598-604. doi: 10.1074/jbc.M209100200. Epub 2002 Oct 21.