Details of Disease

General Information of Disease (ID: DIS4K44C)

Disease Name Amelogenesis imperfecta type 1F
Synonyms
amelogenesis imperfecta, type 1F; amelogenesis imperfecta, hypoplastic type 1F; amelogenesis imperfecta, type IF; amelogenesis imperfecta type IF; amelogenesis imperfecta caused by mutation in AMBN; amelogenesis imperfecta hypoplastic type IF; AMBN amelogenesis imperfecta; AI1F
Definition Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMBN gene.
Disease Hierarchy
DISGYR9E: Amelogenesis imperfecta
DISVEG5A: Amelogenesis imperfecta type 1
DIS4K44C: Amelogenesis imperfecta type 1F
Disease Identifiers
MONDO ID
MONDO_0014560
UMLS CUI
C4225394
OMIM ID
616270
MedGen ID
898597

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
AMBN OTWASIMQ Strong Autosomal recessive [1]
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References

1 Ameloblastin is a cell adhesion molecule required for maintaining the differentiation state of ameloblasts. J Cell Biol. 2004 Dec 6;167(5):973-83. doi: 10.1083/jcb.200409077.