Details of Disease

General Information of Disease (ID: DISIKTCU)

Disease Name Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Synonyms
amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism; amelogenesis imperfecta, type IV; amelogenesis imperfecta, type 4; AIHHT; amelogenesis imperfecta type 4; amelogenesis imperfecta caused by mutation in DLX3; AI4; DLX3 amelogenesis imperfecta; amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism
Definition Any amelogenesis imperfecta in which the cause of the disease is a mutation in the DLX3 gene.
Disease Hierarchy
DISGYR9E: Amelogenesis imperfecta
DISIKTCU: Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Disease Identifiers
MONDO ID
MONDO_0007093
MESH ID
C566293
UMLS CUI
C1863012
OMIM ID
104510
MedGen ID
350816
Orphanet ID
100034

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
DLX3 OTARP5SQ Supportive Autosomal dominant [1]
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References

1 DLX3 mutation associated with autosomal dominant amelogenesis imperfecta with taurodontism. Am J Med Genet A. 2005 Mar 1;133A(2):138-41. doi: 10.1002/ajmg.a.30521.