Details of Disease

General Information of Disease (ID: DISTCV2U)

Disease Name Amelogenesis imperfecta type 2A1
Synonyms
amelogenesis imperfecta pigmented hypomaturation type; amelogenesis imperfecta, hypomaturation type, IIA1; amelogenesis imperfecta, pigmented hypomaturation type, 1; amelogenesis imperfecta caused by mutation in KLK4; amelogenesis imperfecta, type IIA1; amelogenesis imperfecta type IIA1; AI2A1; KLK4 amelogenesis imperfecta; amelogenesis imperfecta pigmented hypomaturation type 1
Definition Any amelogenesis imperfecta in which the cause of the disease is a mutation in the KLK4 gene.
Disease Hierarchy
DISGYR9E: Amelogenesis imperfecta
DISX8NN4: Amelogenesis imperfecta type 2
DISTCV2U: Amelogenesis imperfecta type 2A1
Disease Identifiers
MONDO ID
MONDO_0008772
MESH ID
C567146
UMLS CUI
C2673922
OMIM ID
204700
MedGen ID
436039

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
KLK4 TT4319X Strong Autosomal recessive [1]
KLK4 TT4319X Strong CausalMutation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KLK4 OTC4QK8O Strong Autosomal recessive [1]
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References

1 Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta. J Med Genet. 2004 Jul;41(7):545-9. doi: 10.1136/jmg.2003.017657.
2 A Fourth KLK4 Mutation Is Associated with Enamel Hypomineralisation and Structural Abnormalities.Front Physiol. 2017 May 29;8:333. doi: 10.3389/fphys.2017.00333. eCollection 2017.