Details of Disease

General Information of Disease (ID: DISQHD6O)

Disease Name Amelogenesis imperfecta type 1A
Synonyms
amelogenesis imperfecta, hypoplastic type 1A; amelogenesis imperfecta, type 1A; amelogenesis imperfecta local hypoplastic; amelogenesis imperfecta, type IA; local hypoplastic amelogenesis imperfecta; LAMB3 amelogenesis imperfecta; AI1A; amelogenesis imperfecta type IA; amelogenesis imperfecta hypoplastic type IA; amelogenesis imperfecta caused by mutation in LAMB3
Definition Any amelogenesis imperfecta in which the cause of the disease is a mutation in the LAMB3 gene.|Not in the OMIM series.
Disease Hierarchy
DISGYR9E: Amelogenesis imperfecta
DISVEG5A: Amelogenesis imperfecta type 1
DISQHD6O: Amelogenesis imperfecta type 1A
Disease Identifiers
MONDO ID
MONDO_0007094
UMLS CUI
C4011403
OMIM ID
104530
MedGen ID
859840

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
LAMB3 TT2WOUQ Strong Autosomal dominant [1]
LAMB3 TT2WOUQ Strong Genetic Variation [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
LAMB3 OTFPU6W8 Strong Autosomal dominant [1]
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References

1 Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta. Eur J Hum Genet. 2014 Jan;22(1):132-5. doi: 10.1038/ejhg.2013.76. Epub 2013 May 1.
2 Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.Hum Genet. 2018 Sep;137(9):689-703. doi: 10.1007/s00439-018-1907-y. Epub 2018 Jul 26.