Details of Disease

General Information of Disease (ID: DISYUYB7)

Disease Name Amelogenesis imperfecta type 1H
Synonyms amelogenesis imperfecta, type 1H; amelogenesis imperfecta, type IH; amelogenesis imperfecta caused by mutation in ITGB6; ITGB6 amelogenesis imperfecta; amelogenesis imperfecta type IH; AI1H
Definition Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ITGB6 gene.|Not in the OMIM series.
Disease Hierarchy
DISGYR9E: Amelogenesis imperfecta
DISVEG5A: Amelogenesis imperfecta type 1
DISYUYB7: Amelogenesis imperfecta type 1H
Disease Identifiers
MONDO ID
MONDO_0014540
UMLS CUI
C4015557
OMIM ID
616221
MedGen ID
863994

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
ITGB6 TTKQSXZ Strong Autosomal recessive [1]
ITGB6 TTKQSXZ Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ITGB6 OTI3DJ7U Strong Autosomal recessive [1]
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References

1 Critical role for v6 integrin in enamel biomineralization. J Cell Sci. 2013 Feb 1;126(Pt 3):732-44. doi: 10.1242/jcs.112599. Epub 2012 Dec 21.
2 Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability.Eur J Hum Genet. 2016 Aug;24(8):1223-7. doi: 10.1038/ejhg.2015.260. Epub 2015 Dec 23.