Details of Disease

General Information of Disease (ID: DISWPUI8)

Disease Name Amelogenesis imperfecta type 1B
Synonyms
AIH2; enamel hypoplasia, hereditary localized; amelogenesis imperfecta, type IB; enamel hypoplasia, hereditary localised; amelogenesis imperfecta, type 1B; amelogenesis imperfecta, hypoplastic local, autosomal dominant; AI1B; hereditary localized enamel hypoplasia; enam amelogenesis imperfecta; amelogenesis imperfecta caused by mutation in enam; autosomal dominant hypoplastic local amelogenesis imperfecta; hereditary localised enamel hypoplasia; amelogenesis imperfecta type IB; ENAM amelogenesis imperfecta; amelogenesis imperfecta caused by mutation in ENAM
Definition Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ENAM gene.
Disease Hierarchy
DISGYR9E: Amelogenesis imperfecta
DISVEG5A: Amelogenesis imperfecta type 1
DIS3HIWD: Autosomal dominant disease
DISWPUI8: Amelogenesis imperfecta type 1B
Disease Identifiers
MONDO ID
MONDO_0007092
MESH ID
C562879
UMLS CUI
C0399368
OMIM ID
104500
MedGen ID
97993
SNOMED CT ID
234961008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AMBN OTWASIMQ Strong Biomarker [1]
CYP2D7 OTYJTL3S Strong Biomarker [2]
ENAM OTK8PU0T Strong Semidominant [3]
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References

1 Human ameloblastin gene: genomic organization and mutation analysis in amelogenesis imperfecta patients.Eur J Oral Sci. 2001 Feb;109(1):8-13. doi: 10.1034/j.1600-0722.2001.00979.x.
2 Multiple viral/self immunological cross-reactivity in liver kidney microsomal antibody positive hepatitis C virus infected patients is associated with the possession of HLA B51.Int J Immunopathol Pharmacol. 2004 Jan-Apr;17(1):83-92. doi: 10.1177/039463200401700112.
3 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.