Details of Disease

General Information of Disease (ID: DISQK3F9)

• Disease Name: Amelogenesis imperfecta type 1E
• Synonyms: amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 1; amelogenesis imperfecta, type 1E; AI1E; amelogenesis imperfecta, type IE; amelogenesis imperfecta, X-linked 1; amelogenesis imperfecta X-linked 1; amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1; X-linked enamel hypoplasia; enamel hypoplasia X-linked; amelogenesis imperfecta, hypomaturation type, with Snow-capped teeth; enamel hypoplasia, X-linked; X-linked amelogenesis imperfecta hypoplastic/hypomaturation 1; amelogenesis imperfecta hypomaturationtype with snow-capped teeth; X-linked amelogenesis imperfecta 1; amelogenesis imperfecta, type 1E, X-linked dominant; amelogenesis imperfecta caused by mutation in AMELX; amelogenesis imperfecta type IE; AMELX amelogenesis imperfecta; AIH1
• Definition: Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMELX gene.
• Disease Hierarchy:
  DISGYR9E: Amelogenesis imperfecta
  DISX8NN4: Amelogenesis imperfecta type 2
  DISQK3F9: Amelogenesis imperfecta type 1E
• Disease Identifiers:
  MONDO ID: MONDO_0010521
  MESH ID: C564463
  UMLS CUI: C1845053
  OMIM ID: 301200
  MedGen ID: 336847

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AMELX	OTIN26MM	Strong	X-linked	[1]
AMELY	OTVG0EXE	Strong	Biomarker	[2]

References

• [1] 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.
• [2] A mutation in the mouse Amelx tri-tyrosyl domain results in impaired secretion of amelogenin and phenocopies human X-linked amelogenesis imperfecta.Hum Mol Genet. 2010 Apr 1;19(7):1230-47. doi: 10.1093/hmg/ddq001. Epub 2010 Jan 12.