Details of Disease | DrugMAP

General Information of Disease (ID: DISVEG5A)

Disease Name	Amelogenesis imperfecta type 1
Synonyms	hypoplastic amelogenesis imperfecta
Disease Hierarchy	DISGYR9E: Amelogenesis imperfecta DISVEG5A: Amelogenesis imperfecta type 1
Disease Identifiers	MONDO ID MONDO_0015047 MESH ID C538240 UMLS CUI C0399367 MedGen ID 97992 Orphanet ID 100031 SNOMED CT ID 109476006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ITGB6	TTKQSXZ	Supportive	Autosomal dominant	[1]
LAMB3	TT2WOUQ	Supportive	Autosomal dominant	[2]
ITGB6	TTKQSXZ	Strong	GermlineCausalMutation	[1]
LAMB3	TT2WOUQ	Strong	Genetic Variation	[3]
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This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ACP4	DE3OZT4	Supportive	Autosomal dominant	[4]
ACP4	DE3OZT4	Strong	Genetic Variation	[5]
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This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACP4	OTYEL9HZ	Supportive	Autosomal dominant	[4]
AMBN	OTWASIMQ	Supportive	Autosomal dominant	[6]
ENAM	OTK8PU0T	Supportive	Autosomal dominant	[7]
ITGB6	OTI3DJ7U	Supportive	Autosomal dominant	[1]
LAMB3	OTFPU6W8	Supportive	Autosomal dominant	[2]
RELT	OT419II2	Supportive	Autosomal dominant	[8]
FAM20A	OT5Z5IW8	Strong	Genetic Variation	[9]
LAMA3	OTFME7HT	Strong	Biomarker	[10]
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⏷ Show the Full List of 8 DOT(s)

References

1	ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta. Hum Mol Genet. 2014 Apr 15;23(8):2157-63. doi: 10.1093/hmg/ddt611. Epub 2013 Dec 4.
2	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.
3	Novel ENAM and LAMB3 mutations in Chinese families with hypoplastic amelogenesis imperfecta.PLoS One. 2015 Mar 13;10(3):e0116514. doi: 10.1371/journal.pone.0116514. eCollection 2015.
4	Recessive Mutations in ACPT, Encoding Testicular Acid Phosphatase, Cause Hypoplastic Amelogenesis Imperfecta. Am J Hum Genet. 2016 Nov 3;99(5):1199-1205. doi: 10.1016/j.ajhg.2016.09.018. Epub 2016 Oct 27.
5	Defects in the acid phosphatase ACPT cause recessive hypoplastic amelogenesis imperfecta.Eur J Hum Genet. 2017 Aug;25(8):1015-1019. doi: 10.1038/ejhg.2017.79. Epub 2017 May 17.
6	Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta. Hum Mol Genet. 2014 Oct 15;23(20):5317-24. doi: 10.1093/hmg/ddu247. Epub 2014 May 23.
7	A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2). Hum Mol Genet. 2002 May 1;11(9):1069-74. doi: 10.1093/hmg/11.9.1069.
8	Mutations in RELT cause autosomal recessive amelogenesis imperfecta. Clin Genet. 2019 Mar;95(3):375-383. doi: 10.1111/cge.13487. Epub 2018 Dec 21.
9	Novel FAM20A mutations in hypoplastic amelogenesis imperfecta. Hum Mutat. 2012 Jan;33(1):91-4. doi: 10.1002/humu.21621. Epub 2011 Oct 31.
10	Carriers with functional null mutations in LAMA3 have localized enamel abnormalities due to haploinsufficiency.Eur J Hum Genet. 2016 Jan;25(1):94-99. doi: 10.1038/ejhg.2016.136. Epub 2016 Nov 9.