Details of Disease | DrugMAP

General Information of Disease (ID: DISX8NN4)

Disease Name	Amelogenesis imperfecta type 2
Synonyms	amelogenesis imperfecta hypomaturation type; hypomaturation amelogenesis imperfecta
Disease Hierarchy	DISGYR9E: Amelogenesis imperfecta DISX8NN4: Amelogenesis imperfecta type 2
Disease Identifiers	MONDO ID MONDO_0015048 MESH ID C536606 UMLS CUI C0399372 MedGen ID 97994 Orphanet ID 100033 SNOMED CT ID 109475005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
WDR72	OTLMZGTC	Supportive	Autosomal recessive	[1]
AMELX	OTIN26MM	Supportive	Autosomal recessive	[4]
GPR68	OT1NXSMN	Supportive	Autosomal recessive	[5]
KLK4	OTC4QK8O	Supportive	Autosomal recessive	[2]
MMP20	OT16S5S3	Supportive	Autosomal recessive	[6]
ODAPH	OTOALKQN	Supportive	Autosomal recessive	[7]
SLC24A4	OTLJTZ0E	Supportive	Autosomal recessive	[3]
AMTN	OTXAMT4V	moderate	Biomarker	[8]
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⏷ Show the Full List of 8 DOT(s)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KLK4	TT4319X	Supportive	Autosomal recessive	[2]
KLK4	TT4319X	Strong	GermlineCausalMutation	[2]
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This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC24A4	DTQWF14	Disputed	GermlineCausalMutation	[3]
SLC24A4	DTQWF14	Supportive	Autosomal recessive	[3]
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References

1	Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta. Am J Hum Genet. 2009 Nov;85(5):699-705. doi: 10.1016/j.ajhg.2009.09.014. Epub 2009 Oct 22.
2	Amelogenesis imperfecta: genotype-phenotype studies in 71 families. Cells Tissues Organs. 2011;194(2-4):279-83. doi: 10.1159/000324339. Epub 2011 May 19.
3	STIM1 and SLC24A4 Are Critical for Enamel Maturation. J Dent Res. 2014 Jul;93(7 Suppl):94S-100S. doi: 10.1177/0022034514527971. Epub 2014 Mar 12.
4	Amelogenesis imperfecta in two families with defined AMELX deletions in ARHGAP6. PLoS One. 2012;7(12):e52052. doi: 10.1371/journal.pone.0052052. Epub 2012 Dec 14.
5	Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta. Am J Hum Genet. 2016 Oct 6;99(4):984-990. doi: 10.1016/j.ajhg.2016.08.020. Epub 2016 Sep 29.
6	MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta. J Med Genet. 2005 Mar;42(3):271-5. doi: 10.1136/jmg.2004.024505.
7	Mutations in C4orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta. Am J Hum Genet. 2012 Sep 7;91(3):565-71. doi: 10.1016/j.ajhg.2012.07.020. Epub 2012 Aug 16.
8	Deletion of amelotin exons 3-6 is associated with amelogenesis imperfecta. Hum Mol Genet. 2016 Aug 15;25(16):3578-3587. doi: 10.1093/hmg/ddw203. Epub 2016 Jul 12.