Details of Disease

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.