Details of Disease

General Information of Disease (ID: DISCGIX8)

Disease Name Dentin dysplasia
Synonyms DD; dentinal dysplasia
Definition
Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II.
Disease Hierarchy
DISYQYMA: Tooth hard tissue disease
DISCGIX8: Dentin dysplasia
Disease Identifiers
MONDO ID
MONDO_0015613
MESH ID
D003805
UMLS CUI
C0011430
MedGen ID
8310
HPO ID
HP:0033784
Orphanet ID
1653
SNOMED CT ID
109492001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SLC6A5 TTI0138 Strong Genetic Variation [1]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
AKR1C2 DEOY5ZM Strong Genetic Variation [2]
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This Disease Is Related to 8 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AMELY OTVG0EXE Limited Biomarker [3]
DSPP OT1TYNDN Limited Biomarker [2]
ENAM OTK8PU0T Limited Biomarker [4]
MMP20 OT16S5S3 Strong Biomarker [5]
NET1 OTZHNMJV Strong Genetic Variation [1]
PRPF38B OTQLH551 Strong Genetic Variation [1]
SSUH2 OTWUBDV0 Strong Biomarker [6]
TSPAN1 OTZQPIYK Strong Genetic Variation [1]
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⏷ Show the Full List of 8 DOT(s)

References

1 Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta.J Dent Res. 2008 Dec;87(12):1108-11. doi: 10.1177/154405910808701217.
2 Phenotype and genotype analyses in seven families with dentinogenesis imperfecta or dentin dysplasia.Oral Dis. 2017 Apr;23(3):360-366. doi: 10.1111/odi.12621. Epub 2017 Jan 24.
3 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.
4 Enamelin is critical for ameloblast integrity and enamel ultrastructure formation.PLoS One. 2014 Mar 6;9(3):e89303. doi: 10.1371/journal.pone.0089303. eCollection 2014.
5 Enamelysin (matrix metalloproteinase 20)-deficient mice display an amelogenesis imperfecta phenotype. J Biol Chem. 2002 Dec 20;277(51):49598-604. doi: 10.1074/jbc.M209100200. Epub 2002 Oct 21.
6 Mutation in SSUH2 Causes Autosomal-Dominant Dentin Dysplasia Type I. Hum Mutat. 2017 Jan;38(1):95-104. doi: 10.1002/humu.23130. Epub 2016 Oct 19.