Details of Disease

General Information of Disease (ID: DISJLZU4)

• Disease Name: Dentinogenesis imperfecta
• Synonyms: opalescent teeth without osteogenesis imperfecta; dentinogenesis imperfecta (disease); dentinogenesis imperfecta; DGI; non-syndromic dentinogenesis imperfecta; dentinogenesis imperfecta without osteogenesis imperfecta; DGI without OI; DI; opalescent teeth without OI; non-syndromic DGI
• Definition: Dentinogenesis imperfecta (DGI) is a hereditary dentin defect characterized by abnormal dentin structure resulting in abnormal tooth development.
• Disease Hierarchy:
  DISBXWAX: Tooth disorder
  DISJLZU4: Dentinogenesis imperfecta
• Disease Identifiers:
  MONDO ID: MONDO_0018849
  MESH ID: D003811
  UMLS CUI: C0011436
  MedGen ID: 8313
  HPO ID: HP:0000703
  Orphanet ID: 49042
  SNOMED CT ID: 196286005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FKBP10	TT4P8O2	moderate	Genetic Variation	[1]
COL1A2	TTUABC1	Strong	Biomarker	[2]
SLC6A5	TTI0138	Strong	Genetic Variation	[3]
TNNC1	TT8RDXP	Strong	Biomarker	[4]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
AKR1C2	DEOY5ZM	Strong	Genetic Variation	[5]

This Disease Is Related to 11 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AMELY	OTVG0EXE	Limited	Biomarker	[6]
ENAM	OTK8PU0T	Limited	Biomarker	[7]
COL1A1	OTI31178	Strong	Biomarker	[2]
DLX3	OTARP5SQ	Strong	Biomarker	[8]
DMTF1	OTDKO9OO	Strong	Biomarker	[9]
DSG1	OT11HC3A	Strong	Genetic Variation	[10]
MMP20	OT16S5S3	Strong	Biomarker	[11]
NET1	OTZHNMJV	Strong	Genetic Variation	[3]
PRPF38B	OTQLH551	Strong	Genetic Variation	[3]
TSPAN1	OTZQPIYK	Strong	Genetic Variation	[3]
DSPP	OT1TYNDN	Definitive	Autosomal dominant	[12]

References

• [1] Mutations in FKBP10 can cause a severe form of isolated Osteogenesis imperfecta. BMC Med Genet. 2011 Nov 22;12:152. doi: 10.1186/1471-2350-12-152.
• [2] Dentin dysplasia type I-A dental disease with genetic heterogeneity.Oral Dis. 2019 Mar;25(2):439-446. doi: 10.1111/odi.12861. Epub 2018 Apr 10.
• [3] Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta.J Dent Res. 2008 Dec;87(12):1108-11. doi: 10.1177/154405910808701217.
• [4] Immunoreactivity of tenascin-C in dentin matrix in dentinogenesis imperfecta associated with osteogenesis imperfecta.J Dent Res. 1996 Jan;75(1):581-7. doi: 10.1177/00220345960750011101.
• [5] 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.
• [6] 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.
• [7] 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.
• [8] Novel COL1A1 mutation (G559C) [correction of G599C] associated with mild osteogenesis imperfecta and dentinogenesis imperfecta.Arch Oral Biol. 2001 May;46(5):459-70. doi: 10.1016/s0003-9969(00)00130-8.
• [9] Dentin matrix protein-1, a candidate gene for dentinogenesis imperfecta.Connect Tissue Res. 1996;35(1-4):267-72. doi: 10.3109/03008209609029200.
• [10] A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family.BMC Med Genet. 2010 Feb 10;11:23. doi: 10.1186/1471-2350-11-23.
• [11] Developmental biology and genetics of dental malformations.Orthod Craniofac Res. 2007 May;10(2):45-52. doi: 10.1111/j.1601-6343.2007.00384.x.
• [12] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.