Details of Disease

General Information of Disease (ID: DIS1PWC7)

• Disease Name: Tooth agenesis
• Synonyms: tooth agenesis, selective; hypodontia; oligodontia; familial tooth agenesis; selective tooth agenesis
• Definition: A rare developmental dental anomaly in humans characterized by the absence of six or more teeth.
• Disease Hierarchy:
  DISYKSRF: Genetic disease
  DISBXWAX: Tooth disorder
  DIS1PWC7: Tooth agenesis
• Disease Identifiers:
  MONDO ID: MONDO_0005486
  MESH ID: D000848
  UMLS CUI: C0020608
  MedGen ID: 43794
  HPO ID: HP:0000668
  Orphanet ID: 99798
  SNOMED CT ID: 64969001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 30 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
WNT10A	OTJ0DNZI	Supportive	Autosomal dominant	[1]
WNT10B	OTH0Z1XV	Supportive	Autosomal dominant	[2]
POLR3GL	OT694B27	Limited	Genetic Variation	[11]
AXIN2	OTRMGQNU	Supportive	Autosomal dominant	[1]
EDA	OTAKS5WS	Supportive	Autosomal dominant	[1]
EDARADD	OT0G52MC	Supportive	Autosomal dominant	[1]
FGFR1	OT4GLCXW	Supportive	Autosomal dominant	[1]
IRF6	OTKJ44EV	Supportive	Autosomal dominant	[1]
MSX1	OT5U41ZP	Supportive	Autosomal dominant	[1]
PAX9	OT25J0F7	Supportive	Autosomal dominant	[1]
TGFA	OTPD1LL9	Supportive	Autosomal dominant	[1]
LTBP3	OTME98V7	moderate	Biomarker	[12]
NKX2-1	OTCMEJTA	moderate	Biomarker	[6]
ARHGAP15	OT9CKHDC	Strong	Genetic Variation	[7]
DLX5	OTEEFBEU	Strong	Biomarker	[13]
FAM20A	OT5Z5IW8	Strong	Genetic Variation	[14]
FGF3	OT9PK2SI	Strong	Genetic Variation	[15]
GREM2	OTE91EWT	Strong	Genetic Variation	[16]
HAND2	OTCXYW4Y	Strong	Biomarker	[8]
IKBKG	OTNWJWSD	Strong	Biomarker	[17]
IRX5	OT05J514	Strong	Biomarker	[18]
KREMEN1	OTGJFSAC	Strong	Genetic Variation	[19]
NHLH1	OTXN5B9R	Strong	Genetic Variation	[20]
NOL11	OTRV6LXB	Strong	Genetic Variation	[7]
PITX2	OTWMXAOY	Strong	Genetic Variation	[21]
SATB2	OT2W80XC	Strong	Biomarker	[22]
SMOC2	OTK1EQ49	Strong	Genetic Variation	[23]
TBX22	OTT1RM26	Strong	Genetic Variation	[24]
TP63	OT0WOOKQ	Strong	Genetic Variation	[13]
LRP6	OTM7PSUR	Definitive	Autosomal dominant	[10]

This Disease Is Related to 11 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
COL1A2	TTUABC1	Limited	Genetic Variation	[3]
LRP6	TTSXOWE	Limited	Genetic Variation	[4]
FGFR1	TTRLW2X	Supportive	Autosomal dominant	[1]
TGFA	TTTLQFR	Supportive	Autosomal dominant	[1]
FGFR1	TTRLW2X	moderate	Biomarker	[5]
NFKBIA	TTSHAEB	moderate	Biomarker	[6]
CACNA1S	TT94HRF	Strong	Genetic Variation	[7]
FOXP1	TT0MUCI	Strong	Genetic Variation	[7]
GJB6	TTAU8SJ	Strong	Biomarker	[8]
PLD2	TTRLMKF	Strong	Genetic Variation	[9]
LRP6	TTSXOWE	Definitive	Autosomal dominant	[10]

References

• [1] Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.
• [2] Mutations in WNT10B Are Identified in Individuals with Oligodontia. Am J Hum Genet. 2016 Jul 7;99(1):195-201. doi: 10.1016/j.ajhg.2016.05.012. Epub 2016 Jun 16.
• [3] Novel PAX9 and COL1A2 missense mutations causing tooth agenesis and OI/DGI without skeletal abnormalities.PLoS One. 2012;7(12):e51533. doi: 10.1371/journal.pone.0051533. Epub 2012 Dec 5.
• [4] Concurrent manifestation of oligodontia and thrombocytopenia caused by a contiguous gene deletion in 12p13.2: A three-generation clinical report.Mol Genet Genomic Med. 2019 Jun;7(6):e679. doi: 10.1002/mgg3.679. Epub 2019 Apr 4.
• [5] Dental agenesis: genetic and clinical perspectives.J Oral Pathol Med. 2009 Jan;38(1):1-17. doi: 10.1111/j.1600-0714.2008.00699.x. Epub 2008 Sep 1.
• [6] The Brain-Lung-Thyroid syndrome (BLTS): A novel deletion in chromosome 14q13.2-q21.1 expands the phenotype to humoral immunodeficiency. Eur J Med Genet. 2018 Jul;61(7):393-398. doi: 10.1016/j.ejmg.2018.02.007. Epub 2018 Feb 22.
• [7] Rare and Common Variants Conferring Risk of Tooth Agenesis.J Dent Res. 2018 May;97(5):515-522. doi: 10.1177/0022034517750109. Epub 2018 Jan 24.
• [8] Dento-maxillo-facial phenotype and implants-based oral rehabilitation in Ectodermal Dysplasia with WNT10A gene mutation: report of a case and literature review.J Craniomaxillofac Surg. 2014 Sep;42(6):e346-51. doi: 10.1016/j.jcms.2014.01.037. Epub 2014 Jan 15.
• [9] Polymorphisms in CHDH gene and the risk of tooth agenesis.Birth Defects Res A Clin Mol Teratol. 2011 Mar;91(3):169-76. doi: 10.1002/bdra.20771. Epub 2011 Feb 9.
• [10] Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia. Am J Hum Genet. 2015 Oct 1;97(4):621-6. doi: 10.1016/j.ajhg.2015.08.014. Epub 2015 Sep 17.
• [11] Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia.Eur J Hum Genet. 2020 Jan;28(1):31-39. doi: 10.1038/s41431-019-0427-0. Epub 2019 May 14.
• [12] New recessive truncating mutation in LTBP3 in a family with oligodontia, short stature, and mitral valve prolapse.Am J Med Genet A. 2015 Jun;167(6):1396-9. doi: 10.1002/ajmg.a.37049. Epub 2015 Apr 21.
• [13] A novel mutation (c.1010G>T; p.R337L) in TP63 as a cause of split-hand/foot malformation with hypodontia.J Gene Med. 2019 Oct;21(10):e3122. doi: 10.1002/jgm.3122. Epub 2019 Aug 30.
• [14] Periodontal disease and FAM20A mutations.J Hum Genet. 2017 Jul;62(7):679-686. doi: 10.1038/jhg.2017.26. Epub 2017 Mar 16.
• [15] Gene defect in hypodontia: exclusion of EGF, EGFR, and FGF-3 as candidate genes.J Dent Res. 1996 Jun;75(6):1346-52. doi: 10.1177/00220345960750060401.
• [16] GREM2 nucleotide variants and the risk of tooth agenesis.Oral Dis. 2018 May;24(4):591-599. doi: 10.1111/odi.12793. Epub 2017 Nov 3.
• [17] Novel missense mutations in the AXIN2 gene associated with non-syndromic oligodontia.Arch Oral Biol. 2014 Mar;59(3):349-53. doi: 10.1016/j.archoralbio.2013.12.009. Epub 2013 Dec 31.
• [18] Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1. Nat Genet. 2012 May 13;44(6):709-13. doi: 10.1038/ng.2259.
• [19] Mutation of KREMEN1, a modulator of Wnt signaling, is responsible for ectodermal dysplasia including oligodontia in Palestinian families.Eur J Hum Genet. 2016 Oct;24(10):1430-5. doi: 10.1038/ejhg.2016.29. Epub 2016 Apr 6.
• [20] Familial non-syndromic cleft lip and palate--analysis of the IRF6 gene and clinical phenotypes.Eur J Orthod. 2008 Apr;30(2):169-75. doi: 10.1093/ejo/cjm097. Epub 2008 Jan 21.
• [21] Novel identification of a four-base-pair deletion mutation in PITX2 in a Rieger syndrome family.J Dent Res. 2003 Dec;82(12):1008-12. doi: 10.1177/154405910308201214.
• [22] Characterization of the first intragenic SATB2 duplication in a girl with intellectual disability, nearly absent speech and suspected hypodontia.Eur J Hum Genet. 2015 May;23(5):704-7. doi: 10.1038/ejhg.2014.163. Epub 2014 Aug 13.
• [23] Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene.Arch Oral Biol. 2013 May;58(5):462-6. doi: 10.1016/j.archoralbio.2012.12.008. Epub 2013 Jan 11.
• [24] Cleft lip with cleft palate, ankyloglossia, and hypodontia are associated with TBX22 mutations.J Dent Res. 2011 Apr;90(4):450-5. doi: 10.1177/0022034510391052. Epub 2011 Jan 19.