Details of Disease

General Information of Disease (ID: DIS84ERL)

Disease Name Tooth agenesis, selective, 1
Synonyms
second premolars and third molars, absence of; tooth agenesis, familial; hypodontia/oligodontia 1; STHAG1; MSX1-related tooth agenesis with or without orofacial cleft; tooth agenesis, selective, type 1; MSX1 tooth agenesis; tooth agenesis caused by mutation in MSX1; tooth agenesis, selective, 1; tooth agenesis, selective, 1, with or without orofacial cleft
Definition
Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene characterized by varying severity of tooth agenesis that may be seen in combination with orofacial clefting in some individuals.
Disease Hierarchy
DIS1PWC7: Tooth agenesis
DIS84ERL: Tooth agenesis, selective, 1
Disease Identifiers
MONDO ID
MONDO_0007129
MESH ID
D000848
UMLS CUI
C3489529
OMIM ID
106600
MedGen ID
483482

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CACNA1S TT94HRF Strong Genetic Variation [1]
FOXP1 TT0MUCI Strong Genetic Variation [1]
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This Disease Is Related to 7 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AXIN2 OTRMGQNU Limited Biomarker [2]
PAX9 OT25J0F7 Limited Genetic Variation [3]
LTBP3 OTME98V7 moderate Biomarker [4]
ARHGAP15 OT9CKHDC Strong Genetic Variation [1]
IRX5 OT05J514 Strong Biomarker [5]
NOL11 OTRV6LXB Strong Genetic Variation [1]
MSX1 OT5U41ZP Definitive Autosomal dominant [6]
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⏷ Show the Full List of 7 DOT(s)

References

1 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.
2 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.
3 Novel missense mutation in PAX9 gene associated with familial tooth agenesis.J Oral Pathol Med. 2013 Jan;42(1):99-105. doi: 10.1111/j.1600-0714.2012.01193.x. Epub 2012 Jul 2.
4 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.
5 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.
6 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.