Details of Disease | DrugMAP

General Information of Disease (ID: DISL016F)

Disease Name	Primary failure of tooth eruption
Synonyms	dental noneruption; posterior Openbite malocclusion, familial; primary failure of eruption, nonsyndromic; unerupted second primary molar; failure of tooth eruption, primary; primary retention of teeth; PFE
Disease Hierarchy	DISYKSRF: Genetic disease DISL016F: Primary failure of tooth eruption
Disease Identifiers	MONDO ID MONDO_0007434 MESH ID C565114 UMLS CUI C1852222 OMIM ID 125350 MedGen ID 338882 Orphanet ID 412206 SNOMED CT ID 1231153007

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
PTH1R	TTFPD47	moderate	GermlineCausalMutation	[1]
PTH1R	TTFPD47	Definitive	Autosomal dominant	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PTH1R	OTQF5ZAK	Definitive	Autosomal dominant	[2]
------------------------------------------------------------------------------------

References

1	Establishing the diagnostic criteria for eruption disorders based on genetic and clinical data.Am J Orthod Dentofacial Orthop. 2013 Aug;144(2):194-202. doi: 10.1016/j.ajodo.2013.03.015.
2	PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption. Am J Hum Genet. 2008 Dec;83(6):781-6. doi: 10.1016/j.ajhg.2008.11.006.