Details of Disease | DrugMAP

General Information of Disease (ID: DISH1VZH)

Disease Name	Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1
Synonyms	Dfna39/dentinogenesis imperfecta 1 syndrome; Dfna39/Dgi1 syndrome; Dgi1/Dfna39 syndrome; deafness, autosomal dominant 39, with dentinogenesis; deafness, autosomal dominant 39, with dentinogenesis imperfecta type 1; deafness, autosomal dominant 39, with dentinogenesis imperfecta 1
Disease Hierarchy	DISPKTBC: Dentinogenesis imperfecta type 2 DISH1VZH: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1
Disease Identifiers	MONDO ID MONDO_0011571 MESH ID C565316 UMLS CUI C1854146 OMIM ID 605594 MedGen ID 340145

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DSPP	OT1TYNDN	Definitive	Autosomal dominant	[1]
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References

1	Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. Nat Genet. 2001 Feb;27(2):201-4. doi: 10.1038/84848.