Details of Disease | DrugMAP

General Information of Disease (ID: DIS9U2CU)

Disease Name	High bone mass osteogenesis imperfecta
Synonyms	high bone mass OI
Disease Hierarchy	DIS7XQSD: Osteogenesis imperfecta DIS9U2CU: High bone mass osteogenesis imperfecta
Disease Identifiers	MONDO ID MONDO_0017791 UMLS CUI C5190607 MedGen ID 1672817 Orphanet ID 314029 SNOMED CT ID 782781006

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
BMP1	TT0L58T	Supportive	Autosomal dominant	[1]
COL1A2	TTUABC1	Supportive	Autosomal dominant	[2]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BMP1	OTRFFAL4	Supportive	Autosomal dominant	[1]
COL1A1	OTI31178	Supportive	Autosomal dominant	[2]
COL1A2	OTY7G382	Supportive	Autosomal dominant	[2]
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References

1	Distinctive skeletal phenotype in high bone mass osteogenesis imperfecta due to a COL1A2 cleavage site mutation. Am J Med Genet A. 2016 Aug;170(8):2212-4. doi: 10.1002/ajmg.a.37744. Epub 2016 Jun 5.
2	COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta. Hum Mutat. 2011 Jun;32(6):598-609. doi: 10.1002/humu.21475. Epub 2011 Apr 7.