Details of Disease | DrugMAP

General Information of Disease (ID: DISYFC01)

Disease Name	Osteogenesis imperfecta type 17
Synonyms	osteogenesis imperfecta, type 17; osteogenesis imperfecta, type XVII; osteogenesis imperfecta caused by mutation in SPARC; SPARC osteogenesis imperfecta; osteogenesis imperfecta type XVII; OI17
Definition	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SPARC gene.
Disease Hierarchy	DISEOED3: Osteogenesis imperfecta and a reduction of bone mineral density. DIS7XQSD: Osteogenesis imperfecta DISYFC01: Osteogenesis imperfecta type 17
Disease Identifiers	MONDO ID MONDO_0014672 UMLS CUI C4225301 OMIM ID 616507 MedGen ID 903845

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
SPARC	TTBQFM7	Limited	Genetic Variation	[1]
SPARC	TTBQFM7	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SPARC	OTPN90H0	Strong	Autosomal recessive	[1]
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References

1	Recessive osteogenesis imperfecta caused by missense mutations in SPARC. Am J Hum Genet. 2015 Jun 4;96(6):979-85. doi: 10.1016/j.ajhg.2015.04.021. Epub 2015 May 28.