Details of Disease | DrugMAP

General Information of Disease (ID: DISULIR7)

Disease Name	Osteogenesis imperfecta type 10
Synonyms	OI, type 10; osteogenesis imperfecta, type 10; OI type 10; osteogenesis imperfecta, type X; OI type X; osteogenesis imperfecta caused by mutation in SERPINH1; SERPINH1 osteogenesis imperfecta; OI10; osteogenesis imperfecta type X
Definition	Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SERPINH1 gene.
Disease Hierarchy	DISEOED3: Osteogenesis imperfecta and a reduction of bone mineral density. DIS7XQSD: Osteogenesis imperfecta DISULIR7: Osteogenesis imperfecta type 10
Disease Identifiers	MONDO ID MONDO_0013459 UMLS CUI C3151211 OMIM ID 613848 MedGen ID 462561

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
SERPINH1	TTPSWQG	Strong	Autosomal recessive	[1]
SERPINH1	TTPSWQG	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SERPINH1	OTKGI7BS	Strong	Autosomal recessive	[1]
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References

1	Embryonic lethality of molecular chaperone hsp47 knockout mice is associated with defects in collagen biosynthesis. J Cell Biol. 2000 Sep 18;150(6):1499-506. doi: 10.1083/jcb.150.6.1499.
2	Novel compound heterozygous mutations in SERPINH1 cause rare autosomal recessive osteogenesis imperfecta type X.Osteoporos Int. 2018 Jun;29(6):1389-1396. doi: 10.1007/s00198-018-4448-2. Epub 2018 Mar 9.