Details of Disease

General Information of Disease (ID: DISS7OBY)

Disease Name Osteogenesis imperfecta type 9
Synonyms
OI, type 9; OI 9; OI type IX; osteogenesis imperfecta, type 9; osteogenesis imperfecta sillence type II/III without abnormality of type I collagen; osteogenesis imperfecta, type IX; OI9; PPIB osteogenesis imperfecta; osteogenesis imperfecta type 9; osteogenesis imperfecta caused by mutation in PPIB; osteogenesis imperfecta type IX
Definition Any osteogenesis imperfecta in which the cause of the disease is a mutation in the PPIB gene.
Disease Hierarchy
DISEOED3: Osteogenesis imperfecta and a reduction of bone mineral density.
DIS7XQSD: Osteogenesis imperfecta
DISS7OBY: Osteogenesis imperfecta type 9
Disease Identifiers
MONDO ID
MONDO_0009805
MESH ID
C564921
UMLS CUI
C1850169
OMIM ID
259440
MedGen ID
376720

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
PPIB TT6ZFQ4 Strong Autosomal recessive [1]
PPIB TT6ZFQ4 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
PPIB OTLPH6KN Strong Autosomal recessive [1]
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References

1 PPIB mutations cause severe osteogenesis imperfecta. Am J Hum Genet. 2009 Oct;85(4):521-7. doi: 10.1016/j.ajhg.2009.09.001. Epub 2009 Sep 24.
2 Two novel mutations in the PPIB gene cause a rare pedigree of osteogenesis imperfecta type IX.Clin Chim Acta. 2017 Jun;469:111-118. doi: 10.1016/j.cca.2017.02.019. Epub 2017 Feb 27.