Details of Disease

General Information of Disease (ID: DISXSBGZ)

Disease Name Osteogenesis imperfecta type 5
Synonyms
OI with calcification in interosseous membranes; type V OI; OI type V; OI, type 5; osteogenesis imperfecta, type V; osteogenesis imperfecta, type 5; osteogenesis imperfecta caused by mutation in IFITM5; osteogenesis imperfecta type V; IFITM5 osteogenesis imperfecta; OI type 5; OI5
Definition
Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI).
Disease Hierarchy
DISEOED3: Osteogenesis imperfecta and a reduction of bone mineral density.
DIS7XQSD: Osteogenesis imperfecta
DISXSBGZ: Osteogenesis imperfecta type 5
Disease Identifiers
MONDO ID
MONDO_0012591
MESH ID
C567042
UMLS CUI
C2931093
OMIM ID
610967
MedGen ID
419332
Orphanet ID
216828
SNOMED CT ID
1003379004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SUCO OT3I9VO9 moderate Biomarker [1]
IFITM5 OTLP5QEJ Definitive Autosomal dominant [2]
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References

1 Osteopotentia regulates osteoblast maturation, bone formation, and skeletal integrity in mice.J Cell Biol. 2010 May 3;189(3):511-25. doi: 10.1083/jcb.201003006.
2 A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V. Am J Hum Genet. 2012 Aug 10;91(2):343-8. doi: 10.1016/j.ajhg.2012.06.005. Epub 2012 Aug 2.