Details of Disease

General Information of Disease (ID: DIS9ICS7)

Disease Name Osteogenesis imperfecta type 15
Synonyms osteogenesis imperfecta, type XV; OI, type 15; osteogenesis imperfecta, type 15; OI15; osteogenesis imperfecta type XV; osteogenesis imperfecta caused by mutation in WNT1; WNT1 osteogenesis imperfecta
Definition Any osteogenesis imperfecta in which the cause of the disease is a mutation in the WNT1 gene.
Disease Hierarchy
DISEOED3: Osteogenesis imperfecta and a reduction of bone mineral density.
DIS7XQSD: Osteogenesis imperfecta
DIS9ICS7: Osteogenesis imperfecta type 15
Disease Identifiers
MONDO ID
MONDO_0014086
UMLS CUI
C3808844
OMIM ID
615220
MedGen ID
815174

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
WNT1 OTULVPZW Strong Autosomal recessive [1]
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References

1 Targeted disruption of the murine int-1 proto-oncogene resulting in severe abnormalities in midbrain and cerebellar development. Nature. 1990 Aug 30;346(6287):847-50. doi: 10.1038/346847a0.