Details of Disease

General Information of Disease (ID: DISVQZCR)

Disease Name Osteogenesis imperfecta type 13
Synonyms
OI, type 13; osteogenesis imperfecta, type 13; osteogenesis imperfecta, type XIII; OI13; osteogenesis imperfecta type XIII; BMP1 osteogenesis imperfecta; osteogenesis imperfecta caused by mutation in BMP1
Definition Any osteogenesis imperfecta in which the cause of the disease is a mutation in the BMP1 gene.
Disease Hierarchy
DIS7XQSD: Osteogenesis imperfecta
DISVQZCR: Osteogenesis imperfecta type 13
Disease Identifiers
MONDO ID
MONDO_0013924
UMLS CUI
C3553887
OMIM ID
614856
MedGen ID
766801

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
BMP1 TT0L58T Strong Autosomal recessive [1]
BMP1 TT0L58T 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
BMP1 OTRFFAL4 Strong Autosomal recessive [1]
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References

1 Induced ablation of Bmp1 and Tll1 produces osteogenesis imperfecta in mice. Hum Mol Genet. 2014 Jun 15;23(12):3085-101. doi: 10.1093/hmg/ddu013. Epub 2014 Jan 12.
2 Novel mutations in BMP1 induce a rare type of osteogenesis imperfecta.Clin Chim Acta. 2019 Feb;489:21-28. doi: 10.1016/j.cca.2018.11.004. Epub 2018 Nov 5.