Details of Disease

General Information of Disease (ID: DISZXR4O)

Disease Name Osteogenesis imperfecta type 11
Synonyms
osteogenesis imperfecta, type 11; OI type XI; OI type 11; OI, type 11; osteogenesis imperfecta, type XI; FKBP10 osteogenesis imperfecta; OI11; osteogenesis imperfecta type XI; osteogenesis imperfecta caused by mutation in FKBP10
Definition Any osteogenesis imperfecta in which the cause of the disease is a mutation in the FKBP10 gene.
Disease Hierarchy
DISEOED3: Osteogenesis imperfecta and a reduction of bone mineral density.
DIS7XQSD: Osteogenesis imperfecta
DISZXR4O: Osteogenesis imperfecta type 11
Disease Identifiers
MONDO ID
MONDO_0012592
UMLS CUI
C3151218
OMIM ID
610968
MedGen ID
462568

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
FKBP10 TT4P8O2 Strong Genetic Variation [1]
FKBP10 TT4P8O2 Definitive Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FKBP10 OTYKLW1K Definitive Autosomal recessive [2]
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References

1 Splicing defect in FKBP10 gene causes autosomal recessive osteogenesis imperfecta disease: a case report.BMC Med Genet. 2018 May 25;19(1):86. doi: 10.1186/s12881-018-0579-8.
2 Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. Am J Hum Genet. 2010 Apr 9;86(4):551-9. doi: 10.1016/j.ajhg.2010.02.022. Epub 2010 Apr 1.