Details of Disease

General Information of Disease (ID: DISP6GAO)

Disease Name Bent bone dysplasia syndrome 1
Synonyms bent bone dysplasia syndrome; bent bone dysplasia (BBD)-FGFR2 type; BBDS; FGFR2-related bent bone dysplasia; perinatal lethal bent bone dysplasia
Disease Hierarchy
DIST70NL: Familial bent bone dysplasia syndrome
DISP6GAO: Bent bone dysplasia syndrome 1
Disease Identifiers
MONDO ID
MONDO_0013815
UMLS CUI
C3281247
OMIM ID
614592
MedGen ID
482877
Orphanet ID
313855

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
FGFR2 TTGJVQM Strong Autosomal dominant [1]
FGFR2 TTGJVQM Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FGFR2 OTLOPACK Strong Autosomal dominant [1]
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References

1 Bent bone dysplasia-FGFR2 type, a distinct skeletal disorder, has deficient canonical FGF signaling. Am J Hum Genet. 2012 Mar 9;90(3):550-7. doi: 10.1016/j.ajhg.2012.02.005. Epub 2012 Mar 1.
2 Nuclear FGFR2 regulates musculoskeletal integration within the developing limb.Dev Dyn. 2019 Mar;248(3):233-246. doi: 10.1002/dvdy.9. Epub 2019 Jan 28.