Details of Disease

General Information of Disease (ID: DISU5HAO)

Disease Name Osteofibrous dysplasia
Synonyms
osteofibrous dysplasia, susceptibility to; cortical fibrous dysplasia; osteofibrous dysplasia; ossifying fibroma of long bones; tibia, bowing of, with pseudarthrosis and pectus excavatum; OFD; OSFD; osteofibrous dysplasia of bone; Kempson-Campanacci lesion
Definition
A benign, usually self-limited fibro-osseous lesion of the bone that affects infants and children. It usually arises from the cortical bone of the anterior mid-shaft of the tibia. Patients usually present with swelling or painless bowing of the tibia. Progression to adamantinoma has been reported in some cases.
Disease Hierarchy
DIS5Z8U6: Skeletal dysplasia
DISU5HAO: Osteofibrous dysplasia
Disease Identifiers
MONDO ID
MONDO_0011806
UMLS CUI
C4085248
OMIM ID
607278
MedGen ID
895748
Orphanet ID
488265

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MET TTNDSF4 Supportive Autosomal dominant [1]
------------------------------------------------------------------------------------
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MET OT7K55MU Supportive Autosomal dominant [1]
TBC1D32 OTR5NU7K Strong Biomarker [2]
------------------------------------------------------------------------------------

References

1 Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia. Am J Hum Genet. 2015 Dec 3;97(6):837-47. doi: 10.1016/j.ajhg.2015.11.001.
2 Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX. Hum Mutat. 2014 Jan;35(1):36-40. doi: 10.1002/humu.22477. Epub 2013 Nov 25.