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GENATLAS PHENOTYPE

last update : 06-01-2016

Symbol	OSFD
Location	7q31.2
Name	Osteofibrous dysplasia
Corresponding gene	MET
Main clinical features	tumor-like bone lesion that usually presents as a painless swelling or anterior bowing of the tibia characterized by radiolucent lesions affecting the cortical bone immediately under the periosteum of the tibia and fibula most reports of osteofibrous dysplasia describe isolated tibial lesions, although a significant subgroup describe isolated and ipsilateral fibular involvement familial and bilateral forms have been described
Genetic determination	not applicable
Function/system disorder	osteo-articular
Type	disease

Remark(s)

aberrant MET regulation via the juxtamembrane domain subverts core MET receptor functions that regulate osteogenesis within cortical diaphyseal bone (PMID: 26637977 )