fibrodysplasia ossificans progressiva

URI: https://gptkb.org/entity/fibrodysplasia_ossificans_progressiva
GPTKB entity
Statements (41)
Predicate Object
gptkbp:instanceOf gptkb:genetic_disorder
gptkb:musculoskeletal_disorder
gptkb:rare_disease
gptkbp:affects gptkb:skeletal_muscle
joints
ligaments
tendons
muscles
gptkbp:complication difficulty breathing
restricted movement
difficulty eating
gptkbp:diagnosedBy clinical evaluation
genetic testing
gptkbp:doNotTreatWith intramuscular injections
surgical removal of bone
gptkbp:fieldOfStudy gptkb:medicine
genetics
orthopedics
gptkbp:firstDescribed Guy Patin
gptkbp:hasNoCure true
gptkbp:hasOrphanetID ORPHA337
gptkbp:ICD-10_code M61.1
gptkbp:inheritance autosomal dominant
gptkbp:mutationAssociatedWith ACVR1 gene
gptkbp:OMIM 135100
gptkbp:onset childhood
gptkbp:otherName gptkb:FOP
Munchmeyer disease
stone man syndrome
gptkbp:prevalence about 1 in 2 million people
gptkbp:progression episodic flare-ups
gptkbp:symptom malformation of big toes
progressive ossification of soft tissues
gptkbp:treatment supportive care
corticosteroids for flare-ups
physical therapy (limited)
gptkbp:bfsParent gptkb:BMP_signaling_pathway
gptkb:TGF-beta_superfamily
gptkb:bone_morphogenetic_proteins
gptkbp:bfsLayer 7
https://www.w3.org/2000/01/rdf-schema#label fibrodysplasia ossificans progressiva