fibrodysplasia ossificans progressiva
GPTKB entity
Statements (41)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease musculoskeletal disorder |
| 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
|
| https://www.w3.org/2000/01/rdf-schema#label |
fibrodysplasia ossificans progressiva
|
| 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
|