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Statistic
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Details for phenotype: fibrodysplasia ossificans progressiva (FOP)
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EndoNet ID: ENP00522
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Name
fibrodysplasia ossificans progressiva (FOP)
General information
This phenotype is pathologic
Fibrodysplasia ossificans progressiva (FOP) is an autosomal dominant human disorder of bone formation that causes developmental skeletal defects and extensive debilitating bone formation within soft connective tissues (heterotopic ossification) during childhood. It is the most severe and disabling disorder of extraskeletal ossification in human.
[1]
Links to other resources
GO
regulation of chondrocyte differentiation
cartilage condensation
OMIM
135100
MeSH term
D009221
Phenotype triggers
more activity (high ligand concentration, overexpression) of
activin receptor type I
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in
chondrocyte
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Constitutive activation of ACVR1 induces alkaline phosphatase activity in C2C12 cells, upregulates BMP4, downregulates BMP antagonists, expands cartilage elements, induces ectopic chondrogenesis and stimulates joint fusions and is the underlying cause of the ectopic chondrogenesis, osteogenesis and joint fusions seen in FOP.
[2]
Reference
