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Article

Fibrodysplasia ossificans progressiva emerges from obscurity.

Trends in molecular medicine - 1 Feb 2025

Kaplan Frederick S, Shore Eileen M, Pignolo Robert J

Abstract excerpt

Fibrodysplasia ossificans progressiva (FOP), a disorder of congenital skeletal malformations and progressive extraskeletal ossification, is the most severe form of heterotopic ossification (HO) in humans. Gain-of-function pathogenic variants in activin A receptor type I (ACVR1), a bone morphogenetic protein (BMP) type 1 receptor, cause FOP by dramatically altering the normal physiologic functions of ACVR1,...

Topics

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Activin Receptors, Type I
Bone Morphogenetic Proteins
ACVR1 gene
Mutation
Myositis Ossificans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Ossification, Heterotopic

Signal Transduction

Source

Identifiers

PMID: 39299836
DOI: 10.1016/j.molmed.2024.08.010

Genes

ACVR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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