GlyCosmos Portal

Submissions

fibrodysplasia ossificans progressiva

Summary

Synonym

Stone Man Syndrome
myositis ossificans progressiva
progressive myositis ossificans
progressive ossifying myositis

Definition

A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene.

Super Class

autosomal dominant disease connective tissue disease

External Links

Disease Ontology

DOID:13374

Mondo Disease Ontology

MeSH

D009221

UMLS

C0016037

NCI Thesaurus

C3040

ORDO

337

OMIM

135100

GARD

6445

MGI genotype (from TogoID)

Related Genes

Displaying **all 3** entries
Gene ID	Gene Symbol	Description	Source
90	ACVR1	activin A receptor type 1	Alliance of Genome Resources
94	ACVRL1	activin A receptor like type 1	Alliance of Genome Resources
652	BMP4	bone morphogenetic protein 4	Alliance of Genome Resources

Displaying **all 3** entries
Gene ID	Gene Symbol	Description	Source
11477	Acvr1	activin A receptor, type 1	Alliance of Genome Resources
11482	Acvrl1	activin A receptor, type II-like 1	Alliance of Genome Resources
12159	Bmp4	bone morphogenetic protein 4	Alliance of Genome Resources

Displaying **all 2** entries
Gene ID	Gene Symbol	Description	Source
25237	Acvrl1	activin A receptor like type 1	Alliance of Genome Resources
79558	Acvr1	activin A receptor type 1	Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
33432	dpp	decapentaplegic	Alliance of Genome Resources

Displaying **all 3** entries
Gene ID	Gene Symbol	Description	Source
174044	sma-6	Serine/threonine-protein kinase receptor sma-6	Alliance of Genome Resources
176829	daf-1	Cell surface receptor daf-1	Alliance of Genome Resources
179068	dbl-1	Protein dbl-1	Alliance of Genome Resources