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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
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 353 | APRT | adenine phosphoribosyltransferase | |
| 929 | CD14 | CD14 molecule | |
| 1312 | COMT | catechol-O-methyltransferase | |
| 1800 | DPEP1 | dipeptidase 1 | |
| 2817 | GPC1 | glypican 1 | |
| 5168 | ENPP2 | ectonucleotide pyrophosphatase/phosphodiesterase 2 | |
| 6383 | SDC2 | syndecan 2 | |
| 6385 | SDC4 | syndecan 4 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P07741 | Adenine phosphoribosyltransferase | |
| P08571 | Monocyte differentiation antigen CD14 | |
| P16444 | Dipeptidase 1 | |
| P21964 | Catechol O-methyltransferase | |
| P31431 | Syndecan-4 | |
| P34741 | Syndecan-2 | |
| P35052 | Glypican-1 | |
| Q13822 | Ectonucleotide pyrophosphatase/phosphodiesterase family member 2 |
