PedAM
Pediatric Disease Annotations & Medicines
| Disease | arthropathy |
| Phenotype | C0038015|spondyloepiphyseal dysplasia |
| Sentences | 5 |
| PubMedID- 25553839 | spondyloepiphyseal dysplasia tarda with progressive arthropathy (sedt-pa) is an autosomal recessive skeletal disorder resulting from pathogenic mutations in the wnt1-inducible signaling pathway protein 3 (wisp3) gene. |
| PubMedID- 23573089 | Wisp3 gene mutation was shown to cause spondyloepiphyseal dysplasia tarda with progressive arthropathy (srdt-pa), but the underlying mechanism is not clear. |
| PubMedID- 21273896 | spondyloepiphyseal dysplasia tarda with progressive arthropathy is characterized by short stature resulting from platyspondylia and progressive arthropathy. |
| PubMedID- 24862418 | spondyloepiphyseal dysplasia tarda with progressive arthropathy is a form of inherited skeletal dysplasia involving the axial skeleton along with swelling and deformities of the peripheral joints that mimics juvenile rheumatoid arthritis. |
| PubMedID- 22685593 | Progressive pseudorheumatoid dysplasia (ppd, omim208230), also referred to as spondyloepiphyseal dysplasia tarda with progressive arthropathy (sedt-pa) or progressive pseudorheumatoid arthritis of childhood (ppac), is an autosomal recessive genetic disease. |
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