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progressive pseudorheumatoid arthropathy of childhood
Summary
- Synonym
-
- spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome
- Definition
- A osteochondrodysplasia characterized by autosomal recessive inheritance with typical onset around 3 years of age, progressive severe degenerative joint disease, platyspondyly, epiphyseal enlargement but absence of inflammatory joint disease that has_material_basis_in homozygous or compound heterozygous mutation in the CHST3 gene on chromosome 10q22.
- Super Class
- autosomal recessive disease osteochondrodysplasia
External Links
- Disease Ontology
- DOID:0090004
- Mondo Disease Ontology
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 176 | ACAN | aggrecan | |
| 1312 | COMT | catechol-O-methyltransferase | |
| 2720 | GLB1 | galactosidase beta 1 | |
| 3992 | FADS1 | fatty acid desaturase 1 | |
| 9415 | FADS2 | fatty acid desaturase 2 | |
| 9469 | CHST3 | carbohydrate sulfotransferase 3 | |
| 11332 | ACOT7 | acyl-CoA thioesterase 7 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00154 | Cytosolic acyl coenzyme A thioester hydrolase | |
| O95864 | Acyl-CoA 6-desaturase | |
| P16112 | Aggrecan core protein | |
| P16278 | Beta-galactosidase | |
| P21964 | Catechol O-methyltransferase | |
| Q7LGC8 | Carbohydrate sulfotransferase 3 |
