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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Perlman syndrome
Summary
- Synonym
-
- nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor
- nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
- renal hamartomas, nephroblastomatosis and fetal gigantism
- Definition
- A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome.
- Super Class
- syndrome
External Links
- Disease Ontology
- DOID:0060476
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O95196 | Chondroitin sulfate proteoglycan 5 | |
| P09326 | CD48 antigen | |
| P09382 | Galectin-1 | |
| P11717 | Cation-independent mannose-6-phosphate receptor | |
| P51654 | Glypican-3 | |
| P51689 | Arylsulfatase D | |
| Q01638 | Interleukin-1 receptor-like 1 | |
| Q13510 | Acid ceramidase |
