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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
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 414 | ARSD | arylsulfatase D | |
| 427 | ASAH1 | N-acylsphingosine amidohydrolase 1 | |
| 962 | CD48 | CD48 molecule | |
| 2719 | GPC3 | glypican 3 | |
| 3482 | IGF2R | insulin like growth factor 2 receptor | |
| 3956 | LGALS1 | galectin 1 | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 9173 | IL1RL1 | interleukin 1 receptor like 1 | |
| 10675 | CSPG5 | chondroitin sulfate proteoglycan 5 | |
| 23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 |
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 |
