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
Displaying entries 1 - 10 of 11 in total
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

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024