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Perlman syndrome

Disease Summary
Associated Targets (15)
Tbio

11

Tchem

3

Tclin

1


Explore Associated Targets
Mondo Description Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.
Uniprot Description An autosomal recessive congenital overgrowth syndrome. Affected children are large at birth, are hypotonic, and show organomegaly, characteristic facial dysmorphisms (inverted V-shaped upper lip, prominent forehead, deep-set eyes, broad and flat nasal bridge, and low-set ears), renal anomalies (nephromegaly and hydronephrosis), frequent neurodevelopmental delay, and high neonatal mortality. Perlman syndrome is associated with a high risk of Wilms tumor. Histologic examination of the kidneys in affected children shows frequent nephroblastomatosis, which is a precursor lesion for Wilms tumor.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0009965:  Perlman syndrome
GARD:0003936: 
MESH:C536399: 
NCIT:C103144: 
Orphanet:2849: 
SCTID:722231005: 
UMLS:C0796113: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)