Perlman syndrome

Preferred Label : Perlman syndrome;

Symbol : PRLMNS;

CISMeF acronym : PRLMNS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor; Renal hamartomas, nephroblastomatosis, and fetal gigantism;

Description : Perlman syndrome is an autosomal recessive congenital overgrowth syndrome with similarities to Beckwith-Wiedemann syndrome (BWS; 130650). 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, with a 64% incidence in infants surviving beyond the neonatal period. The tumor is diagnosed at an earlier age in these individuals compared with sporadic cases (less than 2 years and 3-4 years of age, respectively), and there is a high frequency of bilateral tumors (55%). Histologic examination of the kidneys in children with Perlman syndrome shows frequent nephroblastomatosis, which is a precursor lesion for Wilms tumor (summary by Astuti et al., 2012).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the DIS3 like 3'-5' exoribonuclease 2 gene (DIS3L2, 614184.0001);

Prefixed ID : #267000;

Details

Origin ID

267000;

UMLS CUI

C0796113;

Automatic exact mappings (from CISMeF team)
- DIS3L2 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor [MeSH concept]
- Perlman Syndrome [NCIt concept]
- Perlman syndrome [DO Concept]
- Perlman syndrome [ICD-11 More detail]
- Perlman syndrome [ORDO Disease]
- Perlman syndrome (disorder) [SNOMED CT concept]
- nephroblastomatosis, fetal ascites, macrosomia and wilms tumor [MeSH Supplementary Concept]
DO Cross reference
- Perlman syndrome [DO Concept]
Genes related to phenotype
- Dis3-like 3-prime-5-prime exoribonuclease 2 [OMIM gene]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormality of the cardiovascular system [HPO term]
- Agenesis of corpus callosum [HPO term]
- Ascites [HPO term]
- Autosomal recessive inheritance [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Cryptorchidism [HPO term]
- Depressed nasal bridge [HPO term]
- Distal ileal atresia [HPO term]
- Edema [HPO term]
- Flattened nasal bridge [HPO term]
- Global developmental delay [HPO term]
- Growth abnormality [HPO term]
- Hypoplasia of the abdominal wall musculature [HPO term]
- Interrupted aortic arch [HPO term]
- Large for gestational age [HPO term]
- Long upper lip [HPO term]
- Low-set ears [HPO term]
- Micrognathia [HPO term]
- Nephroblastoma [HPO term]
- Nephroblastomatosis [HPO term]
- Nephrogenic rest [HPO term]
- Open mouth [HPO term]
- Pancreatic islet-cell hyperplasia [HPO term]
- Polyhydramnios [HPO term]
- Renal hamartoma [HPO term]
- Tented upper lip vermilion [HPO term]
- Unusual facies [HPO term]
- Visceromegaly [HPO term]
- Volvulus [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Perlman syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor [MeSH concept]
- Perlman Syndrome [NCIt concept]
- Perlman syndrome [ORDO Disease]
- Perlman syndrome [DO Concept]
- Perlman syndrome [ICD-11 More detail]
- Perlman syndrome [MedDRA Preferred Term]
- Perlman syndrome (disorder) [SNOMED CT concept]
- nephroblastomatosis, fetal ascites, macrosomia and wilms tumor [MeSH Supplementary Concept]

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