Perlman Syndrome


Perlman syndrome is a very rare condition characterised by nephromegaly with renal dysplasia and Wilms tumor, macrosomia, cryptorchidism, and facial anomalies. It was first described by Perlman et al (1973, 1975) and is thought to be an autosomal recessive trait. Astuti et al (2012) reported that germline mutations in the DIS3L2 gene cause Perlman syndrome.

Literature Analysis

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Tag cloud generated 29 August, 2019 using data from PubMed, MeSH and CancerIndex

Mutated Genes and Abnormal Protein Expression (1)

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DIS3L2 2q37.1 FAM6A, PRLMNS, hDIS3L2 -DIS3L2 and Perlman Syndrome

Note: list is not exhaustive. Number of papers are based on searches of PubMed (click on topic title for arbitrary criteria used).

Useful Links (3 links)

Latest Publications

Perlman M, Goldberg GM, Bar-Ziv J, Danovitch G
Renal hamartomas and nephroblastomatosis with fetal gigantism: a familial syndrome.
J Pediatr. 1973; 83(3):414-8 [PubMed] Related Publications

Perlman M, Levin M, Wittels B
Syndrome of fetal gigantism, renal hamartomas, and nephroblastomatosis with Wilms' tumor.
Cancer. 1975; 35(4):1212-7 [PubMed] Related Publications
A new case of the fetal gigantism-renal hamartomas-nephroblastomatosis syndrome is described, in which a Wilms' tumor occurred. It is considered that this observation provides strong evidence for the interrelationship between renal dysplasia and renal neoplasia.

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Cite this page: Cotterill SJ. Perlman Syndrome, Cancer Genetics Web: Accessed:

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