KEGG DISEASE: Perlman syndrome

KEGG

DISEASE: Perlman syndrome

Entry

H01412                      Disease

Name

Perlman syndrome

Description

Perlman syndrome is a rare autosomal recessive overgrowth disorder characterized by polyhydramnios with neonatal macrosomia, visceromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It has been reported that germline mutations in DIS3L2 cause this disease.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2C  Overgrowth syndromes
    H01412  Perlman syndrome

Gene

DIS3L2 [HSA:129563] [KO:K18758]

Comment

Perlman syndrome is with phenotypic similarities to Beckwith-Wiedemann syndrome. [DS:H00713]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

Authors

Astuti D, Morris MR, Cooper WN, Staals RH, Wake NC, Fews GA, Gill H, Gentle D, Shuib S, Ricketts CJ, Cole T, van Essen AJ, van Lingen RA, Neri G, Opitz JM, Rump P, Stolte-Dijkstra I, Muller F, Pruijn GJ, Latif F, Maher ER

Title

Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility.

Journal

Nat Genet 44:277-84 (2012)
DOI:10.1038/ng.1071

Reference

Authors

Alessandri JL, Cuillier F, Ramful D, Ernould S, Robin S, de Napoli-Cocci S, Riviere JP, Rossignol S

Title

Perlman syndrome: report, prenatal findings and review.

Journal

Am J Med Genet A 146A:2532-7 (2008)
DOI:10.1002/ajmg.a.32391

LinkDB

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