Details of Disease

General Information of Disease (ID: DISN3KMO)

• Disease Name: Perlman syndrome
• Synonyms: renal hamartomas, nephroblastomatosis, and foetal gigantism; renal hamartomas, nephroblastomatosis, and fetal gigantism; nephroblastomatosis, fetal ascites, macrosomia, and Wilms tumor; nephroblastomatosis foetal ascites macrosomia and Wilms tumour; nephroblastomatosis, foetal ascites, macrosomia, and Wilms tumour; nephroblastomatosis fetal ascites macrosomia and Wilms tumor; PRLMNS; nephroblastomatosis-fetal ascites-macrosomia-Wilms tumour syndrome; nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome; renal hamartomas, nephroblastomatosis and foetal gigantism; nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor; renal hamartomas, nephroblastomatosis and fetal gigantism; Perlman syndrome; nephroblastomatosis - foetal ascites - macrosomia - Wilms tumour; nephroblastomatosis, foetal ascites, macrosomia and Wilms tumour; nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor
• Definition: Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumors (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISYKSRF: Genetic disease
  DISHK54G: Overgrowth syndrome
  DISN3KMO: Perlman syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0009965
  MESH ID: C536399
  UMLS CUI: C0796113
  OMIM ID: 267000
  MedGen ID: 162909
  Orphanet ID: 2849
  SNOMED CT ID: 722231005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
DNMT3B	TT6VZ78	Strong	Biomarker	[1]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DIS3	OT7UPHJS	Strong	Genetic Variation	[2]
GPC4	OTUJ14DW	Strong	Genetic Variation	[3]
DIS3L2	OTWABM04	Definitive	Autosomal recessive	[4]

References

• [1] Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects.Eur J Hum Genet. 2013 Nov;21(11):1219-25. doi: 10.1038/ejhg.2013.40. Epub 2013 Mar 13.
• [2] Germline mutations in DIS3L2 cause the Perlman syndrome of overgrowth and Wilms tumor susceptibility. Nat Genet. 2012 Feb 5;44(3):277-84. doi: 10.1038/ng.1071.
• [3] Mutational analysis of the GPC3/GPC4 glypican gene cluster on Xq26 in patients with Simpson-Golabi-Behmel syndrome: identification of loss-of-function mutations in the GPC3 gene. Hum Mol Genet. 2000 May 22;9(9):1321-8. doi: 10.1093/hmg/9.9.1321.
• [4] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.