Perlman Syndrome

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.

Clinical Features

Top most frequent phenotypes and symptoms related to Perlman Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Neoplasm
  • Micrognathia
  • Abnormal facial shape
  • Muscular hypotonia

And another 89 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Perlman Syndrome Is also known as nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor, nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome, renal hamartomas, nephroblastomatosis, and fetal gigantism.

Researches and researchers

Doctors, researchs, and experts related to Perlman Syndrome extracted from public data.

Perlman Syndrome Experts map



Current Researchs and researchers

  • BIRMINGHAM — Pr Eamonn R MAHER

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — University of Birmingham School of Medicine, Institute of Biomedical Research, University of Birmingham
      — Birmingham Women's NHS Foundation Trust
      — Addenbrooke's Hospital
    • Research area/topic::

      National Autozygosity Mapping Resource


  • BIRMINGHAM — Ms Shanaz PASHA

    Coordinator of research network

    • Institution/s:
      — Birmingham Women's NHS Foundation Trust
    • Research area/topic::

      National Autozygosity Mapping Resource


  • CAMBRIDGE — Pr Eamonn R MAHER

    Investigator of research project - Coordinator of research network

    • Institution/s:
      — University of Birmingham School of Medicine, Institute of Biomedical Research, University of Birmingham
      — Birmingham Women's NHS Foundation Trust
      — Addenbrooke's Hospital
    • Research area/topic::

      National Autozygosity Mapping Resource



Mendelian

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Perlman Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CHOP Comprehensive Hereditary Cancer Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

RMRP, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, SH2D1A, SLC25A13, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, BUB1B, EPCAM, XPA, IKZF1, CBL , (...)

View the complete list with 85 more genes
Specificity
1 %
Genes
100 %
Perlman Syndrome (sequence analysis of DIS3L2 gene).

By CGC Genetics (Portugal).

DIS3L2
Specificity
100 %
Genes
100 %
OncoRisk Plus (NGS panel for 89 genes).

By CGC Genetics (Portugal).

RUNX1, BLM, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCB1, STK11, BUB1B, EPCAM, TP53, TSC1, TSC2, VHL, WRN, WT1, XPA, XPC , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
100 %
Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, SMARCA4, SMARCB1, SMARCE1, SRP72, STK11, EPCAM, TERC, TERT, TP53, TRIP13, TSC1 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
100 %
Renal Cancer Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SDHA, SDHB, SDHC, SDHD, SMARCB1, EPCAM, TP53, TSC1, TSC2, VHL, WT1, CDC73, DICER1, FLCN, DIS3L2, FH, MET, MITF, MLH1, MSH2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Perlman Syndrome via DIS3L2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

DIS3L2
Specificity
100 %
Genes
100 %
Perlman syndrome.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

DIS3L2
Specificity
100 %
Genes
100 %
Renal cell carcinoma.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

HNF1B, TSC1, TSC2, VHL, DICER1, CDKN1B, WT1-AS, FLCN, DIS3L2, MAX, MET
Specificity
10 %
Genes
100 %

We have 32 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Genetic Syndrome Finder

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