Proteus Syndrome

Description

Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

Clinical Features

Top most frequent phenotypes and symptoms related to Proteus Syndrome

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus
  • Neoplasm
  • Strabismus
  • Abnormal facial shape
  • Pain
  • Cataract

And another 147 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

Proteus Syndrome Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome, gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly.

Researches and researchers

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

Proteus Syndrome Experts map



Current Researchs and researchers

  • DIJON — Dr Jean-Baptiste RIVIERE

    Investigator of research project

    • Institution/s:
      — CHU de Dijon - Plateau technique de Biologie
      — Universit√© de Bourgogne
    • Research area/topic::

      MOSAIC: A genomic approach to identify postzygotic mutations in mosaic developmental diseases involving the skin



Mendelian

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Proteus Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PTEN Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PTEN
Specificity
100 %
Genes
50 %
PTEN Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PTEN
Specificity
100 %
Genes
50 %
PTEN Deletion/Duplication Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

PTEN
Specificity
100 %
Genes
50 %
PTEN Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PTEN
Specificity
100 %
Genes
50 %
PTEN Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

PTEN
Specificity
100 %
Genes
50 %
PTEN Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

PTEN
Specificity
100 %
Genes
50 %
Hereditary High Risk Breast Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

BRCA1, BRCA2, STK11, TP53, CDH1, PALB2, PTEN
Specificity
15 %
Genes
50 %
Hereditary High Risk Breast Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

BRCA1, BRCA2, STK11, TP53, CDH1, PALB2, PTEN
Specificity
15 %
Genes
50 %

We have 444 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Rare Disease Symptoms Checker

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