Parkes Weber Syndrome

Clinical Features

Top most frequent phenotypes and symptoms related to Parkes Weber Syndrome

  • Congestive heart failure
  • Headache
  • Glaucoma
  • Abnormal bleeding
  • Hemiparesis
  • Telangiectasia of the skin
  • Nevus flammeus
  • Varicose veins
  • Vascular skin abnormality
  • Peripheral arteriovenous fistula

And another 2 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Parkes Weber Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Non-immune Hydrops Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9 , (...)

View the complete list with 66 more genes
Specificity
2 %
Genes
100 %
NGS Vascular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SOX18, TEK, VEGFC, GLMN, KRIT1, STAMBP, GJC2, ACVRL1, CCM2, CCBE1, ENG, FLT4, FOXC2, GATA2, GDF2, KIF11, SMAD4, PDCD10, PTEN, PTPN14 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Hereditary Hemorrhagic Telangiectasia Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

ACVRL1, ENG, GDF2, SMAD4, RASA1
Specificity
20 %
Genes
100 %
Hereditary Hemorrhagic Telangiectasia (HHT) Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

ACVRL1, ENG, GDF2, SMAD4, RASA1
Specificity
20 %
Genes
100 %
Capillary Malformation-Arteriovenous Malformation (CM-AVM).

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

RASA1
Specificity
100 %
Genes
100 %
RASA1.

By Institute for Human Genetics University Clinic Freiburg (Germany).

RASA1
Specificity
100 %
Genes
100 %
RASA1-Related Disorders (RASA1) Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

RASA1
Specificity
100 %
Genes
100 %
RASA1-Related Disorders (RASA1) Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

RASA1
Specificity
100 %
Genes
100 %

We have 79 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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