Parkes Weber Syndrome

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Parkes Weber Syndrome

RASA1

View recommended genes panels

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.

Click here to know more about Mendelian.

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.

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.

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 Panel complete gene list RIT1, RPL11, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, SEC23B, SLC17A5, BRAF, SMPD1, SOS1, SOS2, SOX18, UROS, CBL, SHOC2, ALG9, CDAN1, KAT6B, ALG1, CHRNA1, CHRND, CHRNG, CANT1, KIAA0586, CLCNKA, CLCNKB, SUMF1, PEX26, FAT4, DHCR7, PIEZO1, WDR35, CCBE1, GNPTAB, FGFR3, FOXC2, G6PD, GALNS, GATA1, GBA, GBE1, GLA, GLB1, GUSB, HADHA, HADHB, HRAS, IDUA, FOXP3, KLF1, KIF23, KRAS, LBR, LIPA, LZTR1, MAP2K1, MAP2K2, MID1, KMT2D, ASAH1, MVK, NEU1, NPC1, NRAS, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX3, PEX6, PIGA, PKLR, PMM2, CTSA, PTH1R, PTPN11, PEX19, PEX5, RAF1, RASA1 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 Panel complete gene list SOX18, TEK, VEGFC, GLMN, KRIT1, STAMBP, GJC2, ACVRL1, CCM2, CCBE1, ENG, FLT4, FOXC2, GATA2, GDF2, KIF11, SMAD4, PDCD10, PTEN, PTPN14, RASA1 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 %

You can get up to 79 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VASCULOPATHY, RETINAL, WITH CEREBRAL LEUKODYSTROPHY; RVCL TREACHER-COLLINS SYNDROME