Sturge-weber Syndrome

Incidence and onset information

Alternative names

Sturge-weber Syndrome Is also known as sws, sturge-weber-dimitri syndrome, sturge-weber-krabbe angiomatosis, encephalofacial angiomatosis, sturge-weber-krabbe syndrome, encephalotrigeminal angiomatosis.

Researches and researchers

Doctors, researchs, and experts related to Sturge-weber Syndrome extracted from public data.

Sturge-weber Syndrome Experts map

Current Researchs and researchers

• BRON — Pr Alexis ARZIMANOGLOU

  Investigator of clinical trial - Coordinator of research network
  
  

  • Institution/s:
    — CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
  • Research area/topic::
    

    NEUROPED: European network of reference for rare paediatric neurological diseases



• DIJON — Dr Jean-Baptiste RIVIERE

  Investigator of research project
  
  

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

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

Sturge-weber Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Platelet Disorders. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). RUNX1, STIM1, TBXA2R, TBXAS1, USF1, VPS33B, VWF, WAS, GP6, HPS3, HPS4, CD36, HPS5, DTNBP1, P2RY12, HPS6, MASTL, LYST, VIPAS39, FERMT3 , (...) View the complete list with 34 more genes Panel complete gene list RUNX1, STIM1, TBXA2R, TBXAS1, USF1, VPS33B, VWF, WAS, GP6, HPS3, HPS4, CD36, HPS5, DTNBP1, P2RY12, HPS6, MASTL, LYST, VIPAS39, FERMT3, ANO6, ADRA2A, DHCR24, ANKRD26, MLPH, DPAGT1, NBEAL2, F8, FGA, FGB, FGG, FLNA, GATA1, GFI1B, GGCX, GNAQ, GNAS, GP1BA, HOXA11, HPS1, AP3B1, ITGA2, ITGA2B, ITGB3, KLKB1, A2M, MPL, MYH9, MYO5A, P2RX1, BLOC1S6, PLA2G7, PLAU, RAB27A Close Specificity 2 % Genes 100 %
Uveal Melanoma-Related NGS Gene Panel: GNAQ, GNA11 and BAP1. By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine (United States). GNA11, GNAQ, BAP1 Specificity 34 % Genes 100 %
Somatic Overgrowth Gene Panel. By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine (United States). AKT1, AKT2, AKT3, MTOR, GNA11, GNAQ, PIK3CA, PIK3R2 Specificity 13 % Genes 100 %
GNAQ. By Institute for Human Genetics University Clinic Freiburg (Germany). GNAQ Specificity 100 % Genes 100 %
Vascular Malformations NGS Multi-Gene Panel (21 Genes). By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands). BMPR2, SOX18, TEK, GLMN, CAV1, KRIT1, ACVRL1, DOCK6, ANTXR1, CCM2, ENG, GDF2, GNAQ, KCNK3, KDR, SMAD4, MAP3K3, PDCD10, PIK3CA, PTEN , (...) View the complete list with 1 more genes Panel complete gene list BMPR2, SOX18, TEK, GLMN, CAV1, KRIT1, ACVRL1, DOCK6, ANTXR1, CCM2, ENG, GDF2, GNAQ, KCNK3, KDR, SMAD4, MAP3K3, PDCD10, PIK3CA, PTEN, RASA1 Close Specificity 5 % Genes 100 %
Uveal melanoma and blue nevi (frequent somatic mutations at codon 209 of GNAQ gene). By CGC Genetics (Portugal). GNAQ Specificity 100 % Genes 100 %
Sturge-Weber syndrome (mutation p.Arg183Gln on GNAQ gene). By CGC Genetics (Portugal). GNAQ Specificity 100 % Genes 100 %
Capillary malformations, congenital (mutation p. Arg183GIn on GNAQ gene). By CGC Genetics (Portugal). GNAQ Specificity 100 % Genes 100 %

Sources and references

You can check the following sources for additional information.

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