1. Mendelian
  2. Rare Diseases
  3. STURGE-WEBER SYNDROME; SWS

Sturge-weber Syndrome; Sws

Table of contents:

Description

Sturge-Weber syndrome is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. The most common symptoms and signs are facial cutaneous vascular malformations (port-wine stains), seizures, and glaucoma. Stasis results in ischemia underlying the leptomeningeal angiomatosis, leading to calcification and laminar cortical necrosis. The clinical course is highly variable and some children experience intractable seizures, mental retardation, and recurrent stroke-like episodes (review by Thomas-Sohl et al., 2004).

Genes related to Sturge-weber Syndrome; Sws

  • GNAQ

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Sturge-weber Syndrome; Sws

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Cognitive impairment
  • Macrocephaly
  • Hydrocephalus
  • Behavioral abnormality
  • Cerebral cortical atrophy
  • Glaucoma

And another 18 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.

Sturge-weber Syndrome; Sws 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
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
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 %

You can get up to 34 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WEILL-MARCHESANI SYNDROME 1; WMS1 PTOSIS, HEREDITARY CONGENITAL 1; PTOS1 ANTITHROMBIN III DEFICIENCY; AT3D HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS1