Details of Disease

General Information of Disease (ID: DISL0WMD)

Disease Name Sturge-Weber syndrome
Synonyms
SWS type I - Facial and leptomeningeal angiomas; SWS type III - isolated leptomeningeal angiomas; meningeal capillary angiomatosis; SWS type II - Facial angioma alone, no CNS involvement; fourth phacomatosis; leptomeningeal angiomatosis; STURGE-WEBER syndrome; Sturge-Weber syndrome; Sturge-Weber syndrome, somatic, mosaic; Encephalotrigeminal syndrome; Encephalotrigeminal angiomatosis; Sturge-Weber-Krabbe syndrome; Sturge-Weber-Krabbe angiomatosis; SWS; Encephalofacial angiomatosis; Sturge-Weber disease; Sturge Weber syndrome; Sturge Weber Syndrome; Sturge-Weber-Dimitri syndrome
Definition
Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.
Disease Hierarchy
DISB52BH: Eye disorder
DISD715V: Hereditary neurological disease
DISNC82H: Neurocutaneous syndrome
DISL0WMD: Sturge-Weber syndrome
Disease Identifiers
MONDO ID
MONDO_0008501
MESH ID
D013341
UMLS CUI
C0038505
OMIM ID
185300
MedGen ID
21361
Orphanet ID
3205
SNOMED CT ID
19886006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GNAQ TTL1SRG Limited Genetic Variation [1]
GNAQ TTL1SRG Strong Autosomal dominant [2]
LIFR TTID542 Strong Genetic Variation [3]
PNPLA6 TTWAQU2 Strong Genetic Variation [3]
RASA1 TTPNZ1F Strong Biomarker [4]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ALDH18A1 OT6W40XU Strong Genetic Variation [5]
GNAQ OTOODWTU Strong Autosomal dominant [2]
SNAP29 OTT30ZON Strong Genetic Variation [6]
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References

1 A somatic missense mutation in GNAQ causes capillary malformation.Curr Opin Hematol. 2019 May;26(3):179-184. doi: 10.1097/MOH.0000000000000500.
2 Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med. 2013 May 23;368(21):1971-9. doi: 10.1056/NEJMoa1213507. Epub 2013 May 8.
3 GNAQ Mutations in Diffuse and Solitary Choroidal Hemangiomas.Ophthalmology. 2019 May;126(5):759-763. doi: 10.1016/j.ophtha.2018.12.011. Epub 2018 Dec 8.
4 Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation.Eur J Hum Genet. 2018 Oct;26(10):1521-1536. doi: 10.1038/s41431-018-0196-1. Epub 2018 Jun 11.
5 Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain. 2015 Aug;138(Pt 8):2191-205. doi: 10.1093/brain/awv143. Epub 2015 May 29.
6 A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. Am J Hum Genet. 2005 Aug;77(2):242-51. doi: 10.1086/432556. Epub 2005 Jun 20.