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MCID: STR039
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Sturge-weber Syndrome malady |
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Sources: 30NIH Rare Diseases, 2CDC, 31NINDS, 44Wikipedia, 22MalaCards See all sources Export this MalaCard |
NIH Rare Diseases: Sturge-Weber syndrome is a rare disorder that is present at birth. Affected individuals have a large port-wine stain birthmark on their face, which is caused by blood vessel abnormalities. People with Sturge-Weber syndrome also develop blood vessel abnormalities in the brain called leptomeningeal angiomas. Other features of this syndrome include glaucoma, seizures, muscle weakness, paralysis, developmental delay, and intellectual disability. The cause of Sturge-Weber syndrome is unknown, and it is not thought to be inherited from other family members.30
MalaCards: Sturge-weber Syndrome, also known as encephalotrigeminal angiomatosis, is related to colon cancer and colon carcinoma. An important gene associated with Sturge-weber Syndrome is CYP1B1 (cytochrome P450, family 1, subfamily B, polypeptide 1), and among its related pathways are Development VEGF signaling via VEGFR2 - generic cascades and Development VEGF-family signaling. The compounds erlotinib and ellipticine have been mentioned in the context of this disorder. Affiliated tissues include brain and skin, and related mouse phenotypes are embryogenesis and limbs/digits/tail. CDC: 2 NINDS: Sturge-Weber syndrome is a neurological disorder indicated at birth by a port-wine stain birthmark on the forehead and upper eyelid of one side of the face.31 Wikipedia: Sturge–Weber syndrome, sometimes referred to as encephalotrigeminal angiomatosis, is a rare congenital...44 more... |
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Sources: 2CDC, 30NIH Rare Diseases, 31NINDS, 16GeneTests, 43UMLS See all sources |
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials See all sources |
Approved drugs:Search CenterWatch for sturge-weber syndrome Drug clinical trials:Search ClinicalTrials for sturge-weber syndrome Search NIH Clinical Center for sturge-weber syndrome Search CenterWatch for sturge-weber syndrome |
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Sources: 16GeneTests See all sources |
Genetic tests related to sturge-weber syndrome:
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Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to sturge-weber syndrome:22Brain, Skin
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Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to sturge-weber syndrome:25
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Sources: 35PubMed See all sources |
Articles related to sturge-weber syndrome:
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Sources: 1BioGPS See all sources |
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Sources: 10EMD Millipore, 41Thomson Reuters, 20KEGG See all sources |
Pathways related to sturge-weber syndrome according to GeneDecks:(show all 13)
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Sources: 32Novoseek , 34PharmGKB, 9DrugBank, 18HMDB, 42Tocris Bioscience See all sources |
Compounds related to sturge-weber syndrome according to GeneDecks:(show all 36)
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Sources: 12Gene Ontology See all sources |
Cellular components related to sturge-weber syndrome according to GeneDecks:
Biological processes related to sturge-weber syndrome according to GeneDecks:
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