Sturge-Weber Syndrome, Somatic, Mosaic malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Skin diseases, Fetal diseases
Aliases & Descriptions for Sturge-Weber Syndrome, Somatic, Mosaic:
Orphanet epidemiological data:53
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Childhood,Infancy,Neonatal; Age of death: any age
sturge-weber syndrome, somatic, mosaic:
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Cardiovascular diseases, Skin diseases
Rare neurological diseases
Rare eye diseases
Rare circulatory system diseases
Rare skin diseases
Developmental anomalies during embryogenesis
NIH Rare Diseases:47 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. Sturge-Weber syndrome is caused by a mutation in the GNAQ gene. The gene mutation is not inherited, but occurs by chance in cells of the developing embryo. Last updated: 10/16/2013
MalaCards based summary: Sturge-Weber Syndrome, Somatic, Mosaic, also known as sturge-weber syndrome, is related to familial capillaro-venous leptomeningeal angiomatosis and stuve-wiedemann syndrome/schwartz-jampel type 2 syndrome, and has symptoms including seizures, glaucoma and optic atrophy. An important gene associated with Sturge-Weber Syndrome, Somatic, Mosaic is GNAQ (G Protein Subunit Alpha Q), and among its related pathways is G-protein signaling_RhoA regulation pathway. Affiliated tissues include parietal lobe, brain and eye, and related mouse phenotype limbs/digits/tail.
UniProtKB/Swiss-Prot:69 Sturge-Weber syndrome: A syndrome characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. The most common features 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.
CDC:2 CDC and the Safe Water System [2 pages]
NINDS:48 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.
OMIM:51 Sturge-Weber syndrome is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often... (185300) more...
Human phenotypes related to Sturge-Weber Syndrome, Somatic, Mosaic:63 53 (show all 46)
UMLS symptoms related to Sturge-Weber Syndrome, Somatic, Mosaic:hoarseness
Drugs for Sturge-Weber Syndrome, Somatic, Mosaic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 30)
Interventional clinical trials:(show all 16)
Search NIH Clinical Center for Sturge-Weber Syndrome, Somatic, Mosaic
MalaCards organs/tissues related to Sturge-Weber Syndrome, Somatic, Mosaic:35
Parietal lobe, Brain, Eye, Skin
UniProtKB/Swiss-Prot genetic disease variations for Sturge-Weber Syndrome, Somatic, Mosaic:69
Clinvar genetic disease variations for Sturge-Weber Syndrome, Somatic, Mosaic:5
Search GEO for disease gene expression data for Sturge-Weber Syndrome, Somatic, Mosaic.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet