Sturge-Weber Syndrome, Somatic, Mosaic malady
Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Cardiovascular diseases, Skin diseases, Fetal diseases categories
NIH Rare Diseases:41 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 weber syndrome and choroiditis, and has symptoms including seizures, glaucoma and optic atrophy. An important gene associated with Sturge-Weber Syndrome, Somatic, Mosaic is CMC1 (C-x(9)-C motif containing 1). Affiliated tissues include brain, parietal lobe and eye.
CDC:3 CDC and the Safe Water System [2 pages]
NINDS:42 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:45 Sturge-Weber syndrome is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often... (185300) more...
Sturge-Weber Syndrome, Somatic, Mosaic, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
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
Characteristics (Orphanet epidemiological data):47
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Childhood,Infancy,Neonatal; Age of death: any age
Symptoms by clinical synopsis from OMIM:185300
Clinical features from OMIM:185300
Symptoms:47 (show all 30)
HPO human phenotypes related to Sturge-Weber Syndrome, Somatic, Mosaic:(show all 34)
MalaCards organs/tissues related to Sturge-Weber Syndrome, Somatic, Mosaic:31
Brain, Parietal lobe, Eye, Bone, Skin
UniProtKB/Swiss-Prot genetic disease variations for Sturge-Weber Syndrome, Somatic, Mosaic:62
Clinvar genetic disease variations for Sturge-Weber Syndrome, Somatic, Mosaic:6
Search GEO for disease gene expression data for Sturge-Weber Syndrome, Somatic, Mosaic.
26ICD10 via Orphanet
34MESH via Orphanet
46OMIM via Orphanet
56SNOMED-CT via Orphanet
61UMLS via Orphanet