Cytoscape Web
Click node...

Sturge-Weber syndrome
1 OMIM reference -
1 associated gene
26 connected diseases
33 signs/symptoms
Disease Type of connection
Familial multiple nevi flammei
Bleeding diathesis due to thromboxane synthesis deficiency
Early infantile epileptic encephalopathy
Malignant migrating partial seizures of infancy
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked agammaglobulinemia
CLOVE syndrome
Cowden syndrome
Hemimegalencephaly
Hereditary nonpolyposis colon cancer
Macrodactyly of fingers, unilateral
Megalencephaly-capillary malformation-polymicrogyria syndrome
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Autosomal agammaglobulinemia
SHORT syndrome
Acute promyelocytic leukemia
CLN1 disease
Renal tubular dysgenesis of genetic origin
Athyreosis
Familial capillary hemangioma
Familial gestational hyperthyroidism
Familial hyperthyroidism due to mutations in TSH receptor
Hypothyroidism due to TSH receptor mutations
Prune belly syndrome
Thyroid hypoplasia
Synonym(s):
- Encephalofacial angiomatosis
- Encephalotrigeminal angiomatosis
- SWS
- Sturge-Weber-Dimitri syndrome
- Sturge-Weber-Krabbe angiomatosis
- Sturge-Weber-Krabbe syndrome
Classification (Orphanet):
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
- Rare otorhinolaryngologic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: sporadic
External references:
1 OMIM reference -
1 MeSH reference: D013341
Gene symbol UniProt reference OMIM reference
GNAQ P50148600998
Very frequent
- Autism / autistic disoders
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Seizures / epilepsy / absences / spasms / status epilepticus
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Glaucoma
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Intracranial / cerebral calcifications
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Macules
- Ptosis
- Retinal vascular anomalies / retinal telangiectasia
- Strabismus / squint
- Vascular anomalies of skin / mucosae

Occasional
- Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim
- Anomalies of eyes and vision
- Areflexia / hyporeflexia
- Arteriovenous malformations / vascular malformations (excluding port-wine stains)
- Bone tumefaction / swelling
- Cavernous / tuberous hemangioma
- Cerebral vascular anomalies
- Choroidal anomalies / atrophy / choroideremia
- Coloboma of iris
- Facial pain / cephalalgia / migraine
- Hematomas
- Hypereflexia
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macroglossia / tongue protrusion / proeminent / hypertrophic
- Pulmonary thromboembolism
- Retinal detachment
- Venous thrombosis / phlebitis / thrombophlebitis
- Visceral angiomatosis (excluding skin)