eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| sturge weber syndrome | ||||
| Disease ID | 1032 |
|---|---|
| Disease | sturge weber syndrome |
| Definition | A non-inherited congenital condition with vascular and neurological abnormalities. It is characterized by facial vascular nevi (PORT-WINE STAIN), and capillary angiomatosis of intracranial membranes (MENINGES; CHOROID). Neurological features include EPILEPSY; cognitive deficits; GLAUCOMA; and visual defects. |
| Synonym | angiomatosis oculo-orbital-thalamo-encephalic syndrome angiomatosis oculoorbital-thalamic syndrome angiomatosis, encephalofacial angiomatosis, encephalotrigeminal angiomatosis, meningo-oculo-facial dimitri disease encephalocutaneous angiomatosis encephalofacial haemangiomatosis encephalofacial hemangiomatosis encephalofacial hemangiomatosis syndrome encephalotrigeminal angiomatosis encephalotrigeminal syndrome hemangiomatosis syndrome, encephalofacial meningo oculo facial angiomatosis meningo-oculo-facial angiomatosis meningofacial angiomatosis-cerebral calcification syndrome neurocutaneous syndrome neuroretinoangiomatosis parkes weber syndrome (disorder) parkes-weber syndrome phakomatosis, sturge weber phakomatosis, sturge-weber pkws sturge dis sturge disease sturge kalischer weber syndrome sturge syndrome sturge syndrome weber sturge weber dimitri syndrome sturge weber disease sturge weber krabbe syndrome sturge's syndrome sturge-kalischer-weber syndrome sturge-weber disease sturge-weber phakomatosis sturge-weber sequence sturge-weber sequence (disorder) sturge-weber syndrome sturge-weber syndrome (disorder) sturge-weber syndrome [disease/finding] sturge-weber-dimitri syndrome sturge-weber-krabbe syndrome sturges syndrome weber sturges weber syndrome sws syndrome, encephalofacial hemangiomatosis syndrome, parkes weber syndrome, parkes-weber syndrome, sturge syndrome, sturge's syndrome, sturge-kalischer-weber syndrome, sturge-weber syndrome, sturge-weber-dimitri syndrome, sturge-weber-krabbe |
| Orphanet | |
| OMIM | |
| UMLS | C0038505 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:22) C0018916 | hemangioma | 8 C0017601 | glaucoma | 8 C0235752 | port-wine stain | 6 C0014544 | epilepsy | 2 C0149931 | migraine | 2 C0041341 | tuberous sclerosis | 1 C1263846 | attention deficit hyperactivity disorder | 1 C0022283 | hypomelanosis of ito | 1 C0014038 | encephalitis | 1 C0041341 | tuberous sclerosis complex | 1 C0085413 | autosomal dominant polycystic kidney disease | 1 C0018916 | hemangiomas | 1 C0020635 | hypopituitarism | 1 C0376480 | gingival enlargement | 1 C0020302 | congenital glaucoma | 1 C0038220 | status epilepticus | 1 C0022679 | cystic kidney | 1 C0022739 | klippel-trenaunay-weber syndrome | 1 C0085413 | autosomal dominant polycystic kidney | 1 C0003081 | anisometropia | 1 C1096063 | intractable epilepsy | 1 C0003857 | arteriovenous malformation | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1032 |
|---|---|
| Disease | sturge weber syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:10) C0017601 | glaucoma | 8 C0018916 | hemangioma | 7 C0346390 | choroidal hemangioma | 6 C0014544 | epilepsy | 2 C0018916 | hemangiomas | 1 C0376480 | gingival enlargement | 1 C0149893 | secondary glaucoma | 1 C1096063 | intractable epilepsy | 1 C0021888 | intraocular pressure | 1 C0020302 | childhood glaucoma | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs397514698 | 23656586 | 2776 | GNAQ | umls:C0038505 | BeFree | We identified a nonsynonymous single-nucleotide variant (c.548G→A, p.Arg183Gln) in GNAQ in samples of affected tissue from 88% of the participants (23 of 26) with the Sturge-Weber syndrome and from 92% of the participants (12 of 13) with apparently nonsyndromic port-wine stains, but not in any of the samples of affected tissue from 4 participants with an unrelated cerebrovascular malformation or in any of the samples from the 6 controls. | 0.480814326 | 2013 | GNAQ | 9 | 77797577 | C | T |
| rs397514698 | NA | 2776 | GNAQ | umls:C0038505 | CLINVAR | NA | 0.480814326 | NA | GNAQ | 9 | 77797577 | C | T |
| rs397514698 | 25374402 | 2776 | GNAQ | umls:C0038505 | BeFree | The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge-Weber syndrome. | 0.480814326 | 2014 | GNAQ | 9 | 77797577 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002120 | Cerebral cortical atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
Mapped by homologous gene(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0012222 | Arachnoid hemangiomatosis | MP:0011278 | increased ear pigmentation | visually detectable excess of pigment present in the outer ear |
| HP:0000557 | Buphthalmos | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000329 | Facial hemangioma | MP:0011400 | lethality, complete penetrance | all individuals of a given genotype in a population die before the end of the normal lifespan but time(s) of death are unspecified |
| HP:0002120 | Cerebral cortical atrophy | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001249 | Intellectual disability | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001250 | Seizures | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000256 | Macrocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0007872 | Choroidal hemangioma | MP:0011278 | increased ear pigmentation | visually detectable excess of pigment present in the outer ear |
| Disease ID | 1032 |
|---|---|
| Disease | sturge weber syndrome |
| Case | (Waiting for update.) |