{"orpha":90307,"name":"Parkes Weber syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare congenital complex vascular malformation syndrome characterized by overgrowth of a limb (most commonly a leg) involving bones and soft tissue, in association with capillary malformations usually in the form of port-wine stains and multiple arteriovenous fistulas with high-flow arteriovenous shunting. The latter can also lead to other severe complications including abnormal bleeding and heart failure. Lymphatic malformations may also be present.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90307/","orphanet_url":"https://www.orpha.net/en/disease/detail/90307","names":{"fr":{"name":"Syndrome de Parkes Weber","definition":"Syndrome de malformation vasculaire complexe congénitale rare caractérisé par la croissance excessive d'un membre (le plus souvent une jambe), affectant les os et les tissus mous, en association avec des malformations capillaires prenant généralement la forme de taches de vin et de multiples fistules artérioveineuses avec dérivation artérioveineuse à haut débit. Ces dernières peuvent également entraîner d'autres complications sévères, dont des saignements anormaux et une insuffisance cardiaque. Des malformations lymphatiques peuvent également être présentes."},"de":{"name":"Parkes-Weber-Syndrom","definition":"Ein seltenes angeborenes komplexes vaskuläres Fehlbildungssyndrom, das durch ein Überwachstum einer Extremität (gewöhnlich eines Beines) mit Beteiligung von Knochen und Weichteilen gekennzeichnet ist, verbunden mit kapillären Fehlbildungen, gewöhnlich in Form von Feuermalen und multiplen arteriovenösen Fisteln mit arteriovenösem High-Flow-Shunt. Letztere können auch zu anderen schwerwiegenden Komplikationen wie abnormalen Blutungen und Herzinsuffizienz führen. Auch Lymphfehlbildungen können auftreten."},"es":{"name":"Síndrome de Parkes Weber","definition":"Es un síndrome poco frecuente de malformación vascular compleja congénita caracterizado por sobrecrecimiento de una extremidad (más comúnmente una pierna) que afecta al tejido óseo y blando en asociación con malformaciones capilares, generalmente en forma de manchas en vino de Oporto, y múltiples fístulas con derivaciones arteriovenosas de alto flujo. Esto último puede provocar otras complicaciones graves, como sangrado anómalo e insuficiencia cardíaca. También puede asociar malformaciones linfáticas."},"it":{"name":"Sindrome di Parkes Weber"},"nl":{"name":"Syndroom van Parkes Weber","definition":"Een zeldzaam congenitaal syndroom van complexe vasculaire malformatie, gekenmerkt door overgroei van een ledemaat (meestal een been) met betrokkenheid van bot en weke delen, in associatie met capillaire malformaties, meestal in de vorm van wijnvlekken en multipele arterioveneuze fistels met arterioveneuze shunts met hoge bloedstroom. Dit laatste kan ook leiden tot ernstige complicaties waaronder abnormale bloeding en hartfalen. Malformaties van lymfestelsel kunnen ook aanwezig zijn."},"pt":{"name":"Síndrome Parkes Weber","definition":"Síndrome rara de malformação vascular complexa congénita caracterizada por crescimento excessivo de um membro (mais comummente uma perna) envolvendo ossos e tecidos moles, em associação com malformações capilares, geralmente sob a forma de manchas vinho-do-Porto e múltiplas fístulas arteriovenosas com derivação arteriovenosa de alto fluxo. Estas últimas podem também levar a outras complicações graves, incluindo hemorragias anormais e insuficiência cardíaca. Também podem estar presentes malformações linfáticas."},"pl":{"name":"Zespół Parkesa i Webera","definition":"Rzadki wrodzony zespół złożonych malformacji naczyniowych charakteryzujący się przerostem kończyny (najczęściej dolnej) obejmującym kości i tkanki miękkie w połączeniu z malformacjami naczyń włosowatych, zwykle w postaci naczyniaków płaskich i licznych przetok tętniczo-żylnych z przeciekami tętniczo-żylnymi o dużym przepływie. To ostatnie może prowadzić do innych poważnych powikłań, w tym nieprawidłowych krwawień i niewydolności serca. Mogą również występować wady rozwojowe układu limfatycznego."},"cs":{"name":"Parkes Weberův syndrom"},"uk":{"name":"Синдром Паркеса Вебера","definition":"A rare congenital complex vascular malformation syndrome characterized by overgrowth of a limb (most commonly a leg) involving bones and soft tissue, in association with capillary malformations usually in the form of port-wine stains and multiple arteriovenous fistulas with high-flow arteriovenous shunting. The latter can also lead to other severe complications including abnormal bleeding and heart failure. Lymphatic malformations may also be present."},"zh":{"name":"Parkes Weber综合征"},"tr":{"name":"Parkes Weber sendromu"}},"xrefs":[{"source":"OMIM","code":"608354","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD26.60","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1412478956"},{"source":"MONDO","code":"0020783","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5574870","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"9787","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10075554","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":235832,"name":"Congenital vascular bone syndrome","classifications":[156,199]},{"orpha":459537,"name":"Genetic complex vascular malformation with associated anomalies","classifications":[156]},{"orpha":183478,"name":"Genetic skin vascular disorder","classifications":[156]},{"orpha":719955,"name":"Multifocal fast-flow vascular malformation","classifications":[147,198]},{"orpha":93460,"name":"Overgrowth syndrome","classifications":[147,156]},{"orpha":79379,"name":"Skin vascular disease","classifications":[187]},{"orpha":723427,"name":"Syndromic fast-flow vascular malformation","classifications":[147,198]},{"orpha":715466,"name":"Syndromic low resistance capillary malformation","classifications":[147,198]}],"children":[],"genes":[{"symbol":"RASA1","name":"RAS p21 protein activator 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18446851[PMID]_21348050[PMID]","hgnc":"9871","ensembl":"ENSG00000145715","omim":"139150","loci":["5q14.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-10-19","source":"28645597[PMID]_27511883[PMID]_31086946[PMID]_30852501[PMID]","terms":[{"hpo":"HP:0002814","label":"Abnormality of the lower limb","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100026","label":"Arteriovenous malformation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004947","label":"Arteriovenous fistula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032555","label":"Bounding pulse","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025104","label":"Capillary malformation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002617","label":"Dilatation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025474","label":"Erythematous plaque","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100553","label":"Hemihypertrophy of lower limb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001722","label":"High-output congestive heart failure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008968","label":"Muscle hypertrophy of the lower extremities","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100784","label":"Peripheral arteriovenous fistula","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007394","label":"Prominent superficial blood vessels","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002619","label":"Varicose veins","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004948","label":"Vascular tortuosity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012721","label":"Venous malformation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031138","label":"Abnormal B-type natriuretic peptide level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100766","label":"Abnormal lymphatic vessel morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006489","label":"Abnormality of the femoral metaphysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002817","label":"Abnormality of the upper limb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003418","label":"Back pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002408","label":"Cerebral arteriovenous malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100749","label":"Chest pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031939","label":"Conus terminalis arteriovenous malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005521","label":"Disseminated intravascular coagulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002936","label":"Distal sensory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100775","label":"Dural ectasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010484","label":"Hypertrophy of the upper limb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007340","label":"Lower limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012514","label":"Lower limb pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002196","label":"Myelopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030833","label":"Neck pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040189","label":"Scaling skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200042","label":"Skin ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003474","label":"Somatic sensory dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002390","label":"Spinal arteriovenous malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002138","label":"Subarachnoid hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000016","label":"Urinary retention","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007461","label":"Hemangiomatosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0010550","label":"Paraplegia","frequency":"Very rare (<4-1%)","criteria":null}]}}