{"orpha":73,"name":"Gorham-Stout disease","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Gorham disease","Gorham syndrome","Idiopathic massive osteolysis","Progressive massive osteolysis","Vanishing bone disease"],"definition":"Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-73/","orphanet_url":"https://www.orpha.net/en/disease/detail/73","names":{"fr":{"name":"Maladie de Gorham-Stout","synonyms":["Maladie de Gorham","Maladie de la disparition des os","Ostéolyse idiopathique massive","Ostéolyse massive progressive","Syndrome de Gorham"],"definition":"Ostéolyse massive rare associée à la prolifération et à la dilatation des vaisseaux lymphatiques. La maladie de Gorham-Stout (MGS) peut être monostotique ou polyostotique et affecter tout os du corps. Les symptômes au moment de la présentation dépendent de la localisation de la maladie, le plus courant d'entre eux étant une douleur localisée. La maladie peut être diagnostiquée à la suite d'une fracture pathologique."},"de":{"name":"Gorham-Stout-Krankheit","synonyms":["Gorham-Krankheit","Gorham-Syndrom","Osteolyse, essentielle progrediente","Osteolyse, idiopathische massive","Vanishing-Bone-Krankheit"],"definition":"Die Gorham-Stout-Krankheit (GSD) ist eine seltene Erkrankung mit massiver Osteolyse, die mit einer Proliferation und Dilatation von Lymphgefäßen einhergeht. Die GSD kann jeden Knochen des Körpers betreffen und kann monostotisch oder polyostotisch sein. Die Symptome hängen von der Lokalisation der Erkrankung ab; das häufigste Symptom sind lokale Schmerzen. Die Krankheit kann nach einer pathologischen Fraktur entdeckt werden."},"es":{"name":"Enfermedad de Gorham-Stout","synonyms":["Enfermedad de Gorham","Enfermedad del hueso evanescente","Osteólisis masiva idiopática","Osteólisis masiva progresiva","Síndrome de Gorham"],"definition":"La enfermedad de Gorham-Stout (EGS) es una enfermedad rara con una osteolisis importante asociada a proliferación y dilatación de los vasos linfáticos. La EGS puede afectar a cualquier hueso del cuerpo y puede ser monostótica o poliostótica. Los síntomas a la presentación dependen de la localización de la enfermedad, siendo el más común el dolor localizado. La enfermedad puede ser diagnosticada a consecuencia de una fractura patológica."},"it":{"name":"Malattia di Gorham-Stout","synonyms":["Malattia dell'osso che scompare","Malattia di Gorham","Osteolisi massiva idiopatica","Osteolisi massiva progressiva","Sindrome di Gorham"],"definition":"La malattia di Gorham-Stout (GSD) è una malattia rara da osteolisi massiva associata alla proliferazione e alla dilatazione dei vasi linfatici. La GSD può interessare qualsiasi osso del corpo e può essere monostotica o poliostotica. I sintomi di esordio dipendono dal(-i) sito(-i) della malattia; il sintomo più comune è il dolore localizzato. La malattia può essere identificata dopo una frattura patologica."},"nl":{"name":"Ziekte van Gorham-Stout","synonyms":["Fantoombotziekte","Gorhamsyndroom","Idiopathische massieve osteolyse","Progressieve massieve osteolyse","Verdwijnend bot-ziekte","Ziekte van Gorham"],"definition":"De ziekte van Gorham-Stout (GSD) is een zeldzame ziekte van massieve osteolyse geassocieerd met de proliferatie en dilatatie van lymfevaten. GSD kan elk bot in het lichaam aantasten en kan monostotisch of polyostotisch zijn. De symptomen bij de presentatie zijn afhankelijk van de lokatie(s) van de ziekte; het meest voorkomende symptoom is gelokaliseerde pijn. De ziekte kan ontdekt worden na een pathologische fractuur."},"pt":{"name":"Doença Gorham-Stout","synonyms":["Doença Gorham","Síndrome Gorham"]},"pl":{"name":"Choroba Gorhama i Stouta","synonyms":["Choroba Gorhama","Choroba znikających kości","Idiopatyczna masywna osteoliza","Postępująca masywna osteoliza","Zespół Gorhama"]},"cs":{"name":"Gorhamova-Stoutova choroba","synonyms":["Gorhamova nemoc","Idiopatická masivní osteolýza","Progresivní masivní osteolýza","Nemoc mizející kosti","Gorhamův syndrom","Gorham-Stoutova choroba"]},"uk":{"name":"Хвороба Горхема-Стаута","synonyms":["Хвороба Горхема","Синдром Горхема","Ідіопатичний масивний остеоліз","Прогресуючий масивний остеоліз","Зникаюча хвороба кісток"],"definition":"Gorham-Stout disease (GSD) is a rare disease of massive osteolysis associated with proliferation and dilation of lymphatic vessels. GSD may affect any bone in the body and can be monostotic or polyostotic. Symptoms at presentation are dependent upon the location(s) of the disease; the most common symptom is localized pain. The disease may be discovered after a pathological fracture."},"zh":{"name":"骨溶解症","synonyms":["进展性大块骨质溶解症"]},"tr":{"name":"Gorham-Stout hastalığı","synonyms":["Gorham hastalığı","Gorham sendromu","Kaybolan kemik hastalığı","İdiyopatik masif osteoliz","İlerleyici masif osteoliz"]}},"xrefs":[{"source":"OMIM","code":"123880","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"M89.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"FB86.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1318015458"},{"source":"MONDO","code":"0007414","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0029438","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6542","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10071283","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":719950,"name":"Complex lymphatic anomaly","classifications":[147,198]},{"orpha":235832,"name":"Congenital vascular bone syndrome","classifications":[156,199]},{"orpha":93450,"name":"Primary bone dysplasia with disorganized development of skeletal components","classifications":[147,156,199]},{"orpha":486955,"name":"Rare pediatric rheumatologic disease","classifications":[231]},{"orpha":182231,"name":"Rare rheumatologic disease","classifications":[196]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":300.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]_20972870[PMID]_23897792[PMID]_25227772[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-01-07","source":"25405099[PMID]_28004375[PMID]_27829197[PMID]","terms":[{"hpo":"HP:0010639","label":"Elevated alkaline phosphatase of bone origin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010657","label":"Patchy reduction of bone mineral density","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011849","label":"Abnormal bone ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011821","label":"Abnormality of facial skeleton","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002683","label":"Abnormality of the calvaria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003319","label":"Abnormality of the cervical spine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011384","label":"Abnormality of the internal auditory canal","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012294","label":"Abnormality of the occipital bone","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010754","label":"Abnormality of the temporomandibular joint","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002653","label":"Bone pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005731","label":"Cortical irregularity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005216","label":"Impaired mastication","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100764","label":"Lymphangioma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0200025","label":"Mandibular pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009139","label":"Osteolysis involving bones of the lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0045039","label":"Osteolysis involving bones of the upper limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031417","label":"Rhinorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000473","label":"Torticollis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0430005","label":"Abnormality of ethmoid bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002823","label":"Abnormality of femur morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001167","label":"Abnormality of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0045027","label":"Abnormality of the thoracic cavity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007099","label":"Chiari type I malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007461","label":"Hemangiomatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000265","label":"Mastoiditis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002756","label":"Pathologic fracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002202","label":"Pleural effusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040163","label":"Abnormal pelvis bone morphology","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001287","label":"Meningitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002754","label":"Osteomyelitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002176","label":"Spinal cord compression","frequency":"Very rare (<4-1%)","criteria":null}]}}