{"orpha":568051,"name":"GJC2-related late-onset primary lymphedema","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-568051/","orphanet_url":"https://www.orpha.net/en/disease/detail/568051","names":{"fr":{"name":"Lymphoedème primaire tardif associé à GJC2","definition":"Lymphoedème primaire rare d'origine génétique caractérisé par un lymphoedème des quatre membres, pouvant apparaître de la naissance à l'âge adulte. La sévérité des manifestations varie, les membres supérieurs pouvant n'être atteints qu'à un stade plus tardif de la maladie. Des épisodes récurrents de cellulite et d'infections cutanées sont observés dans les cas sévères. Des varices et une insuffisance veineuse ont été rapportées en association."},"de":{"name":"GJC2-assoziiertes spät-beginnendes primäres Lymphödem","definition":"Ein seltenes genetisch bedingtes primäres Lymphödem, das durch Lymphödeme in allen vier Gliedmaßen gekennzeichnet ist und im Alter von der Geburt bis zum Erwachsenenalter auftritt. Die Manifestationen sind von unterschiedlicher Schwere, und die oberen Gliedmaßen können erst später im Krankheitsverlauf betroffen sein. In schweren Fällen werden wiederkehrende Episoden von Zellulitis und Hautinfektionen beobachtet. Krampfadern und Veneninsuffizienz wurden in Zusammenhang mit der Erkrankung berichtet."},"es":{"name":"Linfedema primario de inicio tardío asociado al gen GJC2","definition":"Es un linfedema primario de origen genético poco frecuente caracterizado por linfedema en todas las extremidades con una edad de inicio variable desde el nacimiento hasta la edad adulta. Las manifestaciones presentan una gravedad variable y la afectación de las extremidades superiores puede presentarse únicamente en etapasa avanzadas de la enfermedad. En casos graves, se observa episodios recurrentes de celulitis y de infecciones cutáneas. Se ha descrito la asociación con venas varicosas e incompetencia venosa."},"it":{"name":"Linfedema primitivo ad esordio tardivo correlato a GJC2","definition":"Si tratta di un linfedema primitivo genetico raro, caratterizzato da linfedema nei quattro gli arti che esordisce tra la nascita e l'età adulta. I segni clinici sono di gravità variabile; l'interessamento degli arti superiori può manifestarsi anche successivamente durante il decorso della malattia. Nei casi più gravi, si osservano episodi ricorrenti di cellulite e infezioni cutanee. I pazienti possono presentare anche vene varicose e insufficienza venosa."},"nl":{"name":"GJC2-gerelateerd primair lymfoedeem met late aanvang","definition":"Een zeldzaam, genetisch primair lymfoedeem, gekarakteriseerd door lymfoedeem in alle vier de ledematen met een aanvangsleeftijd gaande van de geboorte tot de volwassenheid. Manifestaties hebben variabele gradaties van ernst, en betrokkenheid van bovenste ledematen treedt mogelijk pas later in het ziekteverloop op. Recidiverende episodes van cellulitis en huidinfecties worden waargenomen in ernstige gevallen. Associatie van spataders en veneuze insufficiëntie werd ook reeds gerapporteerd."},"pt":{"name":"Linfedema primário de início tradio GJC2-relacionado"},"pl":{"name":"Obrzęk limfatyczny o późnym początku związany z GJC2"},"cs":{"name":"GJC2-vázaný primární lymfedém s pozdním nástupem"},"uk":{"name":"Пізня первинна лімфедема, повязана з GJC2, з пізнім початком","definition":"A rare genetic primary lymphedema characterized by lymphedema of all four limbs with age of onset ranging from birth to adulthood. Manifestations are of variable severity, and upper limb involvement may develop only later in the disease course. Recurrent episodes of cellulitis and skin infections are observed in severe cases. Varicose veins and venous incompetence have been reported in association."},"zh":{"name":"GJC2基因相关的晚发型原发性淋巴水肿"},"tr":{"name":"GJC2-ilişkili geç başlangıçlı primer lenfödem"}},"xrefs":[{"source":"OMIM","code":"613480","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q82.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0035472","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681305","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":289825,"name":"Late-onset primary lymphedema without systemic or visceral involvement","classifications":[147,156,187,198]}],"children":[],"genes":[{"symbol":"GJC2","name":"gap junction protein gamma 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29906362[PMID]_20537300[PMID]","hgnc":"17494","ensembl":"ENSG00000198835","omim":"608803","loci":["1q42.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29906362[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-06-30","source":"21266381[PMID]_20537300[PMID]_30061138[PMID]","terms":[{"hpo":"HP:0100766","label":"Abnormal lymphatic vessel morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001785","label":"Ankle swelling","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003759","label":"Hypoplasia of lymphatic vessels","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010741","label":"Pedal edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003550","label":"Predominantly lower limb lymphedema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100658","label":"Cellulitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007514","label":"Edema of the dorsum of hands","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000282","label":"Facial edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001581","label":"Recurrent skin infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002619","label":"Varicose veins","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005293","label":"Venous insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031188","label":"Genital edema","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very rare (<4-1%)","criteria":null}]}}