{"orpha":2903,"name":"Familial spontaneous pneumothorax","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2903/","orphanet_url":"https://www.orpha.net/en/disease/detail/2903","names":{"fr":{"name":"Pneumothorax spontané familial","definition":"Une maladie génétique pulmonaire rare, caractérisée par l'accumulation unilatérale ou bilatérale d'air dans la cavité pleurale chez des individus ayant des antécédents familiaux positifs, sans maladie pulmonaire sous-jacente ou de traumatisme thoracique antérieur. Les patients présentent habituellement une dyspnée et la survenue soudaine d'une douleur thoracique pleurétique vive et constante, de sévérité variable (qui se résout dans les 24h même si le pneumothorax est toujours présent). Une tachycardie réflexe et/ou un compromis respiratoire ou circulatoire peuvent s'observer. D'autres syndromes (comme le syndrome de Birt-Hogg-Dubé, de Marfan ou d'Ehlers-Danlos) peuvent être associés."},"de":{"name":"Spontanpneumothorax, familiärer","definition":"Der familiäre Spontanpneumothorax ist eine seltene, genetisch bedingte Lungenerkrankung, die durch die ein- oder beidseitige Ansammlung von Luft in der Pleurahöhle bei Personen mit positiver Familienanamnese und ohne zugrundeliegende Lungenerkrankung oder vorheriges Thoraxtrauma gekennzeichnet ist. Die Patienten zeigen typischerweise Dyspnoe in Verbindung mit akut einsetzenden, scharfen und stetigen pleuritische Brustschmerzen unterschiedlicher Schwere (die innerhalb von 24 Stunden abklingen, obwohl der Pneumothorax noch vorhanden ist). Reflexartige Tachykardie und/oder eine Beeinträchtigung der Atmung oder des Kreislaufs können beobachtet werden. Andere Syndrome (z. B. Birt-Hogg-Dube-, Marfan- oder Ehlers-Danlos-Syndrome) können assoziiert sein."},"es":{"name":"Neumotórax espontáneo familiar","definition":"Es una enfermedad pulmonar genética poco frecuente, caracterizada por la acumulación, uni- o bilateral, de aire en la cavidad pleural de personas con antecedentes familiares positivos y sin enfermedad pulmonar subyacente o trauma torácico previo. Por lo general, los afectados presentan disnea asociada con un intenso dolor torácico pleutírico constante, de inicio agudo y gravedad variable (que se resuelve en 24 h, aunque el neumotórax aún siga presente). Se puede observar taquicardia refleja y/o compromiso respiratorio o circulatorio. Pueden estar asociados otros síndromes, como por ejemplo, los síndromes de Birt-Hogg-Dube, Marfan o Ehlers-Danlos."},"it":{"name":"Pneumotorace spontaneo familiare","definition":"Lo pneumotorace spontaneo familiare è una malattia rara del polmone, di origine genetica, caratterizzata da accumulo mono- o bilaterale di aria nella cavità pleurica, in pazienti con anamnesi familiare positiva, in assenza di patologie polmonari o di pregressi traumi toracici. Di solito i pazienti presentano dispnea associata a dolore toraco-pleurico intenso e costante ad esordio acuto, di intensità variabile, che scompare nell'arco di 24 ore, anche se persiste lo pneumotorace. Può essere presente tachicardia riflessa e/o compromissione respiratoria o circolatoria. Può associarsi ad altre sindromi (Birt-Hogg-Dube, Marfan o Ehlers-Danlos)."},"nl":{"name":"Familiale spontane pneumothorax","synonyms":["Familiale spontane klaplong"],"definition":"Familiale spontane pneumothorax is een zeldzame, genetische pulmonale ziekte die gekarakteriseerd wordt door de uni- of bilaterale accumulatie van lucht in de pleuraholte bij personen met een positieve familiegeschiedenis en zonder onderliggende longziekte of voorafgaand borsttrauma. Patiënten vertonen doorgaans dyspneu geassocieerd met acute aanvang van scherpe en constante pleuritische pijn in de borst met variabele gradaties van ernst (die verdwijnt binnen 24 uur hoewel pneumothorax nog aanwezig is). Reflextachycardie en/of aantasting van de ademhaling of de circulatie kunnen waargenomen worden. Andere syndromen (e.g. syndromen van Birt-Hogg-Dube, Marfan of Ehlers-Danlos) kunnen geassocieerd zijn."},"pt":{"name":"Pneumotórax espontâneo tipo familiar"},"pl":{"name":"Rodzinna spontaniczna odma opłucnowa"},"cs":{"name":"Familiární spontánní pneumotorax"},"uk":{"name":"Сімейний спонтанний пневмоторакс","definition":"Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be associated."},"zh":{"name":"家族性自发性气胸"},"tr":{"name":"Ailesel spontan pnömotoraks"}},"xrefs":[{"source":"OMIM","code":"173600","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"J93.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"CB21.1","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"319022944"},{"source":"MONDO","code":"0008259","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4275252","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4997","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":156610,"name":"Rare genetic respiratory disease","classifications":[156]},{"orpha":101944,"name":"Rare pulmonary disease","classifications":[184]}],"children":[],"genes":[{"symbol":"FLCN","name":"folliculin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15657874[PMID]_18505456[PMID]","hgnc":"27310","ensembl":"ENSG00000154803","omim":"607273","loci":["17p11.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":54.64,"area":"Finland","status":"Validated","source":"22643181[PMID]_21364698[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002103","label":"Abnormality of the pleura","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002086","label":"Abnormality of the respiratory system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002107","label":"Pneumothorax","frequency":"Very frequent (99-80%)","criteria":null}]}}