{"orpha":722,"name":"Hypoplasminogenemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Plasminogen deficiency type 1"],"definition":"A rare multi-system disease characterized by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-722/","orphanet_url":"https://www.orpha.net/en/disease/detail/722","names":{"fr":{"name":"Déficit congénital en plasminogène","synonyms":["Déficit en plasminogène type 1"],"definition":"Maladie multisystémique rare caractérisée par une altération marquée de la fibrinolyse extracellulaire entraînant la formation de pseudo-membranes ligneuses (riches en fibrine) sur les muqueuses."},"de":{"name":"Hypoplasminogenämie","synonyms":["Plasminogen-Mangel Typ 1"],"definition":"Eine seltene Multisystemerkrankung, die durch eine stark beeinträchtigte extrazelluläre Fibrinolyse gekennzeichnet ist, die zur Bildung von lignösen (fibrinreichen) Pseudomembranen auf den Schleimhäuten führt."},"es":{"name":"Hipoplasminogenemia","synonyms":["Deficiencia de plasminógeno tipo 1"],"definition":"Es una enfermedad multisistémica poco frecuente caracterizada por una marcada alteración de la fibrinólisis extracelular que conduce a la formación de pseudomembranas leñosas (ricas en fibrina con aspecto de madera) en las mucosas."},"it":{"name":"Ipoplasminogenemia","synonyms":["Deficit di plasminogeno, tipo 1","Ipoplasminogenemia"],"definition":"L'ipoplasminogenemia (HPG) è una malattia multisistemica rara, caratterizzata dalla marcata compromissione della fibrinolisi extracellulare, che esita nella formazione di pseudomembrane dall'aspetto ligneo (ricche di fibrina) sulle mucose."},"nl":{"name":"Hypoplasminogenemie","synonyms":["Plasminogeendeficiëntie type 1"],"definition":"Een zeldzame multisystemische aandoening, gekenmerkt door aanzienlijk verstoorde extracellulaire fibrinolyse, wat leidt tot vorming van houtachtige (rijk aan fibrine) pseudomembranen op slijmvliezen."},"pt":{"name":"Deficiência congénita de plasminogénio","definition":"Doença multissistémica rara caracterizada por fibrinólise extracelular muito deficitária, levando à formação de pseudomembranas lenhosas (ricas em fibrina) nas mucosas."},"pl":{"name":"Hipoplazminogenemia","synonyms":["Niedobór plazminogenu typu 1"]},"cs":{"name":"Hypoplasminogenémie","synonyms":["Deficit plasminogenu, typ 1"]},"uk":{"name":"Гіпоплазміногенемія","synonyms":["Дефіцит плазміногену 1 типу"],"definition":"A rare multi-system disease characterized by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae."},"zh":{"name":"低纤溶酶原血症","synonyms":["纤溶酶原缺乏症1型"]},"tr":{"name":"Hipoplazminojenemi","synonyms":["Plazminojen eksikliği tip 1"]}},"xrefs":[{"source":"OMIM","code":"217090","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"L90.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DA0D.3","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1240776230"},{"source":"MONDO","code":"0009009","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1968804","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4380","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":97231,"name":"Ligneous conjunctivitis","status":"inactive"}],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":98610,"name":"Rare disorder with conjunctival involvement as a major feature","classifications":[189]},{"orpha":522542,"name":"Rare genetic disorder with conjunctival involvement as a major feature","classifications":[156]},{"orpha":271870,"name":"Rare genetic systemic or rheumatologic disease","classifications":[156]},{"orpha":68334,"name":"Rare hemorrhagic disorder due to a constitutional coagulation factors defect","classifications":[156,194]},{"orpha":182222,"name":"Rare systemic disease","classifications":[196]}],"children":[],"genes":[{"symbol":"PLG","name":"plasminogen","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16849641[PMID]","hgnc":"9071","ensembl":"ENSG00000122194","omim":"173350","loci":["6q26"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.16,"area":"Europe","status":"Validated","source":"32001536[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000504","label":"Abnormality of vision","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040228","label":"Decreased level of plasminogen","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000212","label":"Gingival overgrowth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000230","label":"Gingivitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011027","label":"Abnormality of the fallopian tube","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000370","label":"Abnormality of the middle ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000137","label":"Abnormality of the ovary","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002086","label":"Abnormality of the respiratory system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000951","label":"Abnormality of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030160","label":"Cervicitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002588","label":"Duodenal ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000704","label":"Periodontitis","frequency":"Occasional (29-5%)","criteria":null}]}}