{"orpha":217467,"name":"Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hereditary thrombophilia due to congenital HRG deficiency"],"definition":"A rare, genetic, coagulation disorder characterized by a tendency to develop thrombosis, resulting from decreased histidine-rich glycoprotein (HRG) plasma levels. Manifestations are variable depending on location of thrombosis, but may include headaches, diplopia, progressive pain, limb swelling, itching or ulceration, and brownish skin discoloration, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-217467/","orphanet_url":"https://www.orpha.net/en/disease/detail/217467","names":{"fr":{"name":"Thrombophilie héréditaire due au déficit congénital en histidine-rich (poly-L) glycoprotéine","synonyms":["Thrombophilie héréditaire due au déficit congénital en HRG"],"definition":"Coagulopathie rare d'origine génétique caractérisée par une tendance à la thrombose, résultant d'une diminution des taux plasmatiques de glycoprotéine riche en histidine (HRG). Les manifestations varient en fonction de la localisation de la thrombose, mais peuvent inclure, entre autres, des maux de tête, une diplopie, une douleur progressive, un gonflement des membres, des démangeaisons ou une ulcération, ainsi qu'une coloration brunâtre de la peau."},"de":{"name":"Thrombophilie, hereditäre, durch kongenitalen Mangel des Histidin-reichen (poly-L) Glykoproteins","synonyms":["Thrombophilie, hereditäre, durch kongenitalen HRG-Mangel"]},"es":{"name":"Trombofilia hereditaria por deficiencia congénita de glicoproteína rica en histidina (poli-L)","synonyms":["Trombofilia hereditaria por deficiencia congénita de HRG"],"definition":"Es un trastorno genético y poco frecuente de la coagulación caracterizado por una tendencia a desarrollar trombosis como resultado de la disminución de los niveles plasmáticos de glicoproteína rica en histidina (HRG). Las manifestaciones son variables en función de la localización de la trombosis y pueden incluir cefalea, diplopía, dolor progresivo, tumefacción en las extremidades, prurito o ulceración y pigmentación cutánea pardusca, entre otros signos."},"it":{"name":"Trombofilia ereditaria da deficit congenito della glicoproteina ricca in istidina (poli-L)","synonyms":["Trombofilia ereditaria da deficit congenito di HRG"],"definition":"La trombofilia ereditaria da deficit congenito della glicoproteina ricca in istidina (poli-L) è un difetto genetico raro della coagulazione, caratterizzato dalla tendenza a sviluppare trombosi, secondario ad una riduzione dei livelli della glicoproteina ricca in istidina (HRG) nel plasma. I segni clinici sono variabili e dipendono dalla localizzazione della trombosi; di solito comprendono la cefalea, la diplopia, il dolore progressivo, il gonfiore degli arti, il prurito o l'ulcerazione e la depigmentazione della cute che assume un colore tendente al marrone."},"nl":{"name":"Erfelijke trombofilie als gevolg van congenitale histidine-rijke (poly-L) glycoproteïnedeficiëntie","synonyms":["Erfelijke trombofilie als gevolg van congenitale HRG-deficiëntie"],"definition":"Erfelijke trombofilie als gevolg van congenitale histidine-rijk (poly-L) glycoproteïnedeficiëntie is een zeldzame, genetische coagulatiestoornis die gekarakteriseerd wordt door een neiging tot ontwikkeling van trombose als gevolg van verlaagde gehaltes van histidine-rijk glycoproteïne (HRG) in het plasma. Manifestaties zijn variabel, afhankelijk van de locatie van trombose, maar omvatten mogelijk onder meer hoofdpijn, diplopie, progressieve pijn, zwelling van ledematen, jeuk of ulceratie, en bruinige verkleuring van de huid."},"pt":{"name":"Trombofilia hereditária por deficiência congénita da glicoproteina rica em histidina (poly-L)"},"pl":{"name":"Dziedziczna trombofilia z powodu wrodzonego niedoboru glikoproteiny bogatej w histydynę (poli-L)","synonyms":["Dziedziczna trombofilia z powodu wrodzonego niedoboru HRG"]},"cs":{"name":"Hereditární trombofilie způsobená vrozeným deficitem poly-L glykoproteinu bohatého na histidin","synonyms":["Hereditární trombofilie z vrozeného nedostatku HRG"]},"uk":{"name":"Спадкова тромбофілія внаслідок вродженого дефіциту глікопротеїнів, багатих на гістидин (полі-L)","synonyms":["Спадкова тромбофілія внаслідок вродженого дефіциту HRG"],"definition":"A rare, genetic, coagulation disorder characterized by a tendency to develop thrombosis, resulting from decreased histidine-rich glycoprotein (HRG) plasma levels. Manifestations are variable depending on location of thrombosis, but may include headaches, diplopia, progressive pain, limb swelling, itching or ulceration, and brownish skin discoloration, among others."},"zh":{"name":"先天性富组氨酸糖蛋白缺陷所致遗传性血栓形成","synonyms":["先天性HRG缺陷所致遗传性血栓形成"],"definition":"遗传性富组氨酸糖蛋白（poly-L）缺乏性易栓症形成是一种罕见的遗传性凝血障碍，其特征是血浆中富组氨酸糖蛋白（HRG）水平降低，从而导致血栓容易形成。根据血栓形成的部位不同，其表现形式也不尽相同，可能包括头痛、复视、进行性疼痛、肢体肿胀、瘙痒或溃疡，以及皮肤颜色变褐等。"},"tr":{"name":"Doğumsal histidinden zengin (poli-L) glikoprotein eksikliğine bağlı kalıtsal trombofili","synonyms":["Doğumsal HRG eksikliğine bağlı kalıtsal trombofili"]}},"xrefs":[{"source":"OMIM","code":"613116","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D68.5","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B61.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1764310021"},{"source":"MONDO","code":"0013143","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190887","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":217454,"name":"Rare hereditary thrombophilia","classifications":[156,194,196,199]}],"children":[],"genes":[{"symbol":"HRG","name":"histidine rich glycoprotein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"9414276[PMID]","hgnc":"5181","ensembl":"ENSG00000113905","omim":"142640","loci":["3q27.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}