{"orpha":248340,"name":"Isolated delta-storage pool disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated delta-SPD","Isolated dense-SPD","Isolated dense-storage pool disease"],"definition":"Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-248340/","orphanet_url":"https://www.orpha.net/en/disease/detail/248340","names":{"fr":{"name":"Déficit isolé de stockage des granules plaquettaires delta","synonyms":["Déficit isolé de stockage des granules plaquettaires denses"],"definition":"Thrombocytopénie constitutionnelle isolée rare caractérisé par une formation défectueuse et/ou un mauvais fonctionnement des granules denses des plaquettes, ainsi que des mélanosomes dans les cellules de la peau, entraînant des manifestations variables allant de saignements légers et de tendance aux ecchymoses à une diathèse hémorragique muco-cutanée modérée et à des complications hémorragiques après une intervention chirurgicale."},"de":{"name":"Delta-Storage-Pool-Krankheit, isolierte","synonyms":["Isolierte d-Storage-Pool-Krankheit","Isolierte delta-SPD","Isolierte dense-SPD"]},"es":{"name":"Enfermedad por depósito delta aislada","synonyms":["Deficiencia de almacenamiento de los gránulos densos","Delta-SPD aislada"],"definition":"Es una trombocitopenia constitucional aislada y poco frecuente, caracterizada por formación defectuosa y/o mal funcionamiento de gránulos densos de plaquetas, así como por melanosomas en las células de la piel. Da lugar a diferentes manifestaciones que varían desde sangrado leve y propensión a hematomas, hasta diátesis hemorrágica mucosa / cutánea moderada y complicaciones hemorrágicas postquirúrgicas."},"it":{"name":"Malattia isolata da accumulo di granuli delta","synonyms":["Difetto isolato del pool di deposito dei granuli densi","SPD isolata dei granuli densi","SPD isolato dei granuli delta"],"definition":"La malattia isolata da accumulo di granuli delta è una trombocitopenia costituzionale rara, caratterizzata da difetti nella formazione e/o nella funzionalità dei granuli piastrinici densi e dei melanosomi nelle cellule cutanee. I segni clinici sono variabili, con possibili lievi emorragie e la tendenza alle ecchimosi, fino alla diatesi emorragica moderata muco-cutanea e alle complicanze emorragiche secondarie agli interventi chirurgici."},"nl":{"name":"Geïsoleerde delta-storage pool ziekte","synonyms":["Geïsoleerde delta-SPD","Geïsoleerde dense-SPD","Geïsoleerde dense-storage pool ziekte"],"definition":"Geïsoleerde delta-storage pool ziekte is een zeldzame, geïsoleerde, constitutionele trombocytopenie die gekarakteriseerd wordt door een defecte vorming en/of verstoorde werking van dense granulen in bloedplaatjes, alsook melanosomen in huidcellen, met als gevolg variabele manifestaties gaande van milde bloeding en kneuzingen tot matige muceuze/cutane hemorragische diathese en bloedingscomplicaties na chirurgie."},"pt":{"name":"Doença pool de armazenamento delta isolado","synonyms":["Delta-SPD isolado","Denso-SPD isolado","Doença de acumulação densa isolada"]},"pl":{"name":"Zaburzenie puli magazynowej płytek krwi - izolowany defekt ziarnistości delta","synonyms":["Choroba puli magazynowej-izolowany defekt ziarnistości gęstych","Izolowana delta-SPD"],"definition":"*Zaburzenie puli magazynowej płytek krwi - izolowany defekt ziarnistości delta jest rzadką, izolowaną, konstytucyjną trombocytopenią, która charakteryzującym się wadliwym tworzeniem i/lub nieprawidłową funkcją ziarnistości zawartych w płytkach krwi, a także melanosomów w komórkach skóry, powodując różne objawy: od łagodnego krwawienia i łatwego siniaczenia do umiarkowanie nasilonej śluzówkowej/skórnej skazy krwotocznej oraz pooperacyjnych powikłań krwotocznych."},"cs":{"name":"Izolované střádání v delta granulích trombocytů","synonyms":["Izolované delta-SPD","Izolované denzní SPD","Izolované střádání v denzních granulích trombocytů"]},"uk":{"name":"Хвороба пулу ізольованого дельта-накопичувача","synonyms":["Ізольований дельта-SPD","Ізольований щільний SPD","Ізольована хвороба дельта-накопичувачів тромбоцитів"],"definition":"Isolated delta-storage pool disease is a rare, isolated, constitutional thrombocytopenia disorder characterized by defective formation and/or malfunction of platelet dense granules, as well as melanosomes in skin cells, resulting in variable manifestations ranging from mild bleeding and easy bruising to moderate mucous/cutaneous hemorrhagic diathesis and bleeding complications after surgery."},"zh":{"name":"孤立性δ-储存池病","synonyms":["孤立性δ-储存池病"],"definition":"δ-贮存池病是一种罕见的、孤立性的、组成性血小板减少症，其特征是血小板致密颗粒和皮肤细胞中的黑素体形成缺陷和/或功能障碍，导致多种临床表现，从轻度出血和易擦伤到中度粘膜/皮肤出血及术后出血并发症都可发生。"},"tr":{"name":"İzole delta-depolama havuzu hastalığı","synonyms":["İzole delta-SPD","İzole yoğun-SPD","İzole yoğun-depolama havuz hastalığı"]}},"xrefs":[{"source":"OMIM","code":"617443","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D69.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B62.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2133567182"},{"source":"MONDO","code":"0016630","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0032197","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":477797,"name":"Isolated constitutional thrombocytopenia","classifications":[156,194]}],"children":[],"genes":[{"symbol":"FLI1","name":"Fli-1 proto-oncogene, ETS transcription factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24100448[PMID]","hgnc":"3749","ensembl":"ENSG00000151702","omim":"193067","loci":["11q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Adolescent","Childhood","Infancy"],"prevalence":[],"phenotypes":null}