{"orpha":734,"name":"Alpha delta granule deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Alpha dense granule deficiency","Combined alpha-delta platelet storage pool deficiency"],"definition":"A rare hemorrhagic disorder due to a constitutional platelet anomaly characterized by moderate to severe deficiency in both platelet alpha-granules and dense bodies, resulting in impaired platelet function and decreased aggregation responses. Patients present increased bleeding tendency with symptoms like easy bruising, or menorrhagia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-734/","orphanet_url":"https://www.orpha.net/en/disease/detail/734","names":{"fr":{"name":"Déficit en granules alpha et delta","synonyms":["Maladie des pools vides"],"definition":"Maladie hémorragique rare, due à une anomalie plaquettaire constitutionnelle caractérisée par une déficience modérée à sévère à la fois des granules alpha et des corps denses plaquettaires à l'origine d'une altération de la fonction plaquettaire et d'une diminution des réponses d'agrégation. Les patients ont une tendance accrue aux saignements et aux symptômes tels que des ecchymoses ou des ménorragies."},"de":{"name":"Alpha- und Delta-Thrombozytengranula-Mangel","synonyms":["Alpha-und Dense-Granula-Defekt der Thrombozyten","Kombinierte Alpha-Delta-Storage-Pool-Krankheit"],"definition":"Eine seltene hämorrhagische Erkrankung, die auf einer konstitutionellen Thrombozytenanomalie beruht, die durch einen mäßigen bis schweren Mangel sowohl an Alpha-Granula als auch an Dense Bodies der Thrombozyten gekennzeichnet ist, was zu einer Beeinträchtigung der Thrombozytenfunktion und einer verminderten Aggregationsreaktion führt. Die Patienten zeigen eine erhöhte Blutungsneigung mit Symptomen wie leichten Blutergüssen oder Menorrhagie."},"es":{"name":"Deficiencia de gránulos alfa y delta","synonyms":["Deficiencia combinada alfa-delta de almacenamiento del pool plaquetario","Deficiencia de gránulos alfa y densos"],"definition":"Es un trastorno hemorrágico poco frecuente debido a una anomalía plaquetaria constitucional caracterizado por una deficiencia de moderada a grave de gránulos alfa y cuerpos densos plaquetarios, que resulta en una alteración de la función plaquetaria y una disminución de las respuestas de agregación. Los pacientes presentan una mayor tendencia al sangrado con síntomas como la aparición de hematomas o menorragia."},"it":{"name":"Deficit dei granuli alfa e delta","synonyms":["Deficit dei granuli alfa e densi"],"definition":"Si tratta di una malattia emorragica rara, secondaria ad un'anomalia costituzionale delle piastrine, caratterizzata dal deficit moderato-grave dei granuli alfa piastrinici e dei corpi densi, che esita nella compromissione della funzione delle piastrine e in una ridotta risposta alla loro aggregazione. I pazienti presentano una tendenza alle emorragie che si manifesta con la tendenza alle ecchimosi e la menorragia."},"nl":{"name":"Alfa-delta-granuledeficiëntie","synonyms":["Gecombineerde alfa-delta trombocyt storage pool-deficiëntie","Alfa-compacte granuledeficiëntie"],"definition":"Een zeldzame hemorragische aandoening door constitutionele anomalie van trombocyten, gekarakteriseerd door matige tot ernstige deficiëntie van zowel alfa-granules als dense granules van bloedplaatjes, wat resulteert in functiestoornis van bloedplaatjes en verminderde aggregatie. Patiënten vertonen verhoogde bloedingsneiging met symptomen als vatbaarheid voor kneuzing, of menorragie."},"pt":{"name":"Deficiência de grânulos alfa delta","synonyms":["Deficiência combinada de alfa-delta de armazenamento do pool plaquetário","Deficiência de grânulos alfa densos"]},"pl":{"name":"Niedobór ziarnistości alfa delta","synonyms":["Niedobór ziarnistości alfa"]},"cs":{"name":"Deficit alfa delta granul","synonyms":["Deficit alfa denzních granul"]},"uk":{"name":"Дефіцит альфа-дельта гранул","synonyms":["Дефіцит альфа-щільних гранул","Комбінований дефіцит альфа-дельта пулу зберігання тромбоцитів"],"definition":"A rare hemorrhagic disorder due to a constitutional platelet anomaly characterized by moderate to severe deficiency in both platelet alpha-granules and dense bodies, resulting in impaired platelet function and decreased aggregation responses. Patients present increased bleeding tendency with symptoms like easy bruising, or menorrhagia."},"zh":{"name":"αΔ颗粒缺乏","synonyms":["α-δ血小板贮池功能不足"]},"tr":{"name":"Alfa delta granül eksikliği","synonyms":["Alfa yoğun granül eksikliği","Kombine alfa-delta trombosit depolama havuzu eksikliği"]}},"xrefs":[{"source":"OMIM","code":"185050","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D69.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"3B62.4","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1557840180"},{"source":"MONDO","code":"0008495","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680090","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5034","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97992,"name":"Rare hematologic disease"},"parents":[{"orpha":477794,"name":"Syndromic constitutional thrombocytopenia","classifications":[156,194]}],"children":[],"genes":[{"symbol":"GFI1B","name":"growth factor independent 1B transcriptional repressor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28041820[PMID]","hgnc":"4238","ensembl":"ENSG00000165702","omim":"604383","loci":["9q34.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}