{"orpha":101351,"name":"Familial isolated congenital asplenia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-101351/","orphanet_url":"https://www.orpha.net/en/disease/detail/101351","names":{"fr":{"name":"Asplénie congénitale familiale isolée","definition":"L'asplénie congénitale familiale est une malformation viscérale rare non syndromique, mettant potentiellement en jeu le pronostic vital. Elle se caractérise par une atteinte de la fonction splénique, conduisant à une immunodéficience primaire. La maladie se manifeste habituellement par des infections sévères, redoutables et récurrentes (surtout le sepsis à pneumocoque) chez des nourrissons paraissant en bonne santé. Chez les adultes sans antécédent de sepsis sévère dans la petite enfance, le signe de présentation peut être une thrombocytose. Les signes associés hautement suggestifs de la maladie sont la présence de corps de Howell-Jolly sur frottis sanguin, et l'absence de la rate à l'échographie abdominale."},"de":{"name":"Asplenie, familiäre isolierte, kongenitale","definition":"Die familiäre isolierte kongenitale Asplenie ist eine seltene, nicht-syndromale, potenziell lebensbedrohliche viszerale Fehlbildung, die durch das Fehlen einer normalen Milzfunktion gekennzeichnet ist und zu einem primären Immundefekt führt. Typischerweise manifestiert sich der Zustand mit schweren, wiederkehrenden, schwerwiegenden Infektionen (insbesondere Pneumokokken-Sepsis) bei ansonsten scheinbar gesunden Säuglingen. Bei Erwachsenen, die keine schwere Sepsis im Säuglingsalter hatten, kann eine Thrombozytose das erste Anzeichen sein. Howell-Jolly-Körper im Blutausstrich und eine fehlende Milz in der abdominalen Ultraschalluntersuchung sind höchst suggestive Begleitbefunde."},"es":{"name":"Asplenia congénita familiar aislada","definition":"La asplenia congénita aislada familiar es una malformación visceral no sindrómica poco frecuente y potencialmente letal, caracterizada por la ausencia de una función esplénica normal, resultando en una inmunodeficiencia primaria. Típicamente, la enfermedad se manifiesta con infecciones abrumadoras, graves y recurrentes (especialmente sepsis neumocócica) en lactantes sin otra patología médica previa. En adultos sin un historial médico de sepsis grave en la infancia, la trombocitosis puede ser el signo de presentación. La presencia de cuerpos de Howell-Jolly en frotis de sangre y la ausencia de bazo en un examen mediante ecografía abdominal, son hallazgos asociados altamente sugerentes de esta enfermedad."},"it":{"name":"Asplenia congenita isolata familiare","definition":"L'asplenia congenita isolata familiare è una malformazione viscerale rara, non sindromica e potenzialmente letale, caratterizzata dalla mancanza della normale funzione della milza, che esita nell'immunodeficienza primitiva. Di solito la malattia esordisce con infezioni gravi, ricorrenti e difficili da controllare (soprattutto la sepsi da pneumococco) nei neonati peraltro apparentemente sani. Negli adulti che non presentano anamnesi positiva per sepsi gravi durante l'infanzia, la malattia può esordire con la trombocitosi. La presenza di corpi di Howell-Jolly negli strisci di sangue e l'assenza della milza evidenziata con l'ecografia addominale suggeriscono la diagnosi."},"nl":{"name":"Familiale geïsoleerde congenitale asplenie","definition":"Familiale geïsoleerde congenitale asplenie is een zeldzame, niet-syndromale, potentieel levensbedreigende viscerale malformatie die gekarakteriseerd wordt door een niet normaal functionerende milt, met een immunodeficiëntie tot gevolg. Doorgaans manifesteert de aandoening zich met ernstige, terugkerende, overweldigende infecties (vooral pneumokokkensepsis) bij voor het overige gezond lijkende zuigelingen. Bij volwassenen zonder een voorgeschiedenis van ernstige sepsis in de zuigelingentijd kan trombocytose het symptoom zijn. Geassocieerde bevindingen die een sterke aanwijzing voor de ziekte zijn, zijn Howell-Jolly-lichaampjes in dikkedruppelpreparaten en afwezigheid van de milt bij echografie van de buikholte."},"pt":{"name":"Asplenia"},"pl":{"name":"Rodzinna izolowana wrodzona asplenia"},"cs":{"name":"Familiární vrozená izolovaná asplenie"},"uk":{"name":"Сімейна ізольована вроджена аспленія","definition":"Familial isolated congenital asplenia is a rare, non-syndromic, potentially life-threatening visceral malformation characterized by the absence of normal spleen function, resulting in a primary immunodeficiency. Typically, the condition manifests with severe, recurrent, overwhelming infections (especially pneumococcal sepsis) in otherwise apparently healthy infants. In adults with no history of severe sepsis in infancy, thrombocytosis may be the presenting sign. Howell-Jolly bodies on blood smears and an absent spleen on abdominal ultrasound examination are highly suggestive associated findings."},"zh":{"name":"家族性散发性先天性无脾症","definition":"家族性孤立性先天性脾不全是一种罕见的、非综合征的、潜在威胁生命的内脏畸形，其特征是缺乏正常的脾功能，导致原发性免疫缺陷。通常情况下，表现为在其他系统明显健康的婴儿中严重的、反复的、压倒性的感染(特别是肺炎球菌败血症)。在没有婴儿期严重脓毒症病史的成年人中，血小板增多可能是主要症状。血涂片上的Howell-Jolly小体和腹部超声检查中的脾脏缺失是高度提示作用的相关发现。"},"tr":{"name":"Ailesel izole Doğumsal aspleni"}},"xrefs":[{"source":"OMIM","code":"271400","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q89.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LB22.0","qualifier":"NTBT","icd_relation":"specific","validated":true,"icd11_uri":"605819742"},{"source":"MONDO","code":"0010066","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4512055","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":108971,"name":"Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen","classifications":[147,156,182,233]},{"orpha":331193,"name":"Other immunodeficiency syndromes due to defects in innate immunity","classifications":[156,195]}],"children":[],"genes":[{"symbol":"NKX2-5","name":"NK2 homeobox 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22560297[PMID]","hgnc":"2488","ensembl":"ENSG00000183072","omim":"600584","loci":["5q35.1"]},{"symbol":"RPSA","name":"ribosomal protein SA","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23579497[PMID]","hgnc":"6502","ensembl":"ENSG00000168028","omim":"150370","loci":["3p22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":[],"prevalence":[],"phenotypes":null}