{"orpha":440987,"name":"Isolated agenesis of gallbladder","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare biliary tract disease characterized by congenital absence of the gallbladder and cystic duct. The majority of patients are asymptomatic. Possible clinical manifestations include abdominal pain and tenderness in the right upper quadrant, nausea, vomiting, fatty food intolerance, and jaundice. Frequency of choledocholithiasis is increased significantly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-440987/","orphanet_url":"https://www.orpha.net/en/disease/detail/440987","names":{"fr":{"name":"Agénésie isolée de la vésicule biliaire","definition":"Maladie rare des voies biliaires caractérisée par l'absence congénitale de la vésicule biliaire et du canal cystique. La majorité des patients sont asymptomatiques. Les signes cliniques incluent une douleur abdominale et une sensibilité dans le quadrant abdominal supérieur droit, des nausées, des vomissements, une intolérance aux aliments gras et un ictère. La fréquence d'apparition d'une lithiase cholédocienne est augmentée de manière significative."},"de":{"name":"Gallenblasenagenesie, isolierte","definition":"Eine seltene Erkrankung der Gallenwege, die durch das angeborene Fehlen der Gallenblase und des Gallengangs gekennzeichnet ist. Die Mehrzahl der Patienten ist asymptomatisch. Zu den möglichen klinischen Manifestationen gehören Bauchschmerzen und Druckempfindlichkeit im rechten oberen Quadranten, Übelkeit, Erbrechen, Unverträglichkeit fetthaltiger Nahrungsmittel und Gelbsucht. Die Häufigkeit der Choledocholithiasis ist deutlich erhöht."},"es":{"name":"Agenesia aislada de la vesícula biliar","definition":"Es una enfermedad de las vías biliares poco frecuente caracterizada por la ausencia congénita de la vesícula biliar y del conducto cístico. La mayoría de los pacientes están asintomáticos. Las posibles manifestaciones clínicas incluyen dolor abdominal y dolor a la palpación en el hipocondrio derecho, náuseas, vómitos, intolerancia a las grasas e ictericia. La frecuencia de coledocolitiasis está significativamente incrementada."},"it":{"name":"Agenesia isolata della cistifellea","definition":"Si tratta di una malattia rara delle vie biliari, caratterizzata dall'agenesia congenita della cistifellea e del dotto cistico. La maggior parte dei pazienti è asintomatica. I segni clinici possono comprendere il dolore e la pastosità nel quadrante superiore destro dell'addome, la nausea, il vomito, l'intolleranza ai cibi grassi e l'ittero. È significativamente aumentata la coledocolitiasi."},"nl":{"name":"Geïsoleerde agenesie van galblaas","definition":"Een zeldzame aandoening van galwegen, gekarakteriseerd door congenitale afwezigheid van galblaas en galblaasafvoergang. De meerderheid van de patiënten is asymptomatisch. Mogelijke klinische manifestaties zijn onder meer abdominale pijn en gevoeligheid in het rechter bovenkwadrant, misselijkheid, braken, intolerantie voor vettig voedsel, en geelzucht. De frequentie van choledocholithiasis is significant verhoogd."},"pt":{"name":"Agenesia isolada da vesicula biliar"},"pl":{"name":"Izolowana agnezja pęcherzyka żółciowego"},"cs":{"name":"Izolovaná ageneze žlučníku"},"uk":{"name":"Ізольована агенезія жовчного міхура","definition":"A rare biliary tract disease characterized by congenital absence of the gallbladder and cystic duct. The majority of patients are asymptomatic. Possible clinical manifestations include abdominal pain and tenderness in the right upper quadrant, nausea, vomiting, fatty food intolerance, and jaundice. Frequency of choledocholithiasis is increased significantly."},"zh":{"name":"孤立性胆囊发育不良","definition":"一种罕见的胆道疾病，其特征为先天性胆囊和胆囊管缺失。大多数患者无症状。可能的临床表现包括右上腹的腹痛和压痛，恶心，呕吐，脂肪性食物不耐症和黄疸。胆总管结石的发生概率显着增加。"},"tr":{"name":"Safra kesesinin izole agenezi"}},"xrefs":[{"source":"ICD-10","code":"Q44.0","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LB20.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"647604601"},{"source":"MONDO","code":"0007642","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562564","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0266251","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10079018","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":101941,"name":"Rare biliary tract disease","classifications":[183]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":25.0,"area":"Worldwide","status":"Validated","source":"23337680[PMID]_ORPHANET"}],"phenotypes":null}