{"orpha":2970,"name":"Prune belly syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Abdominal muscle deficiency syndrome","Eagle-Barret syndrome","Obrinsky syndrome","Triad syndrome"],"definition":"A rare lower urinary tract obstruction (LUTO) characterized by varying degrees of an enlarged urinary bladder, dilated ureters, hydronephrosis, and poorly contractile and disorganized detrusor and ureteral smooth muscle, in association with hypoplastic or absent midline abdominal skeletal musculature, and bilaterally undescended testes in males.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2970/","orphanet_url":"https://www.orpha.net/en/disease/detail/2970","names":{"fr":{"name":"Syndrome prune belly","synonyms":["Syndrome d'Eagle-Barret","Syndrome d'Obrinsky","Syndrome triad"],"definition":"Obstruction inférieure de voies urinaires (LUTO) rare, caractérisée par des degrés variables d'hypertrophie de la vessie, de dilatation des uretères, d'hydronéphrose et une contraction faible et désorganisée du muscle lisse du détrusor et de l'uretère, en association avec une aplasie ou une hypoplasie des muscles de la paroi antérieure de l'abdomen, et, chez les individus de sexe masculin, des testicules non descendus."},"de":{"name":"Prune-Belly-Syndrom","synonyms":["Eagle-Barret-Syndrom","Kongenitales Fehlen der Bauchmuskulatur","Obrinsky-Fröhlich-Syndrom","Obrinsky-Syndrom","Pflaumenbauchsyndrom","Triad-Syndrom"],"definition":"Das Prune-Belly-Syndrom ist eine seltene angeborene Störung, die zur Gruppe der fetalen unteren Harnwegsobstruktionen (LUTO) gehört und eine variable Dilatation der unteren Harnwege in Verbindung mit einem teilweisen oder vollständigen Fehlen der lateralen und inferioren Bauchwandmuskulatur und bei Männern bilateralen nicht palpablen Hodenhochstand beinhaltet."},"es":{"name":"Síndrome del abdomen en ciruela pasa","synonyms":["Síndrome de Eagle-Barret","Síndrome de Obrinsky","Síndrome de deficiencia muscular abdominal","Síndrome de la triada"],"definition":"Es un síndrome de obstrucción del tracto urinario inferior (LUTO, por sus siglas en inglés) poco frecuente caracterizado por grados variables de agrandamiento de la vejiga urinaria, dilatación de los uréteres, hidronefrosis, detrusor y musculatura lisa ureteral poco contráctil y desorganizada, asociada a hipoplasia o ausencia de la musculatura esquelética abdominal en la línea media y, en varones, testículos no descendidos bilateralmente."},"it":{"name":"Sindrome ''prune belly''","synonyms":["Sindrome da deficit dei muscoli addominali","Sindrome della triade","Sindrome di Eagle-Barret","Sindrome di Obrinsky"],"definition":"La sindrome ''prune belly'' (PBS) è una rara ostruzione fetale delle vie urinarie basse (LUTO), caratterizzata dall'ingrossamento variabile della vescica, dalla dilatazione degli ureteri, da idronefrosi, dalla muscolatura liscia detrusoriale e ureterale scarsamente contrattile e disorganizzata, dall'ipoplasia o agenesia della muscolatura scheletrica addominale della linea mediana e, nei maschi, dalla ritenzione testicolare bilaterale."},"nl":{"name":"Prune belly-syndroom","synonyms":["Abdominale spierdeficiëntie-syndroom","Pruimenbuiksyndroom","Syndroom van Eagle-Barret","Syndroom van Obrinsky","Triadesyndroom"],"definition":"Een zeldzame obstructie van lagere urinewegen (LUTO), gekarakteriseerd door variabele gradaties van vergroting van de urineblaas, dilatatie van ureters, hydronefrose, en ondermaatse contractiliteit en desorganisatie van blaasspier (detrusor) en gladde spier van ureters, geassocieerd met afwezige of hypoplastische mediane abdominale skeletspieren, en bij mannen bilateraal niet-ingedaalde teelballen."},"pt":{"name":"Síndrome \"prune belly\"","synonyms":["Síndrome Eagle-Barret","Síndrome Obrinsky","Síndrome de deficiência dos músculos abdominais","Síndrome tríade"]},"pl":{"name":"Zespół suszonej śliwki","synonyms":["Obrinsky syndrome","Zespół Eagle'a i Barreta","Zespół niedorozwoju mięśni brzucha","Zespół triady"]},"cs":{"name":"Syndrom svraštělého břicha","synonyms":["Obrinského syndrom","Prune belly syndrom","Syndrom deficitu břišních svalů","Eagleův-Barrettův syndrom","Eagle-Barrettův syndrom"]},"uk":{"name":"Синдром сливового живота","synonyms":["Синдром абдомінальної мязової недостатності","Синдром Ігл-Барре","Синдром Обринського","Синдром тріади"],"definition":"A rare lower urinary tract obstruction (LUTO) characterized by varying degrees of an enlarged urinary bladder, dilated ureters, hydronephrosis, and poorly contractile and disorganized detrusor and ureteral smooth muscle, in association with hypoplastic or absent midline abdominal skeletal musculature, and bilaterally undescended testes in males."},"zh":{"name":"梨状腹综合征","synonyms":["腹部肌肉缺乏综合征"]},"tr":{"name":"Prune-Belly sendromu","synonyms":["Triad sendromu","Obrinsky sendromu","Eagle-Barret sendromu","Karın kas eksikliği sendromu"]}},"xrefs":[{"source":"OMIM","code":"100100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q79.4","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.10","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1393408621"},{"source":"MONDO","code":"0007032","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D011535","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0033770","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7479","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10051025","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":93178,"name":"OBSOLETE: Partial prune belly syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":435365,"name":"Fetal lower urinary tract obstruction","classifications":[147,156,185,188,233]}],"children":[],"genes":[{"symbol":"CHRM3","name":"cholinergic receptor muscarinic 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22077972[PMID]","hgnc":"1952","ensembl":"ENSG00000133019","omim":"118494","loci":["1q43"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable","X-linked recessive"],"onset":["Antenatal","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.4,"area":"Italy","status":"Validated","source":"22506933[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.38,"area":"United Kingdom","status":"Not yet validated","source":"8876090[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.42,"area":"Canada","status":"Validated","source":"6454342[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.8,"area":"United States","status":"Validated","source":"20381841[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000014","label":"Abnormality of the bladder","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000069","label":"Abnormality of the ureter","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005199","label":"Aplasia of the abdominal wall musculature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006703","label":"Aplasia/Hypoplasia of the lungs","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010957","label":"Congenital posterior urethral valve","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000144","label":"Decreased fertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000072","label":"Hydroureter","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000010","label":"Recurrent urinary tract infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000083","label":"Renal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000130","label":"Abnormality of the uterus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002023","label":"Anal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001374","label":"Congenital hip dislocation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011100","label":"Intestinal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001643","label":"Patent ductus arteriosus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100779","label":"Urogenital sinus anomaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003422","label":"Vertebral segmentation defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002580","label":"Volvulus","frequency":"Occasional (29-5%)","criteria":null}]}}