{"orpha":84081,"name":"Senior-Boichis syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Boichis disease","Nephronophthisis-hepatic fibrosis syndrome"],"definition":"A rare ciliopathy characterized by the association of nephronophthisis and liver fibrosis. Renal manifestations include chronic renal failure, polyuria, polydipsia, anemia, as well as increased echogenicity on renal ultrasound and interstitial fibrosis and tubular dilation on biopsy. Hepatic involvement manifests as hepatosplenomegaly with extensive fibrosis, destruction of the bile ducts, and cholestasis. Mild psychomotor retardation and ocular symptoms, such as strabismus, nystagmus, retinal degeneration, and anisocoria, have been reported in some patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-84081/","orphanet_url":"https://www.orpha.net/en/disease/detail/84081","names":{"fr":{"name":"Syndrome de Senior-Boichis","synonyms":["Maladie de Boichis","Syndrome de néphronophtise-fibrose hépatique"],"definition":"Ciliopathie rare caractérisée par l'association d'une néphronophtise et d'une fibrose hépatique. Parmi les manifestations rénales figurent une insuffisance rénale chronique, une polyurie, une polydipsie, une anémie, ainsi qu'une augmentation de l'échogénicité à l'échographie rénale, une fibrose interstitielle et une dilatation tubulaire visibles à la biopsie. L'atteinte hépatique se manifeste par une hépatosplénomégalie avec une fibrose étendue, une destruction des canaux biliaires et une cholestase. Un léger retard psychomoteur et des atteintes oculaires, tels que strabisme, nystagmus, dégénérescence rétinienne et anisocorie, ont été rapportés chez certains patients."},"de":{"name":"Senior-Boichis-Syndrom","synonyms":["Boichis-Krankheit","Nephronophthise-hepatische Fibrose-Syndrom"],"definition":"Eine seltene Störung aus der Gruppe der Ziliopathien, die durch die Verbindung von Nephronophthise und Leberfibrose gekennzeichnet ist. Zu den Nierenmanifestationen gehören chronisches Nierenversagen, Polyurie, Polydipsie, Anämie sowie erhöhte Echogenität im Nierenultraschall und interstitielle Fibrose und tubuläre Dilatation in der Biopsie. Die Leberbeteiligung äußert sich als Hepatosplenomegalie mit ausgedehnter Fibrose, Zerstörung der Gallengänge und Cholestase. Bei einigen Patienten wurden eine leichte psychomotorische Beeinträchtigung und Augensymptome wie Strabismus, Nystagmus, Netzhautdegeneration und Anisokorie beobachtet."},"es":{"name":"Síndrome de Senior-Boichis","synonyms":["Enfermedad de Boichis","Síndrome de nefronoptisis-fibrosis hepática"],"definition":"Es una ciliopatía poco frecuente caracterizada por la asociación de nefronoptisis y fibrosis hepática. Las manifestaciones renales incluyen insuficiencia renal crónica, poliuria, polidipsia y anemia, así como ecogenicidad aumentada en la ecografía renal y presencia de fibrosis intersticial y dilatación tubular en la biopsia. La afectación hepática se manifiesta con hepatoesplenomegalia con extensa fibrosis, destrucción de los conductos biliares y colestasis. En algunos pacientes se ha descrito leve retraso psicomotor y síntomas oculares, como estrabismo, nistagmo, degeneración retiniana y anisocoria."},"it":{"name":"Sindrome di Senior-Boichis","synonyms":["Sindrome di Boichis","Sindrome nefronoftisi-fibrosi epatica"],"definition":"Si tratta di una ciliopatia rara, caratterizzata da nefronoftisi e fibrosi epatica. I sintomi renali comprendono l'insufficienza renale cronica, la poliuria, la polidipsia, l'anemia, l'aumento dell'ecogenicità all'ecografia renale, la fibrosi interstiziale e la dilatazione tubulare (evidenti sulla biopsia). Il coinvolgimento epatico si manifesta sotto forma di epatosplenomegalia associata a fibrosi estesa, distruzione dei dotti biliari e colestasi. Alcuni pazienti presentano un lieve ritardo psicomotorio e sintomi oculari (strabismo, nistagmo, degenerazione della retina e anisocoria)."},"nl":{"name":"Syndroom van Senior-Boichis","synonyms":["Nefronoftise - hepatische fibrose-syndroom","Ziekte van Boichis"],"definition":"Een zeldzame ciliopathie, gekarakteriseerd door de associatie van nefronoftise en leverfibrose. Manifestaties van nier zijn onder meer chronisch nierfalen, polyurie, polydipsie, anemie, alsook verhoogde echogeniciteit bij echografie van de nieren, en interstitiële fibrose en dilatatie van niertubuli bij biopsie. Betrokkenheid van lever manifesteert zich als hepatosplenomegalie met uitgebreide fibrose, destructie van galwegen, en cholestase. Milde psychomotorische achterstand en oculaire symptomen, zoals strabisme, nystagmus, retinadegeneratie, en anisocorie, werden bij sommige patiënten gerapporteerd."},"pt":{"name":"Síndrome Senior-Boichis","synonyms":["Síndrome de nefronoptise-fibrose hepática"]},"pl":{"name":"Zespół Seniora i Boichisa","synonyms":["Choroba Boichisa","Zespół nefronoftyzy i włóknienia wątroby"]},"cs":{"name":"Seniorův-Boichisův syndrom","synonyms":["Boichisova nemoc","Syndrom zahrnující nefronoftízu a jaterní fibrózu","Senior-Boichisův syndrom"]},"uk":{"name":"Синдром Сеньйора-Буахіса","synonyms":["Хвороба Бойча","Синдром нефронофіброзу-фіброзу печінки"],"definition":"A rare ciliopathy characterized by the association of nephronophthisis and liver fibrosis. Renal manifestations include chronic renal failure, polyuria, polydipsia, anemia, as well as increased echogenicity on renal ultrasound and interstitial fibrosis and tubular dilation on biopsy. Hepatic involvement manifests as hepatosplenomegaly with extensive fibrosis, destruction of the bile ducts, and cholestasis. Mild psychomotor retardation and ocular symptoms, such as strabismus, nystagmus, retinal degeneration, and anisocoria, have been reported in some patients."},"zh":{"name":"Senior-Boichis综合征","synonyms":["肾消耗病-肝纤维化综合征"]},"tr":{"name":"Senior-Boichis sendromu","synonyms":["Boichis hastalığı","Nefronofthisis-hepatik fibrozis sendromu"]}},"xrefs":[{"source":"OMIM","code":"613550","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616217","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q61.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB8Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2119365276"},{"source":"MONDO","code":"0019394","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274018","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":93587,"name":"Genetic cystic renal disease","classifications":[156,188]},{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":156162,"name":"Renal ciliopathy","classifications":[156]}],"children":[],"genes":[{"symbol":"DCDC2","name":"doublecortin domain containing 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25557784[PMID]","hgnc":"18141","ensembl":"ENSG00000146038","omim":"605755","loci":["6p22.3"]},{"symbol":"TMEM67","name":"transmembrane protein 67","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19508969[PMID]","hgnc":"28396","ensembl":"ENSG00000164953","omim":"609884","loci":["8q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-10-06","source":"29479522[PMID]_34461951[PMID]_31821705[PMID]_34212438[PMID]","terms":[{"hpo":"HP:0032581","label":"Abnormal renal insterstitial morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012591","label":"Abnormal urinary electrolyte concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001396","label":"Cholestasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012622","label":"Chronic kidney disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003155","label":"Elevated circulating alkaline phosphatase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001395","label":"Hepatic fibrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004719","label":"Hyperechogenic kidneys","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003573","label":"Increased total bilirubin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006563","label":"Malformation of the hepatic ductal plate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001959","label":"Polydipsia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001409","label":"Portal hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006571","label":"Reduced number of intrahepatic bile ducts","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005565","label":"Reduced renal corticomedullary differentiation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000108","label":"Renal corticomedullary cysts","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000089","label":"Renal hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0020132","label":"Thickening of the tubular basement membrane","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032622","label":"Tubular luminal dilatation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000713","label":"Agitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001541","label":"Ascites","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012163","label":"Carotid artery dilatation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001394","label":"Cirrhosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002612","label":"Congenital hepatic fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002506","label":"Diffuse cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002040","label":"Esophageal varix","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012585","label":"Renal atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003774","label":"Stage 5 chronic kidney disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031589","label":"Suicidal ideation","frequency":"Occasional (29-5%)","criteria":null}]}}