{"orpha":3032,"name":"NPHP3-related Meckel-like syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Goldston syndrome","Meckel syndrome type 7","Meckel-like syndrome type 1","Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome"],"definition":"NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3032/","orphanet_url":"https://www.orpha.net/en/disease/detail/3032","names":{"fr":{"name":"Syndrome Meckel-like associé à NPHP3","synonyms":["Syndrome Meckel-like type 1","Syndrome de Goldston","Syndrome de Meckel type 7","Syndrome de dysplasie réno-hépato-pancréatique-kystes de Dandy-Walker"],"definition":"Anomalie syndromique rare du développement du rein d'origine génétique, caractérisée par une dysplasie rénale kystique avec ou sans oligohydramnios prénatal, ainsi que par des anomalies du système nerveux central (fréquemment une malformation de Dandy-Walker), une fibrose hépatique congénitale, en l'absence de polydactylie."},"de":{"name":"Meckel-ähnliches Syndrom, NPHP3-assoziiertes","synonyms":["Goldston-Syndrom","Meckel-Syndrom Typ 7","Meckel-ähnliches-Syndrom Typ 1","Nieren-Leber-Pankreas-Dysplasie mit Dandy-Walker Zysten"]},"es":{"name":"Síndrome similar a Meckel asociado a NPHP3","synonyms":["Displasia renal-hepática-pancreática-quistes de Dandy-Walker","Síndrome de Goldston","Síndrome de Meckel tipo 7","Síndrome de Meckel-like asociado a NPHP3","Síndrome similar a Meckel, tipo 1"],"definition":"Es una entidad poco frecuente de causa genética que se caracteriza por la asociación sindrómica de un cuadro de displasia quística renal con o sin oligohidramnios prenatal, anomalías del sistema nervioso central (más frecuentemente, malformación de Dandy-Walker), fibrosis hepática congénita y ausencia de polidactilia."},"it":{"name":"Sindrome Meckel-simile legata a NPHP3","synonyms":["Displasia renale-epatico-pancreatica - cisti di Dandy-Walker","Sindrome Meckel-simile, tipo 1","Sindrome di Goldston","Sindrome di Meckel, tipo 7"],"definition":"La sindrome Meckel-simile correlata a NPHP3 è una malformazione genetica rara dei reni, caratterizzata da displasia renale cistica, con o senza oligoidramnios, anomalie del sistema nervoso centrale (di solito la malformazione di Dandy-Walker) e fibrosi epatica congenita. Non è presente polidattilia."},"nl":{"name":"NPHP3-gerelateerd Meckel-achtig syndroom","synonyms":["Meckel-achtig syndroom type 1","Renale-hepatische-pancreatische dysplasie - Dandy-Walker cysten-syndroom","Syndroom van Goldston","Syndroom van Meckel type 7"],"definition":"NPHP3-gerelateerd Meckel-achtig syndroom is een zeldzame, genetische, syndromale niermalformatie die gekarakteriseerd wordt door cystische renale dysplasie met of zonder prenatale oligohydramnion, afwijkingen van het centrale zenuwstelsel (doorgaans malformatie van Dandy-Walker), congenitale leverfibrose, en afwezigheid van polydactylie."},"pt":{"name":"Síndrome Meckel-like NPHP3-relacionado","synonyms":["Síndrome Meckel-like tipo 1","Síndrome de displasia nefro-hepato-pancreática-quistos Dandy-Walker","Síndrome Goldston","Síndrome Meckel tipo 7"]},"pl":{"name":"Zespół podobny do zespołu Meckela zwiazany z NPHP3","synonyms":["Dysplazja nerkowo-wątrobowo-trzustkowa - torbiele Dandy'ego i Walkera","Zespół Goldstona","Zespół Meckela typu 7","Zespół podobny do zespołu Meckela typu 1"],"definition":"*Zespół podobny do zespołu Meckela związany z NPHP3 jest rzadkim, genetycznie uwarunkowanym zespołem, który charakteryzuje się wadą nerek pod postacią ich torbielowatej dysplazji, z małowodziem lub bez w okresie prenatalnym, nieprawidłowościami ośrodkowego układu nerwowego (zwykle malformacja Dandy’ego i Walkera), wrodzonym zwłóknieniem wątroby, bez polidaktylii."},"cs":{"name":"NPHP3-vázaný syndrom podobný Meckelovu","synonyms":["Syndrom podobný Meckelovu syndromu, typ 1","Syndrom zahrnující renální-jaterní-pankreatickou dysplázii a Dandyho-Walkerovy cysty","Goldstonův syndrom","Meckelův syndrom, typ 7","Syndrom zahrnující renální-jaterní-pankreatickou dysplázii a Dandy-Walkerovy cysty"]},"uk":{"name":"NPHP3-асоційований Меккель-подібний синдром","synonyms":["Синдром Голдстона","Синдром Меккеля, тип 7","Меккелоподібний синдром, тип 1","Синдром нирково-печінково-підшлункова дисплазія - кіст Денді-Уокера"],"definition":"NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly."},"zh":{"name":"NPHP3相关性梅克尔样综合征","synonyms":["肾-肝-胰腺发育不良- Dandy-Walker囊肿综合征"]},"tr":{"name":"NPHP3 -ilişkili Meckel benzeri sendrom","synonyms":["Goldston sendromu","Meckel sendromu tip 7","Meckel-benzeri sendrom tip 1","Böbrek-hepatik-pankreas displazisi-Dandy-Walker kist sendromu"]}},"xrefs":[{"source":"OMIM","code":"267010","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q61.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.13","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009966","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2673885","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4665","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93626,"name":"Rare renal disease"},"parents":[{"orpha":156604,"name":"Genetic parenchymatous liver disease","classifications":[156]},{"orpha":269570,"name":"Genetic syndrome with a Dandy-Walker malformation as a major feature","classifications":[156]},{"orpha":101939,"name":"Rare parenchymal liver disease","classifications":[183]},{"orpha":156180,"name":"Retinal ciliopathy due to mutation in nephronophthisis gene","classifications":[156]},{"orpha":269546,"name":"Syndrome with a Dandy-Walker malformation as a major feature","classifications":[147,181]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]}],"children":[],"genes":[{"symbol":"NPHP3","name":"nephrocystin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18371931[PMID]","hgnc":"7907","ensembl":"ENSG00000113971","omim":"608002","loci":["3q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":10.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-11-14","source":null,"terms":[{"hpo":"HP:0001305","label":"Dandy-Walker malformation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000110","label":"Renal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012440","label":"Abnormal biliary tract morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030146","label":"Abnormal liver parenchyma morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001732","label":"Abnormality of the pancreas","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002566","label":"Intestinal malrotation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002089","label":"Pulmonary hypoplasia","frequency":"Frequent (79-30%)","criteria":null}]}}