{"orpha":564,"name":"Meckel syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Dysencephalia splanchnocystica","Meckel-Gruber syndrome"],"definition":"A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-564/","orphanet_url":"https://www.orpha.net/en/disease/detail/564","names":{"fr":{"name":"Syndrome de Meckel","synonyms":["Dysencephalie splanchnocystique","Syndrome de Gruber","Syndrome de Meckel-Gruber"],"definition":"Anomalie congénitale multiple rare, létale et génétique, caractérisée par la triade suivante : malformation cérébrale (principalement encéphalocèle occipitale), gros reins polykystiques et polydactylie, ainsi que des anomalies associées pouvant inclure une fente labiale/palatine, des anomalies cardiaques et génitales, des malformations du système nerveux central (SNC), une fibrose hépatique et une dysplasie osseuse."},"de":{"name":"Meckel-Syndrom","synonyms":["Dysencephalia splanchnocystica","Meckel-Gruber-Syndrom"],"definition":"Eine letale genetische Störung mit multiplen angeborenen Anomalien, die durch eine Trias von Fehlbildungen des Gehirns (hauptsächlich okzipitale Enzephalozele), große polyzystische Nieren und Polydaktylie sowie assoziierte Anomalien wie Lippen-Kiefer-Gaumenspalten, Herz- und Genitalfehlbildungen, Fehlbildungen des zentralen Nervensystems (ZNS), Leberfibrose und Knochendysplasie gekennzeichnet ist."},"es":{"name":"Síndrome de Meckel","synonyms":["Disencefalia esplancnoquística","Síndrome de Meckel-Gruber"],"definition":".Es un trastorno letal de múltiples anomalías congénitas, de base genética y poco frecuente, caracterizado por la tríada de malformación cerebral (principalmente encefalocele occipital), riñones poliquísticos aumentados de tamaño y polidactilia, así como otras anomalías asociadas que pueden incluir labio leporino/paladar hendido, anomalías cardíacas y genitales, malformaciones del sistema nervioso central (SNC), fibrosis hepática y displasia ósea."},"it":{"name":"Sindrome di Meckel","synonyms":["Disencefalia splancnocistica","Sindrome di Meckel-Gruber"],"definition":"La sindrome di Meckel (MKS) è una malattia rara e letale da anomalie congenite multiple, di origine genetica, caratterizzata dalla triade malformazione cerebrale (in particolare encefalocele occipitale), reni policistici iperplastici e polidattilia. I pazienti possono presentare anche altre anomalie, come la labio/palatoschisi, le cardiopatie, le anomalie dei genitali, le malformazioni del sistema nervoso centrale (SNC), la fibrosi epatica e la displasia ossea."},"nl":{"name":"Syndroom van Meckel","synonyms":["Dysencephalia splanchnocystica","Syndroom van Meckel-Gruber"],"definition":"Een zeldzame, letale, genetische aandoening met multipele congenitale anomalieën, gekarakteriseerd door de triade van hersenmalformatie (voornamelijk occipitale encefalocele), grote polycystische nieren, en polydactylie, alsook geassocieerde afwijkingen waaronder mogelijk gespleten lip/gehemelte, cardiale en genitale anomalieën, malformaties van centraal zenuwstelsel (CZS), leverfibrose, en botdysplasie."},"pt":{"name":"Síndrome Meckel","synonyms":["Disencefalia esplancnoquística","Síndrome Meckel-Gruber"]},"pl":{"name":"Zespół Meckela","synonyms":["Zespół Meckela i Grubera"],"definition":"Rzadka, genetycznie uwarunkowana choroba z wielowadziem o letalnym przebiegu, która charakteryzuje się triadą wad rozwojowych mózgu (głównie przepukliny mózgowej potylicznej), dużymi wielotorbielowatymi nerkami i polidaktylią, z innymi nieprawidłowościami, takimi jak rozszczep wargi/podniebienia, wady serca i narządów płciowych, wady ośrodkowego układu nerwowego, zwłóknienie wątroby i dysplazja kości."},"cs":{"name":"Meckelův syndrom","synonyms":["Meckelův-Gruberův syndrom","Meckel-Gruberův syndrom"]},"uk":{"name":"Синдром Меккеля","synonyms":["Дисенцефалія спланхноцистична","Синдром Меккеля-Грубера"],"definition":"A rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia."},"zh":{"name":"Meckel综合征","synonyms":["Meckel-Gruber综合征"]},"tr":{"name":"Meckel sendromu","synonyms":["Meckel-Gruber sendromu"]}},"xrefs":[{"source":"OMIM","code":"249000","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"267010","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"603194","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607361","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609345","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611134","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"611561","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"612284","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613885","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614175","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614209","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615397","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616258","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617562","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619879","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q61.9","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"LD2F.13","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"695796893"},{"source":"MONDO","code":"0018921","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265215","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3436","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":1396,"name":"OBSOLETE: Cerebrorenodigital syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":93587,"name":"Genetic cystic renal disease","classifications":[156,188]},{"orpha":471383,"name":"Genetic lethal multiple congenital anomalies/dysmorphic syndrome","classifications":[156]},{"orpha":269564,"name":"Genetic syndrome with a central nervous system malformation as a major feature","classifications":[156]},{"orpha":98655,"name":"Lens shape anomaly","classifications":[147,156,189]},{"orpha":459787,"name":"Lethal multiple congenital anomalies/dysmorphic syndrome","classifications":[147]},{"orpha":139039,"name":"Orofacial clefting syndrome","classifications":[147,156,200,209]},{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]},{"orpha":156162,"name":"Renal ciliopathy","classifications":[156]},{"orpha":156165,"name":"Retinal ciliopathy","classifications":[156]},{"orpha":294959,"name":"Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy","classifications":[147,156,199]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]},{"orpha":93547,"name":"Syndromic renal or urinary tract malformation","classifications":[147,156,188,233]},{"orpha":108973,"name":"Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen","classifications":[147,156,182]}],"children":[],"genes":[{"symbol":"RPGRIP1","name":"RPGR interacting protein 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":null,"hgnc":"13436","ensembl":"ENSG00000092200","omim":"605446","loci":["14q11.2"]},{"symbol":"TCTN1","name":"tectonic family member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28631893[PMID]","hgnc":"26113","ensembl":"ENSG00000204852","omim":"609863","loci":["12q24.11"]},{"symbol":"TCTN3","name":"tectonic family member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22883145[PMID]","hgnc":"24519","ensembl":"ENSG00000119977","omim":"613847","loci":["10q24.1"]},{"symbol":"TMEM107","name":"transmembrane protein 107","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26123494[PMID]","hgnc":"28128","ensembl":"ENSG00000179029","omim":"616183","loci":["17p13.1"]},{"symbol":"TMEM231","name":"transmembrane protein 231","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23349226[PMID]","hgnc":"37234","ensembl":"ENSG00000205084","omim":"614949","loci":["16q23.1"]},{"symbol":"TMEM237","name":"transmembrane protein 237","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26729329[PMID]","hgnc":"14432","ensembl":"ENSG00000155755","omim":"614423","loci":["2q33.1"]},{"symbol":"TXNDC15","name":"thioredoxin domain containing 15","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"27894351[PMID]","hgnc":"20652","ensembl":"ENSG00000113621","omim":"617778","loci":["5q31.1"]},{"symbol":"B9D1","name":"B9 domain containing 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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in","status":"Assessed","source":"21110233[PMID]_19466712[PMID]_17389183[PMID]","hgnc":"28396","ensembl":"ENSG00000164953","omim":"609884","loci":["8q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Antenatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.3,"area":"France","status":"Validated","source":"22925539[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"France","status":"Validated","source":"22925539[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.0,"area":"Finland","status":"Validated","source":"6486168[PMID]_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.6,"area":"Europe","status":"Validated","source":"EUROCAT European surveillance of congenital anomalies 1990-2011[OTHER]_25182137[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002612","label":"Congenital hepatic fibrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002084","label":"Encephalocele","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000003","label":"Multicystic kidney dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001830","label":"Postaxial foot polydactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001162","label":"Postaxial hand 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(29-5%)","criteria":null},{"hpo":"HP:0000221","label":"Furrowed tongue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000037","label":"Male pseudohermaphroditism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001737","label":"Pancreatic cysts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100732","label":"Pancreatic fibrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001177","label":"Preaxial hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001696","label":"Situs inversus totalis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010459","label":"True hermaphroditism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000073","label":"Ureteral duplication","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000068","label":"Urethral atresia","frequency":"Occasional (29-5%)","criteria":null}]}}