{"orpha":2065,"name":"Galloway-Mowat syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Galloway syndrome","Microcephaly-hiatus hernia-nephrotic syndrome","Nephrosis-neuronal dysmigration syndrome"],"definition":"A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2065/","orphanet_url":"https://www.orpha.net/en/disease/detail/2065","names":{"fr":{"name":"Syndrome de Galloway-Mowat","synonyms":["Syndrome de Galloway","Syndrome de microcéphalie-syndrome néphrotique-sclérose mésangiale","Syndrome de néphrose-migration neuronale anormale"],"definition":"Maladie rare multisystèmique d'origine génétique caractérisée par une atteinte neurodégénérative associant un retard de développement général, une microcéphalie progressive et une atrophie cérébrale et cérébelleuse progressive avec une atteinte extrapyramidale, une atrophie optique progressive et, chez de nombreux patients, une apparition précoce du syndrome néphrotique résistant aux stéroïdes."},"de":{"name":"Galloway-Mowat-Syndrom","synonyms":["Galloway-Syndrom","Mikrozephalie - Hiatushernie - Nephrotisches Syndrom","Nephrose mit abnormer neuronaler Migration"],"definition":"Eine genetisch bedingte Multisystemerkrankung, die durch eine neurodegenerative Störung gekennzeichnet ist, die mit einer globalen Entwicklungsverzögerung, fortschreitender Mikrozephalie und fortschreitender zerebraler und zerebellärer Atrophie mit extrapyramidaler Beteiligung, fortschreitender Optikusatrophie und bei vielen Patienten mit einem früh einsetzenden steroidresistenten nephrotischen Syndrom einhergeht."},"es":{"name":"Síndrome de Galloway","synonyms":["Síndrome con microcefalia-hernia de hiato-nefrosis","Síndrome de Galloway-Mowat","Síndrome de nefrosis-migración neuronal anómala"],"definition":"Es un trastorno multisistémico de origen genético, poco frecuente, caracterizado por un trastorno neurodegenerativo que asocia retraso global del desarrollo, microcefalia progresiva y atrofia cerebral y cerebelosa progresivas con afectación extrapiramidal, atrofia óptica progresiva y, en muchos pacientes, síndrome nefrótico resistente a esteroides de inicio temprano."},"it":{"name":"Sindrome di Galloway-Mowat","synonyms":["Microcefalia - ernia iatale - sindrome nefrosica","Sindrome di Galloway-Mowat","Sindrome nefrosi-anomalie della migrazione neuronale"],"definition":"La sindrome di Galloway-Mowat è una malattia multisistemica genetica rara, caratterizzata da un quadro neurodegenerativo (ritardo dello sviluppo globale, microcefalia progressiva, atrofia cerebrale e cerebellare progressive) associato a un interessamento extrapiramidale, all'atrofia ottica progressiva e, in molti pazienti, alla sindrome nefrosica ad esordio precoce resistente agli steroidi."},"nl":{"name":"Syndroom van Galloway-Mowat","synonyms":["Microcefalie - hiatus hernia - nefrotisch syndroom","Nefrose - neuronale dysmigratie-syndroom","Syndroom van Galloway"],"definition":"Een zeldzame, genetische multisysteemaandoening, gekarakteriseerd door een neurodegeneratieve aandoening die algehele ontwikkelingsachterstand, progressieve microcefalie, en progressieve cerebrale en cerebellaire atrofie associeert met extrapiramidale betrokkenheid, progressieve opticusatrofie, en bij vele patiënten steroïdresistent nefrotisch syndroom met vroege aanvang."},"pt":{"name":"Síndrome Galloway-Mowat","synonyms":["Síndrome de microcefalia-hérnia do hiato-síndrome nefrótico","Síndrome nefrose-alterações da migração neuronal"]},"pl":{"name":"Zespół Gallowaya i Mowata","synonyms":["Małogłowie - przepuklina rozworu przełykowego - zespół nefrotyczny","Zespół Gallowaya i Mowata","Zespół nerczycowy - zaburzenia migracji neuronalnej"]},"cs":{"name":"Gallowayův-Mowatův syndrom","synonyms":["Syndrom zahrnující mikrocefalii, hiátovou hernii a nefrotický syndrom","Syndrom zahrnující nefrózu a neuronální dysmigraci","Galowayův syndrom","Galloway-Mowatův syndrom"]},"uk":{"name":"Синдром Галлоуея-Мовата","synonyms":["Синдром Галлоуея","Мікроцефалія-грижа стравохідного отвору діафрагми-нефротичний синдром","Синдром нефрозу - нейрональної дисміграції"],"definition":"A rare, genetic multisystem disorder characterized by a neurodegenerative disorder associating global developmental delay, progressive microcephaly, and progressive cerebral and cerebellar atrophy with extrapyramidal involvement, progressive optic atrophy, and in many patients early-onset steroid-resistant nephrotic syndrome."},"zh":{"name":"Galloway-Mowat综合征","synonyms":["小脑畸形-食管裂孔疝-肾病综合征"]},"tr":{"name":"Galloway-Mowat sendromu","synonyms":["Galloway sendromu","Nefroz-nöronal dismigrasyon sendromu","Mikrosefali-hiatus herni-nefrotik sendrom"]}},"xrefs":[{"source":"OMIM","code":"251300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"301006","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617729","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617730","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617731","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618347","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618348","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618349","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619603","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619609","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"GB41","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1140537618"},{"source":"MONDO","code":"0009627","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537548","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0795949","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"65","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10088355","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":567562,"name":"Disorder with multisystemic involvement and glomerulopathy","classifications":[156,188,233]},{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[{"symbol":"NUP133","name":"nucleoporin 133","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"30427554[PMID]","hgnc":"18016","ensembl":"ENSG00000069248","omim":"607613","loci":["1q42.13"]},{"symbol":"WDR73","name":"WD repeat domain 73","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25466283[PMID]","hgnc":"25928","ensembl":"ENSG00000177082","omim":"616144","loci":["15q25.2"]},{"symbol":"GON7","name":"GON7 subunit of KEOPS complex","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31481669[PMID]","hgnc":"20356","ensembl":"ENSG00000170270","omim":"617436","loci":["14q32.12"]},{"symbol":"LAGE3","name":"L antigen family member 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28805828[PMID]","hgnc":"26058","ensembl":"ENSG00000196976","omim":"300060","loci":["Xq28"]},{"symbol":"NUP107","name":"nucleoporin 107","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28280135[PMID]","hgnc":"29914","ensembl":"ENSG00000111581","omim":"607617","loci":["12q15"]},{"symbol":"OSGEP","name":"O-sialoglycoprotein endopeptidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28805828[PMID]","hgnc":"18028","ensembl":"ENSG00000092094","omim":"610107","loci":["14q11.2"]},{"symbol":"TP53RK","name":"TP53 regulating kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28805828[PMID]","hgnc":"16197","ensembl":"ENSG00000172315","omim":"608679","loci":["20q13.12"]},{"symbol":"TPRKB","name":"TP53RK binding protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"28805828[PMID]","hgnc":"24259","ensembl":"ENSG00000144034","omim":"608680","loci":["2p13.1"]},{"symbol":"WDR4","name":"WDR4 tRNA N7-guanosine methyltransferase non-catalytic subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30079490[PMID]","hgnc":"12756","ensembl":"ENSG00000160193","omim":"605924","loci":["21q22.3"]},{"symbol":"YRDC","name":"yrdC N6-threonylcarbamoyltransferase domain containing","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31481669[PMID]","hgnc":"28905","ensembl":"ENSG00000196449","omim":"612276","loci":["1p34.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive","X-linked recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":159.0,"area":"Worldwide","status":"Validated","source":"33791874[PMID]_ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.1,"area":"Worldwide","status":"Validated","source":"34619372[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100720","label":"Hypoplasia of the ear cartilage","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000112","label":"Nephropathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000100","label":"Nephrotic syndrome","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000093","label":"Proteinuria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002269","label":"Abnormality of neuronal migration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002036","label":"Hiatus hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000400","label":"Macrotia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005108","label":"Abnormal intervertebral disk morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010978","label":"Abnormality of immune system physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001181","label":"Adducted thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002410","label":"Aqueductal stenosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100490","label":"Camptodactyly of finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Occasional (29-5%)","criteria":null}]}}