{"orpha":899,"name":"Walker-Warburg syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["HARD syndrome","Hydrocephalus-agyria-retinal dysplasia syndrome","WWS"],"definition":"A rare form of congenital muscular dystrophy (CMD) associated with severe brain and eye abnormalities. It is the most severe form of CMD.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-899/","orphanet_url":"https://www.orpha.net/en/disease/detail/899","names":{"fr":{"name":"Syndrome de Walker-Warburg","synonyms":["Syndrome HARD","Syndrome d'hydrocéphalie-agyrie-dysplasie rétinienne","WWS"],"definition":"Forme rare de dystrophie musculaire congénitale (DMC) associée à de graves anomalies cérébrales et oculaires. Il s'agit de la forme la plus grave de DMC."},"de":{"name":"Walker-Warburg-Syndrom","synonyms":["HARD-Syndrom","Hydrozephalus-Agyrie-Retinadysplasie-Syndrom"],"definition":"Eine seltene Form der kongenitalen Muskeldystrophie (CMD), die mit schweren Gehirn- und Augenanomalien einhergeht. Sie ist die schwerste Form der CMD."},"es":{"name":"Síndrome de Walker-Warburg","synonyms":["Hidrocefalia-agiria-displasia retiniana","Síndrome HARD","Síndrome de hidrocefalia-agiria-displasia retiniana","WWS"],"definition":"Es una forma poco frecuente de distrofia muscular congénita (DMC) asociada a anomalías oculares y cerebrales graves. Es la forma más grave de DMC."},"it":{"name":"Sindrome di Walker-Warburg","synonyms":["Idrocefalo - agiria - displasia retinica","Sindrome HARD","Sindrome idrocefalo-agiria-displasia retinica","WWS"],"definition":"La sindrome di Walker-Warburg (WWS) è una rara forma di distrofia muscolare congenita associata a anomalie cerebrali ed oculari. La sindrome ha una diffusione mondiale."},"nl":{"name":"Syndroom van Walker-Warburg","synonyms":["HARD-syndroom","Hydrocefalus - agyrie - retinadysplasie-syndroom","Hydrocefalus - agyrie - retinale dysplasie-syndroom","WWS"],"definition":"Een zeldzame vorm van congenitale spierdystrofie (CMD), geassocieerd met ernstige afwijkingen van hersenen en oog. Het is de meest ernstige vorm van CMD."},"pt":{"name":"Síndrome Walker-Warburg","synonyms":["Síndrome HARD","Síndrome de hidrocefalia-agiria-displasia da retina","WWS"],"definition":"Uma forma rara de distrofia muscular congénita (DMC) associada a anomalias cerebrais e oculares graves. É a forma mais grave de DMC."},"pl":{"name":"Zespół Walkera i Warburga","synonyms":["Wodogłowie - agyria - dysplazja rogówki","WWS","Zespół HARD","Zespół wodogłowie-agyria-dysplazja rogówki"]},"cs":{"name":"Walkerův-Warburgův syndrom","synonyms":["HARD syndrom","Syndrom zahrnující hydrocefalus, agyrii a retinální dysplázii","WWS","Walker-Warburgův syndrom"]},"uk":{"name":"Синдром Уокера-Варбурга","synonyms":["Синдром HARD","Синдром гідроцефалії-агірії-дисплазії сітківки","WWS"],"definition":"A rare form of congenital muscular dystrophy (CMD) associated with severe brain and eye abnormalities. It is the most severe form of CMD."},"zh":{"name":"沃克-沃伯格综合征","synonyms":["脑积水-无脑回畸形-视网膜发育不良综合征"]},"tr":{"name":"Walker-Warburg sendromu","synonyms":["WWS","HARD sendromu","Hidrosefali-agyria-retina displazi sendromu"]}},"xrefs":[{"source":"OMIM","code":"236670","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"253280","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"253800","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613150","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613153","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"613154","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614643","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614830","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615041","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615181","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615249","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"615287","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616538","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8C70.6","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1344150217"},{"source":"MONDO","code":"0000171","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D058494","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0265221","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2599","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":371235,"name":"Congenital disorder of glycosylation with developmental anomaly","classifications":[147,156]},{"orpha":371071,"name":"Congenital disorder of glycosylation with epilepsy as a major feature","classifications":[156,181]},{"orpha":352687,"name":"Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies","classifications":[147,156,181]},{"orpha":309469,"name":"Disorder of O-mannosylglycan synthesis","classifications":[150,156]},{"orpha":207119,"name":"Qualitative or quantitative defects of FKRP","classifications":[156]},{"orpha":207122,"name":"Qualitative or quantitative defects of fukutin","classifications":[156]},{"orpha":209024,"name":"Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase","classifications":[156]},{"orpha":209030,"name":"Qualitative or quantitative defects of protein O-mannosyltransferase 1","classifications":[156]},{"orpha":209033,"name":"Qualitative or quantitative defects of protein O-mannosyltransferase 2","classifications":[156]},{"orpha":716446,"name":"Rare disorder with progressive vitreoretinopathy disorder as a major feature","classifications":[156,189]}],"children":[],"genes":[{"symbol":"COL4A1","name":"collagen type IV alpha 1 chain","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"21625620[PMID]","hgnc":"2202","ensembl":"ENSG00000187498","omim":"120130","loci":["13q34"]},{"symbol":"B3GALNT2","name":"beta-1,3-N-acetylgalactosaminyltransferase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23453667[PMID]","hgnc":"28596","ensembl":"ENSG00000162885","omim":"610194","loci":["1q42.3"]},{"symbol":"B4GAT1","name":"beta-1,4-glucuronyltransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23359570[PMID]","hgnc":"15685","ensembl":"ENSG00000174684","omim":"605517","loci":["11q13.2"]},{"symbol":"CRPPA","name":"CDP-L-ribitol pyrophosphorylase A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22522420[PMID]","hgnc":"37276","ensembl":"ENSG00000214960","omim":"614631","loci":["7p21.2"]},{"symbol":"DAG1","name":"dystroglycan 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25934851[PMID]","hgnc":"2666","ensembl":"ENSG00000173402","omim":"128239","loci":["3p21.31"]},{"symbol":"FKRP","name":"fukutin related protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20236121[PMID]","hgnc":"17997","ensembl":"ENSG00000181027","omim":"606596","loci":["19q13.32"]},{"symbol":"FKTN","name":"fukutin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"18177472[PMID]_17878207[PMID]","hgnc":"3622","ensembl":"ENSG00000106692","omim":"607440","loci":["9q31.2"]},{"symbol":"POMGNT2","name":"protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"22958903[PMID]","hgnc":"25902","ensembl":"ENSG00000144647","omim":"614828","loci":["3p22.1"]},{"symbol":"POMK","name":"protein O-mannose kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23519211[PMID]","hgnc":"26267","ensembl":"ENSG00000185900","omim":"615247","loci":["8p11.21"]},{"symbol":"POMT1","name":"protein O-mannosyltransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19880378[PMID]","hgnc":"9202","ensembl":"ENSG00000130714","omim":"607423","loci":["9q34.13"]},{"symbol":"POMT2","name":"protein O-mannosyltransferase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19880378[PMID]","hgnc":"19743","ensembl":"ENSG00000009830","omim":"607439","loci":["14q24.3"]},{"symbol":"RXYLT1","name":"ribitol xylosyltransferase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) 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000","value":0.03,"area":"United Kingdom","status":"Validated","source":"19767415[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.65,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.2,"area":"Italy","status":"Validated","source":"8786062[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-06-28","source":null,"terms":[{"hpo":"HP:0012400","label":"Abnormal aldolase level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0040081","label":"Abnormal circulating creatine kinase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002536","label":"Abnormal cortical gyration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0045040","label":"Abnormal lactate dehydrogenase activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000587","label":"Abnormal optic nerve morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002269","label":"Abnormality of neuronal migration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002334","label":"Abnormality of the cerebellar vermis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001460","label":"Aplasia/Hypoplasia involving the skeletal musculature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001284","label":"Areflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007731","label":"Chorioretinal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001339","label":"Lissencephaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010508","label":"Metatarsus valgus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003560","label":"Muscular dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001302","label":"Pachygyria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007973","label":"Retinal dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000556","label":"Retinal dystrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001331","label":"Absent septum 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(29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000482","label":"Microcornea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000358","label":"Posteriorly rotated ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000411","label":"Protruding ear","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000176","label":"Submucous cleft hard palate","frequency":"Occasional (29-5%)","criteria":null}]}}