{"orpha":93925,"name":"Alobar holoprosencephaly","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":[],"definition":"A severe form of holoprosencephaly characterized by a single brain ventricle and no interhemispheric fissure. Severe craniofacial features may manifest as cyclopia, ethmocephaly or cebocephaly.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93925/","orphanet_url":"https://www.orpha.net/en/disease/detail/93925","names":{"fr":{"name":"Holoprosencéphalie alobaire","definition":"Forme sévère d'holoprosencéphalie caractérisée par un ventricule cérébral unique avec absence de scissure interhémisphérique. Les malformations craniofaciales sévères peuvent se manifester par une cyclopie, une ethmocéphalie ou une cébocéphalie."},"de":{"name":"Holoprosenzephalie, alobäre","definition":"Eine schwere Form der Holoprosenzephalie mit nur einem Hirnventrikel und ohne interhemisphärische Fissur. Schwere kraniofaziale Merkmale können sich als Zyklopie, Ethmozephalie oder Zebozephalie manifestieren."},"es":{"name":"Holoprosencefalia alobar","definition":"Es una forma grave de holoprosencefalia caracterizada por un ventrículo cerebral único y por la ausencia de cisura interhemisférica. Las características craneofaciales graves pueden manifestarse como ciclopía, etmocefalia o cebocefalia."},"it":{"name":"Oloprosencefalia alobare","definition":"Si tratta di una forma grave di oloprosencefalia, caratterizzata da un unico ventricolo cerebrale, in assenza della fessura interemisferica. I dismorfismi craniofacciali sono gravi e comprendono la ciclopia, l'etmocefalia e la cebocefalia."},"nl":{"name":"Alobaire holoprosencefalie","definition":"Een ernstige vorm van holoprosencefalie, gekarakteriseerd door één enkel hersenventrikel en geen fissura longitudinalis cerebri. Ernstige craniofaciale kenmerken kunnen zich manifesteren als cyclopie, ethmocefalie of cebocefalie."},"pt":{"name":"Holoprosencefalia alobar","definition":"A holoprosencefalia alobar é a forma clássica mais grave de holoprosencefalia (HPE, ver este termo), caracterizada por um ventrículo cerebral único e sem fissura inter-hemisférica."},"pl":{"name":"Holoprozencefalia alobarna"},"cs":{"name":"Alobární holoprosencefalie"},"uk":{"name":"Алобарна голопрозенцефалія","definition":"A severe form of holoprosencephaly characterized by a single brain ventricle and no interhemispheric fissure. Severe craniofacial features may manifest as cyclopia, ethmocephaly or cebocephaly."},"zh":{"name":"无脑叶畸形","definition":"前脑无裂畸形一种最严重的经典类型，其特征是只有一个脑室，没有半球间裂。"},"tr":{"name":"Alobar holoprozensefali"}},"xrefs":[{"source":"OMIM","code":"157170","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"301043","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609637","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"610829","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LA05.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"381193163"},{"source":"MONDO","code":"0019757","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0431363","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":2162,"name":"Holoprosencephaly","classifications":[147,156,181,193]}],"children":[],"genes":[{"symbol":"STAG2","name":"STAG2 cohesin complex component","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"31334757[PMID]","hgnc":"11355","ensembl":"ENSG00000101972","omim":"300826","loci":["Xq25"]},{"symbol":"CDON","name":"cell adhesion associated, oncogene regulated","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"17104","ensembl":"ENSG00000064309","omim":"608707","loci":["11q24.2"]},{"symbol":"CRIPTO","name":"cripto, EGF-CFC family member","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) 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product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3814","ensembl":"ENSG00000160973","omim":"603621","loci":["8q24.3"]},{"symbol":"GAS1","name":"growth arrest specific 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"4165","ensembl":"ENSG00000180447","omim":"139185","loci":["9q21.33"]},{"symbol":"GLI2","name":"GLI family zinc finger 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"4318","ensembl":"ENSG00000074047","omim":"165230","loci":["2q14.2"]},{"symbol":"NODAL","name":"nodal growth differentiation factor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"7865","ensembl":"ENSG00000156574","omim":"601265","loci":["10q22.1"]},{"symbol":"PLCH1","name":"phospholipase C eta 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33820834[PMID]","hgnc":"29185","ensembl":"ENSG00000114805","omim":"612835","loci":["3q25.31"]},{"symbol":"PTCH1","name":"patched 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"9585","ensembl":"ENSG00000185920","omim":"601309","loci":["9q22.32"]},{"symbol":"SHH","name":"sonic hedgehog signaling molecule","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"10848","ensembl":"ENSG00000164690","omim":"600725","loci":["7q36.3"]},{"symbol":"SIX3","name":"SIX homeobox 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"10889","ensembl":"ENSG00000138083","omim":"603714","loci":["2p21"]},{"symbol":"STIL","name":"STIL centriolar assembly protein","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29785796[PMID]","hgnc":"10879","ensembl":"ENSG00000123473","omim":"181590","loci":["1p33"]},{"symbol":"TGIF1","name":"TGFB induced factor homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"11776","ensembl":"ENSG00000177426","omim":"602630","loci":["18p11.31"]},{"symbol":"ZIC2","name":"Zic family zinc finger 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"12873","ensembl":"ENSG00000043355","omim":"603073","loci":["13q32.3"]}],"genes_via_subtypes":[],"inheritance":["Multigenic/multifactorial","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-06-09","source":"30182446[PMID]_20301702[PMID]_30182444[PMID]","terms":[{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent 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