{"orpha":280200,"name":"Microform holoprosencephaly","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["HPE, minor form","HPE-L","Holoprosencephaly, minor form","Holoprosencephaly-like","Microform HPE"],"definition":"A benign form of holoprosencephaly characterized by midline defects without the typical HPE defect in brain cleavage and which can variably manifest with microcephaly, hypotelorism, midline cleft lip and/or flat nose, choanal stenosis, pyriform sinus stenosis, coloboma as well as a single median maxillary incisor.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280200/","orphanet_url":"https://www.orpha.net/en/disease/detail/280200","names":{"fr":{"name":"Holoprosencéphalie microforme","synonyms":["HPE microforme","HPE-L","Holoprosencéphalie like"],"definition":"Forme bénigne d'holoprosencéphalie caractérisée par des anomalies de la ligne médiane sans défaut de clivage cérébral typique de l'holoprosencéphalie (HPE) et pouvant se manifester, de manière inconstante, par les signes suivants : microcéphalie, hypotélorisme, fente labiale médiane et/ou nez aplati, atrésie choanale, sténose des orifices piriformes, colobome et incisive maxillaire médiane unique."},"de":{"name":"Holoprosenzephalie, mikroforme","synonyms":["HPE, mikroforme","HPE-L","Mikroform der Holoprosenzephalie"],"definition":"Eine benigne Form der Holoprosenzephalie, die durch Mittelliniendefekte ohne den typischen HPE-Defekt der Hirnspaltung gekennzeichnet ist und sich variabel mit Mikrozephalie, Hypotelorismus, Mittellinienspalte und/oder flacher Nase, Choanalstenose, Sinus-pyriformis-Stenose, Kolobom sowie einem einzelnen mittleren Schneidezahn im Oberkiefer manifestieren kann.."},"es":{"name":"Holoprosencefalia microforma","synonyms":["HPE microforma","HPE, forma menor","HPE-L","Holoprosencefalia, forma menor","Similar a holoprosencefalia"],"definition":"Es una forma benigna de holoprosencefalia caracterizada por anomalías de la línea media sin el defecto en la división cerebral típico de la HPE y que puede manifestarse de manera variable con microcefalia, hipotelorismo, hendidura labial en la línea media y/o nariz aplanada, estenosis de coanas, estenosis de senos piriformes, coloboma así como un incisivo maxilar medio único."},"it":{"name":"Oloprosencefalia microforma","synonyms":["HPE microforma"],"definition":"La microforma dell'oloprosencefalia è un quadro benigno di oloprosencefalia (HPE; si veda questo termine) caratterizzato da anomalie della linea mediana, in assenza del peculiare difetto nella divisione degli emisferi cerebrali presente nell'HPE."},"nl":{"name":"Microforme holoprosencefalie","synonyms":["HPE, lichte vorm","HPE-L","Holoprosencefalie, lichte vorm","Holoprosencefalie-achtig","Microforme HPE"],"definition":"Een goedaardige vorm van holoprosencefalie, gekarakteriseerd door defecten van middellijn zonder typisch HPE-defect van splitsing van hersenen, en variabele manifestaties als microcefalie, hypotelorisme, mediane schisis van lip en/of platte neus, stenose van choana, stenose van sinus piriformis, coloboom alsook solitaire mediane maxillaire snijtand."},"pt":{"name":"Holoprosencefalia microforma","synonyms":["HPE microforma"],"definition":"A holoprosencefalia microforma é uma forma benigna de holoprosencefalia (HPE, ver este termo), caracterizada por defeitos da linha média sem o defeito típico de HPE na clivagem do cérebro."},"pl":{"name":"Holoprosencefalia typu mikroform","synonyms":["HPE-L","HPE typu mikroform"]},"cs":{"name":"Mikroforma holoprosencefalie","synonyms":["Mikroforma HPE"]},"uk":{"name":"Мікроформа голопрозенцефалії","synonyms":["Голопрозенцефалія, легка форма","Голопрозенцефалоподібні","HPE, мінорна форма","HPE-L","Мікроформа HPE"],"definition":"A benign form of holoprosencephaly characterized by midline defects without the typical HPE defect in brain cleavage and which can variably manifest with microcephaly, hypotelorism, midline cleft lip and/or flat nose, choanal stenosis, pyriform sinus stenosis, coloboma as well as a single median maxillary incisor."},"zh":{"name":"微缩型前脑无裂畸形","synonyms":["微型前脑无裂畸形"],"definition":"微小前脑无裂畸形是一种良性的前脑无裂畸形（HPE，见本术语），以中线缺陷为特征，无典型的HPE脑裂缺陷。"},"tr":{"name":"Mikroform holoprozensefali","synonyms":["HPE-L","Mikroform HPE","HPE, minör form","Holoprozensefali-benzeri","Holoprozensefali, minör form"]}},"xrefs":[{"source":"OMIM","code":"147250","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"157170","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":"44293173"},{"source":"MONDO","code":"0017219","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5393309","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":2286,"name":"OBSOLETE: Solitary median maxillary central incisor syndrome","status":"inactive"},{"type":"Referred to","orpha":162521,"name":"OBSOLETE: Congenital nasal pyriform aperture stenosis with holoprosencephaly","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":268926,"name":"Midline cerebral malformation","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"FGFR1","name":"fibroblast growth factor receptor 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"27363716[PMID]","hgnc":"3688","ensembl":"ENSG00000077782","omim":"136350","loci":["8p11.23"]},{"symbol":"SUFU","name":"SUFU negative regulator of hedgehog signaling","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"27363716[PMID]","hgnc":"16466","ensembl":"ENSG00000107882","omim":"607035","loci":["10q24.32"]},{"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) in","status":"Assessed","source":null,"hgnc":"11701","ensembl":"ENSG00000241186","omim":"187395","loci":["3p21.31"]},{"symbol":"DISP1","name":"dispatched RND transporter family member 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"19711","ensembl":"ENSG00000154309","omim":"607502","loci":["1q41"]},{"symbol":"DLL1","name":"delta like canonical Notch ligand 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"2908","ensembl":"ENSG00000198719","omim":"606582","loci":["6q27"]},{"symbol":"FGF8","name":"fibroblast growth factor 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"3686","ensembl":"ENSG00000107831","omim":"600483","loci":["10q24.32"]},{"symbol":"FOXH1","name":"forkhead box H1","gene_type":"gene with protein 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":"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":"11471164[PMID]","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":"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"],"onset":["Childhood","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":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000453","label":"Choanal atresia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010644","label":"Midnasal stenosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006315","label":"Single median maxillary incisor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000446","label":"Narrow nasal bridge","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000322","label":"Short philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010804","label":"Tented upper lip vermilion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000062","label":"Ambiguous genitalia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009914","label":"Cyclopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002247","label":"Duodenal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003458","label":"EMG: myopathic abnormalities","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001028","label":"Hemangioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001360","label":"Holoprosencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000612","label":"Iris coloboma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009800","label":"Maternal diabetes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000202","label":"Orofacial cleft","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000871","label":"Panhypopituitarism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000104","label":"Renal agenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003196","label":"Short nose","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001636","label":"Tetralogy of Fallot","frequency":"Occasional (29-5%)","criteria":null}]}}