{"orpha":93926,"name":"Midline interhemispheric variant of holoprosencephaly","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["MIH","MIH type HPE","MIHF","MIHV","Middle interhemispheric fusion variant","Middle interhemispheric variant of holoprosencephaly","Syntelencephaly"],"definition":"Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-93926/","orphanet_url":"https://www.orpha.net/en/disease/detail/93926","names":{"fr":{"name":"Variant interhémisphérique médian de l'holoprosencéphalie","synonyms":["MIHV","Syntélencéphalie","MIH","MIH type HPE","MIHF"],"definition":"La variante interhémisphérique médiane de l'holoprosencéphalie (HPE), ou syntélencéphalie, est une forme d'HPE avec fusion des lobes frontaux postérieurs et pariétaux, genou calleux et splenium normalement développés, séparation normale de l'hypothalamus et des noyaux lenticulaires avec souvent hétérotopies de substance grise et absence du tronc du corps corpus calleux."},"de":{"name":"Mittlere interhemisphärische Fusionsvariante der Holoprosenzephalie","synonyms":["MIH","MIH vom Typ HPE","MIHF","MIHV","Mittlere interhemisphärische Fusionsvariante","Syntelenzephalie"],"definition":"Die Interhemisphärische Mittellinienvariante der Holoprosenzephalie (MIH) oder Syntelenzephalie ist eine Form der Holoprosenzephalie (HPE; s. dort) mit fehlender Trennung des hinteren Anteils der Stirn- und Schläfenlappen, normal geformtem Genu callosum und Splenium, fehlendem Corpus callosum, normaler Trennung des Hypothalamus und der Linsenkerne und häufigen Heterotopien der grauen Substanz. Etwa 2-15% der HPE-Patienten haben den MIH-Typ. Die Patienten haben eher milde faziale Dysmorphien (Hypotelorismus, flacher oder schmaler Nasenrücken) oder ein relativ normales Gesicht."},"es":{"name":"Variante interhemisférica media de la holoprosencefalia","synonyms":["MIH","MIH tipo HPE","MIHF","MIHV","Sintelencefalia","Variante de fusión interhemisférica media"],"definition":"La variante interhemisférica media de la holoprosencefalia (MIH) o sintelencefalia es una forma de holoprosencefalia (HPE; consulte este término) caracterizada por la ausencia de separación entre la región posterior del lóbulo frontal y parietal, con el genu y esplenio del cuerpo calloso formados con normalidad, ausencia del cuerpo del cuerpo calloso, normal separación del hipotálamo y de los núcleos lenticulares, y frecuentemente sustancia gris heterotópica."},"it":{"name":"Oloprosencefalia, variante interemisferica della linea mediana","synonyms":["HPE, tipo MIH","MIH","MIHF","MIHV","Sintelencefalia","Variante da fusione interemisferica mediana","Variante interemisferica mediana dell'oloprosencefalia"],"definition":"La variante interemisferica mediana dell'oloprosencefalia (MIH) o sintelencefalia è una forma di oloprosencefalia (HPE; si veda questo termine) caratterizzata dalla mancata separazione dei lobi parietale e frontale posteriore, dalla normale conformazione del ginocchio e dello splenio del corpo calloso, dall'agenesia parziale del corpo calloso, dalla normale conformazione dell'ipotalamo e dei nuclei lentiformi, e dalla frequente eteropia della sostanza bianca."},"nl":{"name":"Middellijn interhemisferische variant van holoprosencefalie","synonyms":["MIH","MIH type HPE","MIHF","MIHV","Midden interhemisferische fusievariant","Midden interhemisferische variant van holoprosencefalie","Syntelencefalie"],"definition":"Middellijn interhemisferische variant van holoprosencefalie (MIH) is een vorm van holoprosencefalie (HPE; zie deze term) gekenmerkt door de niet-scheiding van de achterste frontale en pariëtale kwabben, een normaal gevormd genu en splenium corporis callosi en een afwezige truncus, een normaal gescheiden hypothalamus en nucleus lentiformis, en vaak heterotopische grijze stof."},"pt":{"name":"Holoprosencefalia, variante interhemisférica média","definition":"A variante da linha média inter-hemisférica de holoprosencefalia (MIH) ou sintelencefalia é uma forma de holoprosencefalia (HPE, ver este termo) caracterizada por não-separação dos lobos frontal posterior e parietal, genu calossal e esplénio normalmente formados, ausência do corpo caloso, hipotálamo e núcleos lentiforme normalmente separados e substância cinzenta heterotópica frequente."},"pl":{"name":"Pośrodkowy międzypółkulowy wariant holoprozencefalii","synonyms":["MIH","MIH typu HPE","MIHF","MIHV","Pośrodkowy międzypółkulowy wariant holoprozencefalii","Syntelencefalia"]},"cs":{"name":"Interhemisférická varianta holoprosencefalie ve střední čáře","synonyms":["MIH","MIH typ HPE","MIHF","MIHV"]},"uk":{"name":"Серединний міжпівкульний варіант голопрозенцефалії","synonyms":["Середній міжпівкульний варіант злиття","Середній міжпівкульний варіант голопрозенцефалії","MIH","MIH тип HPE","MIHF","MIHV","Синтесенцефалія"],"definition":"Midline interhemispheric variant of holoprosencephaly (MIH) or syntelencephaly is a form of holoprosencephaly (HPE; see this term) characterized by non-separation of the posterior frontal and parietal lobes, normally-formed callosal genu and splenium, absence of the callosal body, normally-separated hypothalamus and lentiform nucleus, and frequent heterotopic gray matter."},"zh":{"name":"半球中线变异型前脑无裂畸形","synonyms":["前脑无裂畸形半球中央变异型"],"definition":"前脑无裂畸形半球中线变异型（MIH）或大脑半球中线融合病是前脑无裂畸形（HPE；见该词条）的一种类型，其特征是额叶后部和顶叶不分离，胼胝体膝部和压部正常，体部缺失，下丘脑和豆状核正常分离，并出现多发性灰质异位。"},"tr":{"name":"Holoprozensefalinin orta hat interhemisferik varyantı","synonyms":["MIH","MIHF","MIHV","MIH tip HPE","Sintelensefali","Orta interhemisferik füzyon varyantı","Holoprozensefalinin orta interhemisferik varyantı"]}},"xrefs":[{"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":"520338638"},{"source":"UMLS","code":"C5396362","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":"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":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":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"31063520[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Worldwide","status":"Validated","source":"31063520[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.778,"area":"Romania","status":"Validated","source":"31063520[PMID]"}],"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 (99-80%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002363","label":"Abnormal brainstem morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012285","label":"Abnormal hypothalamus physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040327","label":"Abnormal morphology of the olfactory bulb","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002793","label":"Abnormal 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(29-5%)","criteria":null},{"hpo":"HP:0012806","label":"Proboscis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006315","label":"Single median maxillary incisor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009932","label":"Single naris","frequency":"Occasional (29-5%)","criteria":null}]}}