{"orpha":3157,"name":"Septo-optic dysplasia spectrum","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["De Morsier syndrome","SOD","Septo-optic dysplasia"],"definition":"A rare clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3157/","orphanet_url":"https://www.orpha.net/en/disease/detail/3157","names":{"fr":{"name":"Spectre de dysplasie septo-optique","synonyms":["DSO","Dysplasie septo-optique","SOD","Syndrome de De Morsier"],"definition":"La dysplasie septo-optique (DSO) est une entité clinique hétérogène définie par la triade classique : hypoplasie des nerfs optiques, déficits hormonaux hypophysaires et malformations cérébrales de la ligne médiane."},"de":{"name":"Septo-optische Dysplasie-Spektrum","synonyms":["De-Morsier-Syndrom","Dysplasie, septo-optische","SOD"],"definition":"Die septo-optische Dysplasie (SOD) ist eine klinisch heterogene Krankheit und gekennzeichnet durch die klassische Trias Hypoplasie der Sehnerven, Anomalien der Hypophysenhormone und Mittelliniendefekte des Hirns."},"es":{"name":"Espectro de la displasia septo-óptica","synonyms":["Displasia septo-óptica","SOD","Síndrome de De Morsier"],"definition":"La displasia septoóptica (DSO) es un trastorno clínicamente heterogéneo caracterizado por la triada clásica de hipoplasia del nervio óptico, anomalías de las hormonas hipofisarias y defectos de la línea media cerebral."},"it":{"name":"Spettro della displasia setto-ottica","synonyms":["Displasia setto-ottica","SOD","Sindrome di De Morsier"]},"nl":{"name":"Septo-optische dysplasie-spectrum","synonyms":["SOD","Septo-optische dysplasie","Syndroom van De Morsier"],"definition":"Een klinisch heterogene aandoening, gekenmerkt door de klassieke triade van hypoplasie van nervus opticus, afwijkingen van hypofysehormoon, en hersendefecten langs de middellijn."},"pt":{"name":"Espectro clínico de displasia septo-óptica","synonyms":["Síndrome De Morsier"]},"pl":{"name":"Spektrum dysplazji przegrodowo-ocznej","synonyms":["Dysplazja przegrodowo-oczna","SOD","Zespół De Morsiera"]},"cs":{"name":"Septooptická dysplázie","synonyms":["SOD","Spektrum septooptické dysplázie","De Morsierův syndrom"]},"uk":{"name":"Спектр септо-оптичної дисплазії","synonyms":["Синдром де Морсьє","Септо-оптична дисплазія","SOD"],"definition":"A rare clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects."},"zh":{"name":"透明隔-视神经发育不良疾病谱","synonyms":["透明隔-视神经发育不良"]},"tr":{"name":"Septo-optik displazi spektrumu","synonyms":["SOD","De Morsier sendromu","Septo-optik displazi"]}},"xrefs":[{"source":"OMIM","code":"182230","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q04.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"5A61.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1890642169"},{"source":"MONDO","code":"0008428","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D025962","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0338503","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7627","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10067159","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":1102,"name":"Anophthalmia-hypothalamo-pituitary insufficiency syndrome","status":"inactive"},{"type":"Moved to","orpha":1678,"name":"Dincsoy-Salih-Patel syndrome","status":"inactive"},{"type":"Moved to","orpha":2243,"name":"Hypopituitarism-micropenis-cleft lip/palate syndrome","status":"inactive"},{"type":"Moved to","orpha":2244,"name":"Hypopituitarism-microphthalmia syndrome","status":"inactive"},{"type":"Moved to","orpha":93943,"name":"Corpus callosum dysgenesis-hypopituitarism syndrome","status":"inactive"},{"type":"Moved to","orpha":370006,"name":"Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome","status":"inactive"}],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":95495,"name":"Disease associated with non-acquired combined pituitary hormone deficiency","classifications":[156,193]},{"orpha":269564,"name":"Genetic syndrome with a central nervous system malformation as a major feature","classifications":[156]},{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":441434,"name":"Syndromic hereditary optic neuropathy","classifications":[156,189]},{"orpha":137905,"name":"Syndromic optic nerve hypoplasia","classifications":[147,156,189]}],"children":[],"genes":[{"symbol":"ARNT2","name":"aryl hydrocarbon receptor nuclear translocator 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24022475[PMID]","hgnc":"16876","ensembl":"ENSG00000172379","omim":"606036","loci":["15q25.1"]},{"symbol":"FGFR1","name":"fibroblast growth factor receptor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22319038[PMID]","hgnc":"3688","ensembl":"ENSG00000077782","omim":"136350","loci":["8p11.23"]},{"symbol":"HESX1","name":"HESX homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17587179[PMID]_19623216[PMID]_21396578[PMID]_24802313[PMID]","hgnc":"4877","ensembl":"ENSG00000163666","omim":"601802","loci":["3p14.3"]},{"symbol":"OTX2","name":"orthodenticle homeobox 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21396578[PMID]_24802313[PMID]","hgnc":"8522","ensembl":"ENSG00000165588","omim":"600037","loci":["14q22.3"]},{"symbol":"PROKR2","name":"prokineticin receptor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22319038[PMID]","hgnc":"15836","ensembl":"ENSG00000101292","omim":"607123","loci":["20p12.3"]},{"symbol":"SOX2","name":"SRY-box transcription factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17587179[PMID]_19623216[PMID]_21396578[PMID]_24802313[PMID]","hgnc":"11195","ensembl":"ENSG00000181449","omim":"184429","loci":["3q26.33"]},{"symbol":"SOX3","name":"SRY-box transcription factor 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"17587179[PMID]_21396578[PMID]_24802313[PMID]","hgnc":"11199","ensembl":"ENSG00000134595","omim":"313430","loci":["Xq27.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Multigenic/multifactorial","Not applicable"],"onset":["Antenatal","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000609","label":"Optic nerve hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100842","label":"Septo-optic dysplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000864","label":"Abnormality of the hypothalamus-pituitary axis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001331","label":"Absent septum pellucidum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010627","label":"Anterior pituitary hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000175","label":"Cleft palate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","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:0000486","label":"Strabismus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030680","label":"Abnormal cardiovascular system morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000458","label":"Anosmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007360","label":"Aplasia/Hypoplasia of the cerebellum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000873","label":"Diabetes insipidus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002032","label":"Esophageal atresia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000966","label":"Hypohidrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009800","label":"Maternal diabetes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001513","label":"Obesity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001959","label":"Polydipsia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002575","label":"Tracheoesophageal fistula","frequency":"Occasional (29-5%)","criteria":null}]}}