{"orpha":95496,"name":"Pituitary stalk interruption syndrome","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":["Ectopic neurohypophysis","PSIS"],"definition":"Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-95496/","orphanet_url":"https://www.orpha.net/en/disease/detail/95496","names":{"fr":{"name":"Rupture de la tige pituitaire","synonyms":["PSIS","Posthypophyse ectopique","Rupture de la tige hypophysaire","Syndrome d'interruption de la tige hypophysaire","Syndrome d'interruption de la tige pituitaire"],"definition":"Le syndrome d'interruption de la tige hypophysaire (SITH) est une anomalie congénitale de l'hypophyse responsable d'une insuffisance hypophysaire et caractérisée en général par une triade associant une tige pituitaire très fine ou interrompue, une post-hypophyse ectopique (PHE) ou absente et une hypoplasie ou une aplasie de l'hypophyse antérieure, visibles à l'IRM. Chez certains patients, l'anomalie peut se limiter à une PHE (aussi appelée neurohypophyse ectopique) ou à une tige pituitaire interrompue."},"de":{"name":"Hypophysenstieldurchtrennung, isolierte","synonyms":["Neurohypophyse, ektopische","PSIS"],"definition":"Das Syndrom der Isolierten Hypophysenstieldurchtrennung (PSIS) ist eine angeborene Anomalie der Hypophyse, die einen Mangel der Hypophysenhormone verursacht und bei den meisten Patienten durch die Symptomentrias eines sehr dünnen oder unterbrochenen Hypophysenstiels, einen ektopischen (oder fehlenden) Hypophysenhinterlappen (HHL) und im MRI erkennbare Hypoplasie oder Aplasie des Hypophysenvorderlappens gekennzeichnet ist. Bei einigen Patienten ist die Anomalie auf den HHL (als ektopische Neurohypophyse bezeichnet) oder eine Unterbrechung des Hypophysenstiels begrenzt."},"es":{"name":"Síndrome de interrupción del tallo hipofisario","definition":"El síndrome de interrupción del tallo hipofisario (PSIS, por sus siglas en inglés) es una anomalía congénita de la hipófisis que provoca una deficiencia hipofisaria y que se caracateriza generalmente por una triada que incluye: tallo hipofisario interrumpido o muy delgado, hipófisis posterior ectópica (o ausente) (EPP), y aplasia o hipoplasia de la hipófisis anterior visible por resonancia nuclear magnética (RNM). En algunos pacientes la anomalía puede limitarse a la EPP (también llamada neurohipófisis ectópica) o a presentar el tallo hipofisario interrumpido."},"it":{"name":"Sindrome da interruzione del peduncolo ipofisario","synonyms":["Neuroipofisi ectopica","PSIS"]},"nl":{"name":"Interruptie van hypofysesteel-syndroom","synonyms":["'Pituitary stalk interruption'-syndroom","Ectopische neurohypofyse","PSIS"],"definition":"Interruptie van hypofysesteel-syndroom (PSIS) is een congenitale anomalie van hypofyse die verantwoordelijk is voor deficiëntie van hypofyse, meestal gekenmerkt door de triade van zeer dunne of onderbroken hypofysesteel, ectopische (of afwezige) neurohypofyse (EPP), en hypoplasie of aplasie van adenohypofyse zichtbaar met MRI. Bij sommige patiënten kan de afwijking beperkt zijn tot EPP of een onderbroken hypofysesteel."},"pt":{"name":"Neurohipófise ectópica, isolada","definition":"O síndrome de interrupção do pedúnculo hipófisário (SIPH) é uma anomalia congénita da hipófise que é responsável por deficiência da pituitária e é habitualmente caracterizado pela seguinte tríade, visível em ressonância magnética: pedúnculo muito fino ou interrompido, pituitária posterior ectópica (ou ausente) (PPE) e hipoplasia ou aplasia da pituitária anterior. Em alguns doentes a anomalia pode ser limitada a PPE (também chamada de neurohipófise ectópica) ou a um pedúnculo da pituitária interrompido."},"pl":{"name":"Zespół przerwania szypuły przysadki","synonyms":["Ektopowa przysadka","PSIS"]},"cs":{"name":"Syndrom přerušení hypofyzární stopky","synonyms":["Ektopická neurohypofýza","PSIS"]},"uk":{"name":"Синдром переривання гіпофізарної ніжки","synonyms":["Ектопічний нейрогіпофіз","PSIS"],"definition":"Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. In some patients the abnormality may be limited to EPP (also called ectopic neurohypophysis) or to an interrupted pituitary stalk."},"zh":{"name":"垂体柄中断综合征","synonyms":["异位神经垂体"],"definition":"垂体柄中断综合征（PISS）是一种先天性垂体异常，是导致垂体缺陷的原因，其特征是垂体柄非常薄或中断、垂体后叶异位（EPP）或缺失和垂体前叶发育不全或不发育。在一些病人中，这种异常可能局限于EPP（也称为异位神经垂体）或垂体柄中断。"},"tr":{"name":"Hipofiz sapı kesinti sendromu","synonyms":["PSIS","Ektopik nörohipofiz"]}},"xrefs":[{"source":"OMIM","code":"620303","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E23.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A61.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1474283222"},{"source":"MONDO","code":"0019828","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4053775","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13209","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10088621","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":95488,"name":"Non-acquired pituitary hormone deficiency","classifications":[156,193]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"PROKR2","name":"prokineticin receptor 2","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Assessed","source":"28453850[PMID]","hgnc":"15836","ensembl":"ENSG00000101292","omim":"607123","loci":["20p12.3"]},{"symbol":"WDR11","name":"WD repeat domain 11","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Assessed","source":"28453850[PMID]","hgnc":"13831","ensembl":"ENSG00000120008","omim":"606417","loci":["10q26.12"]},{"symbol":"ROBO1","name":"roundabout guidance receptor 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"28402530[PMID]","hgnc":"10249","ensembl":"ENSG00000169855","omim":"602430","loci":["3p12.3"]},{"symbol":"CDON","name":"cell adhesion associated, oncogene regulated","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26529631[PMID]","hgnc":"17104","ensembl":"ENSG00000064309","omim":"608707","loci":["11q24.2"]},{"symbol":"GPR161","name":"G protein-coupled receptor 161","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25322266[PMID]","hgnc":"23694","ensembl":"ENSG00000143147","omim":"612250","loci":["1q24.2"]},{"symbol":"HESX1","name":"HESX homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21270112[PMID]","hgnc":"4877","ensembl":"ENSG00000163666","omim":"601802","loci":["3p14.3"]},{"symbol":"LHX4","name":"LIM homeobox 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21270112[PMID]","hgnc":"21734","ensembl":"ENSG00000121454","omim":"602146","loci":["1q25.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive","Not applicable"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"25322266[PMID]_26733480[PMID]_25322266[PMID]_22466334[PMID]_9329385[PMID]","terms":[{"hpo":"HP:0011755","label":"Ectopic posterior pituitary","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000864","label":"Abnormality of the hypothalamus-pituitary axis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008736","label":"Hypoplasia of penis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000835","label":"Adrenal hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000028","label":"Cryptorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001522","label":"Death in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000873","label":"Diabetes insipidus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000786","label":"Primary amenorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100842","label":"Septo-optic dysplasia","frequency":"Occasional (29-5%)","criteria":null}]}}