{"orpha":306558,"name":"Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome is a rare, genetic, neurologic disease characterized by congenital microcephaly, severe, early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent, neonatal, insulin-dependent diabetes mellitus, and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties, and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-306558/","orphanet_url":"https://www.orpha.net/en/disease/detail/306558","names":{"fr":{"name":"Syndrome de microcéphalie primaire-épilepsie-diabète néonatal permanent","definition":"Maladie neurologique génétique rare caractérisée par une microcéphalie congénitale, une forme sévère et précoce d'encéphalopathie épileptique (se manifestant par des crises myocloniques et/ou tonico-cloniques réfractaires), un diabète néonatal permanent et insulino-dépendant et un retard de développement global sévère. Une hypotonie musculaire, des anomalies squelettiques, des difficultés à s'alimenter et une dysmorphie faciale (front étroit, narines antéversées, petite bouche avec philtrum profond, vermillon de la lèvre supérieure en forme de tente) sont fréquemment associées. L'IRM cérébrale révèle une atrophie cérébrale avec simplifications gyrales corticales et aplasie/hypoplasie du corps calleux."},"de":{"name":"Primäre Mikrozephalie-Epilepsie-permanenter neonataler Diabetes-Syndrom"},"es":{"name":"Síndrome de microcefalia primaria-epilepsia-diabetes neonatal permanente","definition":"El síndrome de microcefalia primaria - epilepsia - diabetes neonatal permanente, es una enfermedad neurológica, genética y poco frecuente, caracterizada por microcefalia congénita, encefalopatía epiléptica grave de inicio temprano (que se manifiesta con crisis mioclónicas y/o tónico-clónicas intratables), diabetes mellitus insulino-dependiente permanente de comienzo neonatal, y grave retraso global del desarrollo. Se asocian con frecuencia hipotonía muscular, anomalías esqueléticas, dificultades para alimentarse y rasgos faciales dismórficos (que incluyen frente estrecha, narinas antevertidas, boca pequeña con surco nasolabial profundo, labio superior en tienda de campaña, rojizo). La RM cerebral revela atrofia cerebral con simplificación de los surcos corticales y aplasia/hipoplasia del cuerpo calloso."},"it":{"name":"Sindrome da microcefalia primitiva, epilessia, diabete neonatale permanente","definition":"La sindrome che associa la microcefalia primitiva, l'epilessia e il diabete neonatale permanente è una malattia neurologica genetica rara, caratterizzata da microcefalia congenita, encefalopatia epilettica grave ad esordio precoce (che si manifesta con crisi miocloniche e/o tonico-cloniche non trattabili), diabete mellito neonatale insulino-dipendente permanente e grave ritardo dello sviluppo globale. Spesso i pazienti presentano ipotonia muscolare, anomalie scheletriche, difficoltà di alimentazione e dismorfismi facciali (fronte stretta, narici anteverse, bocca piccola con filtro profondo, porzione mucosa del labbro superiore ''a tenda''). La RMN del cervello evidenzia atrofia cerebrale con semplificazione delle circonvoluzioni corticali ed aplasia/ipoplasia del corpo calloso."},"nl":{"name":"Primaire microcefalie - epilepsie - permanente neonatale diabetes-syndroom","definition":"Primaire microcefalie - epilepsie - permanente neonatale diabetes-syndroom is een zeldzame, genetische, neurologische ziekte die gekarakteriseerd wordt door congenitale microcefalie, ernstige en vroeg aanvangende epileptische encefalopathie (die zich manifesteert als onbehandelbare, myoclonische en/of tonisch-clonische insulten), permanente, neonatale, insuline-afhankelijke diabetes mellitus, en ernstige algehele ontwikkelingsachterstand. Spierhypotonie, skeletanomalieën, voedingsproblemen, en dysmorfe gelaatskenmerken (waaronder smal voorhoofd, anteversie van de neusgaten, kleine mond met diep filtrum, tentvormig vermiljoen van de bovenlip) zijn frequent geassocieerd. MRI van de hersenen toont cerebrale atrofie met corticale gyrale vereenvoudiging en aplasie/hypoplasie van het corpus callosum."},"pt":{"name":"Síndrome de microcefalia primária – epilepsia – diabetes neonatal permanente"},"pl":{"name":"Zespół małogłowie pierwotne - padaczka - utrwalona cukrzyca noworodków","definition":"*Zespół małogłowie pierwotne - padaczka - utrwalona cukrzyca noworodków jest rzadką, genetycznie uwarunkowaną chorobą neurologiczną, która charakteryzuje się wrodzonym małogłowiem, ciężką encefalopatią padaczkową o wczesnym początku (objawiającą się opornymi na leczenie napadami mioklonicznymi i/lub toniczno-klonicznymi), nieprzemijającą, noworodkową, insulinozależną cukrzycą i znacznym całościowym opóźnieniem rozwoju. Często towarzyszy hipotonia mięśniowa, nieprawidłowości kostne, trudności w karmieniu i dysmorficzne rysy twarzy (wąskie czoło, zadarte nozdrza, małe usta z głęboką rynienką, namiotowata górna warga). W badaniu MRI mózgu widoczny jest zanik mózgu z uproszczonym wzorcem zakrętów korowych oraz zanik/niedorozwój ciała modzelowatego.inf brsup"},"cs":{"name":"Syndrom zahrnující primární mikrocefalii, epilepsii a permanentní neonatální diabetes"},"uk":{"name":"Синдром первинної мікроцефалії-епілепсії-перманентного неонатального діабету","definition":"Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome is a rare, genetic, neurologic disease characterized by congenital microcephaly, severe, early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent, neonatal, insulin-dependent diabetes mellitus, and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties, and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum."},"zh":{"name":"原发性小头性癫痫-永久性新生儿糖尿病综合征","definition":"原发性小头畸形-癫痫-永久性新生儿糖尿病综合征是一种罕见的遗传性神经系统疾病，其特征为先天性小头畸形、严重的早发性癫痫性脑病（表现为顽固性、肌阵挛性和/或强直阵挛性发作）、永久性新生儿胰岛素依赖型糖尿病，及重度全面发展迟缓。肌张力低下、骨骼异常、喂养困难和面部畸形（包括额头狭窄、鼻孔前翻、小嘴伴深人中、帐篷状上唇）。脑MRI显示大脑萎缩伴皮质回简单化和胼胝体发育不良。"},"tr":{"name":"Primer mikrosefali-epilepsi-kalıcı yenidoğan diyabet sendromu"}},"xrefs":[{"source":"OMIM","code":"614231","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619278","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A60.9","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"UMLS","code":"C5190632","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":166478,"name":"Cerebral malformation with epilepsy","classifications":[156,181]},{"orpha":181381,"name":"Other rare diabetes mellitus","classifications":[193]},{"orpha":183625,"name":"Rare genetic diabetes mellitus","classifications":[156]},{"orpha":269528,"name":"Syndrome with microcephaly as a major feature","classifications":[147,156,181]}],"children":[],"genes":[{"symbol":"IER3IP1","name":"immediate early response 3 interacting protein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21835305[PMID]","hgnc":"18550","ensembl":"ENSG00000134049","omim":"609382","loci":["18q21.1"]},{"symbol":"YIPF5","name":"Yip1 domain family member 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"33164987[PMID]","hgnc":"24877","ensembl":"ENSG00000145817","omim":"611483","loci":["5q31.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"28711742[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28711742[PMID]"}],"phenotypes":null}