{"orpha":65288,"name":"Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Pancreatic and cerebellar agenesis"],"definition":"A rare neurologic disease characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. Absence or hypoplasia of the cerebellum and severe intra-uterine growth retardation can be detected prenatally. Patients also present with facial dysmorphism (a triangular face, small chin, low set ears), flexion contractures of the arms and legs, very little subcutaneous fat, and optic nerve hypoplasia. The disease is lethal in the neonatal period.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-65288/","orphanet_url":"https://www.orpha.net/en/disease/detail/65288","names":{"fr":{"name":"Syndrome de diabète sucré néonatal permanent-agénésie du cervelet et du pancréas","synonyms":["Agénésie du cervelet et du pancréas"],"definition":"Maladie neurologique rare caractérisée par un diabète sucré néonatal associé à une agénésie du cervelet et/ou du pancréas. L'absence ou l'hypoplasie du cervelet et un retard de croissance intra-utérin sévère peuvent être détectés pendant la période prénatale. Les patients présentent également une dysmorphie faciale (visage triangulaire, petit menton, oreilles d'implantation basse), des contractures en flexion des bras et des jambes, très peu de graisse sous-cutanée et une hypoplasie du nerf optique. La maladie est létale pendant la période néonatale."},"de":{"name":"Permanenter neonataler Diabetes mellitus mit Pankreas- und Kleinhirn-Agenesie","synonyms":["Pankreas- und Kleinhirnagenesie"],"definition":"Eine seltene neurologische Erkrankung, die durch einen neonatalen Diabetes mellitus in Verbindung mit einer Kleinhirn- und/oder Pankreas-Agenesie gekennzeichnet ist. Das Fehlen oder die Hypoplasie des Kleinhirns und eine schwere intrauterine Wachstumsverzögerung können pränatal festgestellt werden. Die Patienten zeigen auch Gesichtsdysmorphien (dreieckiges Gesicht, kleines Kinn, tief angesetzte Ohren), Flexionskontrakturen der Arme und Beine, sehr wenig subkutanes Fett und eine Hypoplasie des Sehnervs. Die Krankheit verläuft in der Neugeborenenperiode tödlich."},"es":{"name":"Síndrome de diabetes mellitus neonatal permanente-agenesia pancreática y cerebelosa","definition":"Es una enfermedad neurológica poco frecuente caracterizada por diabetes mellitus neonatal asociada a agenesia cerebelosa y/o pancreática. La ausencia o hipoplasia del cerebelo y el retraso grave del crecimiento intrauterino son detectables en el periodo prenatal. Los pacientes también presentan dismorfia facial (cara triangular, mentón pequeño, orejas de implantación baja), contracturas en flexión de brazos y piernas, escasez de grasa subcutánea e hipoplasia del nervio óptico. La enfermedad es letal en el período neonatal."},"it":{"name":"Diabete mellito neonatale permanente - agenesia pancreatica e cerebellare","synonyms":["Agenesia pancreatica e cerebellare"]},"nl":{"name":"Permanente neonatale diabetes mellitus - agenesie van pancreas en cerebellum-syndroom","synonyms":["Agenesie van pancreas en cerebellum"],"definition":"Een zeldzame neurologische aandoening, gekenmerkt door neonatale diabetes mellitus geassocieerd met agenesie van cerebellum en/of pancreas. Afwezigheid of hypoplasie van cerebellum en ernstige intra-uteriene groeiretardatie kunnen prenataal gedetecteerd worden. Patiënten presenteren zich ook met faciale dysmorfie (driehoekig aangezicht, kleine kin, laagstaande oren), flexiecontracturen van armen en benen, zeer weinig onderhuids vetweefsel, en hypoplasie van oogzenuw. De ziekte is letaal in de neonatale periode."},"pt":{"name":"Síndrome de diabetes mellitus neonatal permanente-agenesia pancreática e cerebelosa","synonyms":["Agenesia pancreática e cerebelosa"],"definition":"Doença neurológica rara caracterizada por diabetes mellitus neonatal associada à agenesia cerebelar e/ou pancreática. Ausência ou hipoplasia do cerebelo e atraso grave do crescimento intrauterino podem ser detetados pré-natalmente. Os doentes também apresentam dismorfismo facial (face triangular, queixo pequeno, orelhas de inserção baixa), contraturas de flexão dos braços e pernas, muito pouca gordura subcutânea e hipoplasia do nervo óptico. A doença é letal no período neonatal."},"pl":{"name":"Utrwalona cukrzyca noworodkowa - agnezja trzustki i móżdżku","synonyms":["Agnezja trzustki i móżdżku"],"definition":"Rzadka choroba neurologiczna charakteryzująca się cukrzycą noworodkową z towarzyszącą agenezją móżdżku i/lub trzustki. Brak lub hipoplazję móżdżku i poważne wewnątrzmaciczne zahamowanie wzrostu można wykryć prenatalnie. U pacjentów występuje również dysmorfia twarzy (trójkątna twarz, mały bródka, nisko osadzone uszy), przykurcze zgięciowe kończyn górnych i dolnych, bardzo mała ilość tkanki tłuszczowej podskórnej oraz hipoplazja nerwu wzrokowego. Choroba prowadzi do śmierci w okresie noworodkowym."},"cs":{"name":"Syndrom zahrnující permanentní novorozenecký diabetes mellitus a pankreatickou a cerebelární agenezi","synonyms":["Pankreatická a cerebelární ageneze"]},"uk":{"name":"Синдром перманентного неонатального цукрового діабету-агенезії підшлункової залози та мозочка","synonyms":["Агенезія підшлункової залози та мозочка"],"definition":"A rare neurologic disease characterized by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. Absence or hypoplasia of the cerebellum and severe intra-uterine growth retardation can be detected prenatally. Patients also present with facial dysmorphism (a triangular face, small chin, low set ears), flexion contractures of the arms and legs, very little subcutaneous fat, and optic nerve hypoplasia. The disease is lethal in the neonatal period."},"zh":{"name":"永久新生儿糖尿病-胰腺和小脑发育不全综合征","synonyms":["胰腺和小脑发育不全"]},"tr":{"name":"Yenidoğanın kalıcı diabetes mellitusu-pankreas ve serebellar agenezis sendromu","synonyms":["Pankreas ve serebellar agenezi"]}},"xrefs":[{"source":"OMIM","code":"609069","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"KB60.2Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1871318195"},{"source":"MONDO","code":"0012192","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563796","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1836780","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":269567,"name":"Genetic syndrome with a cerebellar malformation as a major feature","classifications":[156]},{"orpha":224,"name":"Neonatal diabetes mellitus","classifications":[156,193]},{"orpha":269523,"name":"Syndrome with a cerebellar malformation as a major feature","classifications":[147,181]}],"children":[],"genes":[{"symbol":"PTF1A","name":"pancreas associated transcription factor 1a","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"15543146[PMID]_20301317[PMID]","hgnc":"23734","ensembl":"ENSG00000168267","omim":"607194","loci":["10p12.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"24212882[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"15543146[PMID]","terms":[{"hpo":"HP:0001321","label":"Cerebellar hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000857","label":"Neonatal insulin-dependent diabetes mellitus","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000609","label":"Optic nerve hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000331","label":"Short chin","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000325","label":"Triangular face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100800","label":"Aplasia/Hypoplasia of the pancreas","frequency":"Frequent (79-30%)","criteria":null}]}}