{"entities":{"Q96955":{"pageid":87348,"ns":120,"title":"Item:Q96955","lastrevid":547833,"modified":"2026-08-16T12:59:09Z","type":"item","id":"Q96955","labels":{"mul":{"language":"mul","value":"ID_1871318195"},"pt-br":{"language":"pt-br","value":"Diabetes mellitus neonatal permanente \u2013 agenesia pancre\u00e1tica e cerebelar"},"en":{"language":"en","value":"Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Esta s\u00edndrome \u00e9 caracterizada por diabetes mellitus neonatal associada a agenesia cerebelar e/ou pancre\u00e1tica. Foi descrita em quatro pacientes: duas irm\u00e3s e sua prima pertencente a uma fam\u00edlia paquistanesa consangu\u00ednea, e um caso n\u00e3o relacionado (tamb\u00e9m nascido de pais consangu\u00edneos). Os pacientes tamb\u00e9m apresentam dismorfismo facial (rosto triangular, queixo pequeno, orelhas baixas), contraturas de flex\u00e3o de bra\u00e7os e pernas, muito pouca gordura subcut\u00e2nea e hipoplasia do nervo \u00f3ptico. Um dos pacientes tinha agenesia pancre\u00e1tica, e havia suspeita de hipoplasia pancre\u00e1tica para os outros. A s\u00edndrome \u00e9 transmitida como um transtorno recessivo autoss\u00f4mico. \u00c9 causada por muta\u00e7\u00f5es no gene PTF1A (10p12.3). O diagn\u00f3stico pr\u00e9-natal \u00e9 poss\u00edvel por meio da demonstra\u00e7\u00e3o da aus\u00eancia do cerebelo e do grave atraso no crescimento intrauterino. Todos os pacientes morreram no per\u00edodo neonatal."},"en":{"language":"en","value":"This syndrome is characterised by neonatal diabetes mellitus associated with cerebellar and/or pancreatic agenesis. It has been described in four patients: two sisters and their female cousin belonging to a consanguineous Pakistani family, and one unrelated case (also born to consanguineous parents). 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. One of the patients had pancreatic agenesis, and the others were suspected of having pancreatic hypoplasia. The syndrome is transmitted as an autosomal recessive disorder. It is caused by mutations in the PTF1A gene (10p12.3). Prenatal diagnosis is possible by demonstration of the absence of the cerebellum and severe intra-uterine growth retardation. All patients died in the neonatal period."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"a5d31bf17ff6a72347713f59b7b5b0ca42c8f0b7","datavalue":{"value":"https://id.who.int/icd/entity/1871318195","type":"string"},"datatype":"url"},"type":"statement","id":"Q96955$D45FC271-ACF6-4251-B21D-D9DFD1FAAFCC","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"bfe124eaa2541c607067f6b3c7d4e7d44d6a7606","datavalue":{"value":"CID11:ID_1871318195","type":"string"},"datatype":"string"},"type":"statement","id":"Q96955$A0B74DC2-2A8B-484B-87C3-8D1B227319B0","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"86f0239eb29bd6edaed686dcbcd770be53895cad","datavalue":{"value":"dki-india-ID_1871318195","type":"string"},"datatype":"string"},"type":"statement","id":"Q96955$B3DFB1F7-AF97-4E63-A3E0-88EE75A0F7D0","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q96955$F07D807C-D38C-49D2-B07C-35BA9DC95470","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q96955$A3167446-AD90-49CF-A97C-06B2CD26F553","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"378ac503ed43f21e1f461d2823a6ad59da580514","datavalue":{"value":{"time":"+2026-08-15T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q96955$B31FAD29-1C4F-49FC-804E-B93B70FF7CF5","rank":"normal"}]},"sitelinks":{}}}}