{"orpha":556955,"name":"Pancreatic agenesis-holoprosencephaly syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of pancreatic agenesis and lobar/semilobar holoprosencephaly. Insulin-dependent diabetes mellitus and pancreatic exocrine deficiency manifest early after birth. Additional reported manifestations include intrauterine growth retardation, muscle weakness, seizures, mild intellectual disability and dysmorphic craniofacial features, and agenesis of the gallbladder.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-556955/","orphanet_url":"https://www.orpha.net/en/disease/detail/556955","names":{"fr":{"name":"Syndrome d'agénésie du pancréas-holoprosencéphalie","definition":"Anomalies congénitales multiples/syndrome dysmorphique rare d'origine génétique caractérisé par l'association d'une agénésie pancréatique et d'une holoprosencéphalie lobaire/semilobaire. Le diabète sucré insulinodépendant et le déficit des sécrétions exocrines pancréatiques apparaissent tôt après la naissance. Les autres signes cliniques rapportés incluent un retard de croissance intra-utérin, une faiblesse musculaire, des crises convulsives, une déficience intellectuelle légère, une dysmorphie cranio-faciale et une agénésie de la vésicule biliaire."},"de":{"name":"Pankreasagenesie-Holoprosenzephalie-Syndrom","definition":"Ein genetisch bedingtes Dysmorphie-Syndrom, das durch die Assoziation von Pankreas-Agenesie und lobarer/semilobarer Holoprosencephalie gekennzeichnet ist. Insulinabhängiger Diabetes mellitus und exokriner Pankreasmangel manifestieren sich früh nach der Geburt. Zu den weiteren berichteten Manifestationen gehören intrauterine Wachstumsverzögerung, Muskelschwäche, Krampfanfälle, leichte Intelligenzminderung und dysmorphe kraniofaziale Merkmale sowie eine Agenesie der Gallenblase."},"es":{"name":"Síndrome de agenesia pancreática-holoprosencefalia","definition":"Es un síndrome dismórfico / de múltiples anomalías congénitas genético y poco frecuente caracterizado por la asociación de agenesia pancreática y holoprosencefalia lobar/semilobar. La diabetes mellitus insulinodependiente y la deficiencia exocrina pancreática se manifiestan poco después del nacimiento. Otras manifestaciones adicionales descritas incluyen retraso del crecimiento intrauterino, debilidad muscular, crisis, discapacidad intelectual leve y características craneofaciales dismórficas, así como agenesia de la vesícula biliar."},"it":{"name":"Sindrome agenesia del pancreas - oloprosencefalia","definition":"Si tratta di una malattia genetica rara da anomalie/dismorfismi congeniti multipli, caratterizzata da agenesia del pancreas e oloprosencefalia lobare/semilobare. Il diabete mellito insulino-dipendente e il deficit del pancreas esocrino si manifestano subito dopo la nascita. Altri segni clinici sono il ritardo della crescita prenatale, la debolezza muscolare, le crisi epilettiche, la lieve disabilità intellettiva, i dismorfismi craniofacciali e l'agenesia della cistifellea."},"nl":{"name":"Agenesie van pancreas - holoprosencefalie-syndroom","definition":"Een zeldzaam, genetisch multipele congenitale anomalieën/dysmorfie-syndroom, gekarakteriseerd door de associatie van agenesie van pancreas en lobaire/semilobaire holoprosencefalie. Insulineafhankelijke diabetes mellitus en deficiëntie van exocriene pancreas manifesteren zich al vroeg na de geboorte. Bijkomend gerapporteerde manifestaties zijn onder meer intra-uteriene groeiretardatie, spierzwakte, insulten, milde intellectuele beperking, dysmorfe craniofaciale kenmerken, en agenesie van galblaas."},"pt":{"name":"Síndrome de agenésia pancreática-holoprosencefalia"},"pl":{"name":"Zespół agenezji trzustki i holoprozencefalii"},"cs":{"name":"Syndrom ageneze pankreatu a holoprosencefalie"},"uk":{"name":"Синдром панкреатичної агенезії-голопрозенцефалії","definition":"A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of pancreatic agenesis and lobar/semilobar holoprosencephaly. Insulin-dependent diabetes mellitus and pancreatic exocrine deficiency manifest early after birth. Additional reported manifestations include intrauterine growth retardation, muscle weakness, seizures, mild intellectual disability and dysmorphic craniofacial features, and agenesis of the gallbladder."},"zh":{"name":"胰腺发育不全-全前脑无裂综合征","definition":"一种罕见的遗传性多发性先天性异常/畸形综合征，其特点是伴有胰腺发育不全和全叶/半叶前脑无裂畸形。出生后早期即表现为胰岛素依赖性糖尿病和胰腺外分泌不足。其他报道的表现包括宫内生长迟缓、肌无力、癫痫发作、轻度智力障碍和颅面畸形，以及胆囊发育不全。"},"tr":{"name":"Pankreas agenezi-holoprozensefali sendromu"}},"xrefs":[{"source":"OMIM","code":"618500","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0034142","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681334","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":269564,"name":"Genetic syndrome with a central nervous system malformation as a major feature","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":269531,"name":"Other syndrome with a central nervous system malformation as a major feature","classifications":[147,181]},{"orpha":108973,"name":"Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen","classifications":[147,156,182]}],"children":[],"genes":[{"symbol":"CNOT1","name":"CCR4-NOT transcription complex subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31006513[PMID]","hgnc":"7877","ensembl":"ENSG00000125107","omim":"604917","loci":["16q21"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Antenatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"31006513[PMID]_28525974[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_31006513[PMID]_28525974[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-06-16","source":"28525974[PMID]_28525974[PMID]","terms":[{"hpo":"HP:0012443","label":"Abnormality of brain morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011467","label":"Absent gallbladder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031209","label":"Decreased lipoprotein lipase activity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001360","label":"Holoprosencephaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410289","label":"Hypoamylasemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000857","label":"Neonatal insulin-dependent diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100801","label":"Pancreatic aplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030795","label":"Reduced C-peptide level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010938","label":"Abnormal external nose morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009658","label":"Aplasia/Hypoplasia of the phalanges of the thumb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010669","label":"Hypoplasia of the zygomatic bone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000601","label":"Hypotelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012418","label":"Hypoxemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000269","label":"Prominent occiput","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002507","label":"Semilobar holoprosencephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006315","label":"Single median maxillary incisor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000340","label":"Sloping forehead","frequency":"Occasional (29-5%)","criteria":null}]}}