{"orpha":83620,"name":"Enteric anendocrinosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells"],"definition":"A very rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea (requiring parenteral nutrition and disappearing at fasting) due to a lack of intestinal enteroendocrine cells. It is associated with early-onset (within the first weeks of life) dehydration, metabolic acidosis and diabetes mellitus (that can develop until late childhood). Patient may display various degrees of pancreatic insufficiency that does not explain diarrhea, as it is not reduced with pancreatic enzyme supplementation. Central hypogonadism (developing in the second decade), as well as an association with celiac disease have been reported.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-83620/","orphanet_url":"https://www.orpha.net/en/disease/detail/83620","names":{"fr":{"name":"Anendocrinose entérique","synonyms":["Diarrhée malabsorptive congénitale par diminution des cellules endocriniennes entérale"],"definition":"Une maladie génétique gastro-entérologique très rare caractérisée par une diarrhée sévère avec malabsorption (nécessitant une nutrition parentérale et disparaissant lors du jeûne) causée par un déficit en cellules entéro-endocriniennes intestinales. Elle est associée à la survenue précoce (au cours des premières semaines de vie) d'une déshydratation, d'une acidose métabolique et d'un diabète sucré (pouvant se développer jusqu'à la fin de l'enfance). Le patient peut présenter une insuffisance pancréatique de sévérité variable qui ne permet pas d'expliquer la diarrhée, puisque cette dernière n'est pas atténuée par la supplémentation en enzymes pancréatiques. Un hypogonadisme central a été rapporté (se développant au cours de la deuxième décennie), ainsi qu'une maladie coeliaque associée."},"de":{"name":"Anendokrinose, enterische","synonyms":["Diarrhoe, kongenitale malabsorptive, durch Mangel an enteroendokrinen Zellen"],"definition":"Eine sehr seltene genetisch bedingte gastroenterologische Erkrankung, die durch eine schwere malabsorptive Diarrhoe (die eine parenterale Ernährung erfordert und beim Fasten verschwindet) aufgrund eines Mangels an intestinalen enteroendokrinen Zellen gekennzeichnet ist. Sie ist mit früh einsetzender Dehydratation (innerhalb der ersten Lebenswochen), metabolischer Azidose und Diabetes mellitus (der sich bis in die späte Kindheit entwickeln kann) verbunden. Die Patienten können verschiedene Grade der Pankreasinsuffizienz aufweisen, was die Diarrhoe nicht erklärt, da sie durch die Supplementierung von Pankreasenzymen nicht reduziert wird. Zentraler Hypogonadismus (der sich im zweiten Jahrzehnt entwickelt), sowie eine Assoziation mit Zöliakie wurden berichtet."},"es":{"name":"Anendocrinosis entérica","synonyms":["Diarrea congénita con malabsorción por insuficiencia de células enteroendocrinas"],"definition":"Es una enfermedad genética gastroenterológica muy poco frecuente, caracterizada por diarrea malabsortiva grave (requiere nutrición parenteral y desaparece con el ayuno) debida a la falta de células enteroendocrinas intestinales. Se asocia con un inicio temprano (dentro de las primeras semanas de vida) de deshidratación, acidosis metabólica y diabetes mellitus (que puede desarrollarse hasta la infancia tardía). El afectado puede presentar varios grados de insuficiencia pancreática que no explican la diarrea, ya que no se reduce con la suplementación de enzimas pancreáticas. También se ha notificado hipogonadismo central (desarrollándose en la segunda década), así como una asociación con la enfermedad celíaca."},"it":{"name":"Anendocrinosi enterica","definition":"L'anendocrinosi enterica è una malattia rara gastrointestinale di origine genetica, caratterizzata da diarrea grave con malassorbimento (che rende necessaria la nutrizione parenterale e scompare con il digiuno), secondaria all'assenza delle cellule enteroendocrine dell'intestino. Si associa a disidratazione ad esordio precoce (prime settimane di vita), acidosi metabolica e diabete mellito (che può insorgere anche nella tarda infanzia). I pazienti presentano insufficienza pancreatica di grado variabile, che non spiega la diarrea, in quanto non viene controllata con la somministrazione di enzimi pancreatici. Possono associarsi l'ipogonadismo centrale (ad esordio nella seconda decade di vita) e la celiachia."},"nl":{"name":"Enterische anendocrinose","synonyms":["Congenitale malabsorptieve diarree door gebrek aan entero-endocriene cellen"],"definition":"Een zeer zeldzame, genetische, gastro-enterologische ziekte, gekarakteriseerd door ernstige malabsorptieve diarree (die parenterale voeding vereist en verdwijnt bij vasten) als gevolg van een gebrek aan intestinale entero-endocriene cellen. Het is geassocieerd met vroeg aanvangende (binnen de eerste levensweken) dehydratie, metabole acidose en diabetes mellitus (die kan ontwikkelen tot in de late kindertijd). Patiënten vertonen mogelijk verscheidene gradaties van pancreasinsufficiëntie die echter geen verklaring geeft voor de diarree, aangezien deze niet afneemt door suppletie met pancreasenzymen. Centraal hypogonadisme (dat zich ontwikkelt in het tweede levensdecennium), alsook een associatie met coeliakie werden gerapporteerd."},"pt":{"name":"Anendocrinose entérica"},"pl":{"name":"Wrodzona biegunka spowodowana niedoborem komórek enteroendokrynowych","synonyms":["Anedokrynoza jelitowa"]},"cs":{"name":"Vrozený malabsorpční průjem způsobený nedostatkem enteroendokrinních buněk","synonyms":["Enterální anendokrinóza"]},"uk":{"name":"Ентеральний анендокриноз","synonyms":["Вроджена мальабсорбційна діарея через недостатність ентероендокринних клітин"],"definition":"A very rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea (requiring parenteral nutrition and disappearing at fasting) due to a lack of intestinal enteroendocrine cells. It is associated with early-onset (within the first weeks of life) dehydration, metabolic acidosis and diabetes mellitus (that can develop until late childhood). Patient may display various degrees of pancreatic insufficiency that does not explain diarrhea, as it is not reduced with pancreatic enzyme supplementation. Central hypogonadism (developing in the second decade), as well as an association with celiac disease have been reported."},"zh":{"name":"先天性吸收不良性腹泻","synonyms":["肠内分泌细胞缺乏所致先天性吸收不良性腹泻"]},"tr":{"name":"Enterik anendokrinoz","synonyms":["Enteroendokrin hücrelerin azlığına bağlı doğumsal malabsorbtif diyare"]}},"xrefs":[{"source":"OMIM","code":"610370","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"P78.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DA90.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"302560695"},{"source":"MONDO","code":"0012479","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C563673","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1835888","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":104007,"name":"Congenital enteropathy involving intestinal mucosa development","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"NEUROG3","name":"neurogenin 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"16855267[PMID]","hgnc":"13806","ensembl":"ENSG00000122859","omim":"604882","loci":["10q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":7.0,"area":"Worldwide","status":"Validated","source":"24134759[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_24134759[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-08-03","source":null,"terms":[{"hpo":"HP:0001944","label":"Dehydration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004918","label":"Hyperchloremic metabolic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025354","label":"Abnormal cellular phenotype","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002611","label":"Cholestatic liver disease","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001409","label":"Portal hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100651","label":"Type I diabetes mellitus","frequency":"Frequent (79-30%)","criteria":null}]}}