{"orpha":276608,"name":"Non-insulinoma pancreatogenous hypoglycemia syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["NIPHS"],"definition":"A rare familial hyperinsulinism characterized by postprandial hyperinsulinemic hypoglycemia, negative 72-hour fasts, negative preoperative localization studies for insulinoma, and positive selective arterial calcium infusion tests. Histopathological analysis reveals diffuse islet hyperplasia with increased number and size of islet cells.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-276608/","orphanet_url":"https://www.orpha.net/en/disease/detail/276608","names":{"fr":{"name":"Syndrome d'hypoglycémie pancréatogène sans insulinome","synonyms":["Hypoglycémie d'origine pancréatique non liée à un insulinome","NIPHS"],"definition":"Hyperinsulinisme familial rare caractérisé par une hypoglycémie hyperinsulinémique post-prandiale, un test de jeûne de 72 heures négatif, un examen de localisation préopératoire de l'insulinome négatif et un test de stimulation artérielle sélective par le calcium positif. L'analyse histopathologique révèle une hyperplasie diffuse des îlots de Langerhans avec une augmentation du nombre et de la taille des cellules des îlots."},"de":{"name":"Non-Insulinoma pankreatogenes Hypoglykämie-Syndrom","synonyms":["NIPHS"],"definition":"Eine seltene familiäre Hyperinsulinämie, die durch postprandiale hyperinsulinämische Hypoglykämie, negative 72-Stunden-Fastenwerte, negative präoperative Lokalisierungsuntersuchungen auf Insulinom und positive selektive arterielle Kalziuminfusionstests gekennzeichnet ist. Die histopathologische Analyse zeigt eine diffuse Inselhyperplasie mit erhöhter Anzahl und Größe der Inselzellen."},"es":{"name":"Síndrome de hipoglucemia pancreatógena no insulinoma","synonyms":["NIPHS"],"definition":"Es un hiperinsulinismo familiar poco frecuente caracterizado por hipoglucemia hiperinsulinémica posprandial, test de ayuno de 72 h negativo, estudios de localización preoperatoria negativos para el insulinoma y pruebas positivas en el test de estimulación intraarterial selectiva con calcio. El análisis histopatológico revela hiperplasia difusa de los islotes con incremento del número y tamaño de células de los islotes."},"it":{"name":"Ipoglicemia iperinsulinemica persistente non-insulinoma a esordio nell'età adulta","synonyms":["NI-PHH"]},"nl":{"name":"Niet-insulinoom pancreatogeen hypoglycemisch syndroom","synonyms":["NIPHS"],"definition":"Een zeldzaam familiaal hyperinsulinisme, gekenmerkt door postprandiale hyperinsulinemische hypoglycemie, negatieve 72-uur vasten, negatieve preoperatieve lokalisatiestudies voor insulinoom, en positieve selectieve arteriële calciuminfusietesten. Histopathologische analyse toont diffuse hyperplasie van eilandjes, met toename van het aantal en de omvang van eilandcellen."},"pt":{"name":"Síndrome de hipoglicemia pancreatogénica não insulinoma","definition":"Hiperinsulinismo familiar raro caracterizado por hipoglicemia hiperinsulinémica pós-prandial, jejuns negativos de 72 horas, estudos de localização pré-operatórios negativos para insulinoma e testes de infusão arterial seletiva de cálcio positivos. A análise histopatológica revela hiperplasia difusa das ilhotas com aumento do número e tamanho das células das ilhotas."},"pl":{"name":"Przetrwała hipoglikemia hiperinsulinowa nie związana z insulinomą o początku w wieku dorosłym","synonyms":["NI-PHH"],"definition":"Rzadki rodzinny hiperinsulinizm charakteryzujący się poposiłkową hipoglikemią hiperinsulinemiczną, ujemnymi wynikami 72-godzinnych postów, ujemnymi przedoperacyjnymi badaniami lokalizacji insulinoma i dodatnimi wynikami testów selektywnego dotętniczego wlewu wapnia. W analizie histopatologicznej widoczny jest rozlany rozrost wysp ze zwiększeniem ich liczby i rozmiaru."},"cs":{"name":"Neinzulinomová perzistentní hyperinzulinemická hypoglykémie začínající v dospělosti","synonyms":["NI-PHH"]},"uk":{"name":"Синдром панкреатогенної гіпоглікемії без інсуліноми","synonyms":["NIPHS"],"definition":"A rare familial hyperinsulinism characterized by postprandial hyperinsulinemic hypoglycemia, negative 72-hour fasts, negative preoperative localization studies for insulinoma, and positive selective arterial calcium infusion tests. Histopathological analysis reveals diffuse islet hyperplasia with increased number and size of islet cells."},"zh":{"name":"非胰岛素瘤性胰源性低血糖综合征","synonyms":["NIPHS"]},"tr":{"name":"İnsülinoma dışı pankreatojen hipoglisemi sendromu","synonyms":["NIPHS"]}},"xrefs":[{"source":"ICD-10","code":"E16.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A4Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017189","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17189","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274082","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":276525,"name":"Familial hyperinsulinism","classifications":[156,193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-02-08","source":"2294697[PMID]_9724169[PMID]_11114627[PMID]_11387003[PMID]_17263973[PMID]_7235948[PMID]_10323384[PMID]_15581742[PMID]_18208578[PMID]_9435328[PMID]","terms":[{"hpo":"HP:0001259","label":"Coma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003162","label":"Fasting hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003324","label":"Generalized muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000825","label":"Hyperinsulinemic hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001985","label":"Hypoketotic hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004324","label":"Increased body weight","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004510","label":"Pancreatic islet-cell hyperplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002344","label":"Progressive neurologic deterioration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001649","label":"Tachycardia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000842","label":"Hyperinsulinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012051","label":"Reactive hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000713","label":"Agitation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002329","label":"Drowsiness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null}]}}