{"orpha":438274,"name":"GCGR-related hyperglucagonemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Mahvash disease"],"definition":"A rare tumor of pancreas caused by mutations in the <i>GCGR</i> gene characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and markedly increased serum glucagon levels in the absence of a glucagonoma syndrome. Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea, and diabetes mellitus.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-438274/","orphanet_url":"https://www.orpha.net/en/disease/detail/438274","names":{"fr":{"name":"Hyperglucagonémie associée à GCGR","synonyms":["Maladie de Mahvash"],"definition":"Tumeur rare du pancréas due à des mutations du gène <i>GCGR</i> caractérisée par une hyperplasie des cellules alpha pancréatiques, des tumeurs neuroendocrines pancréatiques et des taux sériques de glucagon considérablement élevés, en l'absence de glucagonome. Les manifestations cliniques peuvent inclure des douleurs abdominales, une pancréatite, une fatigue, des diarrhées et un diabète sucré."},"de":{"name":"GCGR-abhängige Hyperglucagonämie","synonyms":["Mahvash-Krankheit"],"definition":"Ein seltener Tumor der Bauchspeicheldrüse, der durch Mutationen im <i>GCGR</i>-Gen verursacht wird und durch eine Hyperplasie der Alphazellen der Bauchspeicheldrüse, neuroendokrine Tumoren der Bauchspeicheldrüse und deutlich erhöhte Serumglukagonwerte bei Fehlen eines Glukagonomsyndroms gekennzeichnet ist. Zu den klinischen Manifestationen können Bauchschmerzen, Pankreatitis, Müdigkeit, Durchfall und Diabetes mellitus gehören."},"es":{"name":"Hiperglucagonemia asociada a GCGR","synonyms":["Enfermedad de Mahwash"],"definition":"Es un tumor de páncreas poco frecuente causado por mutaciones en el gen <i>GCGR</i> caracterizado por hiperplasia de las células alfa pancreáticas, tumores neuroendocrinos pancreáticos y niveles séricos de glucagón notablemente incrementados en ausencia de un síndrome por glucagonoma. Las manifestaciones clínicas pueden incluir dolor abdominal, pancreatitis, fatiga, diarrea y diabetes mellitus."},"it":{"name":"Iperglucagonemia correlata a GCGR","synonyms":["Malattia di Mahvash"],"definition":"È una neoplasia rara del pancreas causata da mutazioni nel gene GCGR, caratterizzata da iperplasia delle cellule alfa del pancreas, tumori pancreatici neuroendocrini e livelli molto elevati di glucagone nel siero, in assenza di sindrome da glucagonoma. I segni clinici comprendono il dolore addominale, la pancreatite, l'affaticamento, la diarrea e il diabete mellito."},"nl":{"name":"GCGR-gerelateerde hyperglucagonemie","synonyms":["Ziekte van Mahvash"],"definition":"Een zeldzame tumor van pancreas, veroorzaakt door mutaties in het gen <i>GCGR</i>, en gekarakteriseerd door hyperplasie van alfacellen van de pancreas, pancreatische neuro-endocriene tumoren en aanzienlijk verhoogde glucagongehaltes in serum, in afwezigheid van een glucagonoom-syndroom. Mogelijke klinische manifestaties zijn onder meer abdominale pijn, pancreatitis, vermoeidheid, diarree, en diabetes mellitus."},"pt":{"name":"Hiperglucagonemia GCGR-relacionada"},"pl":{"name":"Hiperglukagonemia zależna od GCGR","synonyms":["Choroba Mahvasha"]},"cs":{"name":"GCGR-vázaná hyperglukagonémie","synonyms":["Mahvashina choroba"]},"uk":{"name":"Гіперглюкагонемія, повязана з GCGR","synonyms":["Хвороба Махваш"],"definition":"A rare tumor of pancreas caused by mutations in the <i>GCGR</i> gene characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and markedly increased serum glucagon levels in the absence of a glucagonoma syndrome. Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea, and diabetes mellitus."},"zh":{"name":"GCGR相关高胰高血糖素血症","synonyms":["马赫瓦什综合征"],"definition":"一种由 GCGR 基因突变引起的罕见胰腺肿瘤，其特征为胰腺α细胞增生，胰腺神经内分泌肿瘤，并且在不合并胰高血糖素综合征的血清胰高血糖素水平显着升高。临床表现可能包括腹痛，胰腺炎，疲劳，腹泻和糖尿病。"},"tr":{"name":"GCGR-ilişkili hiperglukagonemi","synonyms":["Mahvash hastalığı"]}},"xrefs":[{"source":"OMIM","code":"619290","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E16.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A42","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0018582","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4763635","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10460","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":165711,"name":"Rare abdominal surgical disease"},"parents":[{"orpha":165711,"name":"Rare abdominal surgical disease","classifications":[182]},{"orpha":180824,"name":"Rare tumor of pancreas","classifications":[152,202]}],"children":[],"genes":[{"symbol":"GCGR","name":"glucagon receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"19657311[PMID]_25914784[PMID]","hgnc":"4192","ensembl":"ENSG00000215644","omim":"138033","loci":["17q25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":8.0,"area":"Worldwide","status":"Validated","source":"25914784[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_25914784[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2018-02-14","source":"25914784[PMID]","terms":[{"hpo":"HP:0030688","label":"Increased glucagon level","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012440","label":"Abnormal biliary tract morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001081","label":"Cholelithiasis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030404","label":"Glucagonoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002894","label":"Neoplasm of the pancreas","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0031181","label":"Necrolytic migratory erythema","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0010280","label":"Stomatitis","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0002044","label":"Zollinger-Ellison syndrome","frequency":"Excluded (0%)","criteria":null}]}}