{"Name":"GCGR-related hyperglucagonemia","DiseaseID__c":"GARD:0010460","id":10460,"encodedName":"gcgr-related-hyperglucagonemia","IsDeleted":false,"Disease_Name_Full__c":"GCGR-related hyperglucagonemia","Xref_IDs__c":"1228875006; C157461; C4763635; DOID:0112306; MEDGEN:1677024; MONDO:0018582; OMIM:619290; ORPHA:438274","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018582","Disease_Description__c":"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.","GARD_Name__c":"GCGR-related hyperglucagonemia","GARD_Synonym__c":"alpha-cell hyperplasia with glucagonemia; glucagon receptor-related hyperglucagonemia; mahvash disease; mvah; nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumor; nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumour; nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor; nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumour","Curated_Disease_Description_Source__c":"MONDO:0018582","Curated_Disease_Description__c":"A rare tumor of pancreas caused by mutations in the GCGR 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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:438274","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018582","ORPHANET_ID__c":"ORPHA:438274","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hiperglucagonemia asociada a gcgr","Spanish_Description_Source__c":"ORPHA:438274","Spanish_Description__c":"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.","Spanish_Disease_Name__c":"hiperglucagonemia asociada a gcgr","Spanish_GARD_Synonym__c":"enfermedad de mahwash","Category_Linearization__c":"ORPHA:165711","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A rare tumor of pancreas caused by mutations in the GCGR 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.","Curated_Disease_Description_Source__c":"MONDO:0018582","GARD_Synonym__c":"alpha-cell hyperplasia with glucagonemia; glucagon receptor-related hyperglucagonemia; mahvash disease; mvah; nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumor; nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumour; nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor; nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumour","Name":"GCGR-related hyperglucagonemia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Pancreatic tumor","Tag_Category__c":"Account","curated_tag_name":"Pancreatic tumors"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:438274"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010460","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1677024","Source__c":"C4763635","Xref__c":"MEDGEN:1677024"},{"URL__c":"https://www.orpha.net/en/disease/detail/438274","Source__c":"C4763635; MONDO:0018582; ORPHA:438274","Xref__c":"ORPHA:438274"},{"URL__c":"https://www.omim.org/entry/619290","Source__c":"C4763635; MONDO:0018582; ORPHA:438274","Xref__c":"OMIM:619290"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112306","Source__c":"MONDO:0018582","Xref__c":"DOID:0112306"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4763635","Source__c":"C4763635","Xref__c":"C4763635"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1228875006","Source__c":"C4763635","Xref__c":"1228875006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018582","Source__c":"GARD:0010460","Xref__c":"MONDO:0018582"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C157461","Source__c":"C4763635","Xref__c":"C157461"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GCGR","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:438274","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Acral or periorificial lesions that evolve in recurrent crops, with an annular and migratory distribution.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031181","HPO_Name__c":"Necrolytic migratory erythema","Feature_System__c":"Skin System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:438274","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A structural abnormality of the biliary tree.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012440","HPO_Synonym__c":"Anomaly of the biliary tract","HPO_Name__c":"Abnormal biliary tract morphology","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:438274","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Stomatitis is an inflammation of the mucous membranes of any of the structures in the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010280","HPO_Synonym__c":"Inflammation of the mouth","HPO_Name__c":"Stomatitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:438274","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"A condition in which there is increased production of gastrin by a gastrin-secreting tumor (usually located in the pancreas, duodenum, or abdominal lymph nodes) that stimulates the gastric mucosa to maximal activity, with consequent gastrointestinal mucosal ulceration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002044","HPO_Name__c":"Zollinger-Ellison syndrome","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:438274","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"A group of abnormalities characterized by hyperglycemia and glucose intolerance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000819","HPO_Name__c":"Diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:438274","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002027","HPO_Synonym__c":"Abdominal pain; Pain in stomach; Stomach pain","HPO_Name__c":"Abdominal pain","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:438274","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An endocrine tumor of the pancreas that secretes excessive amounts of glucagon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030404","HPO_Name__c":"Glucagonoma","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:438274","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"An elevated concentration of glucagon in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030688","HPO_Name__c":"Increased glucagon level","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:438274","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hard, pebble-like deposits that form within the gallbladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001081","HPO_Synonym__c":"Gallstones","HPO_Name__c":"Cholelithiasis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:438274","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A tumor (abnormal growth of tissue) of the pancreas.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002894","HPO_Synonym__c":"Neoplasia of the pancreas; Pancreatic tumor","HPO_Name__c":"Neoplasm of the pancreas","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Gastroenterology"],"Disease Category":["Cancer","Gastroenterology"],"Account":["Pancreatic tumor"]},"synonyms":["alpha-cell hyperplasia with glucagonemia"," glucagon receptor-related hyperglucagonemia"," mahvash disease"," mvah"," nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumor"," nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumour"," nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor"," nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumour"]}