eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| glucagonoma | ||||
| Disease ID | 1212 |
|---|---|
| Disease | glucagonoma |
| Definition | An almost always malignant GLUCAGON-secreting tumor derived from the PANCREATIC ALPHA CELLS. It is characterized by a distinctive migratory ERYTHEMA; WEIGHT LOSS; STOMATITIS; GLOSSITIS; DIABETES MELLITUS; hypoaminoacidemia; and normochromic normocytic ANEMIA. |
| Synonym | [m]glucagonoma nos [m]glucagonoma nos (morphologic abnormality) adenoma, alpha cell adenoma, alpha-cell adenomas, alpha-cell alpha cell adenoma alpha cell tumor alpha cell tumor of pancreas alpha cell tumor of the pancreas alpha cell tumour alpha-cell adenoma alpha-cell adenomas alpha-cell tumor alpha-cell tumors glucagon-producing islet cell tumor glucagon-producing tumor of islet cells glucagon-producing tumor of the islet cells glucagonoma (disorder) glucagonoma (morphologic abnormality) glucagonoma -retired- glucagonoma [disease/finding] glucagonoma syndrome glucagonoma syndrome (disorder) glucagonoma syndrome, nos glucagonoma syndromes glucagonoma, nos glucagonomas islet cell glucagonoma pancreas, islet-cell tumor, glucagon-producing pancreatic alpha cell tumor pancreatic glucagon producing net pancreatic glucagon producing neuroendocrine tumor pancreatic glucagon producing tumor pancreatic glucagon-producing neuroendocrine tumor pancreatic glucagonoma syndrome, glucagonoma syndromes, glucagonoma tumor, alpha-cell tumors, alpha-cell |
| Orphanet | |
| UMLS | C0017689 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:16) C0011603 | dermatitis | 2 C0494165 | liver metastases | 1 C0011993 | vipoma | 1 C0025267 | multiple endocrine neoplasia type 1 | 1 C0026846 | muscle wasting | 1 C0027662 | multiple endocrine neoplasia | 1 C0011849 | diabetes mellitus | 1 C0020437 | hypercalcemia | 1 C0878544 | cardiomyopathy | 1 C0002871 | anemia | 1 C0023890 | cirrhosis | 1 C0011847 | diabetes | 1 C0020502 | hyperparathyroidism | 1 C0015230 | rash | 1 C0011860 | type 2 diabetes | 1 C0221002 | primary hyperparathyroidism | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1212 |
|---|---|
| Disease | glucagonoma |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:41) HP:0002239 | Gastrointestinal hemorrhage HP:0001438 | Abnormality of the abdomen HP:0002019 | Constipation HP:0001824 | Weight loss HP:0000845 | Growth hormone excess HP:0012432 | Chronic fatigue HP:0005214 | Intestinal obstruction HP:0001031 | Subcutaneous lipoma HP:0010280 | Stomatitis HP:0002014 | Diarrhea HP:0000837 | Increased circulating gonadotropin level HP:0002017 | Nausea and vomiting HP:0000206 | Glossitis HP:0001895 | Normochromic anemia HP:0012334 | Extrahepatic cholestasis HP:0002574 | Episodic abdominal pain HP:0008200 | Primary hyperparathyroidism HP:0001541 | Ascites HP:0008066 | Abnormal blistering of the skin HP:0008256 | Adrenocortical adenoma HP:0001406 | Intrahepatic cholestasis HP:0002893 | Pituitary adenoma HP:0002240 | Hepatomegaly HP:0001578 | Hypercortisolism HP:0000820 | Abnormality of the thyroid gland HP:0000988 | Skin rash HP:0001927 | Acanthocytosis HP:0004396 | Poor appetite HP:0002570 | Steatorrhea HP:0003072 | Hypercalcemia HP:0001046 | Intermittent jaundice HP:0000870 | Prolactin excess HP:0002894 | Neoplasm of the pancreas HP:0000819 | Diabetes mellitus HP:0000716 | Depression HP:0030145 | Lack of bowel sounds HP:0000989 | Pruritus HP:0030895 | Abnormal gastrointestinal motility HP:0001907 | Thromboembolism HP:0002039 | Anorexia HP:0002897 | Parathyroid adenoma |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:12) HP:0010783 | Erythema | 6 HP:0005213 | Pancreatic calcifications | 1 HP:0008200 | Primary hyperparathyroidism | 1 HP:0000819 | Diabetes mellitus | 1 HP:0001638 | Cardiomyopathy | 1 HP:0030404 | Glucagonoma | 1 HP:0003202 | Neurogenic muscle atrophy, especially in the lower limbs | 1 HP:0001903 | Anemia | 1 HP:0001394 | Hepatic cirrhosis | 1 HP:0003074 | High blood glucose | 1 HP:0003072 | Hypercalcemia | 1 HP:0000843 | Hyperparathyroidism | 1 |
| Disease ID | 1212 |
|---|---|
| Disease | glucagonoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:8) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:15) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002897 | Parathyroid adenoma | MP:0013383 | increased sebaceous gland adenoma incidence | greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in any sebaceous gland, occurring in a specific population in a given time period |
| HP:0000845 | Growth hormone excess | MP:0003497 | insensitivity to parathyroid hormone | no changes in calcium homeostasis in response to endogenous or exogenous hormone |
| HP:0001895 | Normochromic anemia | MP:0001585 | hemolytic anemia | deficiency of red cells resulting from an increased rate of erythrocyte destruction |
| HP:0002893 | Pituitary adenoma | MP:0013383 | increased sebaceous gland adenoma incidence | greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in any sebaceous gland, occurring in a specific population in a given time period |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0012305 | umbilical cord hemorrhage | bleeding into or from the umbilical cord |
| HP:0000837 | Increased circulating gonadotropin level | MP:0011533 | increased urine major urinary protein level | increased amount in the urine of a family of alpha2-microglobulin-related liver secretory proteins that comprise a major protein component of mouse urine |
| HP:0008066 | Abnormal blistering of the skin | MP:0009536 | abnormal interstitial cell of Cajal morphology | any structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which |
| HP:0008256 | Adrenocortical adenoma | MP:0013383 | increased sebaceous gland adenoma incidence | greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in any sebaceous gland, occurring in a specific population in a given time period |
| HP:0000820 | Abnormality of the thyroid gland | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0001406 | Intrahepatic cholestasis | MP:0005415 | intrahepatic cholestasis | impairment of bile flow due to injury to the hepatocytes, bile canaliculi, or the intrahepatic bile ducts |
| HP:0005214 | Intestinal obstruction | MP:0003587 | ureter obstruction | a partial or total blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder; may be congenital, acquired, unilateral, bilateral, acute or chronic |
| HP:0002017 | Nausea and vomiting | MP:0010426 | abnormal heart and great artery attachment | any anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta |
| HP:0002894 | Neoplasm of the pancreas | MP:0008261 | arrest of male meiosis | cessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell |
| HP:0001438 | Abnormality of the abdomen | MP:0008261 | arrest of male meiosis | cessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell |
| HP:0001824 | Weight loss | MP:0005114 | premature hair loss | release of fur at an earlier than expected time |
Mapped by homologous gene(Total Items:37) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001578 | Hypercortisolism | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0004396 | Poor appetite | MP:0013467 | diaphragmitis | inflammation of the diaphragm |
| HP:0000845 | Growth hormone excess | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0000837 | Increased circulating gonadotropin level | MP:0014193 | decreased epididymal cell proliferation | decrease in the expansion rate of any epididymal cell population by cell division |
| HP:0001046 | Intermittent jaundice | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| HP:0002893 | Pituitary adenoma | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0002570 | Steatorrhea | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000820 | Abnormality of the thyroid gland | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001907 | Thromboembolism | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0001031 | Subcutaneous lipoma | MP:0014171 | increased fatty acid oxidation | increased rate or incidence of the process of removal of one or more electrons from a fatty acid, with or without the concomitant removal of a proton or protons, by reaction with an electron-accepting substance, by addition of oxygen or by removal of hydr |
| HP:0003072 | Hypercalcemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000819 | Diabetes mellitus | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002897 | Parathyroid adenoma | MP:0013602 | abnormal Leydig cell differentiation | atypical formation of or inability to produce the interstitial cells that are found adjacent to the seminiferous tubules in the testicle and produce testosterone in the presence of luteinizing hormone; in most mammals, normal Leydig cell (LC) development |
| HP:0002239 | Gastrointestinal hemorrhage | MP:0020215 | impaired blood coagulation | impaired ability of the blood to clot |
| HP:0002017 | Nausea and vomiting | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001541 | Ascites | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002014 | Diarrhea | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0008066 | Abnormal blistering of the skin | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0002039 | Anorexia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000206 | Glossitis | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0002574 | Episodic abdominal pain | MP:0012504 | increased forebrain apoptosis | increase in the number of cells of the forebrain undergoing programmed cell death |
| HP:0001895 | Normochromic anemia | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0002894 | Neoplasm of the pancreas | MP:0014126 | increased mammary gland apoptosis | increase in the number of any cells of a mammary gland undergoing programmed cell death |
| HP:0005214 | Intestinal obstruction | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0008200 | Primary hyperparathyroidism | MP:0013572 | abnormal parathyroid gland chief cell morphology | any structural anomaly of an epithelial cell that are collectively arranged in wide, irregular interconnecting columns in the parathyroid gland, that is responsible for the synthesis and secretion of parathyroid hormone (PTH) |
| HP:0001406 | Intrahepatic cholestasis | MP:0020134 | abnormal gallbladder size | an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile |
| HP:0001824 | Weight loss | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0000870 | Prolactin excess | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0010280 | Stomatitis | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0000716 | Depression | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000989 | Pruritus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001927 | Acanthocytosis | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0002019 | Constipation | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0008256 | Adrenocortical adenoma | MP:0013602 | abnormal Leydig cell differentiation | atypical formation of or inability to produce the interstitial cells that are found adjacent to the seminiferous tubules in the testicle and produce testosterone in the presence of luteinizing hormone; in most mammals, normal Leydig cell (LC) development |
| HP:0001438 | Abnormality of the abdomen | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000988 | Skin rash | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| Disease ID | 1212 |
|---|---|
| Disease | glucagonoma |
| Case | (Waiting for update.) |