eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| somatostatinoma | ||||
| Disease ID | 974 |
|---|---|
| Disease | somatostatinoma |
| Definition | A SOMATOSTATIN-secreting tumor derived from the pancreatic delta cells (SOMATOSTATIN-SECRETING CELLS). It is also found in the INTESTINE. Somatostatinomas are associated with DIABETES MELLITUS; CHOLELITHIASIS; STEATORRHEA; and HYPOCHLORHYDRIA. The majority of somatostatinomas have the potential for METASTASIS. |
| Synonym | delta cell tumor delta cell tumour somatostatin cell tumor somatostatin cell tumour somatostatin producing tumor somatostatin-producing net somatostatin-producing neuroendocrine tumor somatostatin-producing tumor somatostatinoma (disorder) somatostatinoma (morphologic abnormality) somatostatinoma [disease/finding] somatostatinomas tumor of delta cells tumor of the delta cells |
| Orphanet | |
| DOID | |
| UMLS | C0037661 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:6) C0085113 | neurofibromatosis | 2 C0011880 | diabetic ketoacidosis | 1 C0686619 | lymph node metastases | 1 C0494165 | hepatic metastases | 1 C0032461 | polycythemia | 1 C0494165 | liver metastasis | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:15) 116 | ADCYAP1 | 1.273 | DISEASES 796 | CALCA | 3.166 | DISEASES 885 | CCK | 2.471 | DISEASES 54583 | EGLN1 | 1.438 | DISEASES 2520 | GAST | 4.227 | DISEASES 2641 | GCG | 3.474 | DISEASES 4221 | MEN1 | 3.409 | DISEASES 4763 | NF1 | 2.915 | DISEASES 4782 | NFIC | 1.571 | DISEASES 29944 | PNMA3 | 2.47 | DISEASES 5744 | PTHLH | 1.238 | DISEASES 10165 | SLC25A13 | 1.55 | DISEASES 6708 | SPTA1 | 1.178 | DISEASES 6752 | SSTR2 | 1.125 | DISEASES 7432 | VIP | 3.456 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 974 |
|---|---|
| Disease | somatostatinoma |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:35) HP:0002239 | Gastrointestinal hemorrhage HP:0001438 | Abnormality of the abdomen HP:0100833 | Neoplasm of the small intestine HP:0002019 | Constipation HP:0001824 | Weight loss HP:0000845 | Growth hormone excess HP:0005609 | Gallbladder dysfunction HP:0012432 | Chronic fatigue HP:0005214 | Intestinal obstruction HP:0001031 | Subcutaneous lipoma HP:0002014 | Diarrhea HP:0000837 | Increased circulating gonadotropin level HP:0002017 | Nausea and vomiting HP:0012334 | Extrahepatic cholestasis HP:0004840 | Hypochromic microcytic anemia HP:0002574 | Episodic abdominal pain HP:0001541 | Ascites HP:0008200 | Primary hyperparathyroidism HP:0008256 | Adrenocortical adenoma HP:0001406 | Intrahepatic cholestasis HP:0002893 | Pituitary adenoma HP:0002240 | Hepatomegaly HP:0001578 | Hypercortisolism HP:0002865 | Medullary thyroid carcinoma HP:0000820 | Abnormality of the thyroid gland HP:0003072 | Hypercalcemia HP:0002570 | Steatorrhea HP:0004396 | Poor appetite HP:0001046 | Intermittent jaundice HP:0000870 | Prolactin excess HP:0002894 | Neoplasm of the pancreas HP:0000819 | Diabetes mellitus HP:0030145 | Lack of bowel sounds HP:0002039 | Anorexia HP:0002897 | Parathyroid adenoma |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:7) HP:0002664 | Neoplasia | 2 HP:0001067 | Neurofibromas | 2 HP:0001901 | Abnormally shaped erythrocytes | 1 HP:0001081 | Gallstones | 1 HP:0002835 | Aspiration | 1 HP:0001993 | Ketoacidosis | 1 HP:0001953 | Diabetic ketosis | 1 |
| Disease ID | 974 |
|---|---|
| Disease | somatostatinoma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (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) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:16) | ||||
|---|---|---|---|---|
| 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:0100833 | Neoplasm of the small intestine | 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:0000845 | Growth hormone excess | MP:0003497 | insensitivity to parathyroid hormone | no changes in calcium homeostasis in response to endogenous or exogenous hormone |
| 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:0004840 | Hypochromic microcytic anemia | MP:0002810 | microcytic anemia | a reduction in the mean total mass of erythrocytes in which the remaining circulating erythrocyte corpuscular volume is smaller than normal; most commonly due to iron deficiency but also sickle cell disease and other conditions that result in hemoglobin s |
| 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:0002865 | Medullary thyroid carcinoma | MP:0003496 | increased thyroid adenoma incidence | greater than the expected number of a benign epithelial neoplasm with a glandular organization arising in the thyroid gland, occurring in a specific population in a given time period |
| 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:32) | ||||
|---|---|---|---|---|
| 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:0004840 | Hypochromic microcytic anemia | MP:0011101 | prenatal lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5) |
| HP:0002893 | Pituitary adenoma | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0100833 | Neoplasm of the small intestine | MP:0014083 | blunted small intestinal villi | abnormal flattening of the surface of the tiny hair-like projections which protrude from the inside of the small intestine and contain blood vessels that capture digested nutrients that are absorbed through the intestinal wall; usually due to intestinal d |
| 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: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:0002039 | Anorexia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002574 | Episodic abdominal pain | MP:0012504 | increased forebrain apoptosis | increase in the number of cells of the forebrain undergoing programmed cell death |
| 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:0002865 | Medullary thyroid carcinoma | MP:0013006 | abnormal enteric neural crest cell migration | any anomaly in the migratory path or behavior of the neural crest cells (NCCs) that arise predominantly from the vagal (neck) region of the neural tube (vagal neural crest), adjacent to somites 1-7, and migrate rostro-caudally along the gastrointestinal t |
| HP:0005609 | Gallbladder dysfunction | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| 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 |
| Disease ID | 974 |
|---|---|
| Disease | somatostatinoma |
| Case | (Waiting for update.) |