eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| multiple endocrine neoplasia type 1 | ||||
| Disease ID | 86 |
|---|---|
| Disease | multiple endocrine neoplasia type 1 |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:38) C2697380 | parathyroid carcinoma C2678504 | osteoporosis C1859308 | premature centromere division C1336746 | thymic carcinoid C1334680 | mediastinal seminoma C1328479 | pancreatic neuroendocrine carcinoma C1266094 | type b1 thymoma C0796095 | c syndrome C0346304 | gonadotroph adenoma C0346255 | renal oncocytoma C0271844 | parathyroid hyperplasia C0265978 | collagenomas C0242363 | pancreatic endocrine tumor C0242363 | islet cell tumors C0242363 | islet cell tumor C0238198 | gastrointestinal stromal tumour C0221002 | primary hyperparathyroidism C0206754 | neuroendocrine tumors C0206754 | neuroendocrine tumor C0206696 | signet-ring cell carcinoma C0162832 | familial adenomatous polyposis C0043515 | zollinger-ellison syndrome C0036161 | o variant C0032002 | pituitary disease C0032000 | pituitary adenomas C0030286 | pancreatic disease C0025202 | malignant melanoma C0021670 | insulinomas C0021670 | insulinoma C0020502 | hyperparathyroidism C0017689 | glucagonoma C0017150 | gastrinomas C0017150 | gastrinoma C0014474 | ependymoma C0014132 | endocrine tumor C0013289 | duodenal disease C0007095 | carcinoids C0001430 | adenoma |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:15) C0020502 | hyperparathyroidism | 13 C0014132 | endocrine tumor | 9 C0221002 | primary hyperparathyroidism | 6 C0206754 | neuroendocrine tumor | 4 C0021670 | insulinoma | 3 C1336746 | thymic carcinoid | 3 C0242363 | pancreatic endocrine tumor | 2 C0021670 | insulinomas | 2 C0017150 | gastrinoma | 2 C0017689 | glucagonoma | 1 C0271844 | parathyroid hyperplasia | 1 C0280089 | pulmonary carcinoid tumor | 1 C0206754 | neuroendocrine tumors | 1 C0687150 | parathyroid carcinoma | 1 C0014474 | ependymoma | 1 |
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:31) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894256 | NA | 4221 | MEN1 | umls:C0025267 | CLINVAR | NA | 0.687063012 | NA | MEN1 | 11 | 64810045 | A | C |
| rs104894258 | NA | 4221 | MEN1 | umls:C0025267 | CLINVAR | NA | 0.687063012 | NA | MEN1 | 11 | 64807952 | C | T |
| rs104894259 | NA | 4221 | MEN1 | umls:C0025267 | CLINVAR | NA | 0.687063012 | NA | MEN1;MAP4K2 | 11 | 64805078 | A | T,G |
| rs104894260 | NA | 4221 | MEN1 | umls:C0025267 | CLINVAR | NA | 0.687063012 | NA | MEN1;MAP4K2 | 11 | 64805077 | C | T |
| rs104894261 | NA | 4221 | MEN1 | umls:C0025267 | CLINVAR | NA | 0.687063012 | NA | MEN1;MAP4K2 | 11 | 64804588 | G | A |
| rs104894263 | NA | 4221 | MEN1 | umls:C0025267 | CLINVAR | NA | 0.687063012 | NA | MEN1 | 11 | 64809695 | G | C |
| rs104894264 | NA | 4221 | MEN1 | umls:C0025267 | CLINVAR | NA | 0.687063012 | NA | MEN1;MAP4K2 | 11 | 64805132 | C | T,G |
| rs104894265 | NA | 4221 | MEN1 | umls:C0025267 | CLINVAR | NA | 0.687063012 | NA | MEN1 | 11 | 64805758 | G | T |
| rs104894266 | NA | 4221 | MEN1 | umls:C0025267 | CLINVAR | NA | 0.687063012 | NA | MEN1 | 11 | 64807557 | G | A |
| rs104894267 | NA | 4221 | MEN1 | umls:C0025267 | CLINVAR | NA | 0.687063012 | NA | MEN1;MAP4K2 | 11 | 64804789 | G | A |
| rs2071312 | 12112656 | 4221 | MEN1 | umls:C0025267 | UNIPROT | Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein. | 0.687063012 | 2002 | MEN1 | 11 | 64806272 | C | T |
| rs28931612 | 9241276 | 4221 | MEN1 | umls:C0025267 | UNIPROT | Thus, somatic MEN1 gene mutation contributes to tumorigenesis in a substantial number of parathyroid tumours not associated with the MEN1 syndrome. | 0.687063012 | 1997 | MEN1 | 11 | 64810034 | C | T,A |
| rs386134245 | NA | 4221 | MEN1 | umls:C0025267 | CLINVAR | NA | 0.687063012 | NA | MEN1 | 11 | 64806267 | - | A |
| rs386134246 | NA | 4221 | MEN1 | umls:C0025267 | CLINVAR | NA | 0.687063012 | NA | MEN1 | 11 | 64805757 | G | - |
| rs386134247 | NA | 4221 | MEN1 | umls:C0025267 | CLINVAR | NA | 0.687063012 | NA | MEN1 | 11 | 64805645 | - | C |
| rs386134248 | NA | 4221 | MEN1 | umls:C0025267 | CLINVAR | NA | 0.687063012 | NA | MEN1 | 11 | 64809986 | CCAGCA | - |
| rs386134249 | NA | 4221 | MEN1 | umls:C0025267 | CLINVAR | NA | 0.687063012 | NA | MEN1;MAP4K2 | 11 | 64805122 | C | T |
| rs386134250 | NA | 4221 | MEN1 | umls:C0025267 | CLINVAR | NA | 0.687063012 | NA | MEN1 | 11 | 64810109 | T | C |
| rs386134251 | NA | 4221 | MEN1 | umls:C0025267 | CLINVAR | NA | 0.687063012 | NA | MEN1 | 11 | 64809898 | GG | - |
| rs386134253 | NA | 4221 | MEN1 | umls:C0025267 | CLINVAR | NA | 0.687063012 | NA | MEN1 | 11 | 64809857 | - | A |
| rs386134254 | NA | 4221 | MEN1 | umls:C0025267 | CLINVAR | NA | 0.687063012 | NA | MEN1 | 11 | 64809693 | G | C |
| rs386134255 | NA | 4221 | MEN1 | umls:C0025267 | CLINVAR | NA | 0.687063012 | NA | MEN1 | 11 | 64808079 | - | AATT |
| rs386134256 | NA | 4221 | MEN1 | umls:C0025267 | CLINVAR | NA | 0.687063012 | NA | MEN1 | 11 | 64808042 | A | G |
| rs386134257 | NA | 4221 | MEN1 | umls:C0025267 | CLINVAR | NA | 0.687063012 | NA | MEN1 | 11 | 64807893 | GCTCAGCCA | AGGGGC |
| rs386134258 | NA | 4221 | MEN1 | umls:C0025267 | CLINVAR | NA | 0.687063012 | NA | MEN1 | 11 | 64807889 | ACCCGCTC | - |
| rs386134259 | NA | 4221 | MEN1 | umls:C0025267 | CLINVAR | NA | 0.687063012 | NA | MEN1 | 11 | 64807577 | G | T,A |
| rs386134260 | NA | 4221 | MEN1 | umls:C0025267 | CLINVAR | NA | 0.687063012 | NA | MEN1 | 11 | 64806345 | G | C |
| rs386134261 | NA | 4221 | MEN1 | umls:C0025267 | CLINVAR | NA | 0.687063012 | NA | MEN1 | 11 | 64806325 | - | A |
| rs397515385 | NA | 4221 | MEN1 | umls:C0025267 | CLINVAR | NA | 0.687063012 | NA | MEN1 | 11 | 64809708 | G | - |
| rs730882136 | NA | 4221 | MEN1 | umls:C0025267 | CLINVAR | NA | 0.687063012 | NA | MEN1 | 11 | 64809903 | - | GGGGC |
| rs786204242 | NA | 4221 | MEN1 | umls:C0025267 | CLINVAR | NA | 0.687063012 | NA | MEN1 | 11 | 64810107 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:14) | ||||
|---|---|---|---|---|
| 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:0000825 | Hyperinsulinemic hypoglycemia | MP:0000189 | hypoglycemia | low levels of plasma glucose in the circulating blood; this generally refers to a pathological state |
| HP:0000818 | Abnormality of the endocrine system | MP:0010465 | aberrant origin of the right subclavian artery | the right subclavian artery arises from an atypical location on the aortic arch or the proximal descending aorta |
| 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:0000854 | Thyroid adenoma | 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: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:0006744 | Adrenocortical carcinoma | MP:0010367 | increased spindle cell carcinoma incidence | greater than the expected number of a highly malignant variant of squamous cell carcinoma, occurring in a specific population in a given time period; spindle cell carcinoma shows biphasic proliferation of conventional SCC component and malignant spindle s |
| HP:0012030 | Increased urinary cortisol level | MP:0009355 | increased liver triglyceride level | greater concentration of naturally occurring esters of three fatty acids and glycerol in the liver; triglycerides are widespread in adipose tissue, commonly circulate in the blood in the form of lipoproteins, and are involved in the process of bidirection |
| HP:0006767 | Pituitary prolactin cell 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:0003165 | Elevated circulating parathyroid hormone (PTH) level | MP:0011612 | increased circulating ghrelin level | greater than the normal blood concentration of the peptide hormone produced mainly by P/D1 cells lining the fundus of the stomach and epsilon cells of the pancreas that normally stimulates hunger and serves as a potent stimulator of growth hormone from th |
| HP:0008208 | Parathyroid hyperplasia | MP:0008299 | adrenal cortical hyperplasia | overdevelopment of the thick outer layer of the adrenal gland that produces and secretes steroid hormones, usually due to an increase in the number of cells |
| HP:0100570 | Carcinoid tumor | MP:0010299 | increased mammary gland tumor incidence | greater than the expected number of neoplasms in the mammary gland, usually in the form of a distinct mass, in a specific population in a given time period |
| HP:0011760 | Pituitary growth hormone cell adenoma | MP:0003497 | insensitivity to parathyroid hormone | no changes in calcium homeostasis in response to endogenous or exogenous hormone |
Mapped by homologous gene(Total Items:29) | ||||
|---|---|---|---|---|
| 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:0006744 | Adrenocortical carcinoma | MP:0013886 | increased CD4-negative, CD25-positive NK T cell number | increase in the number of CD4-negative NK T cells expressing the activation marker CD25 |
| HP:0000845 | Growth hormone excess | MP:0014169 | decreased brown adipose tissue mass | decreased physical bulk or volume of brown adipose tissue |
| HP:0002893 | Pituitary adenoma | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0004398 | Peptic ulcer | 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:0010783 | Erythema | MP:0013781 | abnormal mammary gland luminal epithelium morphology | any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti |
| HP:0000854 | Thyroid adenoma | 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: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:0030404 | Glucagonoma | 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:0002044 | Zollinger-Ellison syndrome | 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:0003072 | Hypercalcemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0012030 | Increased urinary cortisol level | MP:0011090 | perinatal 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 within the perinatal period (Mus: E18.5 through postnatal day 1) |
| HP:0007449 | Confetti-like hypopigmented macules | 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: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:0001012 | Multiple lipomas | 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:0000843 | Hyperparathyroidism | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0002574 | Episodic abdominal pain | MP:0012504 | increased forebrain apoptosis | increase in the number of cells of the forebrain undergoing programmed cell death |
| HP:0006767 | Pituitary prolactin cell adenoma | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0008283 | Fasting hyperinsulinemia | MP:0011085 | postnatal lethality, complete penetrance | premature death anytime between the neonatal period and weaning age of all organisms of a given genotype in a population (Mus: P1 to approximately 3 weeks of age) |
| HP:0000818 | Abnormality of the endocrine system | MP:0013367 | parotid gland inflammation | local accumulation of fluid, plasma proteins, and leukocytes in either of the largest of the major salivary glands situated below and in front of each ear |
| HP:0100570 | Carcinoid tumor | 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:0003165 | Elevated circulating parathyroid hormone (PTH) level | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0011760 | Pituitary growth hormone cell adenoma | MP:0014167 | ectopic bone | the appearance of an extra bone structure at an atypical location |
| HP:0100633 | Esophagitis | 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:0008208 | Parathyroid hyperplasia | 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:0012197 | Insulinoma | 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:0000825 | Hyperinsulinemic hypoglycemia | MP:0013504 | increased embryonic tissue cell apoptosis | increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death |
| 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 |
| Disease ID | 86 |
|---|---|
| Disease | multiple endocrine neoplasia type 1 |
| Case | (Waiting for update.) |