eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| primary hyperparathyroidism | ||||
| Disease ID | 559 |
|---|---|
| Disease | primary hyperparathyroidism |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:137) C2712322 | tachycardia C2697380 | parathyroid carcinoma C2678504 | osteoporosis C2598155 | pain C2364118 | weakness C2364051 | fatigue C2267227 | bulimia nervosa C2243088 | erosive gastritis C2186538 | thyroid disease C2108112 | ventricular fibrillation C1963198 | pancreatitis C1963138 | hypertension C1963077 | bone pain C1855534 | logic syndrome C1839611 | n syndrome C1704380 | distal renal tubular acidosis C1611184 | coronary artery calcification C1555754 | cardiovascular disease C1336753 | thyroid lymphoma C1332900 | cerebellar hemangioblastoma C1269683 | major depression C1263989 | regenerative anemia C1136085 | monoclonal gammopathy C1000483 | anemia C0949691 | spondyloarthropathy C0919718 | mitral valve calcification C0856169 | endothelial dysfunction C0852420 | neuromuscular junction dysfunction C0796095 | c syndrome C0751498 | sigmoid colon cancer C0740394 | hyperuricemia C0687150 | parathyroid cancer C0679466 | cognitive deficits C0553730 | chondrocalcinosis C0549473 | thyroid cancer C0520473 | organic psychosis C0476270 | cardiovascular symptoms C0451641 | urolithiasis C0427008 | stiffness C0426576 | gastrointestinal symptoms C0424755 | fever C0422833 | ent symptoms C0409860 | milwaukee shoulder C0409213 | shoulder arthropathy C0392525 | renal lithiasis C0392525 | nephrolithiasis C0349529 | carcinoid tumour of the stomach C0346405 | ectopic parathyroid adenoma C0271844 | parathyroid hyperplasia C0271682 | sensorimotor polyneuropathy C0271650 | impaired glucose tolerance C0271650 | glucose intolerance C0271561 | growth hormone deficiency C0264523 | pulmonary calcification C0264009 | osteodystrophy C0262587 | parathyroid gland adenoma C0262587 | parathyroid adenomas C0262587 | parathyroid adenoma C0259779 | fibrous dysplasia C0238463 | papillary thyroid carcinoma C0236048 | gastric polyp C0235394 | wasting C0233401 | psychiatric symptoms C0233397 | psychological symptoms C0232766 | asterixis C0232488 | colic C0232306 | left ventricular hypertrophy C0206734 | hemangioblastoma C0152244 | aneurysmal bone cyst C0152023 | hypercalcemic nephropathy C0149887 | slipped capital femoral epiphysis C0149887 | slipped capital femoral epiphyses C0149721 | lv hypertrophy C0149521 | relapsing pancreatitis C0149521 | chronic pancreatitis C0085655 | polymyositis C0042870 | vitamin d deficiency C0040137 | thyroid nodules C0040136 | thyroid neoplasia C0040128 | thyroid gland disease C0040128 | thyroid diseases C0040127 | thyroid storm C0040127 | thyroid crisis C0037930 | spinal tumour C0037926 | spinal cord compression C0035579 | rickets C0035258 | restless legs syndrome C0033975 | psychosis C0033802 | pseudogout C0030920 | peptic ulcer C0030521 | parathyroid tumour C0030521 | parathyroid tumor C0030517 | parathyroid disease C0030299 | pancreatic pseudocysts C0029464 | osteosclerosis C0029442 | osteomalacia C0029405 | osteitis fibrosa cystica C0029405 | brown tumour C0029405 | brown tumor C0027868 | neuromuscular disease C0027809 | schwannoma C0027709 | nephrocalcinosis C0027662 | multiple endocrine neoplasia syndromes C0026848 | myopathy C0026764 | myeloma C0026764 | multiple myeloma C0026141 | milk-alkali syndrome C0024958 | tumor of the maxillary sinus C0024454 | maffucci's syndrome C0020676 | hypothyroidism C0020615 | hypoglycemia C0020598 | hypocalcemia C0020459 | hyperinsulinemia C0020456 | hyperglycemia C0020438 | hypercalciuria C0020437 | hypercalcemia syndrome C0020437 | hypercalcemia C0020437 | hypercalcaemia C0019080 | hemorrhage C0016053 | fibromyalgia C0015624 | fanconi syndrome C0011860 | type 2 diabetes mellitus C0011860 | diabetes C0011849 | diabetes mellitus C0010054 | coronary sclerosis C0008372 | intrahepatic cholestasis C0008350 | cholelithiasis C0007787 | transient ischemic attacks C0007222 | cardiovascular diseases C0006666 | calciphylaxis C0005940 | bone disease C0004153 | atherosclerosis C0003850 | arteriosclerosis C0002871 | anaemia C0001430 | adenoma C0001339 | acute pancreatitis C0000809 | habitual abortion |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:53) C0001430 | adenoma | 21 C0262587 | parathyroid adenoma | 18 C0020437 | hypercalcemia | 16 C0029405 | brown tumor | 11 C0262587 | parathyroid adenomas | 9 C0687150 | parathyroid carcinoma | 6 C0030305 | pancreatitis | 6 C0020437 | hypercalcaemia | 6 C0042870 | vitamin d deficiency | 5 C0392525 | nephrolithiasis | 4 C0040128 | thyroid disease | 4 C0029405 | osteitis fibrosa cystica | 4 C0020598 | hypocalcemia | 4 C0030521 | parathyroid tumor | 3 C0238463 | papillary thyroid carcinoma | 3 C0005940 | bone disease | 3 C0001339 | acute pancreatitis | 3 C0007115 | thyroid cancer | 3 C0451641 | urolithiasis | 3 C0030517 | parathyroid disease | 3 C0026764 | multiple myeloma | 2 C0149521 | chronic pancreatitis | 2 C0149887 | slipped capital femoral epiphysis | 2 C0392525 | renal lithiasis | 2 C0856169 | endothelial dysfunction | 2 C0796095 | c syndrome | 2 C0006666 | calciphylaxis | 2 C0271844 | parathyroid hyperplasia | 2 C0020538 | hypertension | 2 C0004093 | weakness | 2 C0007222 | cardiovascular disease | 2 C0262587 | parathyroid gland adenoma | 2 C0015672 | fatigue | 2 C0020676 | hypothyroidism | 1 C0008350 | cholelithiasis | 1 C0040128 | thyroid diseases | 1 C0029456 | osteoporosis | 1 C1611184 | coronary artery calcification | 1 C0040137 | thyroid nodules | 1 C1136085 | monoclonal gammopathy | 1 C0029405 | brown tumour | 1 C0159069 | impaired glucose tolerance | 1 C0233401 | psychiatric symptoms | 1 C0271650 | glucose intolerance | 1 C0259779 | fibrous dysplasia | 1 C0020438 | hypercalciuria | 1 C0019080 | hemorrhage | 1 C0001126 | distal renal tubular acidosis | 1 C0040127 | thyroid crisis | 1 C0264523 | pulmonary calcification | 1 C0426576 | gastrointestinal symptoms | 1 C0027709 | nephrocalcinosis | 1 C0016053 | fibromyalgia | 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:20) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1042636 | 17062884 | 846 | CASR | umls:C0221002 | BeFree | R990G polymorphism of the calcium-sensing receptor and renal calcium excretion in patients with primary hyperparathyroidism. | 0.018978525 | 2006 | CASR | 3 | 122284922 | A | G |
| rs1042636 | 23946278 | 846 | CASR | umls:C0221002 | BeFree | The purpose of this study was to investigate the distribution of the A986S and R990G polymorphisms of the calcium-sensing receptor (CASR) gene in the Chinese population and whether there is an association between genetic variants and the risk of developing primary hyperparathyroidism (PHPT) and its associated clinical phenotypes. | 0.018978525 | 2013 | CASR | 3 | 122284922 | A | G |
| rs111033565 | 18076731 | 5644 | PRSS1 | umls:C0221002 | BeFree | These individuals and 50 patients with pHPT without pancreatitis were analyzed for mutations in the serine protease inhibitor Kazal type I (SPINK1) gene (N34S) and the cationic trypsinogen gene (PRSS1) (N29I, R122H) by melting curve analysis and DNA sequencing. | 0.002638474 | 2008 | PRSS1 | 7 | 142751938 | G | A |
| rs111033566 | 18076731 | 5644 | PRSS1 | umls:C0221002 | BeFree | These individuals and 50 patients with pHPT without pancreatitis were analyzed for mutations in the serine protease inhibitor Kazal type I (SPINK1) gene (N34S) and the cationic trypsinogen gene (PRSS1) (N29I, R122H) by melting curve analysis and DNA sequencing. | 0.002638474 | 2008 | PRSS1 | 7 | 142750600 | A | C,T |
| rs17107315 | 18076731 | 6690 | SPINK1 | umls:C0221002 | BeFree | Pancreatitis risk in primary hyperparathyroidism: relation to mutations in the SPINK1 trypsin inhibitor (N34S) and the cystic fibrosis gene. | 0.002909916 | 2008 | SPINK1 | 5 | 147828115 | T | C |
| rs17107315 | 18076731 | 5644 | PRSS1 | umls:C0221002 | BeFree | These individuals and 50 patients with pHPT without pancreatitis were analyzed for mutations in the serine protease inhibitor Kazal type I (SPINK1) gene (N34S) and the cationic trypsinogen gene (PRSS1) (N29I, R122H) by melting curve analysis and DNA sequencing. | 0.002638474 | 2008 | SPINK1 | 5 | 147828115 | T | C |
| rs1801725 | 23946278 | 846 | CASR | umls:C0221002 | BeFree | The purpose of this study was to investigate the distribution of the A986S and R990G polymorphisms of the calcium-sensing receptor (CASR) gene in the Chinese population and whether there is an association between genetic variants and the risk of developing primary hyperparathyroidism (PHPT) and its associated clinical phenotypes. | 0.018978525 | 2013 | CASR | 3 | 122284910 | G | T |
| rs1801725 | 11580999 | 846 | CASR | umls:C0221002 | BeFree | Frequency of the calcium-sensing receptor variant A986S in patients with primary hyperparathyroidism. | 0.018978525 | 2001 | CASR | 3 | 122284910 | G | T |
| rs267606982 | 18076731 | 5644 | PRSS1 | umls:C0221002 | BeFree | These individuals and 50 patients with pHPT without pancreatitis were analyzed for mutations in the serine protease inhibitor Kazal type I (SPINK1) gene (N34S) and the cationic trypsinogen gene (PRSS1) (N29I, R122H) by melting curve analysis and DNA sequencing. | 0.002638474 | 2008 | NA | NA | NA | NA | NA |
| rs3102735 | 22185226 | 5741 | PTH | umls:C0221002 | BeFree | Subjects with PHPT and minor homocygote genotype (GG) for the OPG rs3102735 (163 A/G) and OPG rs3134070 (245 T/G) SNPs have lower BMD in the distal radius, and this association does not appear to be mediated by differences in PTH serum levels. | 0.140010754 | 2011 | TNFRSF11B;COLEC10 | 8 | 118952831 | T | C |
| rs3102735 | 22185226 | 4982 | TNFRSF11B | umls:C0221002 | BeFree | Subjects with PHPT and minor homocygote genotype (GG) for the OPG rs3102735 (163 A/G) and OPG rs3134070 (245 T/G) SNPs have lower BMD in the distal radius, and this association does not appear to be mediated by differences in PTH serum levels. | 0.000542884 | 2011 | TNFRSF11B;COLEC10 | 8 | 118952831 | T | C |
| rs3134070 | 22185226 | 4982 | TNFRSF11B | umls:C0221002 | BeFree | Subjects with PHPT and minor homocygote genotype (GG) for the OPG rs3102735 (163 A/G) and OPG rs3134070 (245 T/G) SNPs have lower BMD in the distal radius, and this association does not appear to be mediated by differences in PTH serum levels. | 0.000542884 | 2011 | TNFRSF11B;COLEC10 | 8 | 118952785 | C | T |
| rs3134070 | 22185226 | 5741 | PTH | umls:C0221002 | BeFree | Subjects with PHPT and minor homocygote genotype (GG) for the OPG rs3102735 (163 A/G) and OPG rs3134070 (245 T/G) SNPs have lower BMD in the distal radius, and this association does not appear to be mediated by differences in PTH serum levels. | 0.140010754 | 2011 | TNFRSF11B;COLEC10 | 8 | 118952785 | C | T |
| rs61734277 | 25279501 | 9247 | GCM2 | umls:C0221002 | BeFree | Increased prevalence of the GCM2 polymorphism, Y282D, in primary hyperparathyroidism: analysis of three Italian cohorts. | 0.001357209 | 2015 | GCM2 | 6 | 10874672 | A | C |
| rs6256 | NA | 5741 | PTH | umls:C0221002 | CLINVAR | NA | 0.140010754 | NA | PTH | 11 | 13492506 | G | T,A |
| rs77558292 | 19475497 | 5979 | RET | umls:C0221002 | BeFree | In conclusion, at variance from what already known, in this large kindred the Cys609Ser RET mutation predispose to a scarcely aggressive, highly penetrant MTC and a low penetrance of pheochromocytoma and primary hyperparathyroidism. | 0.006253095 | 2009 | RET | 10 | 43113621 | T | A,C,G |
| rs77558292 | 22584703 | 5979 | RET | umls:C0221002 | BeFree | In this short review article, we comment on our previous report of a large multiple endocrine neoplasia type 2A kindred with the same Cys609Ser germline RET mutation in which, conversely, the syndrome was characterized by a slightly aggressive, highly penetrant form of medullary thyroid carcinoma that was associated with low penetrance of pheochromocytoma and primary hyperparathyroidism. | 0.006253095 | 2012 | RET | 10 | 43113621 | T | A,C,G |
| rs77724903 | 16356097 | 5979 | RET | umls:C0221002 | BeFree | Primary hyperparathyroidism as the leading symptom in a patient with a Y791F RET mutation. | 0.006253095 | 2005 | RET | 10 | 43118460 | A | T |
| rs77939446 | 22584703 | 5979 | RET | umls:C0221002 | BeFree | In this short review article, we comment on our previous report of a large multiple endocrine neoplasia type 2A kindred with the same Cys609Ser germline RET mutation in which, conversely, the syndrome was characterized by a slightly aggressive, highly penetrant form of medullary thyroid carcinoma that was associated with low penetrance of pheochromocytoma and primary hyperparathyroidism. | 0.006253095 | 2012 | RET | 10 | 43113622 | G | A,C,T |
| rs77939446 | 19475497 | 5979 | RET | umls:C0221002 | BeFree | In conclusion, at variance from what already known, in this large kindred the Cys609Ser RET mutation predispose to a scarcely aggressive, highly penetrant MTC and a low penetrance of pheochromocytoma and primary hyperparathyroidism. | 0.006253095 | 2009 | RET | 10 | 43113622 | G | A,C,T |
GWASdb Annotation(Total Genotypes:0) | |
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GWASdb Snp Trait(Total Genotypes:0) | |
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Mapped by lexical matching(Total Items:0) |
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Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 559 |
|---|---|
| Disease | primary hyperparathyroidism |
| Case | (Waiting for update.) |