hyperparathyroidism |
Disease ID | 179 |
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Disease | hyperparathyroidism |
Manually Symptom | UMLS | Name(Total Manually Symptoms:81) C2697383 | osteosarcoma C2678504 | osteoporosis C2364377 | delirium C2186538 | thyroid disease C2116082 | thyroid nodule C1963198 | pancreatitis C1963154 | renal failure C1963138 | hypertension C1963101 | encephalopathy C1963077 | bone pain C1868653 | calcific pancreatitis C1855534 | logic syndrome C1839611 | n syndrome C1546654 | granuloma C1420725 | thymoma C1285508 | parathyromatosis C1136085 | monoclonal gammopathy C0865171 | parathyroiditis C0752303 | urological manifestation C0740394 | hyperuricemia C0687150 | parathyroid cancer C0581883 | deafness C0549473 | thyroid carcinoma C0451641 | urolithiasis C0403477 | medullary nephrocalcinosis C0392525 | renal lithiasis C0392525 | nephrolithiasis C0376293 | stigmata C0342650 | periarticular calcification C0342634 | neonatal hypocalcemia C0277792 | pathognomonic sign C0265097 | basilar artery narrowing C0262587 | parathyroid adenomas C0238462 | medullary carcinoma of the thyroid C0155288 | papilloedema C0155120 | band keratopathy C0149887 | slipped capital femoral epiphysis C0149521 | chronic pancreatitis C0043515 | zollinger-ellison syndrome C0042373 | vascular disease C0040137 | thyroid nodules C0040136 | thyroid tumor C0038454 | stroke C0033774 | itching C0033375 | prolactinoma C0032962 | pregnancy complications C0032617 | polyuria C0030920 | peptic ulcer disease C0030920 | gastroduodenal ulcers C0030521 | parathyroid neoplasm C0030283 | pancreatic cyst C0029464 | osteosclerosis C0029405 | osteitis fibrosa cystica C0029405 | brown tumour C0029405 | brown tumor C0027765 | neurological disease C0026987 | myelosclerosis C0026848 | myopathy C0025267 | multiple endocrine adenomatosis type 1 C0024473 | magnesium deficiency C0022951 | lactose intolerance C0022681 | cacchi ricci disease C0022658 | renal disease C0020437 | hypercalcemia C0020437 | hypercalcaemia C0017525 | giant cell tumor C0016063 | osteitis fibrosa C0012569 | diplopia C0011860 | diabetes C0008489 | chorea C0008350 | cholelithiasis C0007279 | carotid body tumor C0007095 | carcinoid tumor C0006663 | calcinosis C0005940 | disorder of bone C0005940 | bone disease C0004093 | asthenia C0003507 | aortic stenosis C0002871 | anaemia C0001430 | adenoma C0001339 | acute pancreatitis |
Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:30) C0020437 | hypercalcemia | 50 C0035078 | renal failure | 24 C0029405 | brown tumor | 23 C0022658 | renal disease | 14 C0001430 | adenoma | 14 C0262587 | parathyroid adenomas | 10 C0005940 | bone disease | 10 C0030305 | pancreatitis | 8 C0020437 | hypercalcaemia | 8 C0549473 | thyroid carcinoma | 6 C0020538 | hypertension | 5 C0040136 | thyroid tumor | 5 C0001339 | acute pancreatitis | 5 C0029456 | osteoporosis | 4 C0016063 | osteitis fibrosa | 3 C0040128 | thyroid disease | 3 C0392525 | nephrolithiasis | 3 C0011847 | diabetes | 3 C0149521 | chronic pancreatitis | 2 C0029405 | brown tumour | 2 C0451641 | urolithiasis | 2 C0149887 | slipped capital femoral epiphysis | 2 C0029405 | osteitis fibrosa cystica | 2 C0042373 | vascular disease | 2 C0030920 | peptic ulcer disease | 1 C0017525 | giant cell tumor | 1 C0342634 | neonatal hypocalcemia | 1 C0007095 | carcinoid tumor | 1 C0006663 | calcinosis | 1 C0392525 | renal lithiasis | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
All Snps(Total Genotypes:5) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs1042636 | 22577108 | 4221 | MEN1 | umls:C0020502 | BeFree | MEN1-related hyperparathyroidism: response to cinacalcet and its relationship with the calcium-sensing receptor gene variant Arg990Gly. | 0.032494537 | 2012 | CASR | 3 | 122284922 | A | G |
rs1042636 | 22577108 | 846 | CASR | umls:C0020502 | BeFree | MEN1-related hyperparathyroidism: response to cinacalcet and its relationship with the calcium-sensing receptor gene variant Arg990Gly. | 0.140603295 | 2012 | CASR | 3 | 122284922 | A | G |
rs201858689 | 24854525 | 846 | CASR | umls:C0020502 | BeFree | The NSHPT associated with biallelic Gly768Val mutations of the CASR in two siblings with severe hypercalcemia and hyperparathyroidism and their clinically and biochemically normal heterozygous parents was transmitted as an autosomal recessive disorder in this family. | 0.140603295 | 2014 | CASR | 3 | 122284257 | G | T |
rs75076352 | 9820617 | 5979 | RET | umls:C0020502 | BeFree | These data show a low frequency of hyperparathyroidism in our cases and provide further evidence that individuals with C634R as well as with C634Y mutations of the RET proto-oncogene could be at risk for parathyroid disease. | 0.004614512 | 1998 | RET | 10 | 43114500 | T | A,C,G |
rs75996173 | 9820617 | 5979 | RET | umls:C0020502 | BeFree | These data show a low frequency of hyperparathyroidism in our cases and provide further evidence that individuals with C634R as well as with C634Y mutations of the RET proto-oncogene could be at risk for parathyroid disease. | 0.004614512 | 1998 | RET | 10 | 43114501 | G | A,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:0) |
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(Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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(Waiting for update.) |
Chemical(Total Drugs:3) | |||||||||
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CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
C0020502 | calcitriol | D002117 | 32222-06-3 | hyperparathyroidism | MESH:D006961 | therapeutic | 10515239 | ||
C0020502 | paricalcitol | C084656 | - | hyperparathyroidism | MESH:D006961 | therapeutic | 24039193 | ||
C0020502 | ritonavir | D019438 | - | hyperparathyroidism | MESH:D006961 | marker/mechanism | 12131200 |
FDA approved drug and dosage information(Total Drugs:9) | ||||||||
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DiseaseID | Drug_name | active_ingredients | strength | Dosage Form/Route | Marketing Status | TE code | RLD | RS |
MESH:D006961 | calcijex | calcitriol | 0.001MG/ML Federal Register determination that product was not discontinued or withdrawn for safety or efficacy reasons | INJECTABLE;INJECTION | Discontinued | None | Yes | No |
MESH:D006961 | zemplar | paricalcitol | 0.005MG/ML (0.005MG/ML) | SOLUTION;INTRAVENOUS | Prescription | AP | Yes | Yes |
MESH:D006961 | zemplar | paricalcitol | 1MCG | CAPSULE;ORAL | Prescription | AB | No | No |
MESH:D006961 | zemplar | paricalcitol | 0.005MG/ML (0.005MG/ML) | SOLUTION;INTRAVENOUS | Prescription | AP | Yes | Yes |
MESH:D006961 | zemplar | paricalcitol | 1MCG | CAPSULE;ORAL | Prescription | AB | No | No |
MESH:D006961 | norvir | ritonavir | 80MG/ML | SOLUTION;ORAL | Prescription | None | Yes | Yes |
MESH:D006961 | norvir | ritonavir | 100MG | CAPSULE;ORAL | Discontinued | None | No | No |
MESH:D006961 | norvir | ritonavir | 100MG | CAPSULE;ORAL | Prescription | None | Yes | Yes |
MESH:D006961 | norvir | ritonavir | 100MG | TABLET;ORAL | Prescription | AB | Yes | Yes |
FDA labeling changes(Total Drugs:9) | |||||||||||||
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DiseaseID | Pediatric_Labeling_Date | Trade_Name | Generic_Name_or_Proper_Name | Indications Studied | Label Changes Summary | Product Labeling | BPCA(B) | PREA(P) | BPCA(B) and PREA(P) | Pediatric Rule (R) | Sponsor | Pediatric Exclusivity Granted Date | NNPS |
MESH:D006961 | 11/16/2001 | calcijex | calcitriol | Management of hypocalcemia in patients undergoing chronic renal dialysis | The safety and effectiveness of calcitriol was examined in a double-blind placebo-controlled trial of 35 pediatric patients (13-18 years of age) with end-stage renal disease and on dialysis. The primary efficacy endpoint favored the calcitriol-treated versus the placebo-treated patients Transient hypercalcemia was seen in 1 of 16 calcitriol-treated patients; 6 of 16 (38%) calcitriol-treated patients and 2 of 19 (11%) placebo-treated patients had Ca x P >75 | Labeling | B | - | - | - | Abbott | 02/16/2001 | FALSE' |
MESH:D006961 | 03/31/2004 | zemplar | paricalcitol | Secondary hyperparathyroidism associated with end stage renal disease | Safety and effectiveness were examined in a 12 week randomized, double-blind, placebo-controlled study of 29 pediatric patients aged 5-19 years old with end stage renal disease on hemodialysis; information Primary efficacy analysis revealed 9 of 15 patients in Zemplar group had 2 consecutive 30 % decreases from baseline intact PTH compared with 3 of 14 patients in placebo group No patients in either group developed hypercalcemia (defined as at least one calcium value >11.2 mg/dL) during study | Labeling | B | - | - | - | Abbott | 8/12/2003 | FALSE' |
MESH:D006961 | 03/31/2004 | zemplar | paricalcitol | Secondary hyperparathyroidism associated with end stage renal disease | Safety and effectiveness were examined in a 12 week randomized, double-blind, placebo-controlled study of 29 pediatric patients aged 5-19 years old with end stage renal disease on hemodialysis; information Primary efficacy analysis revealed 9 of 15 patients in Zemplar group had 2 consecutive 30 % decreases from baseline intact PTH compared with 3 of 14 patients in placebo group No patients in either group developed hypercalcemia (defined as at least one calcium value >11.2 mg/dL) during study | Labeling | B | - | - | - | Abbott | 8/12/2003 | FALSE' |
MESH:D006961 | 10/18/2016 | zemplar | paricalcitol | Secondary hyperparathyroidism associated with chronic kidney disease (CKD) Stage 3, 4 and 5 in pediatric patients 10 to 16 years | Safety and effectiveness have been established in pediatric patients 10 to 16 years of age. Use in this age group is supported by evidence from adequate and well controlled studies in adults with CKD, a 12-week double-blind placebo-controlled randomized multicenter study in 36 pediatric patients 10 to 16 years of age with CKD Stages 3 and 4, and safety data from a 12-week open-label single-arm multicenter study in 13 pediatric patients 10 to 16 years of age with CKD Stage 5 receiving peritoneal dialysis or hemodialysis. Safety and effectiveness in pediatric patients under the age of 10 years have not been established. Adverse reactions were similar to those reported in adults. Information on dosing, pharmacokinetic parameters, and clinical trial. Postmarketing study | - | - | P | - | - | AbbVie Inc. | - | FALSE |
MESH:D006961 | 10/18/2016 | zemplar | paricalcitol | Secondary hyperparathyroidism associated with chronic kidney disease (CKD) Stage 3, 4 and 5 in pediatric patients 10 to 16 years | Safety and effectiveness have been established in pediatric patients 10 to 16 years of age. Use in this age group is supported by evidence from adequate and well controlled studies in adults with CKD, a 12-week double-blind placebo-controlled randomized multicenter study in 36 pediatric patients 10 to 16 years of age with CKD Stages 3 and 4, and safety data from a 12-week open-label single-arm multicenter study in 13 pediatric patients 10 to 16 years of age with CKD Stage 5 receiving peritoneal dialysis or hemodialysis. Safety and effectiveness in pediatric patients under the age of 10 years have not been established. Adverse reactions were similar to those reported in adults. Information on dosing, pharmacokinetic parameters, and clinical trial. Postmarketing study | - | - | P | - | - | AbbVie Inc. | - | FALSE |
MESH:D006961 | 6/10/2005 | norvir | ritonavir | Treatment of HIV-infection in combination with other antiretroviral agents | Extended age range from 2 years down to 1 month AE profile in the pediatric population was similar to that for adults Information on dose and PK parameters | Labeling | B | - | - | - | Abbott | 06/14/2005 | FALSE' |
MESH:D006961 | 6/10/2005 | norvir | ritonavir | Treatment of HIV-infection in combination with other antiretroviral agents | Extended age range from 2 years down to 1 month AE profile in the pediatric population was similar to that for adults Information on dose and PK parameters | Labeling | B | - | - | - | Abbott | 06/14/2005 | FALSE' |
MESH:D006961 | 6/10/2005 | norvir | ritonavir | Treatment of HIV-infection in combination with other antiretroviral agents | Extended age range from 2 years down to 1 month AE profile in the pediatric population was similar to that for adults Information on dose and PK parameters | Labeling | B | - | - | - | Abbott | 06/14/2005 | FALSE' |
MESH:D006961 | 6/10/2005 | norvir | ritonavir | Treatment of HIV-infection in combination with other antiretroviral agents | Extended age range from 2 years down to 1 month AE profile in the pediatric population was similar to that for adults Information on dose and PK parameters | Labeling | B | - | - | - | Abbott | 06/14/2005 | FALSE' |