Home Contact Sitemap

PedAM

Pediatric Disease Annotations & Medicines



   hyperparathyroidism
  

Disease ID 179
Disease hyperparathyroidism
Definition
WHAT: Hyperparathyroidism.sHyperparathyroidism: a condition due to an increase in the secretion of the parathyroids, causing generalized osteitis fibrosa cystica, elevated serum calcium, decreased serum phosphorus, and increased excretion of both calcium and phosphorus.sWHY:sSeveral rheumatological disorders are associated with hyperpara- thyroidism. First, hyperuricemia and gouty arthritis (which may mimic hyperparathyroidism with renal stone formation and colic) have an increased incidence in patients with hyperparathyroidism. Second, patients with primary hyperparathyroidism show an increased incidence of chondrocalcinosis with episodes of calcium pyrophosphate crystal induced synovitis. Approximately 25% of patients with hyperparathyroidism will show radiographic evidence of calcification of articular cartilage and joint capsules. Finally, there can be a synovial and cartilaginous lesion ("osteogenic synovitis") in patients with hyperparathyroidism which may mimic other primary rheumatic diseases such as rheumatoid arthritis. In osteogenic synovitis there is softening and collapse of subchondral bone. Eventually the cartilage overlying this area erodes and is replaced by an irregular fibrocartilage. Eventually the articular surface of the joint is destroyed and secondary degenerative arthritis may develop.sREFS:s1) Zvaifler, NJ; Reefe, WE and Black, RL: Articular manifestations in primary hyperparathyroidism. Arthritis Rheum 5:237, 1962. 2) Scott, JT; Dixon, ASJ and Bywaters, EGL: Association of hyperuricemia and gout with hyperparathyroidism. Br Med J 1:1070, 1964. 3) Bywaters, EGL and Scott, JT : Joint lesions of hyperparathyroidism. Ann Rheum Dis 22:171-87, 1963.
Synonym
elevated blood parathyroid hormone level
hpth - hyperparathyroidism
hyperparathyroidism (disorder)
hyperparathyroidism [disease/finding]
hyperparathyroidism nos
hyperparathyroidism, nos
hyperparathyroidism, unspecified
parathyroid, hyperfunction
DOID
ICD10
UMLS
C0020502
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:132)
C0022661  |  chronic kidney disease  |  54
C0020437  |  hypercalcemia  |  50
C0022658  |  kidney disease  |  40
C0042870  |  vitamin d defic  |  24
C0042870  |  vitamin d deficiency  |  24
C0035078  |  renal failure  |  24
C0151468  |  thyroid adenoma  |  22
C0262587  |  parathyroid adenoma  |  22
C1561644  |  chronic kidney disease (ckd)  |  16
C0022661  |  chronic renal failure  |  16
C0027662  |  multiple endocrine neoplasia  |  15
C0001430  |  adenoma  |  14
C0022658  |  renal disease  |  14
C0022661  |  end-stage renal disease  |  11
C0025267  |  multiple endocrine neoplasia type 1  |  11
C0262587  |  parathyroid adenomas  |  10
C0005940  |  bone disease  |  10
C0007115  |  thyroid ca  |  8
C0020437  |  hypercalcaemia  |  8
C0030305  |  pancreatitis  |  8
C0006666  |  calciphylaxis  |  7
C0549473  |  thyroid carcinoma  |  6
C0020538  |  hypertension  |  5
C1384514  |  primary aldosteronism  |  5
C0085681  |  hyperphosphatemia  |  5
C0001339  |  acute pancreatitis  |  5
C0028754  |  obesity  |  5
C0687150  |  parathyroid carcinoma  |  4
C0029456  |  osteoporosis  |  4
C0011847  |  diabetes  |  4
C0027709  |  nephrocalcinosis  |  3
C0392525  |  nephrolithiasis  |  3
C0016063  |  osteitis fibrosa  |  3
C0031511  |  pheochromocytoma  |  3
C0040128  |  thyroid disease  |  3
C0002871  |  anemia  |  3
C0018801  |  heart failure  |  3
C0022661  |  chronic renal disease  |  3
C0029442  |  osteomalacia  |  3
C0022661  |  end stage renal disease  |  2
C0035579  |  hypovitaminosis d  |  2
C0007115  |  thyroid cancer  |  2
C0025267  |  multiple endocrine neoplasia type i  |  2
C1565489  |  renal insufficiency  |  2
C0733682  |  x-linked hypophosphatemic rickets  |  2
C0022658  |  nephropathy  |  2
C0007222  |  cardiovascular disease  |  2
C0020542  |  pulmonary hypertension  |  2
C0020503  |  secondary hyperparathyroidism  |  2
C0017661  |  iga nephropathy  |  2
C0028756  |  morbid obesity  |  2
C0020428  |  aldosteronism  |  2
C0024523  |  malabsorption  |  2
C0029401  |  paget's disease  |  2
C1621895  |  adrenal hyperplasia  |  2
C0149521  |  chronic pancreatitis  |  2
C0020428  |  hyperaldosteronism  |  2
C0026764  |  multiple myeloma  |  2
C0042373  |  vascular disease  |  2
C0024141  |  systemic lupus erythematosus  |  2
C0011849  |  diabetes mellitus  |  2
C0020626  |  hypoparathyroidism  |  2
C0035086  |  renal osteodystrophy  |  2
C0162299  |  thyroid cyst  |  1
C0011860  |  type 2 diabetes  |  1
C0035579  |  rickets  |  1
C0238463  |  papillary thyroid carcinoma  |  1
C0022408  |  arthropathy  |  1
C0033806  |  pseudohypoparathyroidism  |  1
C0011991  |  diarrhea  |  1
C0018213  |  graves' disease  |  1
C0085113  |  neurofibromatosis  |  1
C1704375  |  hypophosphatemic rickets  |  1
C0034063  |  pulmonary edema  |  1
C0017525  |  giant cell tumor  |  1
C0016053  |  fibromyalgia  |  1
C0162283  |  nephrogenic diabetes insipidus  |  1
C1305409  |  atypical adenoma  |  1
C0264716  |  chronic heart failure  |  1
C0011860  |  type 2 diabetes mellitus  |  1
C0026764  |  myeloma  |  1
C0011570  |  depression  |  1
C0030920  |  peptic ulcer disease  |  1
C0025267  |  men type 1  |  1
C0016045  |  fibroma  |  1
C0025268  |  multiple endocrine neoplasia type 2a  |  1
C0392525  |  renal lithiasis  |  1
C0014130  |  endocrine disease  |  1
C1370740  |  adrenal carcinoma  |  1
C1384514  |  primary hyperaldosteronism  |  1
C0029401  |  paget's bone disease  |  1
C0020550  |  hyperthyroidism  |  1
C0022658  |  kidney diseases  |  1
C0037317  |  sleep disturbance  |  1
C0037274  |  dermatosis  |  1
C0005586  |  bipolar disorder  |  1
C0040128  |  thyroid diseases  |  1
C0085681  |  hyperphosphataemia  |  1
C0022661  |  end-stage renal failure  |  1
C0041296  |  tuberculosis  |  1
C0001126  |  renal tubular acidosis  |  1
C0259779  |  fibrous dysplasia  |  1
C0025268  |  multiple endocrine neoplasia type 2  |  1
C0009324  |  ulcerative colitis  |  1
C0040127  |  thyroid crisis  |  1
C1510471  |  hypovitaminosis  |  1
C0035086  |  renal bone disease  |  1
C0007570  |  celiac disease  |  1
C0022661  |  end stage renal disease (esrd)  |  1
C0022661  |  end-stage kidney disease  |  1
C0006142  |  breast cancer  |  1
C0033802  |  pseudogout  |  1
C0024454  |  maffucci's syndrome  |  1
C0949691  |  spondylarthropathy  |  1
C0041948  |  uremia  |  1
C0041408  |  turner's syndrome  |  1
C0403447  |  chronic renal insufficiency  |  1
C0342637  |  familial hypocalciuric hypercalcaemia  |  1
C0018099  |  gout  |  1
C0041341  |  tuberous sclerosis complex  |  1
C0006663  |  calcinosis  |  1
C0238462  |  medullary thyroid carcinoma  |  1
C0011848  |  diabetes insipidus  |  1
C0041341  |  tuberous sclerosis  |  1
C0001206  |  acromegaly  |  1
C0409974  |  lupus erythematosus  |  1
C0159069  |  impaired glucose tolerance  |  1
C0041952  |  ureteral stone  |  1
C0678222  |  breast carcinoma  |  1
C0221406  |  cushing's disease  |  1
C0030920  |  peptic ulcer  |  1
C0007134  |  renal carcinoma  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:3)
CCND1  |  595  |  CTD_human
CASR  |  846  |  CTD_human
PTH1R  |  5745  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:6)
846  |  CASR  |  infer
595  |  CCND1  |  infer
79577  |  CDC73  |  infer
4221  |  MEN1  |  infer
5741  |  PTH  |  infer
7421  |  VDR  |  infer
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:168)
2767  |  GNA11  |  DISEASES
5837  |  PYGM  |  DISEASES
6343  |  SCT  |  DISEASES
1113  |  CHGA  |  DISEASES
1591  |  CYP24A1  |  DISEASES
479  |  ATP12A  |  DISEASES
54  |  ACP5  |  DISEASES
26063  |  DECR2  |  DISEASES
7038  |  TG  |  DISEASES
54623  |  PAF1  |  DISEASES
5539  |  PPY  |  DISEASES
595  |  CCND1  |  DISEASES
1594  |  CYP27B1  |  DISEASES
1027  |  CDKN1B  |  DISEASES
4256  |  MGP  |  DISEASES
6678  |  SPARC  |  DISEASES
2691  |  GHRH  |  DISEASES
8074  |  FGF23  |  DISEASES
5507  |  PPP1R3C  |  DISEASES
8600  |  TNFSF11  |  DISEASES
2703  |  GJA8  |  DISEASES
29085  |  PHPT1  |  DISEASES
3630  |  INS  |  DISEASES
2056  |  EPO  |  DISEASES
3727  |  JUND  |  DISEASES
10343  |  PKDREJ  |  DISEASES
50617  |  ATP6V0A4  |  DISEASES
8431  |  NR0B2  |  DISEASES
1401  |  CRP  |  DISEASES
64328  |  XPO4  |  DISEASES
759  |  CA1  |  DISEASES
2012  |  EMP1  |  DISEASES
1593  |  CYP27A1  |  DISEASES
29079  |  MED4  |  DISEASES
3569  |  IL6  |  DISEASES
570  |  BAAT  |  DISEASES
11270  |  NRM  |  DISEASES
490  |  ATP2B1  |  DISEASES
2201  |  FBN2  |  DISEASES
495  |  ATP4A  |  DISEASES
8455  |  ATRN  |  DISEASES
23523  |  CABIN1  |  DISEASES
1175  |  AP2S1  |  DISEASES
23476  |  BRD4  |  DISEASES
4036  |  LRP2  |  DISEASES
3938  |  LCT  |  DISEASES
2247  |  FGF2  |  DISEASES
5443  |  POMC  |  DISEASES
10686  |  CLDN16  |  DISEASES
56302  |  TRPV5  |  DISEASES
80349  |  WDR61  |  DISEASES
3487  |  IGFBP4  |  DISEASES
113091  |  PTH2  |  DISEASES
5972  |  REN  |  DISEASES
5746  |  PTH2R  |  DISEASES
9180  |  OSMR  |  DISEASES
57689  |  LRRC4C  |  DISEASES
5741  |  PTH  |  DISEASES
56172  |  ANKH  |  DISEASES
5018  |  OXA1L  |  DISEASES
6750  |  SST  |  DISEASES
4681  |  NBL1  |  DISEASES
1636  |  ACE  |  DISEASES
4041  |  LRP5  |  DISEASES
213  |  ALB  |  DISEASES
54502  |  RBM47  |  DISEASES
327  |  APEH  |  DISEASES
6690  |  SPINK1  |  DISEASES
4982  |  TNFRSF11B  |  DISEASES
79158  |  GNPTAB  |  DISEASES
9640  |  ZNF592  |  DISEASES
50964  |  SOST  |  DISEASES
5617  |  PRL  |  DISEASES
189  |  AGXT  |  DISEASES
3479  |  IGF1  |  DISEASES
7200  |  TRH  |  DISEASES
79660  |  PPP1R3B  |  DISEASES
26512  |  INTS6  |  DISEASES
3952  |  LEP  |  DISEASES
3184  |  HNRNPD  |  DISEASES
3090  |  HIC1  |  DISEASES
64755  |  C16orf58  |  DISEASES
7173  |  TPO  |  DISEASES
5745  |  PTH1R  |  DISEASES
85302  |  FBF1  |  DISEASES
84260  |  TCHP  |  DISEASES
22820  |  COPG1  |  DISEASES
9735  |  KNTC1  |  DISEASES
2520  |  GAST  |  DISEASES
796  |  CALCA  |  DISEASES
30  |  ACAA1  |  DISEASES
120227  |  CYP2R1  |  DISEASES
4221  |  MEN1  |  DISEASES
23583  |  SMUG1  |  DISEASES
4306  |  NR3C2  |  DISEASES
1499  |  CTNNB1  |  DISEASES
5154  |  PDGFA  |  DISEASES
5979  |  RET  |  DISEASES
10656  |  KHDRBS3  |  DISEASES
5789  |  PTPRD  |  DISEASES
344892  |  RTP2  |  DISEASES
4763  |  NF1  |  DISEASES
5573  |  PRKAR1A  |  DISEASES
55503  |  TRPV6  |  DISEASES
387129  |  NPSR1  |  DISEASES
149371  |  EXOC8  |  DISEASES
9646  |  CTR9  |  DISEASES
9851  |  KIAA0753  |  DISEASES
142680  |  SLC34A3  |  DISEASES
8707  |  B3GALT2  |  DISEASES
79577  |  CDC73  |  DISEASES
55811  |  ADCY10  |  DISEASES
6391  |  SDHC  |  DISEASES
6708  |  SPTA1  |  DISEASES
632  |  BGLAP  |  DISEASES
51205  |  ACP6  |  DISEASES
27246  |  RNF115  |  DISEASES
1806  |  DPYD  |  DISEASES
55118  |  CRTAC1  |  DISEASES
2258  |  FGF13  |  DISEASES
2778  |  GNAS  |  DISEASES
25973  |  PARS2  |  DISEASES
860  |  RUNX2  |  DISEASES
310  |  ANXA7  |  DISEASES
22943  |  DKK1  |  DISEASES
54836  |  BSPRY  |  DISEASES
249  |  ALPL  |  DISEASES
63940  |  GPSM3  |  DISEASES
6390  |  SDHB  |  DISEASES
6392  |  SDHD  |  DISEASES
2159  |  F10  |  DISEASES
3055  |  HCK  |  DISEASES
3274  |  HRH2  |  DISEASES
5251  |  PHEX  |  DISEASES
9247  |  GCM2  |  DISEASES
51334  |  PRR16  |  DISEASES
79625  |  NDNF  |  DISEASES
9365  |  KL  |  DISEASES
795  |  S100G  |  DISEASES
551  |  AVP  |  DISEASES
6902  |  TBCA  |  DISEASES
833  |  CARS  |  DISEASES
3486  |  IGFBP3  |  DISEASES
2618  |  GART  |  DISEASES
238  |  ALK  |  DISEASES
2591  |  GALNT3  |  DISEASES
51651  |  PTRH2  |  DISEASES
6152  |  RPL24  |  DISEASES
6696  |  SPP1  |  DISEASES
655  |  BMP7  |  DISEASES
5744  |  PTHLH  |  DISEASES
7018  |  TF  |  DISEASES
10636  |  RGS14  |  DISEASES
2641  |  GCG  |  DISEASES
3481  |  IGF2  |  DISEASES
2260  |  FGFR1  |  DISEASES
197  |  AHSG  |  DISEASES
162466  |  PHOSPHO1  |  DISEASES
57862  |  ZNF410  |  DISEASES
7812  |  CSDE1  |  DISEASES
846  |  CASR  |  DISEASES
2638  |  GC  |  DISEASES
55922  |  NKRF  |  DISEASES
7421  |  VDR  |  DISEASES
8972  |  MGAM  |  DISEASES
8825  |  LIN7A  |  DISEASES
567  |  B2M  |  DISEASES
103164619  |  PCAT2  |  DISEASES
Locus(Waiting for update.)
Disease ID 179
Disease hyperparathyroidism
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:106)
HP:0003072  |  Hypercalcemia  |  58
HP:0012622  |  Chronic kidney disease  |  53
HP:0002664  |  Neoplasia  |  38
HP:0003774  |  End-stage renal failure  |  30
HP:0000083  |  Renal insufficiency  |  26
HP:0100512  |  Vitamin D deficiency  |  24
HP:0002897  |  Parathyroid adenoma  |  22
HP:0000854  |  Thyroid adenoma  |  22
HP:0100568  |  Endocrine neoplasia  |  13
HP:0002901  |  Hypocalcemia  |  10
HP:0000787  |  Renal calculi  |  9
HP:0001733  |  Pancreatic inflammation  |  8
HP:0008208  |  Parathyroid hyperplasia  |  7
HP:0030731  |  Carcinoma  |  7
HP:0002890  |  Thyroid carcinoma  |  6
HP:0000822  |  Hypertension  |  5
HP:0001735  |  Acute pancreatitis  |  5
HP:0001513  |  Obesity  |  5
HP:0004934  |  Vascular calcification  |  4
HP:0000939  |  Osteoporosis  |  4
HP:0002905  |  Hyperphosphatemia  |  4
HP:0006780  |  Parathyroid Cancer  |  4
HP:0008249  |  Large thyroid  |  4
HP:0000820  |  Thyroid abnormality  |  3
HP:0001635  |  Congestive heart failure  |  3
HP:0001903  |  Anemia  |  3
HP:0000121  |  Nephrocalcinosis  |  3
HP:0002666  |  Pheochromocytoma  |  3
HP:0011769  |  Ectopic parathyroid  |  2
HP:0002092  |  Pulmonary artery hypertension  |  2
HP:0008221  |  Enlarged adrenal glands  |  2
HP:0002148  |  Hypophosphataemia  |  2
HP:0002150  |  Hypercalcinuria  |  2
HP:0006280  |  Chronic pancreas inflammation  |  2
HP:0002749  |  Osteomalacia  |  2
HP:0000829  |  Hypoparathyroidism  |  2
HP:0000855  |  Insulin resistance  |  2
HP:0000819  |  Diabetes mellitus  |  2
HP:0000867  |  Secondary hyperparathyroidism  |  2
HP:0002725  |  Systemic lupus erythematosus  |  2
HP:0000859  |  Mineralocorticoid excess  |  2
HP:0001324  |  Muscular weakness  |  2
HP:0002024  |  Intestinal malabsorption  |  2
HP:0006775  |  Multiple myeloma  |  2
HP:0002917  |  Low blood magnesium levels  |  2
HP:0003002  |  Breast carcinoma  |  2
HP:0000969  |  Dropsy  |  1
HP:0002865  |  Medullary thyroid carcinoma  |  1
HP:0000117  |  Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate  |  1
HP:0006744  |  Adrenal carcinoma  |  1
HP:0001250  |  Seizures  |  1
HP:0100735  |  Hypertensive crisis  |  1
HP:0011782  |  Thyroid crisis  |  1
HP:0008341  |  Renal tubular acidosis, type I  |  1
HP:0100279  |  Ulcerative colitis  |  1
HP:0100550  |  Rupture of tendons  |  1
HP:0040198  |  Nonmedullary thyroid carcinoma  |  1
HP:0100785  |  Insomnia  |  1
HP:0000833  |  Glucose intolerance  |  1
HP:0430028  |  Increased size of maxilla  |  1
HP:0100598  |  Pulmonary oedema  |  1
HP:0003388  |  Easy fatigability  |  1
HP:0000924  |  Abnormality of the skeletal system  |  1
HP:0001347  |  Hyperreflexia  |  1
HP:0004912  |  Hypophosphatemic rickets  |  1
HP:0001919  |  Acute renal failure  |  1
HP:0003040  |  Arthropathy  |  1
HP:0002360  |  Sleep disturbance  |  1
HP:0002895  |  Papillary thyroid carcinoma  |  1
HP:0003355  |  Aminoaciduria  |  1
HP:0007302  |  Bipolar disorder  |  1
HP:0012378  |  Fatigue  |  1
HP:0003165  |  Elevated circulating PTH level  |  1
HP:0100570  |  Carcinoid tumor  |  1
HP:0002014  |  Diarrhea  |  1
HP:0011736  |  Primary hyperaldosteronism  |  1
HP:0000845  |  Acromegalic growth  |  1
HP:0003761  |  Calcinosis  |  1
HP:0001941  |  acidemia  |  1
HP:0001997  |  Gout  |  1
HP:0000112  |  Nephropathy  |  1
HP:0011675  |  Arrhythmias  |  1
HP:0008231  |  Macronodular adrenal hyperplasia  |  1
HP:0011780  |  Thyroid hemiagenesis  |  1
HP:0010614  |  Fibroma  |  1
HP:0010783  |  Erythema  |  1
HP:0004398  |  Peptic ulcer  |  1
HP:0011001  |  Increased bone mineral density  |  1
HP:0012743  |  Central obesity  |  1
HP:0030404  |  Glucagonoma  |  1
HP:0002608  |  Celiac disease  |  1
HP:0002797  |  Increased bone resorption  |  1
HP:0000989  |  pruritis  |  1
HP:0030159  |  Cervical polyp  |  1
HP:0003109  |  Hyperphosphaturia  |  1
HP:0005584  |  Renal cell carcinoma  |  1
HP:0001947  |  Renal tubular acidosis  |  1
HP:0002900  |  Hypokalemia  |  1
HP:0012735  |  Coughing  |  1
HP:0002748  |  Rickets  |  1
HP:0000716  |  Depression  |  1
HP:0003324  |  Muscle weakness, diffuse  |  1
HP:0000836  |  Overactive thyroid  |  1
HP:0030426  |  Ossifying fibroma  |  1
HP:0000852  |  Pseudohypoparathyroidism  |  1
HP:0001067  |  Neurofibromas  |  1
Disease ID 179
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)
(Waiting for update.)
All Snps(Total Genotypes:5)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs1042636225771084221MEN1umls:C0020502BeFreeMEN1-related hyperparathyroidism: response to cinacalcet and its relationship with the calcium-sensing receptor gene variant Arg990Gly.0.0324945372012CASR3122284922AG
rs104263622577108846CASRumls:C0020502BeFreeMEN1-related hyperparathyroidism: response to cinacalcet and its relationship with the calcium-sensing receptor gene variant Arg990Gly.0.1406032952012CASR3122284922AG
rs20185868924854525846CASRumls:C0020502BeFreeThe 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.0.1406032952014CASR3122284257GT
rs7507635298206175979RETumls:C0020502BeFreeThese 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.0.0046145121998RET1043114500TA,C,G
rs7599617398206175979RETumls:C0020502BeFreeThese 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.0.0046145121998RET1043114501GA,C,T
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Chemical(Total Drugs:3)
CUI ChemicalName ChemicalID CasRN DiseaseName DiseaseID DirectEvidence PubMedIDs
C0020502calcitriolD00211732222-06-3hyperparathyroidismMESH:D006961therapeutic10515239
C0020502paricalcitolC084656-hyperparathyroidismMESH:D006961therapeutic24039193
C0020502ritonavirD019438-hyperparathyroidismMESH:D006961marker/mechanism12131200
FDA approved drug and dosage information(Total Drugs:9)
DiseaseID Drug_name active_ingredients strength Dosage Form/Route Marketing Status TE code RLD RS
MESH:D006961calcijexcalcitriol0.001MG/ML Federal Register determination that product was not discontinued or withdrawn for safety or efficacy reasonsINJECTABLE;INJECTIONDiscontinuedNoneYesNo
MESH:D006961zemplarparicalcitol0.005MG/ML (0.005MG/ML)SOLUTION;INTRAVENOUSPrescriptionAPYesYes
MESH:D006961zemplarparicalcitol1MCGCAPSULE;ORALPrescriptionABNoNo
MESH:D006961zemplarparicalcitol0.005MG/ML (0.005MG/ML)SOLUTION;INTRAVENOUSPrescriptionAPYesYes
MESH:D006961zemplarparicalcitol1MCGCAPSULE;ORALPrescriptionABNoNo
MESH:D006961norvirritonavir80MG/MLSOLUTION;ORALPrescriptionNoneYesYes
MESH:D006961norvirritonavir100MGCAPSULE;ORALDiscontinuedNoneNoNo
MESH:D006961norvirritonavir100MGCAPSULE;ORALPrescriptionNoneYesYes
MESH:D006961norvirritonavir100MGTABLET;ORALPrescriptionABYesYes
FDA labeling changes(Total Drugs:9)
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:D00696111/16/2001calcijexcalcitriolManagement of hypocalcemia in patients undergoing chronic renal dialysisThe 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 >75LabelingB---Abbott02/16/2001FALSE'
MESH:D00696103/31/2004zemplarparicalcitolSecondary hyperparathyroidism associated with end stage renal diseaseSafety 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 studyLabelingB---Abbott8/12/2003FALSE'
MESH:D00696103/31/2004zemplarparicalcitolSecondary hyperparathyroidism associated with end stage renal diseaseSafety 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 studyLabelingB---Abbott8/12/2003FALSE'
MESH:D00696110/18/2016zemplarparicalcitolSecondary hyperparathyroidism associated with chronic kidney disease (CKD) Stage 3, 4 and 5 in pediatric patients 10 to 16 yearsSafety 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:D00696110/18/2016zemplarparicalcitolSecondary hyperparathyroidism associated with chronic kidney disease (CKD) Stage 3, 4 and 5 in pediatric patients 10 to 16 yearsSafety 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:D0069616/10/2005norvirritonavirTreatment of HIV-infection in combination with other antiretroviral agentsExtended 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 parametersLabelingB---Abbott06/14/2005FALSE'
MESH:D0069616/10/2005norvirritonavirTreatment of HIV-infection in combination with other antiretroviral agentsExtended 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 parametersLabelingB---Abbott06/14/2005FALSE'
MESH:D0069616/10/2005norvirritonavirTreatment of HIV-infection in combination with other antiretroviral agentsExtended 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 parametersLabelingB---Abbott06/14/2005FALSE'
MESH:D0069616/10/2005norvirritonavirTreatment of HIV-infection in combination with other antiretroviral agentsExtended 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 parametersLabelingB---Abbott06/14/2005FALSE'