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Pediatric Disease Annotations & Medicines



   calcinosis
  

Disease ID 907
Disease calcinosis
Definition
Pathologic deposition of calcium salts in tissues.
Synonym
calcification pathol
calcification, pathologic
calcifications tissue
calcinoses
calcinosis (disorder)
calcinosis [disease/finding]
calcium deposit(s)
deposit(s), calcium
heterotopic calcification
macrocalcification
pathol calcification
pathologic calcification
tissue calcification
DOID
UMLS
C0006663
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:47)
C0011633  |  dermatomyositis  |  9
C0036421  |  systemic sclerosis  |  8
C0263666  |  juvenile dermatomyositis  |  8
C0409974  |  lupus erythematosus  |  5
C0024141  |  systemic lupus erythematosus  |  4
C0009782  |  connective tissue disease  |  2
C0011644  |  scleroderma  |  2
C0085681  |  hyperphosphatemia  |  2
C0026846  |  muscle atrophy  |  2
C0149931  |  migraine  |  1
C0020503  |  secondary hyperparathyroidism  |  1
C0014858  |  esophageal dysmotility  |  1
C0020437  |  hypercalcemia  |  1
C0009782  |  connective tissue diseases  |  1
C0034735  |  raynaud's phenomenon  |  1
C1306557  |  chronic venous insufficiency  |  1
C0206673  |  syringomas  |  1
C0014858  |  oesophageal dysmotility  |  1
C0033860  |  psoriasis  |  1
C0026846  |  muscular atrophy  |  1
C0020626  |  hypoparathyroidism  |  1
C0042384  |  vasculitis  |  1
C0026848  |  myopathy  |  1
C0022661  |  chronic kidney disease  |  1
C0002726  |  amyloidosis  |  1
C0221056  |  adult dermatomyositis  |  1
C0035435  |  rheumatic disease  |  1
C0022661  |  chronic renal failure  |  1
C0026272  |  mixed connective tissue disease  |  1
C0024137  |  cutaneous lupus erythematosus  |  1
C0036202  |  sarcoidosis  |  1
C0037944  |  spinal stenosis  |  1
C0155550  |  neural deafness  |  1
C1527336  |  sjogren's syndrome  |  1
C0040034  |  thrombocytopenia  |  1
C0035078  |  renal failure  |  1
C0009492  |  compartment syndrome  |  1
C0003864  |  arthritis  |  1
C0003873  |  rheumatoid arthritis  |  1
C0018784  |  sensorineural deafness  |  1
C0410422  |  chronic recurrent multifocal osteomyelitis  |  1
C0020502  |  hyperparathyroidism  |  1
C0042485  |  venous insufficiency  |  1
C0206673  |  syringoma  |  1
C0035435  |  rheumatic diseases  |  1
C0022658  |  kidney disease  |  1
C0021053  |  immune disorder  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:38)
POMC  |  5443  |  CTD_human
COL1A1  |  1277  |  CTD_human
CASP3  |  836  |  CTD_human
NOTCH1  |  4851  |  CTD_human
CCL2  |  6347  |  CTD_human
MMP9  |  4318  |  CTD_human
IL1B  |  3553  |  CTD_human
GALNT3  |  2591  |  CTD_human
SPP1  |  6696  |  CTD_human
LSP1  |  4046  |  CTD_human
DMD  |  1756  |  CTD_human
MMP2  |  4313  |  CTD_human
COL18A1  |  80781  |  CTD_human
EPO  |  2056  |  CTD_human
TIMP1  |  7076  |  CTD_human
JAK2  |  3717  |  CTD_human
ITGB2  |  3689  |  CTD_human
KL  |  9365  |  CTD_human
RIPK3  |  11035  |  CTD_human
PYCARD  |  29108  |  CTD_human
IL18  |  3606  |  CTD_human
C6  |  729  |  CTD_human
ALPL  |  249  |  CTD_human
SPN  |  6693  |  CTD_human
PDGFB  |  5155  |  CTD_human
ITGB1  |  3688  |  CTD_human
SLC20A2  |  6575  |  CTD_human
LY86  |  9450  |  CTD_human
CTC1  |  80169  |  CTD_human
FGF23  |  8074  |  CTD_human
AHSG  |  197  |  CTD_human
PDGFRB  |  5159  |  CTD_human
FCGR1A  |  2209  |  CTD_human
LCN2  |  3934  |  CTD_human
XPR1  |  9213  |  CTD_human
BGLAP  |  632  |  CTD_human
PTPN6  |  5777  |  CTD_human
SLC22A6  |  9356  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:2)
2859  |  GPR35  |  infer
4846  |  NOS3  |  infer
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:182)
5954  |  RCN1  |  DISEASES
9812  |  KIAA0141  |  DISEASES
6561  |  SLC13A1  |  DISEASES
359  |  AQP2  |  DISEASES
368  |  ABCC6  |  DISEASES
55644  |  OSGEP  |  DISEASES
1591  |  CYP24A1  |  DISEASES
479  |  ATP12A  |  DISEASES
79650  |  USB1  |  DISEASES
2091  |  FBL  |  DISEASES
973  |  CD79A  |  DISEASES
3381  |  IBSP  |  DISEASES
1594  |  CYP27B1  |  DISEASES
4256  |  MGP  |  DISEASES
23438  |  HARS2  |  DISEASES
6678  |  SPARC  |  DISEASES
64902  |  AGXT2  |  DISEASES
4358  |  MPV17  |  DISEASES
25806  |  VAX2  |  DISEASES
525  |  ATP6V1B1  |  DISEASES
8074  |  FGF23  |  DISEASES
6631  |  SNRPC  |  DISEASES
57505  |  AARS2  |  DISEASES
3630  |  INS  |  DISEASES
26290  |  GALNT8  |  DISEASES
10343  |  PKDREJ  |  DISEASES
50617  |  ATP6V0A4  |  DISEASES
22856  |  CHSY1  |  DISEASES
6737  |  TRIM21  |  DISEASES
1401  |  CRP  |  DISEASES
2012  |  EMP1  |  DISEASES
55034  |  MOCOS  |  DISEASES
1182  |  CLCN3  |  DISEASES
16  |  AARS  |  DISEASES
9172  |  MYOM2  |  DISEASES
495  |  ATP4A  |  DISEASES
9949  |  AMMECR1  |  DISEASES
23476  |  BRD4  |  DISEASES
64135  |  IFIH1  |  DISEASES
5775  |  PTPN4  |  DISEASES
4036  |  LRP2  |  DISEASES
3938  |  LCT  |  DISEASES
6476  |  SI  |  DISEASES
5443  |  POMC  |  DISEASES
10686  |  CLDN16  |  DISEASES
1062  |  CENPE  |  DISEASES
56302  |  TRPV5  |  DISEASES
5286  |  PIK3C2A  |  DISEASES
6523  |  SLC5A1  |  DISEASES
593  |  BCKDHA  |  DISEASES
57333  |  RCN3  |  DISEASES
5972  |  REN  |  DISEASES
55909  |  BIN3  |  DISEASES
5741  |  PTH  |  DISEASES
23250  |  ATP11A  |  DISEASES
56172  |  ANKH  |  DISEASES
760  |  CA2  |  DISEASES
9056  |  SLC7A7  |  DISEASES
340665  |  CYP26C1  |  DISEASES
392255  |  GDF6  |  DISEASES
56683  |  C21orf59  |  DISEASES
1636  |  ACE  |  DISEASES
486  |  FXYD2  |  DISEASES
81570  |  CLPB  |  DISEASES
84661  |  DPY30  |  DISEASES
9497  |  SLC4A7  |  DISEASES
213  |  ALB  |  DISEASES
149461  |  CLDN19  |  DISEASES
4982  |  TNFRSF11B  |  DISEASES
7486  |  WRN  |  DISEASES
3251  |  HPRT1  |  DISEASES
9071  |  CLDN10  |  DISEASES
50964  |  SOST  |  DISEASES
189  |  AGXT  |  DISEASES
337876  |  CHSY3  |  DISEASES
7343  |  UBTF  |  DISEASES
3479  |  IGF1  |  DISEASES
3643  |  INSR  |  DISEASES
10736  |  SIX2  |  DISEASES
7369  |  UMOD  |  DISEASES
83886  |  PRSS27  |  DISEASES
56246  |  MRAP  |  DISEASES
5340  |  PLG  |  DISEASES
9380  |  GRHPR  |  DISEASES
3291  |  HSD11B2  |  DISEASES
122664  |  TPPP2  |  DISEASES
4691  |  NCL  |  DISEASES
8851  |  CDK5R1  |  DISEASES
1730  |  DIAPH2  |  DISEASES
6569  |  SLC34A1  |  DISEASES
5745  |  PTH1R  |  DISEASES
56975  |  FAM20C  |  DISEASES
2200  |  FBN1  |  DISEASES
219285  |  SAMD9L  |  DISEASES
164684  |  WBP2NL  |  DISEASES
4496  |  MT1H  |  DISEASES
796  |  CALCA  |  DISEASES
1187  |  CLCNKA  |  DISEASES
153201  |  SLC36A2  |  DISEASES
1058  |  CENPA  |  DISEASES
123283  |  TARSL2  |  DISEASES
84239  |  ATP13A4  |  DISEASES
23562  |  CLDN14  |  DISEASES
6575  |  SLC20A2  |  DISEASES
8805  |  TRIM24  |  DISEASES
1811  |  SLC26A3  |  DISEASES
302  |  ANXA2  |  DISEASES
120  |  ADD3  |  DISEASES
51592  |  TRIM33  |  DISEASES
55503  |  TRPV6  |  DISEASES
51150  |  SDF4  |  DISEASES
140803  |  TRPM6  |  DISEASES
5167  |  ENPP1  |  DISEASES
7150  |  TOP1  |  DISEASES
10861  |  SLC26A1  |  DISEASES
10724  |  MGEA5  |  DISEASES
4514  |  MT-CO3  |  DISEASES
56259  |  CTNNBL1  |  DISEASES
142680  |  SLC34A3  |  DISEASES
84947  |  SERAC1  |  DISEASES
55811  |  ADCY10  |  DISEASES
6708  |  SPTA1  |  DISEASES
632  |  BGLAP  |  DISEASES
80222  |  TARS2  |  DISEASES
54805  |  CNNM2  |  DISEASES
112817  |  HOGA1  |  DISEASES
2778  |  GNAS  |  DISEASES
4952  |  OCRL  |  DISEASES
81030  |  ZBP1  |  DISEASES
7809  |  BSND  |  DISEASES
860  |  RUNX2  |  DISEASES
2030  |  SLC29A1  |  DISEASES
310  |  ANXA7  |  DISEASES
22943  |  DKK1  |  DISEASES
249  |  ALPL  |  DISEASES
79695  |  GALNT12  |  DISEASES
81569  |  ACTL8  |  DISEASES
1188  |  CLCNKB  |  DISEASES
1184  |  CLCN5  |  DISEASES
1041  |  CDSN  |  DISEASES
5394  |  EXOSC10  |  DISEASES
116085  |  SLC22A12  |  DISEASES
8029  |  CUBN  |  DISEASES
11332  |  ACOT7  |  DISEASES
9356  |  SLC22A6  |  DISEASES
2710  |  GK  |  DISEASES
5251  |  PHEX  |  DISEASES
387755  |  INSC  |  DISEASES
1059  |  CENPB  |  DISEASES
6239  |  RREB1  |  DISEASES
54809  |  SAMD9  |  DISEASES
9365  |  KL  |  DISEASES
795  |  S100G  |  DISEASES
56897  |  WRNIP1  |  DISEASES
1183  |  CLCN4  |  DISEASES
6557  |  SLC12A1  |  DISEASES
83942  |  TSSK1B  |  DISEASES
3758  |  KCNJ1  |  DISEASES
2591  |  GALNT3  |  DISEASES
114805  |  GALNT13  |  DISEASES
6696  |  SPP1  |  DISEASES
65010  |  SLC26A6  |  DISEASES
5744  |  PTHLH  |  DISEASES
23515  |  MORC3  |  DISEASES
6611  |  SMS  |  DISEASES
340351  |  AGBL3  |  DISEASES
197  |  AHSG  |  DISEASES
6559  |  SLC12A3  |  DISEASES
5334  |  PLCL1  |  DISEASES
2821  |  GPI  |  DISEASES
2668  |  GDNF  |  DISEASES
10682  |  EBP  |  DISEASES
3712  |  IVD  |  DISEASES
846  |  CASR  |  DISEASES
5863  |  RGL2  |  DISEASES
3035  |  HARS  |  DISEASES
83857  |  TMTC1  |  DISEASES
7421  |  VDR  |  DISEASES
8972  |  MGAM  |  DISEASES
567  |  B2M  |  DISEASES
54757  |  FAM20A  |  DISEASES
6625  |  SNRNP70  |  DISEASES
Locus(Waiting for update.)
Disease ID 907
Disease calcinosis
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:31)
HP:0002725  |  Systemic lupus erythematosus  |  4
HP:0003202  |  Neurogenic muscle atrophy, especially in the lower limbs  |  3
HP:0012531  |  Pain  |  3
HP:0100324  |  Progressive systemic scleroderma  |  2
HP:0002905  |  Hyperphosphatemia  |  2
HP:0001873  |  Low platelet count  |  1
HP:0001370  |  Rheumatoid arthritis  |  1
HP:0003765  |  Psoriasis  |  1
HP:0003198  |  Myopathic changes  |  1
HP:0000365  |  Hearing impairment  |  1
HP:0001369  |  Arthritis  |  1
HP:0003416  |  Spinal canal stenosis  |  1
HP:0002664  |  Neoplasia  |  1
HP:0030880  |  Raynaud phenomenon  |  1
HP:0011034  |  Amyloid disease  |  1
HP:0000843  |  Hyperparathyroidism  |  1
HP:0002076  |  Migraine headaches  |  1
HP:0003774  |  End-stage renal failure  |  1
HP:0002071  |  Extrapyramidal dysfunction  |  1
HP:0002633  |  Vasculitis  |  1
HP:0005293  |  Venous insufficiency  |  1
HP:0000083  |  Renal insufficiency  |  1
HP:0005901  |  Chronic recurrent multifocal osteomyelitis  |  1
HP:0000867  |  Secondary hyperparathyroidism  |  1
HP:0000829  |  Hypoparathyroidism  |  1
HP:0002094  |  Dyspnea  |  1
HP:0003072  |  Hypercalcemia  |  1
HP:0012622  |  Chronic kidney disease  |  1
HP:0001945  |  Fever  |  1
HP:0000105  |  Renal enlargement  |  1
HP:0000407  |  sensorineural hearing loss  |  1
Disease ID 907
Disease calcinosis
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:2)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs137853090240383922591GALNT3umls:C0006663BeFreeFrom intriguing findings, T359K-GALNT3 was simulated with high contribution for disease susceptibility (tumor calcinosis) as compared to its partner variant T272K (Ichikawa et al.0.1284444932013GALNT32165761928GT,A
rs137853091240383922591GALNT3umls:C0006663BeFreeFrom intriguing findings, T359K-GALNT3 was simulated with high contribution for disease susceptibility (tumor calcinosis) as compared to its partner variant T272K (Ichikawa et al.0.1284444932013GALNT32165758862GT
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:9)
CUI ChemicalName ChemicalID CasRN DiseaseName DiseaseID DirectEvidence PubMedIDs
C0006663cyclosporineD01657259865-13-3calcinosisMESH:D002114marker/mechanism8080589
C0006663calcitriolD00211732222-06-3calcinosisMESH:D002114marker/mechanism16491297
C0006663diltiazemD00411042399-41-7calcinosisMESH:D002114therapeutic7488286
C0006663foscarnetD0172454428-95-9calcinosisMESH:D002114therapeutic24561004
C0006663methotrexateD0087271959/5/2calcinosisMESH:D002114marker/mechanism1053935
C0006663mitomycinD0166851950/7/7calcinosisMESH:D002114marker/mechanism1454338
C0006663nicotineD009538-calcinosisMESH:D002114marker/mechanism16378124
C0006663cholecalciferolD00276267-97-0calcinosisMESH:D002114marker/mechanism12803500
C0006663vitamin eD0148101406-18-4calcinosisMESH:D002114marker/mechanism11913585
FDA approved drug and dosage information(Total Drugs:1)
DiseaseID Drug_name active_ingredients strength Dosage Form/Route Marketing Status TE code RLD RS
MESH:D002114calcijexcalcitriol0.001MG/ML Federal Register determination that product was not discontinued or withdrawn for safety or efficacy reasonsINJECTABLE;INJECTIONDiscontinuedNoneYesNo
FDA labeling changes(Total Drugs:1)
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:D00211411/16/2001calcijexcalcitriolManagement 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'