General Information of Disease (ID: DISKQ2K7)

Disease Name Hypercalcaemia
Synonyms hypercalcemia
Disease Class 5B91: Mineral excesses
Definition Abnormally high concentration of calcium in the peripheral blood.
Disease Hierarchy
DISNEQBZ: Disorder of calcium metabolism
DISKQ2K7: Hypercalcaemia
ICD Code
ICD-11
ICD-11: 5B91.0
ICD-9
ICD-9: 275.42
Expand ICD-9
275.42
Disease Identifiers
MONDO ID
MONDO_0001566
MESH ID
D006934
UMLS CUI
C0020437
MedGen ID
5686
HPO ID
HP:0003072
SNOMED CT ID
66931009

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 8 Approved Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
Cholecalciferol DMGU74E Approved Small molecular drug [1]
Clodronate DM9Y6X7 Approved Small molecular drug [2]
Gallium nitrate DMF9O6B Approved Small molecular drug [3]
Ibandronate DM0QZBN Approved Small molecular drug [4]
Incadronate DM3DSVJ Approved Small molecular drug [5]
Pamidronate DMB4AVP Approved Small molecular drug [6]
Plicamycin DM7C8YV Approved Small molecular drug [5]
Zoledronate DMIXC7G Approved Small molecular drug [2]
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⏷ Show the Full List of 8 Drug(s)
This Disease is Treated as An Indication in 1 Investigative Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
Edetic acid DM10D85 Investigative Small molecular drug [7]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 19 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
PPY TTIB95A Limited Biomarker [8]
CALCA TTVSFJW moderate Genetic Variation [9]
CALCR TTLWS2O moderate Therapeutic [10]
PTH1R TTFPD47 moderate Genetic Variation [11]
ASRGL1 TT4WT91 Strong Biomarker [12]
GAST TT4LRVO Strong Biomarker [13]
GNA11 TTSRXJW Strong Genetic Variation [14]
HLA-DRB1 TTUXSTW Strong Genetic Variation [15]
IDS TTNY2AP Strong Biomarker [16]
LGMN TTPTWV5 Strong Altered Expression [17]
PTH2R TTEPJL5 Strong Altered Expression [18]
RET TT4DXQT Strong Genetic Variation [19]
S100A12 TTQ4ESF Strong Altered Expression [20]
SLC12A1 TTS087L Strong Genetic Variation [21]
TNFRSF11B TT2CJ75 Strong Genetic Variation [22]
TNFSF11 TT9E8HR Strong Biomarker [23]
TRPC3 TTNVC34 Strong Altered Expression [24]
TRPV6 TTBK14N Strong Biomarker [25]
ALPL TTMR5UV Definitive Biomarker [26]
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⏷ Show the Full List of 19 DTT(s)
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC34A1 DT42EWA Limited Genetic Variation [27]
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This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
CYP27B1 DE3FYEM moderate Altered Expression [28]
NAT10 DEZV4AP Strong Biomarker [12]
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This Disease Is Related to 27 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AP2S1 OTEV2XGW Limited Genetic Variation [29]
ELN OTFSO7PG Limited Genetic Variation [30]
HLF OTTRK9XN Limited Genetic Variation [31]
SPINK1 OTSUVAL2 Limited Genetic Variation [32]
MEN1 OTN6U6V0 moderate Biomarker [33]
AFG3L2 OTRPMAUX Strong CausalMutation [34]
ALPP OTZU4G9W Strong Biomarker [12]
AQP2 OTQLBKK6 Strong Biomarker [35]
ATRNL1 OTY5JUX2 Strong Biomarker [12]
BGLAP OTK1YLWQ Strong Biomarker [36]
CCL27 OTUZYC61 Strong Biomarker [12]
CCNDBP1 OTBWG1M0 Strong Biomarker [37]
CLDN14 OTS7GKOI Strong Biomarker [38]
DERL2 OTI3TUUZ Strong Biomarker [39]
FKBP6 OTDFQV81 Strong Genetic Variation [40]
HLA-DRB3 OT5PM9N7 Strong Biomarker [41]
KL OTD4VWU6 Strong Altered Expression [42]
MAU2 OTALDF8Q Strong Biomarker [43]
MIP OTEBLU3E Strong Biomarker [44]
OSCP1 OTZ4IFGJ Strong Biomarker [45]
PDLIM3 OTVXQC81 Strong Biomarker [12]
PTRH1 OTOAOS93 Strong Biomarker [46]
SCNN1G OTSJYQVQ Strong Biomarker [47]
SEPTIN4 OTD16B30 Strong Biomarker [48]
TRPV5 OTWF4L0U Strong Biomarker [49]
BAZ1B OTD5KR2J Definitive Biomarker [50]
GCM2 OTSKNPTI Definitive Genetic Variation [51]
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⏷ Show the Full List of 27 DOT(s)

References

1 Cholecalciferol FDA Label
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3 Drug information of Gallium nitrate, 2008. eduDrugs.
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6 URL: http://www.guidetopharmacology.org Nucleic Acids Res. 2015 Oct 12. pii: gkv1037. The IUPHAR/BPS Guide to PHARMACOLOGY in 2016: towards curated quantitative interactions between 1300 protein targets and 6000 ligands. (Ligand id: 7259).
7 Experimental hypercalcaemia and whole blood clotting. J Clin Pathol. 1973 Aug;26(8):616-9.
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12 The chloride/phosphate ratio combined with alkaline phosphatase as a valuable predictive marker for primary hyperparathyroidism in Chinese individuals.Sci Rep. 2017 Jul 7;7(1):4868. doi: 10.1038/s41598-017-05183-6.
13 Multiple endocrine neoplasia type 1 (MEN 1) is associated with an increased prevalence of diabetes mellitus and impaired fasting glucose.Clin Endocrinol (Oxf). 2006 Aug;65(2):163-8. doi: 10.1111/j.1365-2265.2006.02563.x.
14 Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss-of-Function G(11) Mutation.J Bone Miner Res. 2018 Jan;33(1):32-41. doi: 10.1002/jbmr.3241. Epub 2017 Sep 22.
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16 Case report: acute clinical presentation and neonatal management of primary hyperparathyroidism due to a novel CaSR mutation.BMC Pediatr. 2018 Oct 30;18(1):340. doi: 10.1186/s12887-018-1319-0.
17 Identification of human asparaginyl endopeptidase (legumain) as an inhibitor of osteoclast formation and bone resorption.J Biol Chem. 1999 Sep 24;274(39):27747-53. doi: 10.1074/jbc.274.39.27747.
18 Mental Effects of Excess Parathyroid Hormone in Hemodialysis Patients: A Possible Role for Parathyroid 2 Hormone Receptor?.Ther Apher Dial. 2020 Jun;24(3):285-289. doi: 10.1111/1744-9987.13429. Epub 2019 Sep 11.
19 Primary hyperparathyroidism as the first clinical manifestation of multiple endocrine neoplasia type 2A in a 5-year-old child.Thyroid. 2011 May;21(5):547-50. doi: 10.1089/thy.2010.0336. Epub 2011 Mar 30.
20 Characterization of the calcitonin/CGRP gene in Williams syndrome.Am J Med Genet. 1991 Apr 1;39(1):28-33. doi: 10.1002/ajmg.1320390108.
21 A novel SLC12A1 gene mutation associated with hyperparathyroidism, hypercalcemia, nephrogenic diabetes insipidus, and nephrocalcinosis in four patients.Bone. 2017 Apr;97:121-125. doi: 10.1016/j.bone.2017.01.011. Epub 2017 Jan 14.
22 Juvenile Paget's disease with heterozygous duplication within TNFRSF11A encoding RANK.Bone. 2014 Nov;68:153-61. doi: 10.1016/j.bone.2014.07.019. Epub 2014 Jul 23.
23 Acute hypercalcemia and excessive bone resorption following anti-RANKL withdrawal: Case report and brief literature review.Bone. 2019 Mar;120:482-486. doi: 10.1016/j.bone.2018.12.012. Epub 2018 Dec 17.
24 Williams-Beuren syndrome hypercalcemia: is TRPC3 a novel mediator in calcium homeostasis?.Pediatrics. 2012 Jun;129(6):e1626-30. doi: 10.1542/peds.2011-2507. Epub 2012 May 7.
25 Activation of the calcium sensing receptor attenuates TRPV6-dependent intestinal calcium absorption.JCI Insight. 2019 Apr 23;5(11):e128013. doi: 10.1172/jci.insight.128013.
26 Hypercalcaemia in a Patient with 2p13.2-p16.1 Duplication.Horm Res Paediatr. 2016;85(3):213-8. doi: 10.1159/000442747. Epub 2015 Dec 17.
27 Rare Cause of Infantile Hypercalcemia: A Novel Mutation in the SLC34A1 Gene.Horm Res Paediatr. 2019;91(4):278-284. doi: 10.1159/000492899. Epub 2018 Sep 18.
28 Malakoplakia as a cause of severe hypercalcemia through ectopic 25-hydroxyvitamin D3 1-alpha-hydroxylase expression: A case report.Medicine (Baltimore). 2018 Oct;97(40):e12090. doi: 10.1097/MD.0000000000012090.
29 Cinacalcet Treatment in an Adolescent With Concurrent 22q11.2 Deletion Syndrome and Familial Hypocalciuric Hypercalcemia Type 3 Caused by AP2S1 Mutation.J Clin Endocrinol Metab. 2015 Jul;100(7):2515-8. doi: 10.1210/jc.2015-1518. Epub 2015 May 20.
30 Delineation of the common critical region in Williams syndrome and clinical correlation of growth, heart defects, ethnicity, and parental origin.Am J Med Genet. 1998 Jun 16;78(1):82-9. doi: 10.1002/(sici)1096-8628(19980616)78:1<82::aid-ajmg17>3.0.co;2-k.
31 Hypercalcemia in childhood acute lymphoblastic leukemia: frequent implication of parathyroid hormone-related peptide and E2A-HLF from translocation 17;19.Leukemia. 2007 Feb;21(2):288-96. doi: 10.1038/sj.leu.2404496. Epub 2006 Dec 21.
32 Cinacalcet sustainedly prevents pancreatitis in a child with a compound heterozygous SPINK1/AP2S1 mutation.Pancreatology. 2019 Sep;19(6):801-804. doi: 10.1016/j.pan.2019.07.045. Epub 2019 Jul 30.
33 Parental Multiple Endocrine Neoplasia Type 1 (MEN 1) Is Associated with Increased Offspring Childhood Mortality.J Clin Endocrinol Metab. 2020 Apr 1;105(4):dgz231. doi: 10.1210/clinem/dgz231.
34 Missense mutations in the AFG3L2 proteolytic domain account for ?1.5% of European autosomal dominant cerebellar ataxias. Hum Mutat. 2010 Oct;31(10):1117-24. doi: 10.1002/humu.21342.
35 Autophagy and renal epithelial transport: eat to survive.Kidney Int. 2017 May;91(5):1003-1005. doi: 10.1016/j.kint.2017.01.033.
36 Comparative prospective study on the presentation of normocalcemic primary hyperparathyroidism. Is it more aggressive than the hypercalcemic form?.Am J Surg. 2020 Jan;219(1):150-153. doi: 10.1016/j.amjsurg.2019.10.032. Epub 2019 Oct 22.
37 A tumor-secreted protein associated with human hypercalcemia of malignancy. Biology and molecular biology.Ann N Y Acad Sci. 1988;548:137-45. doi: 10.1111/j.1749-6632.1988.tb18800.x.
38 Claudins and mineral metabolism.Curr Opin Nephrol Hypertens. 2016 Jul;25(4):308-13. doi: 10.1097/MNH.0000000000000239.
39 MIL-125-NH(2)@TiO(2) Core-Shell Particles Produced by a Post-Solvothermal Route for High-Performance Photocatalytic H(2) Production.ACS Appl Mater Interfaces. 2018 May 16;10(19):16418-16423. doi: 10.1021/acsami.8b01462. Epub 2018 May 2.
40 A novel human gene FKBP6 is deleted in Williams syndrome.Genomics. 1998 Sep 1;52(2):130-7. doi: 10.1006/geno.1998.5412.
41 HLA-DRB1*1101: a significant risk factor for sarcoidosis in blacks and whites.Am J Hum Genet. 2003 Oct;73(4):720-35. doi: 10.1086/378097. Epub 2003 Aug 20.
42 Impact of Altered Mineral Metabolism on Pathological Cardiac Remodeling in Elevated Fibroblast Growth Factor 23.Front Endocrinol (Lausanne). 2018 Jun 21;9:333. doi: 10.3389/fendo.2018.00333. eCollection 2018.
43 Cancer cells responsible for humoral hypercalcemia express mRNA encoding a secreted form of ODF/TRANCE that induces osteoclast formation.Biochem Biophys Res Commun. 2000 Mar 16;269(2):532-6. doi: 10.1006/bbrc.2000.2314.
44 Over-expression of CCL3 MIP-1alpha in a blastoid mantle cell lymphoma with hypercalcemia.Eur J Haematol. 2010 May;84(5):448-52. doi: 10.1111/j.1600-0609.2009.01405.x. Epub 2010 Dec 24.
45 The in vitro evaluation of 25-hydroxyvitamin D3 and 19-nor-1alpha,25-dihydroxyvitamin D2 as therapeutic agents for prostate cancer.Clin Cancer Res. 2000 Mar;6(3):901-8.
46 Advances in the treatment of hypoparathyroidism with PTH 1-34.Bone. 2019 Mar;120:535-541. doi: 10.1016/j.bone.2018.09.018. Epub 2018 Sep 21.
47 Effect of combination treatment with a vitamin D analog (OCT) and a bisphosphonate (AHPrBP) in a nude mouse model of cancer-associated hypercalcemia.J Bone Miner Res. 1998 Sep;13(9):1378-83. doi: 10.1359/jbmr.1998.13.9.1378.
48 MART-10, a novel vitamin D analog, inhibits head and neck squamous carcinoma cells growth through cell cycle arrest at G0/G1 with upregulation of p21 and p27 and downregulation of telomerase.J Steroid Biochem Mol Biol. 2013 Nov;138:427-34. doi: 10.1016/j.jsbmb.2013.09.002. Epub 2013 Sep 14.
49 Structure-based characterization of novel TRPV5 inhibitors.Elife. 2019 Oct 25;8:e49572. doi: 10.7554/eLife.49572.
50 Importance of dietary calcium and vitamin D in the treatment of hypercalcaemia in Williams-Beuren syndrome.J Pediatr Endocrinol Metab. 2014 Jul;27(7-8):757-61. doi: 10.1515/jpem-2013-0229.
51 New Concepts About Familial Isolated Hyperparathyroidism.J Clin Endocrinol Metab. 2019 Sep 1;104(9):4058-4066. doi: 10.1210/jc.2018-02789.