Details of Disease

Disease Name

Hypocalcemia

Disease Class

5B5K: Mineral deficiency

Disease Hierarchy

DIS01GPL: Grass pollen hypersensitivity

DISTCK2W: Hypocalcemia

ICD-11

ICD-11: 5B5K.1

ICD-10

ICD-10: E58

Expand ICD-10

E21,E83

Expand ICD-9

252.0,275.41

Disease Identifiers

MONDO ID

MONDO_0018543

MESH ID

D006996

UMLS CUI

C4048195

MedGen ID

884527

HPO ID

HP:0002901

Orphanet ID

428

SNOMED CT ID

711152006

General Information of Disease (ID: DISTCK2W)

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Dihydrotachysterol	DMFB97P	Approved	Small molecular drug	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CLCNKB	TTR68GQ	Limited	Genetic Variation	[2]
CASR	TTBUYHA	moderate	Biomarker	[3]
ADH1A	TT5AHZ0	Strong	Biomarker	[4]
GNA11	TTSRXJW	Strong	Genetic Variation	[4]
PTH	TT6F7GZ	Strong	Biomarker	[5]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ADH1B	DEEN9RD	Strong	Biomarker	[4]
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This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BSND	OTYWZWPD	Limited	Genetic Variation	[2]
AMELX	OTIN26MM	Strong	Biomarker	[6]
AP2S1	OTEV2XGW	Strong	Genetic Variation	[7]
BGLAP	OTK1YLWQ	Strong	Biomarker	[8]
NPS	OTEG25A2	Strong	Biomarker	[9]
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References

1	Drugs@FDA. U.S. Food and Drug Administration. U.S. Department of Health & Human Services. 2015
2	Bartter's and Gitelman's syndromes: from gene to clinic.Nephron Physiol. 2004;96(3):p65-78. doi: 10.1159/000076752.
3	Bone Matrix Mineralization in Patients With Gain-of-Function Calcium-Sensing Receptor Mutations Is Distinctly Different From that in Postsurgical Hypoparathyroidism.J Bone Miner Res. 2019 Apr;34(4):661-668. doi: 10.1002/jbmr.3638. Epub 2019 Jan 15.
4	Activating Mutations of the G-protein Subunit ?1 Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2.J Clin Endocrinol Metab. 2020 Mar 1;105(3):952-63. doi: 10.1210/clinem/dgz251.
5	Identification of a G-Protein Subunit-11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2).J Bone Miner Res. 2016 Jun;31(6):1207-14. doi: 10.1002/jbmr.2797.
6	Changes in amelogenesis in the rat incisor following short-term hypocalcaemia.Arch Oral Biol. 2005 Feb;50(2):185-8. doi: 10.1016/j.archoralbio.2004.11.022.
7	Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcemia type 3 (ADH3).J Clin Endocrinol Metab. 2014 Jul;99(7):E1300-5. doi: 10.1210/jc.2013-3909. Epub 2014 Apr 7.
8	The response of circulating parameters of bone mineral metabolism to ethanol- and EDTA-induced hypocalcemia in the rat.Bone Miner. 1990 Jan;8(1):1-6. doi: 10.1016/0169-6009(91)90135-m.
9	The Calcilytic Agent NPS 2143 Rectifies Hypocalcemia in a Mouse Model With an Activating Calcium-Sensing Receptor (CaSR) Mutation: Relevance to Autosomal Dominant Hypocalcemia Type 1 (ADH1).Endocrinology. 2015 Sep;156(9):3114-21. doi: 10.1210/en.2015-1269. Epub 2015 Jun 8.