Details of Disease

General Information of Disease (ID: DISW4TUE)

Disease Name	Autosomal dominant hypocalcemia
Synonyms	hypocalcemia; AD hypocalcemia; hypocalcemia, autosomal dominant
Disease Class	5A50: Hypo-parathyroidism
Definition	Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria.
Disease Hierarchy	DISNEQBZ: Disorder of calcium metabolism DIS85C84: Familial hypoparathyroidism DIS3HIWD: Autosomal dominant disease DISW4TUE: Autosomal dominant hypocalcemia
ICD Code	ICD-11 ICD-11: 5A50.0Y
Disease Identifiers	MONDO ID MONDO_0018543 UMLS CUI C4048195 MedGen ID 884527 Orphanet ID 428 SNOMED CT ID 711152006

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 10 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Calcidiol	DMN4CV5	Approved	Small molecular drug	[1]
Calcitriol	DM8ZVJ7	Approved	Small molecular drug	[2]
Calcium Acetate	DM40MBV	Approved	Small molecular drug	[3]
Calcium Chloride	DMYVFR3	Approved	Small molecular drug	[4]
Calcium Gluceptate	DM05ZXO	Approved	Small molecular drug	[5]
Cholecalciferol	DMGU74E	Approved	Small molecular drug	[6]
Dihydrotachysterol	DMFB97P	Approved	Small molecular drug	[7]
Ergocalciferol	DMHO0AR	Approved	Small molecular drug	[8]
Phytonadione	DM8HDOL	Approved	Small molecular drug	[9]
Teriparatide	DMMC45B	Approved	Peptide	[10]
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⏷ Show the Full List of 10 Drug(s)

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

Drug Name	Drug ID	Highest Status	Drug Type	REF
Encaleret	DMQSPFS	Phase 3	Small molecule	[11]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CASR	TTBUYHA	Supportive	Autosomal dominant	[12]
GNA11	TTSRXJW	Supportive	Autosomal dominant	[13]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CASR	OT2PEJDO	Supportive	Autosomal dominant	[12]
GNA11	OT0K99TO	Supportive	Autosomal dominant	[13]
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References

1	A standard database for drug repositioning. Sci Data. 2017 Mar 14;4:170029.
2	Calcitriol FDA Label
3	Calcium Acetate FDA Label
4	Calcium Chloride FDA Label
5	Calcium Gluceptate FDA Label
6	Cholecalciferol FDA Label
7	Feline thyroidectomy. A comparison of postoperative hypocalcemia associated with three different surgical techniques. Vet Surg. 1987 Sep-Oct;16(5):362-6.
8	Ergocalciferol FDA Label
9	Phytonadione FDA Label
10	Teriparatide FDA Label
11	ClinicalTrials.gov (NCT05680818) CALIBRATE: A Phase 3, Randomized, Open-Label Study Evaluating the Efficacy and Safety of Encaleret Compared to Standard of Care in Participants With Autosomal Dominant Hypocalcemia Type 1 (ADH1). U.S.National Institutes of Health.
12	A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia. J Clin Endocrinol Metab. 1999 Jan;84(1):363-6. doi: 10.1210/jcem.84.1.5385.
13	Mutations affecting G-protein subunit 11 in hypercalcemia and hypocalcemia. N Engl J Med. 2013 Jun 27;368(26):2476-2486. doi: 10.1056/NEJMoa1300253.