Details of Disease | DrugMAP

General Information of Disease (ID: DISBQO80)

Disease Name	Familial hypocalciuric hypercalcemia 2
Synonyms	familial benign hypercalcemia, type 2; hypercalcemia, familial benign, type 2; FBH2; hypocalciuric hypercalcemia, familial, type 2; hypocalciuric hypercalcemia, familial, type II; hypercalcemia, familial benign type 2; FHH type 2; hpocalciuric hypercalcemia, type II; HHC2; familial hypocalciuric hypercalcemia type 2; hypocalciuric hypercalcemia type II
Definition	A familial hypocalciuric hypercalcemia that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.
Disease Hierarchy	DIS0K7FK: Familial hypocalciuric hypercalcemia DISBQO80: Familial hypocalciuric hypercalcemia 2
Disease Identifiers	MONDO ID MONDO_0007792 MESH ID C537146 UMLS CUI C1840347 OMIM ID 145981 MedGen ID 374447 Orphanet ID 101049

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
GNA11	TTSRXJW	Strong	Autosomal dominant	[1]
GNA11	TTSRXJW	Strong	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GNA11	OT0K99TO	Strong	Autosomal dominant	[1]
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References

1	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.
2	A G-protein Subunit-11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2).J Bone Miner Res. 2016 Jun;31(6):1200-6. doi: 10.1002/jbmr.2778. Epub 2016 Feb 6.