Details of Disease | DrugMAP

General Information of Disease (ID: DISM33SF)

Disease Name	Autosomal dominant hypocalcemia 2
Synonyms	hypocalcemia, autosomal dominant 2; autosomal dominant hypocalcemia type 2; hypocalcemia, autosomal dominant type 2; HYPOC2
Definition	An autosomal dominant hypocalcemia disease that has material basis in heterozygous mutation in the GNA11 gene on chromosome 19p13.
Disease Hierarchy	DISTCK2W: Hypocalcemia DISM33SF: Autosomal dominant hypocalcemia 2
Disease Identifiers	MONDO ID MONDO_0014146 UMLS CUI C3809243 OMIM ID 615361 MedGen ID 815573

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 in AP2S1 cause familial hypocalciuric hypercalcemia type 3. Nat Genet. 2013 Jan;45(1):93-7. doi: 10.1038/ng.2492. Epub 2012 Dec 9.
2	Knockin mouse with mutant G(11) mimics human inherited hypocalcemia and is rescued by pharmacologic inhibitors.JCI Insight. 2017 Feb 9;2(3):e91079. doi: 10.1172/jci.insight.91079.