Details of Disease

General Information of Disease (ID: DISTIR0K)

Disease Name Familial hypocalciuric hypercalcemia 3
Synonyms
familial benign hypercalcemia, Oklahoma variant; familial benign hypercalcemia, type 3; hypercalcemia, familial benign, type 3; FBH3; hypocalciuric hypercalcemia, familial, type 3; hypocalciuric hypercalcemia, familial, type III; hypercalcemia, familial benign, Oklahoma type; FBHOk; hypocalciuric hypercalcemia type III; HHC3; AP2S1 familial hypocalciuric hypercalcemia; familial hypocalciuric hypercalcemia type 3; hpocalciuric hypercalcemia, type III; FHH type 3; familial hypocalciuric hypercalcemia caused by mutation in AP2S1
Definition Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene.
Disease Hierarchy
DIS0K7FK: Familial hypocalciuric hypercalcemia
DISTIR0K: Familial hypocalciuric hypercalcemia 3
Disease Identifiers
MONDO ID
MONDO_0010926
MESH ID
C537147
UMLS CUI
C1833372
OMIM ID
600740
MedGen ID
322173
Orphanet ID
101050

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
AP2S1 OTEV2XGW Strong Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.