Details of Disease

General Information of Disease (ID: DISHHLZR)

Disease Name Hypercalciuria, absorptive, 2
Synonyms hypercalciuria, familial idiopathic; HCA2; hypercalciuria, absorptive, 2; hypercalciuria, absorptive, susceptibility to; hypercalciuria, absorptive, type 2
Disease Hierarchy
DISYKSRF: Genetic disease
DIS0HU8N: Urinary tract disease
DISHHLZR: Hypercalciuria, absorptive, 2
Disease Identifiers
MONDO ID
MONDO_0007748
MESH ID
C562790
UMLS CUI
C0342639
OMIM ID
143870
MedGen ID
137974
SNOMED CT ID
237886009

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
ADCY10 OTYSTB0R Strong Autosomal dominant [1]
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References

1 Identification and characterization of a gene with base substitutions associated with the absorptive hypercalciuria phenotype and low spinal bone density. J Clin Endocrinol Metab. 2002 Apr;87(4):1476-85. doi: 10.1210/jcem.87.4.8300.