familial hypocalciuric hypercalcemia

Summary
Synonym
  • FBH
  • FBHH
  • FHH
  • familial benign hypercalcemia
  • familial benign hypocalciuric hypercalcemia
Definition
A hypercalcemia characterized by autosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion.
Super Class
autosomal dominant disease hypercalcemia inherited metabolic disorder
External Links
Disease Ontology
DOID:0060699
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1591 CYP24A1 cytochrome P450 family 24 subfamily A member 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024