familial hypocalciuric hypercalcemia 1

Summary
Synonym
  • FHH type 1
  • HHC1
  • familial benign hypercalcemia 1
  • familial hypocalciuric hypercalcemia type I
  • hypocalciuric hypercalcemia type I
Definition
A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21.
Super Class
familial hypocalciuric hypercalcemia
Disease Ontology
DOID:0060700
Mondo Disease Ontology
ORDO
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
846 CASR calcium sensing receptor
Displaying 1 entry
Gene ID Gene Symbol Description Source
12374 Casr calcium-sensing receptor
Displaying 1 entry
Gene ID Gene Symbol Description Source
24247 Casr calcium-sensing receptor

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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: December 9, 2024