CASR encodes calcium sensing receptor (1,078 aa). G-protein-coupled receptor that senses changes in the extracellular concentration of calcium ions and plays a key role in maintaining calcium homeostasis. Highest expression in Kidney Medulla (18.1 TPM) and Pancreas (3.5 TPM).

Familial hypocalciuric hypercalcemia 1 is caused by mutations in the CASR gene on chromosome 3.

The CASR protein participates in CASR:CASR agonists pathway.

CASR is classified as a druggable target (Cell Surface, Clinically Actionable, Druggable Genome, and G Protein Coupled Receptor categories) with score 6.1.

Genetic testing for CASR is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for familial hypocalciuric hypercalcemia 1 has been reported in the published literature.

Phenotype severity distribution: 3 always present features.

Estimated prevalence: 1-9 in 100,000 (Uncommon).

No clinical trials have been registered for familial hypocalciuric hypercalcemia 1.

38 publications have been identified in PubMed for familial hypocalciuric hypercalcemia 1. Research spans Case Report / Case Series (47%), Basic Science / Preclinical (24%), and Review / Meta-Analysis (11%).

Recent Publications

• Nava Suarez CC (2026). [PMID: 29083672](https://pubmed.ncbi.nlm.nih.gov/29083672/). *Unknown Journal*. [Review / Meta-Analysis]

• Kołbuc M (2026). [PMID: 41501259](https://pubmed.ncbi.nlm.nih.gov/41501259/). *Pediatric nephrology (Berlin, Germany)*. [Gene Therapy / Novel Therapeutics]

• Tian Y (2026). [PMID: 41624914](https://pubmed.ncbi.nlm.nih.gov/41624914/). *Genes & diseases*. [Basic Science / Preclinical]

• Chondrogianni ME (2026). [PMID: 40760326](https://pubmed.ncbi.nlm.nih.gov/40760326/). *Hormones (Athens)*. [Review / Meta-Analysis]

• Kou L (2026). [PMID: 41920387](https://pubmed.ncbi.nlm.nih.gov/41920387/). *Endocrine*. [Clinical Trial Publication]

• Tao X (2026). [PMID: 41852233](https://pubmed.ncbi.nlm.nih.gov/41852233/). *J Int Med Res*. [Case Report / Case Series]

• Yatsuga S (2026). [PMID: 42006556](https://pubmed.ncbi.nlm.nih.gov/42006556/). *Bone Rep*. [Case Report / Case Series]

• Kopanos S (2026). [PMID: 42035203](https://pubmed.ncbi.nlm.nih.gov/42035203/). *J Med Case Rep*. [Case Report / Case Series]

• Lin J (2026). [PMID: 42038813](https://pubmed.ncbi.nlm.nih.gov/42038813/). *JBMR Plus*. [Case Report / Case Series]

• Woerde DJ (2026). [PMID: 41742529](https://pubmed.ncbi.nlm.nih.gov/41742529/). *Journal of veterinary internal medicine*. [Case Report / Case Series]