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).

Autosomal dominant hypocalcemia 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 autosomal dominant hypocalcemia 1 has been reported in the published literature.

Phenotype severity distribution: 2 always present features, 1 very common feature, 5 common features.

No clinical trials have been registered for autosomal dominant hypocalcemia 1.

23 publications have been identified in PubMed for autosomal dominant hypocalcemia 1. Research spans Review / Meta-Analysis (35%), Case Report / Case Series (30%), and Epidemiology / Natural History (13%).

Recent Publications

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

• Bibik E (2026). [PMID: 41952051](https://pubmed.ncbi.nlm.nih.gov/41952051/). *Clin Endocrinol (Oxf)*. [Case Report / Case Series]

• Harada D (2026). [PMID: 41732805](https://pubmed.ncbi.nlm.nih.gov/41732805/). *J Bone Miner Res*. [Review / Meta-Analysis]

• Gao Y (2026). [PMID: 41801666](https://pubmed.ncbi.nlm.nih.gov/41801666/). *J Endocrinol Invest*. [Case Report / Case Series]

• Fu M (2026). [PMID: 42181181](https://pubmed.ncbi.nlm.nih.gov/42181181/). *Front Endocrinol (Lausanne)*. [Case Report / Case Series]

• Vincent A (2026). [PMID: 42161334](https://pubmed.ncbi.nlm.nih.gov/42161334/). *Eur J Endocrinol*. [Epidemiology / Natural History]

• Mouandilmadji DM (2026). [PMID: 42153160](https://pubmed.ncbi.nlm.nih.gov/42153160/). *Pan Afr Med J*. [Case Report / Case Series]

• Della Valentina S (2026). [PMID: 42223909](https://pubmed.ncbi.nlm.nih.gov/42223909/). *J Endocrinol Invest*. [Case Report / Case Series]

• Charoenngam N (2025). [PMID: 39484850](https://pubmed.ncbi.nlm.nih.gov/39484850/). *J Clin Endocrinol Metab*. [Review / Meta-Analysis]

• Du W (2025). [PMID: 39413244](https://pubmed.ncbi.nlm.nih.gov/39413244/). *J Clin Endocrinol Metab*. [Epidemiology / Natural History]