Discover the root cause: Diagnose ADH1 a leading cause of Nonsurgical Hypoparathyroidism Discover more

Autosomal dominant hypocalcemia type 1 (ADH1) is a rare genetic condition characterized by low blood calcium levels caused by variants in the calcium-sensing receptor gene (CASR)1

Impact of Disease

ADH1 can lead to multiple symptoms that can significantly impact the psychological well-being and everyday life of patients2-4

Importance of Genetic Testing

Patients with ADH1 can be difficult to identify based on symptoms alone and often face a prolonged delay in achieving a complete diagnosis2

Patient Perspectives

Explore patients' stories, including their experiences, challenges, and successes, to foster a supportive community

Stay informed about our research on ADH1

References

1. Mannstadt M, Cianferotti L, Gafni RI, et al. Hypoparathyroidism: genetics and diagnosis. J Bone Miner Res. 2022;37(12):2615-2629. doi:10.1002/jbmr.4667
2. Roszko KL, Stapleton Smith LM, Sridhar AV, et al. Autosomal dominant hypocalcemia type 1: a systematic review. J Bone Miner Res. 2022;37(10):1926-1935. doi:10.1002/jbmr.4659
3. Siggelkow H, Clarke BL, Germak J, et al. Burden of illness in not adequately controlled chronic hypoparathyroidism: findings from a 13-country patient and caregiver survey. Clin Endocrinol (Oxf). 2020;92(2):159-168. doi:10.1111/cen.14128
4. Bjornsdottir S, Ing S, Mitchell DM, et al. Epidemiology and financial burden of a dult chronic hypoparathyroidism. J Bone Miner Res. 2022;37(12):2602-2614. doi:10.1002/jbmr.4675