What is ADH1?
Autosomal dominant hypocalcemia type 1 (ADH1) is a rare genetic condition characterized by low serum calcium caused by gain-of-function variants in the calcium-sensing receptor gene (CASR).1,2
Low serum calcium. Low or inappropriately normal parathyroid hormone (PTH). High urine calcium. These clues can point to something deeper. When surgery isn’t the cause, genetic testing can help confirm an ADH1 diagnosis and provide clarity. Watch for the signs; test to confirm.1-3
Suspect & Detect ADH1
Order no-cost genetic test
Without genetic testing, ADH1 cannot be reliably distinguished from other causes of hypoparathyroidism. No-cost genetic testing is available to help confirm a suspected diagnosis.
Understanding ADH1 at a glance
Explore the key characteristics, clinical impact, and diagnostic importance of this rare genetic condition.
Impact of disease
Because ADH1 is rare, patients often receive an incomplete diagnosis that may lead to1:
- Years of ineffective management
- Increased risk of serious kidney damage
Importance of genetic testing
Accurate, genetic confirmation of ADH1 is vital to1:
- Inform disease management
- Identify family members who may also be affected
Living with ADH1
Explore patient journeys to diagnosis and the impact of ADH1 on their lives.
Stay ahead of emerging ADH1 data
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References: 1. 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. 2. Mannstadt M, Cianferotti L, Gafni RI, et al. Hypoparathyroidism: genetics and diagnosis. J Bone Miner Res. 2022;37(12):2615-2629. 3. Roszko KL, Bi RD, Mannstadt M. Autosomal dominant hypocalcemia (hypoparathyroidism) types 1 and 2. Front Physiol. 2016;7:458.