Overview
Autosomal dominant hypocalcemia (ADH) is a rare inherited condition in which the body maintains abnormally low levels of calcium in the blood. It is sometimes called "autosomal dominant hypoparathyroidism" or "familial hypocalcemia." The condition is caused by mutations in genes that make the calcium-sensing receptor (CaSR) or related proteins overly sensitive. Normally, the parathyroid glands detect blood calcium levels and release parathyroid hormone (PTH) to raise calcium when it drops too low. In ADH, the calcium sensor is set too high, so the body mistakenly thinks calcium levels are adequate even when they are low. This leads to reduced PTH release and low blood calcium (hypocalcemia). Symptoms can range from mild to severe and often include muscle cramps, tingling or numbness in the hands, feet, and around the mouth, and sometimes seizures. Some people with ADH have few or no symptoms, while others experience significant problems. The kidneys may also be affected, as the overactive calcium sensor in the kidneys causes the body to lose too much calcium in the urine (hypercalciuria), which can lead to kidney stones or kidney calcifications (nephrocalcinosis). Treatment focuses on carefully raising blood calcium levels without worsening calcium loss in the urine. Standard calcium and vitamin D supplements are used cautiously because they can increase the risk of kidney complications. In some cases, synthetic parathyroid hormone (such as recombinant PTH) may be considered. Management requires close monitoring by an endocrinologist to balance calcium levels and protect kidney health.
Also known as:
Key symptoms:
Muscle cramps or spasmsTingling or numbness in hands and feetTingling or numbness around the mouthSeizuresFatigueMuscle twitchingKidney stonesKidney calcifications (nephrocalcinosis)Low blood calcium levelsLow or inappropriately normal parathyroid hormone levelsHigh calcium in the urineCarpopedal spasm (hand and foot cramping)Mood changes or anxietyDry skin or brittle nailsDental problems
Clinical phenotype terms (30)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
4 eventsCalcilytix Therapeutics, Inc., a BridgeBio company — PHASE2, PHASE3
Calcilytix Therapeutics, Inc., a BridgeBio company — PHASE3
Calcilytix Therapeutics, Inc., a BridgeBio company
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Autosomal dominant hypocalcemia.
4 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Autosomal dominant hypocalcemia.
Community
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Start the conversation →Latest news about Autosomal dominant hypocalcemia
Disease timeline:
New recruiting trial: Pharmacokinetics, Efficacy, and Safety of Encaleret in Pediatric Participants With Autosomal Dominant Hypocalcemia Type 1 (ADH1)
A new clinical trial is recruiting patients for Autosomal dominant hypocalcemia
New trial: Postoperative Hypocalcemia After Thyroidectomy
Phase NA trial recruiting.
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is my current blood calcium level and what is the target range for me?,How often should I have blood and urine tests to monitor my calcium and kidney health?,What are the risks of calcium and vitamin D supplements for my kidneys?,Should I take a thiazide diuretic to protect my kidneys?,Are there any newer treatments or clinical trials I should know about?,Should my family members be tested for this condition?,What symptoms should prompt me to go to the emergency room?
Common questions about Autosomal dominant hypocalcemia
What is Autosomal dominant hypocalcemia?
Autosomal dominant hypocalcemia (ADH) is a rare inherited condition in which the body maintains abnormally low levels of calcium in the blood. It is sometimes called "autosomal dominant hypoparathyroidism" or "familial hypocalcemia." The condition is caused by mutations in genes that make the calcium-sensing receptor (CaSR) or related proteins overly sensitive. Normally, the parathyroid glands detect blood calcium levels and release parathyroid hormone (PTH) to raise calcium when it drops too low. In ADH, the calcium sensor is set too high, so the body mistakenly thinks calcium levels are adeq
How is Autosomal dominant hypocalcemia inherited?
Autosomal dominant hypocalcemia follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for Autosomal dominant hypocalcemia?
Yes — 4 recruiting clinical trials are currently listed for Autosomal dominant hypocalcemia on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Autosomal dominant hypocalcemia?
6 specialists and care centers treating Autosomal dominant hypocalcemia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.