Overview
Genetic primary hypomagnesemia with hypocalciuria is a rare inherited kidney condition that affects how the body handles magnesium and calcium. In this disorder, the kidneys lose too much magnesium into the urine while at the same time reabsorbing more calcium than normal, leading to low magnesium levels in the blood (hypomagnesemia) and unusually low calcium in the urine (hypocalciuria). This condition is now considered an obsolete or reclassified term in medical databases, meaning it has been merged into or replaced by more specific diagnostic categories. It is closely related to conditions such as familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) or other renal magnesium-wasting disorders, though the specific pattern here — low urine calcium combined with low blood magnesium — points to defects in a particular part of the kidney tubule called the distal convoluted tubule. Symptoms can include muscle cramps, tremors, fatigue, numbness or tingling, and in severe cases, seizures or abnormal heart rhythms due to dangerously low magnesium. Treatment typically involves lifelong magnesium supplementation, either by mouth or intravenously when levels drop critically low. Because this term is now obsolete, patients previously diagnosed with this condition may find their diagnosis reclassified under a more specific genetic subtype, such as those involving mutations in genes like FXYD2, HNF1B, KCNA1, or others involved in renal magnesium handling.
Key symptoms:
Muscle cramps and spasmsTremors or shakingNumbness or tingling in hands and feetFatigue and weaknessSeizuresAbnormal heart rhythmsIrritability or mood changesPoor appetiteNausea or vomitingDifficulty concentratingMuscle twitching around the face
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Genetic primary hypomagnesemia with hypocalciuria.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for OBSOLETE: Genetic primary hypomagnesemia with hypocalciuria at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Genetic primary hypomagnesemia with hypocalciuria.
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 OBSOLETE: Genetic primary hypomagnesemia with hypocalciuria.
Community
No community posts yet. Be the first to share your experience with OBSOLETE: Genetic primary hypomagnesemia with hypocalciuria.
Start the conversation →Latest news about OBSOLETE: Genetic primary hypomagnesemia with hypocalciuria
No recent news articles for OBSOLETE: Genetic primary hypomagnesemia with hypocalciuria.
Follow this condition to be notified when news becomes available.
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 specific genetic subtype do I have, and what gene is affected?,What is my target magnesium level, and how often should it be checked?,Which form of magnesium supplement is best for me, and how can I manage side effects?,What are the warning signs that I need emergency care?,Should my family members be tested for this condition?,Are there any medications I should avoid that could lower my magnesium further?,How might this condition affect my kidneys or heart over the long term?
Common questions about OBSOLETE: Genetic primary hypomagnesemia with hypocalciuria
What is OBSOLETE: Genetic primary hypomagnesemia with hypocalciuria?
Genetic primary hypomagnesemia with hypocalciuria is a rare inherited kidney condition that affects how the body handles magnesium and calcium. In this disorder, the kidneys lose too much magnesium into the urine while at the same time reabsorbing more calcium than normal, leading to low magnesium levels in the blood (hypomagnesemia) and unusually low calcium in the urine (hypocalciuria). This condition is now considered an obsolete or reclassified term in medical databases, meaning it has been merged into or replaced by more specific diagnostic categories. It is closely related to conditions