Familial Primary Hypomagnesemia
A group of inherited magnesium-wasting disorders caused by variants in genes such as CLDN16, CLDN19, TRPM6, CNNM2 and FXYD2; the CLDN16 and CLDN19 forms can progress to chronic kidney disease.
What a diagnosis changes
Magnesium supplementation can control symptoms, and some forms need kidney function and eye monitoring.
Also known as
hypomagnesemia
Includes 16 related subtypes ↓Hide subtypes ↑
- EGF-related primary hypomagnesemia with intellectual disability
- familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
- familial primary hypomagnesemia with hypocalcuria
- familial primary hypomagnesemia with normocalciuria and normocalcemia
- familial primary hypomagnesemia with normocalcuria
- hypomagnesemia 7, renal, with or without dilated cardiomyopathy
- hypomagnesemia, seizures, and intellectual disability
- hypomagnesemia, seizures, and intellectual disability 1
- hypomagnesemia, seizures, and intellectual disability 2
- intestinal hypomagnesemia 1
- isolated autosomal dominant hypomagnesemia, Glaudemans type
- renal hypomagnesemia 2
- renal hypomagnesemia 3
- renal hypomagnesemia 4
- renal hypomagnesemia 5 with ocular involvement
- renal hypomagnesemia 6
