familial primary hypomagnesemia

Findings

No curated finding names familial primary hypomagnesemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, hp/releases/2026-09-01.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• disorder of magnesium transport
• inborn metal metabolism disorder
• inherited renal tubular disease

Narrower terms (5)

• EGF-related primary hypomagnesemia with intellectual disability
• familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
• familial primary hypomagnesemia with hypocalcuria
• familial primary hypomagnesemia with normocalcuria
• hypomagnesemia 7, renal, with or without dilated cardiomyopathy