isolated autosomal dominant hypomagnesemia, Glaudemans type
Findings
No curated finding names isolated autosomal dominant hypomagnesemia, Glaudemans type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Isolated autosomal dominant hypomagnesemia, Glaudemans type (IADHG) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but normal urinary Mg values. The typical clinical features are recurrent muscle cramps, episodes of tetany, tremor, and muscle weakness, especially in distal limbs. The disease is potentially fatal.
Definition from the Mondo Disease Ontology (MONDO:0016048), read 2026-09-29. CC BY 4.0.
Genes
1 gene
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.
- KCNA1HGNC:6218
- Supportive · Orphanet · Autosomal dominant · 2021