intestinal hypomagnesemia 1
Findings
No curated finding names intestinal hypomagnesemia 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications.
Definition from the Mondo Disease Ontology (MONDO:0011176), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
2 features
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, annotations 2026-09-02.
- HypomagnesemiaHPOHP:0002917
- 5 of 5 reported patients
- SeizureHPOHP:0001250
- 2 of 5 reported patients
Genes
2 genes
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.
- TRPM6HGNC:17995
- Definitive · Natera · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- TRPV6HGNC:14006
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
Other names
13 names
Resolves to: intestinal hypomagnesemia 1
- Also called
- familial primary hypomagnesemia caused by mutation in TRPM6HOMG1HSHhypomagnesemia caused by selective magnesium malabsorptionhypomagnesemia intestinal type 1hypomagnesemic tetanyintestinal hypomagnesemia type 1intestinal hypomagnesemia with secondary hypocalcemiaPHSHprimary hypomagnesemia caused by mutation in TRPM6primary hypomagnesemia with secondary hypocalcemiaTRPM6 familial primary hypomagnesemiaTRPM6 primary hypomagnesemia