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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.
Features include always present findings: Hypomagnesemia and Hypocalcemia; and common findings: Seizure. 5 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Brain and nerves | 1 | Seizure |
Muscles | 1 | Muscle spasm |
TRPM6 function has not been fully characterized.
Intestinal hypomagnesemia 1 is associated with mutations in the TRPM6 gene on chromosome 9.
Genetic testing for TRPM6 is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 2 always present features, 1 common feature.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
5 publications have been identified in PubMed for intestinal hypomagnesemia 1. Research spans Case Report / Case Series (60%) and Review / Meta-Analysis (40%).
Zhou MY (2026). [PMID: 41582756](https://pubmed.ncbi.nlm.nih.gov/41582756/). *Zhongguo Dang Dai Er Ke Za Zhi*. [Case Report / Case Series]
Xu EJ (2025). [PMID: 40613016](https://pubmed.ncbi.nlm.nih.gov/40613016/). *Kidney Med*. [Review / Meta-Analysis]
Wang YJ (2025). [PMID: 39788597](https://pubmed.ncbi.nlm.nih.gov/39788597/). *Zhonghua Nei Ke Za Zhi*. [Case Report / Case Series]
Aftab S (2025). [PMID: 40853861](https://pubmed.ncbi.nlm.nih.gov/40853861/). *Horm Res Paediatr*. [Case Report / Case Series]
Kröse JL (2024). [PMID: 38871680](https://pubmed.ncbi.nlm.nih.gov/38871680/). *Nephrol Dial Transplant*. [Review / Meta-Analysis]
Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 4:29 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center