intestinal hypomagnesemia 1

Summary
Synonym
  • HOMG1
  • hypomagnesemia caused by selective magnesium malabsorption
  • hypomagnesemia intestinal type 1
  • hypomagnesemic tetany
  • intestinal hypomagnesemia with secondary hypocalcemia
  • primary hypomagnesemia with secondary hypocalcemia
Definition
A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorption and kidney excretion and secondary hypocalcemia that has_material_basis_in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9q21.
Super Class
primary hypomagnesemia
Disease Ontology
DOID:0060883
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
140803 TRPM6 transient receptor potential cation channel subfamily M member 6

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024