renal hypomagnesemia 6

Summary
Synonym
  • HOMG6
Definition
A hypomagnesemia characterized by autosomal dominant inheritance of severely lowered serum magnesium levels without other electrolyte disturbances or abnormalities in urinary magnesium excretion that has_material_basis_in heterozygous mutation in the CNNM2 gene on chromosome 10q24.
Super Class
primary hypomagnesemia
External Links
Disease Ontology
DOID:0060884
Mondo Disease Ontology
ORDO
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
54805 CNNM2 cyclin and CBS domain divalent metal cation transport mediator 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
94219 Cnnm2 cyclin M2
Displaying 1 entry
Gene ID Gene Symbol Description Source
294014 Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
5740320 uex unextended
Displaying all 2 entries
Gene ID Gene Symbol Description Source
178499 cnnm-1 Metal transporter cnnm-1
180591 cnnm-3 Metal transporter cnnm-3

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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: August 19, 2024