KEGG   DISEASE: HypomagnesemiaHelp
Entry
H01210                      Disease                                

Name
Hypomagnesemia
Description
Hypomagnesemia (HOMG) is defined as a serum magnesium level less than 1.8 mg/dl. Hypomagnesemia may result from inadequate magnesium intake, increased gastrointestinal or renal losses, or redistribution from extracellular to intracellular space.
Category
Congenital disorder of metabolism
Brite
Human diseases [BR:br08402]
 Congenital disorders of metabolism
  Other congenital disorders of metabolism
   H01210  Hypomagnesemia
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Disorders of metabolite absorption or transport
    5C64  Disorders of mineral absorption or transport
     H01210  Hypomagnesemia
BRITE hierarchy
Pathway
hsa04978 Mineral absorption   
hsa04510  Focal adhesion
hsa04514  Cell adhesion molecules (CAMs)
hsa04530  Tight junction
hsa04540  Gap junction
Gene
(HOMG1) TRPM6 [HSA:140803] [KO:K04981]
(HOMG2) FXYD2 [HSA:486] [KO:K01538]
(HOMG3) CLDN16 [HSA:10686] [KO:K06087]
(HOMG4) EGF [HSA:1950] [KO:K04357]
(HOMG5) CLDN19 [HSA:149461] [KO:K06087]
(HOMG6) CNNM2 [HSA:54805] [KO:K16302]
Drug
Magnesium sulfate [DR:D01108]
Other DBs
ICD-11: 5C64.41
ICD-10: E83.4
MeSH: C566593 C537152 C537153 C564024 C567127
OMIM: 602014 154020 248250 248190 611718 613882
Reference
  Authors
Assadi F
  Title
Hypomagnesemia: an evidence-based approach to clinical cases.
  Journal
Iran J Kidney Dis 4:13-9 (2010)
Reference
  Authors
Arjona FJ, de Baaij JH, Schlingmann KP, Lameris AL, van Wijk E, Flik G, Regele S, Korenke GC, Neophytou B, Rust S, Reintjes N, Konrad M, Bindels RJ, Hoenderop JG
  Title
CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia.
  Journal
PLoS Genet 10:e1004267 (2014)
DOI:10.1371/journal.pgen.1004267
Reference
  Authors
Stuiver M, Lainez S, Will C, Terryn S, Gunzel D, Debaix H, Sommer K, Kopplin K, Thumfart J, Kampik NB, Querfeld U, Willnow TE, Nemec V, Wagner CA, Hoenderop JG, Devuyst O, Knoers NV, Bindels RJ, Meij IC, Muller D
  Title
CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia.
  Journal
Am J Hum Genet 88:333-43 (2011)
DOI:10.1016/j.ajhg.2011.02.005
LinkDB All DBs

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