Primary Hypomagnesemia (HOMG)

Primary Hypomagnesemia(来自ICD-11)
别称:
Primary Familial Hypomagnesemia
Familial Primary Hypomagnesemia
Hypomagnesemia 1, Intestinal
Hypomagnesemia Primary
Homg
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Basic Information
Medical Symptom
Gene & Mutation
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References Literature
Primary Hypomagnesemia, also known as primary familial hypomagnesemia, is related to hypomagnesemia 3, renal and hypomagnesemia 2, renal, and has symptoms including abdominal pain, polyuria and seizures. An important gene associated with Primary Hypomagnesemia is CLDN16 (Claudin 16), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Ion channel transport. The drugs Temsirolimus and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include kidney and liver, and related phenotypes are renal/urinary system and homeostasis/metabolism
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参考文献
MALACARDS
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Unknown
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17
98
12

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