Nephrocalcinosis

Alias:
Hypercalcemic Nephropathy
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Nephrocalcinosis, also known as hypercalcemic nephropathy, is related to hypomagnesemia 5, renal, with or without ocular involvement and hypomagnesemia 3, renal. An important gene associated with Nephrocalcinosis is ATP6V1B1 (ATPase H+ Transporting V1 Subunit B1), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Ion channel transport. The drugs Potassium citrate and Sodium citrate 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
Related ID:
MESH:D009397
ICD11:1359282431

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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26
218
1

Medical Symptom

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Gene & Mutation

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Disease Model

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MGI
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References Literature

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