Hypophosphatemia (VDRR)

Alias:
Vitamin D-Resistant Rickets
Hypophosphatemic Rickets, X-Linked Dominant
Hereditary Hypophosphatemic Rickets
Familial Hypophosphatemic Rickets
Vitamin D Resistant Rickets
Vdrr
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hypophosphatemia, also known as vitamin d-resistant rickets, is related to vitamin d hydroxylation-deficient rickets, type 1a and dominant hypophosphatemia with nephrolithiasis or osteoporosis, and has symptoms including arthralgia and bone pain. An important gene associated with Hypophosphatemia is PHEX (Phosphate Regulating Endopeptidase X-Linked), and among its related pathways/superpathways are Pleural mesothelioma and Negative regulation of FGFR3 signaling. The drugs Iron isomaltoside 1000 and Calcitriol have been mentioned in the context of this disorder. Affiliated tissues include bone and kidney, and related phenotypes are homeostasis/metabolism and renal/urinary system
Related ID:
MESH:D017674

Basic Information

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