Familial Hypophosphatemia

An inherited condition of abnormally low serum levels of PHOSPHATES (below 1 mg/liter) which can occur in a number of genetic diseases with defective reabsorption of inorganic phosphorus by the PROXIMAL RENAL TUBULES. This leads to phosphaturia, HYPOPHOSPHATEMIA, and disturbances of cellular and organ functions such as those in X-LINKED HYPOPHOSPHATEMIC RICKETS; OSTEOMALACIA; and FANCONI SYNDROME.

Also Known As:

Phosphate Diabetes; Phosphaturia; Hypophosphatemia, Familial; Diabetes, Phosphate; Hyperphosphaturia; Familial Hypophosphatemias; Hypophosphatemias, Familial

Urogenital Diseases: 126
- Urologic Diseases: 799
  - Kidney Diseases: 12250
    - Inborn Errors Renal Tubular Transport
      - Familial Hypophosphatemia: 721
- Female Urogenital Diseases and Pregnancy Complications
  - Female Urogenital Diseases
    - Urologic Diseases: 799
      - Kidney Diseases: 12250
        Inborn Errors Renal Tubular Transport
        Familial Hypophosphatemia: 721
- Male Urogenital Diseases
  - Urologic Diseases: 799
    - Kidney Diseases: 12250
      - Inborn Errors Renal Tubular Transport
        Familial Hypophosphatemia: 721
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Metal Metabolism
      - Familial Hypophosphatemia: 721
  - Inborn Errors Renal Tubular Transport
    - Familial Hypophosphatemia: 721
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Inborn Errors Metal Metabolism
      - Familial Hypophosphatemia: 721
  - Phosphorus Metabolism Disorders: 26
    - Hypophosphatemia: 2532
      - Familial Hypophosphatemia: 721

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