Familial Hypophosphatemic Rickets

A hereditary disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phosphate reabsorption and vitamin D metabolism; and growth retardation. Autosomal and X-linked dominant and recessive variants have been reported.

Also Known As:

X-Linked Hypophosphatemia; Generalized Resistance To 1,25-Dihydroxyvitamin D; Hereditary Hypophosphatemic Rickets; Hereditary Vitamin D-Resistant Rickets; Hypocalcemic Vitamin D-Resistant Rickets; Hypophosphatemia, X-Linked; Hypophosphatemic Rickets, X-Linked Recessive; Rickets, Hereditary Vitamin D-Resistant; Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol; Vitamin D-Resistant Rickets, Hereditary; Vitamin D-Resistant Rickets, X-Linked; Generalized Resistance To 1,25 Dihydroxyvitamin D; Hereditary Vitamin D Resistant Rickets; Hypocalcemic Vitamin D Resistant Rickets; Hypophosphatemia, X Linked; Hypophosphatemic Rickets, Familial; Hypophosphatemic Rickets, Hereditary; Hypophosphatemic Rickets, X Linked Dominant; Hypophosphatemic Rickets, X Linked Recessive; Hypophosphatemic Rickets, X-Linked; Rickets, Familial Hypophosphatemic; Rickets, Hereditary Hypophosphatemic; Rickets, Hereditary Vitamin D Resistant; Vitamin D Resistant Rickets With End Organ Unresponsiveness To 1,25 Dihydroxycholecalciferol; Vitamin D Resistant Rickets, Hereditary; Vitamin D Resistant Rickets, X Linked; X Linked Hypophosphatemia; X-Linked Hypophosphatemic Rickets; Hypophosphatemic Rickets, X-Linked Dominant; Rickets, X-Linked Hypophosphatemic

Musculoskeletal Diseases: 751
- Bone Diseases: 5970
  - Metabolic Bone Diseases: 6343
    - Rickets: 3252
      - Hypophosphatemic Rickets: 511
        Familial Hypophosphatemic Rickets: 687
Urogenital Diseases: 129
- Urologic Diseases: 817
  - Kidney Diseases: 12764
    - Inborn Errors Renal Tubular Transport
      - Familial Hypophosphatemia: 731
        Familial Hypophosphatemic Rickets: 687
- Female Urogenital Diseases and Pregnancy Complications
  - Female Urogenital Diseases
    - Urologic Diseases: 817
      - Kidney Diseases: 12764
        Inborn Errors Renal Tubular Transport
        Familial Hypophosphatemia: 731
        Familial Hypophosphatemic Rickets: 687
- Male Urogenital Diseases
  - Urologic Diseases: 817
    - Kidney Diseases: 12764
      - Inborn Errors Renal Tubular Transport
        Familial Hypophosphatemia: 731
        Familial Hypophosphatemic Rickets: 687
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Metal Metabolism
      - Familial Hypophosphatemia: 731
        Familial Hypophosphatemic Rickets: 687
  - Inborn Errors Renal Tubular Transport
    - Familial Hypophosphatemia: 731
      - Familial Hypophosphatemic Rickets: 687
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Metabolic Bone Diseases: 6343
    - Rickets: 3252
      - Hypophosphatemic Rickets: 511
        Familial Hypophosphatemic Rickets: 687
  - Inborn Errors Metabolism: 1183
    - Inborn Errors Metal Metabolism
      - Familial Hypophosphatemia: 731
        Familial Hypophosphatemic Rickets: 687
  - Calcium Metabolism Disorders: 48
    - Rickets: 3252
      - Hypophosphatemic Rickets: 511
        Familial Hypophosphatemic Rickets: 687
  - Phosphorus Metabolism Disorders: 27
    - Hypophosphatemia: 2610
      - Familial Hypophosphatemia: 731
        Familial Hypophosphatemic Rickets: 687
      - Hypophosphatemic Rickets: 511
        Familial Hypophosphatemic Rickets: 687
- Nutrition Disorders: 417
  - Malnutrition: 20982
    - Deficiency Diseases: 518
      - Avitaminosis: 1321
        Vitamin D Deficiency: 8915
        Rickets: 3252
        Hypophosphatemic Rickets: 511
        Familial Hypophosphatemic Rickets: 687

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Disease

Drug/Important Bio-Agent (IBA)