Diseases

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.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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.

MeSH Record

Classification

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MeSH Record

Synonyms

7 entry terms
  • Hypophosphatemia, Familial
  • Familial Hypophosphatemias
  • Hypophosphatemias, Familial
  • Diabetes, Phosphate
  • Hyperphosphaturia
  • Phosphate Diabetes
  • Phosphaturia

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

Indexing Annotation

a clinical entity: not for decreased blood phosphate levels ( = PHOSPHATES /blood)

MeSH Record

History Note

1965

MeSH Hierarchy

Tree Numbers

  1. C12.050.351.968w.419w.815w.647
  2. C12.200.777w.419w.815w.647
  3. C12.950w.419w.815w.647
  4. C16w.320w.565w.618w.544
  5. C16w.320w.831w.647
  6. C18.452w.648w.618w.544
  7. C18.452w.750.400w.500

AMA Style

References

  1. National Library of Medicine. Familial Hypophosphatemia. Medical Subject Headings (MeSH). 2026. Unique ID D007015. http://id.nlm.nih.gov/mesh/2026/D007015
  2. Familial Hypophosphatemia. In: Wikidata. https://www.wikidata.org/wiki/Q18975841