Hypophosphatemia, Familial
"Hypophosphatemia, Familial" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D007015
|
| MeSH Number(s) |
C12.777.419.815.647 C13.351.968.419.815.647 C16.320.565.618.544 C16.320.565.861.647 C18.452.648.618.544 C18.452.648.861.647 C18.452.750.400.500
|
| Concept/Terms |
Hypophosphatemia, Familial- Hypophosphatemia, Familial
- Familial Hypophosphatemias
- Hypophosphatemias, Familial
- Familial Hypophosphatemia
Phosphaturia- Phosphaturia
- Diabetes, Phosphate
- Hyperphosphaturia
- Phosphate Diabetes
|
Below are MeSH descriptors whose meaning is more general than "Hypophosphatemia, Familial".
- Diseases [C]
- Male Urogenital Diseases [C12]
- Urologic Diseases [C12.777]
- Kidney Diseases [C12.777.419]
- Renal Tubular Transport, Inborn Errors [C12.777.419.815]
- Hypophosphatemia, Familial [C12.777.419.815.647]
- Female Urogenital Diseases and Pregnancy Complications [C13]
- Female Urogenital Diseases [C13.351]
- Urologic Diseases [C13.351.968]
- Kidney Diseases [C13.351.968.419]
- Renal Tubular Transport, Inborn Errors [C13.351.968.419.815]
- Hypophosphatemia, Familial [C13.351.968.419.815.647]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Metabolism, Inborn Errors [C16.320.565]
- Metal Metabolism, Inborn Errors [C16.320.565.618]
- Hypophosphatemia, Familial [C16.320.565.618.544]
- Renal Tubular Transport, Inborn Errors [C16.320.565.861]
- Hypophosphatemia, Familial [C16.320.565.861.647]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Metabolism, Inborn Errors [C18.452.648]
- Metal Metabolism, Inborn Errors [C18.452.648.618]
- Hypophosphatemia, Familial [C18.452.648.618.544]
- Renal Tubular Transport, Inborn Errors [C18.452.648.861]
- Hypophosphatemia, Familial [C18.452.648.861.647]
- Phosphorus Metabolism Disorders [C18.452.750]
- Hypophosphatemia [C18.452.750.400]
- Hypophosphatemia, Familial [C18.452.750.400.500]
Below are MeSH descriptors whose meaning is more specific than "Hypophosphatemia, Familial".
This graph shows the total number of publications written about "Hypophosphatemia, Familial" by people in this website by year, and whether "Hypophosphatemia, Familial" was a major or minor topic of these publications.
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Below are the most recent publications written about "Hypophosphatemia, Familial" by people in Profiles.
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The regulation and function of phosphate in the human body. Biofactors. 2004; 21(1-4):345-55.
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Autosomal dominant hypophosphatemic rickets is linked to chromosome 12p13. J Clin Invest. 1997 Dec 01; 100(11):2653-7.