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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click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2010 | 0 | 1 | 1 |
| 2011 | 1 | 0 | 1 |
| 2012 | 0 | 1 | 1 |
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click here.
Below are the most recent publications written about "Hypophosphatemia, Familial" by people in Profiles.
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Phosphaturic mesenchymal tumor: a report of 6 patients treated at a single institution and comparison with reported series. Ann Diagn Pathol. 2013 Aug; 17(4):319-21.
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PKB/SGK-resistant GSK3 enhances phosphaturia and calciuria. J Am Soc Nephrol. 2011 May; 22(5):873-80.
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Akt2/PKBbeta-sensitive regulation of renal phosphate transport. Acta Physiol (Oxf). 2010 Sep; 200(1):75-85.
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Significant developmental elevation in serum parathyroid hormone levels in a large kindred with familial benign (hypocalciuric) hypercalcemia. Am J Med. 1992 Sep; 93(3):247-58.
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Genetic defects of the 1,25-dihydroxyvitamin D3 receptor. J Recept Res. 1991; 11(1-4):699-716.
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X-linked hypophosphatemia: skeletal mass in adults assessed by histomorphometry, computed tomography, and absorptiometry. Am J Med. 1991 Jan; 90(1):63-9.
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An ochre mutation in the vitamin D receptor gene causes hereditary 1,25-dihydroxyvitamin D3-resistant rickets in three families. Proc Natl Acad Sci U S A. 1989 Dec; 86(24):9783-7.
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X-linked hypophosphatemia: a clinical, biochemical, and histopathologic assessment of morbidity in adults. Medicine (Baltimore). 1989 Nov; 68(6):336-52.
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X-linked hypophosphatemia in adults: prevalence of skeletal radiographic and scintigraphic features. Radiology. 1989 May; 171(2):403-14.