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.
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
- Hyperphosphaturia
- Phosphate Diabetes
- Diabetes, Phosphate
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 Harvard Catalyst Profiles by year, and whether "Hypophosphatemia, Familial" was a major or minor topic of these publication.
To see the data from this visualization as text,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1995 | 1 | 0 | 1 |
| 1996 | 1 | 0 | 1 |
| 1997 | 1 | 0 | 1 |
| 1998 | 1 | 0 | 1 |
| 2001 | 3 | 0 | 3 |
| 2002 | 1 | 0 | 1 |
| 2003 | 1 | 0 | 1 |
| 2004 | 0 | 2 | 2 |
| 2005 | 1 | 0 | 1 |
| 2006 | 1 | 0 | 1 |
| 2008 | 0 | 1 | 1 |
| 2009 | 1 | 0 | 1 |
| 2010 | 0 | 1 | 1 |
| 2011 | 1 | 0 | 1 |
| 2012 | 2 | 0 | 2 |
| 2013 | 1 | 0 | 1 |
| 2015 | 1 | 0 | 1 |
| 2019 | 1 | 0 | 1 |
| 2020 | 1 | 0 | 1 |
Below are the most recent publications written about "Hypophosphatemia, Familial" by people in Profiles.
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Nephrolithiasis from an Unexpected Cause: Phosphaturia. Am J Med. 2021 02; 134(2):e131-e132.
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1,25-Dihydroxyvitamin D Maintains Brush Border Membrane NaPi2a and Attenuates Phosphaturia in Hyp Mice. Endocrinology. 2019 10 01; 160(10):2204-2214.
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Identification of a novel FN1-FGFR1 genetic fusion as a frequent event in phosphaturic mesenchymal tumour. J Pathol. 2015 Mar; 235(4):539-45.
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Dietary phosphate: the challenges of exploring its role in FGF23 regulation. Kidney Int. 2013 Oct; 84(4):639-41.
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FGF23-induced hypophosphatemia persists in Hyp mice deficient in the WNT coreceptor Lrp6. Contrib Nephrol. 2013; 180:124-37.
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Fibroblast growth factor-23 and outcomes: new answers, new questions. J Am Soc Nephrol. 2013 Mar; 24(4):523-5.
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Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations. J Clin Endocrinol Metab. 2012 Oct; 97(10):E1978-86.
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Sirolimus induced phosphaturia is not caused by inhibition of renal apical sodium phosphate cotransporters. PLoS One. 2012; 7(7):e39229.
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FGF23 acts directly on renal proximal tubules to induce phosphaturia through activation of the ERK1/2-SGK1 signaling pathway. Bone. 2012 Sep; 51(3):621-8.
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FGF-23/Klotho signaling is not essential for the phosphaturic and anabolic functions of PTH. J Bone Miner Res. 2011 Sep; 26(9):2026-35.