 Familial Hypophosphatemic Rickets
"Familial Hypophosphatemic Rickets" 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.
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.
| Descriptor ID |
D053098
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| MeSH Number(s) |
C05.116.198.816.875.500 C12.777.419.815.647.500 C13.351.968.419.815.647.500 C16.320.565.618.544.500 C16.320.565.861.647.500 C18.452.174.845.875.500 C18.452.648.618.544.500 C18.452.648.861.647.500 C18.452.750.400.500.500 C18.452.750.400.750.500 C18.654.521.500.133.770.734.875.500
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| Concept/Terms |
Familial Hypophosphatemic Rickets- Familial Hypophosphatemic Rickets
- Hypophosphatemic Rickets, Familial
- Rickets, Familial Hypophosphatemic
- Vitamin D Resistant Rickets
- Hereditary Hypophosphatemic Rickets
- Hypophosphatemic Rickets, Hereditary
- Rickets, Hereditary Hypophosphatemic
- Vitamin D-Resistant Rickets, Hereditary
- Vitamin D Resistant Rickets, Hereditary
- Hereditary Vitamin D-Resistant Rickets
- Hereditary Vitamin D Resistant Rickets
Rickets, X-Linked Hypophosphatemic- Rickets, X-Linked Hypophosphatemic
- Hypophosphatemic Rickets, X-Linked
- X-Linked Hypophosphatemic Rickets
- Hypophosphatemia, X-Linked
- Hypophosphatemia, X Linked
- X-Linked Hypophosphatemia
- X Linked Hypophosphatemia
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Below are MeSH descriptors whose meaning is more general than "Familial Hypophosphatemic Rickets".
- Diseases [C]
- Musculoskeletal Diseases [C05]
- Bone Diseases [C05.116]
- Bone Diseases, Metabolic [C05.116.198]
- Rickets [C05.116.198.816]
- Rickets, Hypophosphatemic [C05.116.198.816.875]
- Familial Hypophosphatemic Rickets [C05.116.198.816.875.500]
- 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]
- Familial Hypophosphatemic Rickets [C12.777.419.815.647.500]
- 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]
- Familial Hypophosphatemic Rickets [C13.351.968.419.815.647.500]
- 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]
- Familial Hypophosphatemic Rickets [C16.320.565.618.544.500]
- Renal Tubular Transport, Inborn Errors [C16.320.565.861]
- Hypophosphatemia, Familial [C16.320.565.861.647]
- Familial Hypophosphatemic Rickets [C16.320.565.861.647.500]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Calcium Metabolism Disorders [C18.452.174]
- Rickets [C18.452.174.845]
- Rickets, Hypophosphatemic [C18.452.174.845.875]
- Familial Hypophosphatemic Rickets [C18.452.174.845.875.500]
- Metabolism, Inborn Errors [C18.452.648]
- Metal Metabolism, Inborn Errors [C18.452.648.618]
- Hypophosphatemia, Familial [C18.452.648.618.544]
- Familial Hypophosphatemic Rickets [C18.452.648.618.544.500]
- Renal Tubular Transport, Inborn Errors [C18.452.648.861]
- Hypophosphatemia, Familial [C18.452.648.861.647]
- Familial Hypophosphatemic Rickets [C18.452.648.861.647.500]
- Phosphorus Metabolism Disorders [C18.452.750]
- Hypophosphatemia [C18.452.750.400]
- Hypophosphatemia, Familial [C18.452.750.400.500]
- Familial Hypophosphatemic Rickets [C18.452.750.400.500.500]
- Rickets, Hypophosphatemic [C18.452.750.400.750]
- Familial Hypophosphatemic Rickets [C18.452.750.400.750.500]
- Nutrition Disorders [C18.654]
- Malnutrition [C18.654.521]
- Deficiency Diseases [C18.654.521.500]
- Avitaminosis [C18.654.521.500.133]
- Vitamin D Deficiency [C18.654.521.500.133.770]
- Rickets [C18.654.521.500.133.770.734]
- Rickets, Hypophosphatemic [C18.654.521.500.133.770.734.875]
- Familial Hypophosphatemic Rickets [C18.654.521.500.133.770.734.875.500]
Below are MeSH descriptors whose meaning is more specific than "Familial Hypophosphatemic Rickets".
This graph shows the total number of publications written about "Familial Hypophosphatemic Rickets" by people in this website by year, and whether "Familial Hypophosphatemic Rickets" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2007 | 1 | 0 | 1 | | 2008 | 1 | 0 | 1 | | 2010 | 1 | 0 | 1 | | 2011 | 1 | 0 | 1 | | 2013 | 1 | 0 | 1 | | 2014 | 1 | 0 | 1 | | 2017 | 1 | 0 | 1 | | 2021 | 1 | 0 | 1 | | 2022 | 1 | 0 | 1 |
To return to the timeline, click here.
Below are the most recent publications written about "Familial Hypophosphatemic Rickets" by people in Profiles.
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Ashrafzadeh-Kian SL, Ito N, Srivastava T, Garg U, Kato H, Algeciras-Schimnich A, Bornhorst JA. The effect of burosumab on intact and C-terminal FGF23 measurements. Clin Endocrinol (Oxf). 2023 08; 99(2):152-157.
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Rush ET, Johnson B, Aradhya S, Beltran D, Bristow SL, Eisenbeis S, Guerra NE, Krolczyk S, Miller N, Morales A, Ramesan P, Sarafrazi S, Truty R, Dahir K. Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program. J Bone Miner Res. 2022 02; 37(2):202-214.
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Alon US, Jarka D, Monachino PJ, Sebestyen VanSickle J, Srivastava T. Cinacalcet as an alternative to phosphate therapy in X-linked hypophosphataemic rickets. Clin Endocrinol (Oxf). 2017 07; 87(1):114-116.
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Clinkenbeard EL, Farrow EG, Summers LJ, Cass TA, Roberts JL, Bayt CA, Lahm T, Albrecht M, Allen MR, Peacock M, White KE. Neonatal iron deficiency causes abnormal phosphate metabolism by elevating FGF23 in normal and ADHR mice. J Bone Miner Res. 2014 Feb; 29(2):361-9.
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Srivastava T, Alon US. Cinacalcet as adjunctive therapy for hereditary 1,25-dihydroxyvitamin D-resistant rickets. J Bone Miner Res. 2013 May; 28(5):992-6.
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Farrow EG, Yu X, Summers LJ, Davis SI, Fleet JC, Allen MR, Robling AG, Stayrook KR, Jideonwo V, Magers MJ, Garringer HJ, Vidal R, Chan RJ, Goodwin CB, Hui SL, Peacock M, White KE. Iron deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice. Proc Natl Acad Sci U S A. 2011 Nov 15; 108(46):E1146-55.
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Farrow EG, Summers LJ, Schiavi SC, McCormick JA, Ellison DH, White KE. Altered renal FGF23-mediated activity involving MAPK and Wnt: effects of the Hyp mutation. J Endocrinol. 2010 Oct; 207(1):67-75.
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Farrow EG, Davis SI, Ward LM, Summers LJ, Bubbear JS, Keen R, Stamp TC, Baker LR, Bonewald LF, White KE. Molecular analysis of DMP1 mutants causing autosomal recessive hypophosphatemic rickets. Bone. 2009 Feb; 44(2):287-94.
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Farrow EG, Davis SI, Ward LM, White KE. The role of DMP1 in autosomal recessive hypophosphatemic rickets. J Musculoskelet Neuronal Interact. 2007 Oct-Dec; 7(4):310-2.
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