 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 C18.452.104.816.875.500 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
- Hypocalcemic Vitamin D-Resistant Rickets
- Hypocalcemic Vitamin D Resistant Rickets
- Rickets, Hereditary Vitamin D-Resistant
- Rickets, Hereditary Vitamin D Resistant
- Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol
- Vitamin D Resistant Rickets With End Organ Unresponsiveness To 1,25 Dihydroxycholecalciferol
- Vitamin D Resistant Rickets
- Vitamin D-Resistant Rickets, Hereditary
- Vitamin D Resistant Rickets, Hereditary
- Hereditary Vitamin D-Resistant Rickets
- Hereditary Vitamin D Resistant Rickets
- Hereditary Hypophosphatemic Rickets
- Hypophosphatemic Rickets, Hereditary
- Rickets, Hereditary Hypophosphatemic
- Generalized Resistance To 1,25-Dihydroxyvitamin D
- Generalized Resistance To 1,25 Dihydroxyvitamin D
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]
- Bone Diseases, Metabolic [C18.452.104]
- Rickets [C18.452.104.816]
- Rickets, Hypophosphatemic [C18.452.104.816.875]
- Familial Hypophosphatemic Rickets [C18.452.104.816.875.500]
- 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 |
|---|
| 2009 | 1 | 0 | 1 | | 2010 | 1 | 0 | 1 | | 2014 | 1 | 0 | 1 | | 2016 | 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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Fujii T, Shiozaki Y, Segawa H, Nishiguchi S, Hanazaki A, Noguchi M, Kirino R, Sasaki S, Tanifuji K, Koike M, Yokoyama M, Arima Y, Kaneko I, Tatsumi S, Ito M, Miyamoto KI. Analysis of opossum kidney NaPi-IIc sodium-dependent phosphate transporter to understand Pi handling in human kidney. Clin Exp Nephrol. 2019 Mar; 23(3):313-324.
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Zalewski A, Ma NS, Legeza B, Renthal N, Fl?ck CE, Pandey AV. Vitamin D-Dependent Rickets Type 1 Caused by Mutations in CYP27B1 Affecting Protein Interactions With Adrenodoxin. J Clin Endocrinol Metab. 2016 09; 101(9):3409-18.
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Shiozaki Y, Segawa H, Ohnishi S, Ohi A, Ito M, Kaneko I, Kido S, Tatsumi S, Miyamoto K. Relationship between sodium-dependent phosphate transporter (NaPi-IIc) function and cellular vacuole formation in opossum kidney cells. J Med Invest. 2015; 62(3-4):209-18.
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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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Haito-Sugino S, Ito M, Ohi A, Shiozaki Y, Kangawa N, Nishiyama T, Aranami F, Sasaki S, Mori A, Kido S, Tatsumi S, Segawa H, Miyamoto K. Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria. Am J Physiol Cell Physiol. 2012 May 01; 302(9):C1316-30.
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Treitz M. Not all rickets is vitamin D deficiency. Curr Opin Pediatr. 2010 Dec; 22(6):829-32.
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Ma NS, Malloy PJ, Pitukcheewanont P, Dreimane D, Geffner ME, Feldman D. Hereditary vitamin D resistant rickets: identification of a novel splice site mutation in the vitamin D receptor gene and successful treatment with oral calcium therapy. Bone. 2009 Oct; 45(4):743-6.
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