 Hypophosphatasia
"Hypophosphatasia" 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 genetic metabolic disorder resulting from serum and bone alkaline phosphatase deficiency leading to hypercalcemia, ethanolamine phosphatemia, and ethanolamine phosphaturia. Clinical manifestations include severe skeletal defects resembling vitamin D-resistant rickets, failure of the calvarium to calcify, dyspnea, cyanosis, vomiting, constipation, renal calcinosis, failure to thrive, disorders of movement, beading of the costochondral junction, and rachitic bone changes. (From Dorland, 27th ed)
| Descriptor ID |
D007014
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| MeSH Number(s) |
C16.320.565.618.482 C18.452.648.618.482
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| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Hypophosphatasia".
Below are MeSH descriptors whose meaning is more specific than "Hypophosphatasia".
This graph shows the total number of publications written about "Hypophosphatasia" by people in this website by year, and whether "Hypophosphatasia" 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 |
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| 2017 | 1 | 0 | 1 | | 2018 | 2 | 0 | 2 | | 2019 | 1 | 0 | 1 | | 2020 | 1 | 0 | 1 | | 2021 | 1 | 0 | 1 | | 2023 | 4 | 0 | 4 | | 2024 | 1 | 0 | 1 | | 2025 | 4 | 0 | 4 | | 2026 | 1 | 0 | 1 |
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Below are the most recent publications written about "Hypophosphatasia" by people in Profiles.
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Montero-Lopez R, Farman MR, H?gler F, Rehder C, Malli T, Webersinke G, Rockman-Greenberg C, Dahir K, Martos-Moreno G?, Linglart A, Ozono K, Seefried L, Del Angel G, Nading EB, Huggins E, Rush ET, Tauer JT, Kishnani PS, H?gler W. Biochemical phenotype of hypophosphatasia in asymptomatic individuals carrying ALPL variants. J Bone Miner Res. 2026 Mar 02; 41(3):259-269.
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Kishnani PS, Seefried L, Ozono K, Martos-Moreno G?, Rockman-Greenberg C, Fowler D, Burke LK, Mowrey WR, Rush ET, Ebeling PR, H?gler W, Linglart A, Fang S, Petryk A, Dahir KM. The Global Hypophosphatasia Registry: lessons learned from a decade of real-world data. Orphanet J Rare Dis. 2025 Nov 24; 20(1):626.
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Kishnani PS, Rehder C, Ozono K, P?rez-L?pez J, Del Angel G, Mowrey WR, Balasubramanian M, H?gler W, Rush ET. Revisiting the Genetics of Hypophosphatasia. J Inherit Metab Dis. 2025 Nov; 48(6):e70083.
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Seefried L, Genest F, Hofmann C, Brandi ML, Rush E. Diagnosis and Treatment of Hypophosphatasia. Calcif Tissue Int. 2025 Mar 06; 116(1):46.
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Rush ET, Del Angel G, Dong J, Bates T, Steiner RD, Cox A. Genetic characterization of a large cohort of individuals with a clinical suspicion of hypophosphatasia in the United States. Mol Genet Metab. 2025 Mar; 144(3):109046.
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Dahir KM, Rush ET, Diaz-Mendoza S, Kishnani PS. A Delphi panel to build consensus on assessing disease severity and disease progression in adult patients with hypophosphatasia in the United States. J Endocrinol Invest. 2024 Jun; 47(6):1487-1497.
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Khan AA, Brandi ML, Rush ET, Ali DS, Al-Alwani H, Almonaei K, Alsarraf F, Bacrot S, Dahir KM, Dandurand K, Deal C, Ferrari SL, Giusti F, Guyatt G, Hatcher E, Ing SW, Javaid MK, Khan S, Kocijan R, Linglart A, M'Hiri I, Marini F, Nunes ME, Rockman-Greenberg C, Roux C, Seefried L, Simmons JH, Starling SR, Ward LM, Yao L, Brignardello-Petersen R, Lewiecki EM. Hypophosphatasia?diagnosis: current state of the art and proposed diagnostic criteria for children and adults. Osteoporos Int. 2024 Mar; 35(3):431-438.
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Brandi ML, Khan AA, Rush ET, Ali DS, Al-Alwani H, Almonaei K, Alsarraf F, Bacrot S, Dahir KM, Dandurand K, Deal C, Ferrari SL, Giusti F, Guyatt G, Hatcher E, Ing SW, Javaid MK, Khan S, Kocijan R, Lewiecki EM, Linglart A, M'Hiri I, Marini F, Nunes ME, Rockman-Greenberg C, Seefried L, Simmons JH, Starling SR, Ward LM, Yao L, Brignardello-Petersen R, Roux C. The challenge of hypophosphatasia diagnosis in adults: results from the HPP International Working Group Literature Surveillance. Osteoporos Int. 2024 Mar; 35(3):439-449.
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Rush E, Brandi ML, Khan A, Ali DS, Al-Alwani H, Almonaei K, Alsarraf F, Bacrot S, Dahir KM, Dandurand K, Deal C, Ferrari SL, Giusti F, Guyatt G, Hatcher E, Ing SW, Javaid MK, Khan S, Kocijan R, Lewiecki EM, Linglart A, M'Hiri I, Marini F, Nunes ME, Rockman-Greenberg C, Roux C, Seefried L, Starling SR, Ward L, Yao L, Brignardello-Petersen R, Simmons JH. Proposed diagnostic criteria for the diagnosis of hypophosphatasia in children and adolescents: results from the HPP International Working Group. Osteoporos Int. 2024 Jan; 35(1):1-10.
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Farman MR, Rehder C, Malli T, Rockman-Greenberg C, Dahir K, Martos-Moreno G?, Linglart A, Ozono K, Seefried L, Del Angel G, Webersinke G, Barbazza F, John LK, Delana Mudiyanselage SMA, H?gler F, Nading EB, Huggins E, Rush ET, El-Gazzar A, Kishnani PS, H?gler W. The Global ALPL gene variant classification project: Dedicated to deciphering variants. Bone. 2024 01; 178:116947.
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