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Tumor-induced osteomalacia

MedGen UID:
226893
Concept ID:
C1274103
Disease or Syndrome
Synonym: Oncogenic osteomalacia
SNOMED CT: Tumor-induced osteomalacia (392559009); Oncogenic osteomalacia (392559009); Osteomalacia due to neoplastic disease (392559009); Osteomalacia due to neoplasm (392559009)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0018124
Orphanet: ORPHA352540

Definition

A rare paraneoplastic syndrome characterized by renal phosphate wasting and bone demineralization due to a phosphaturic mesenchymal tumor of the mixed connective tissue variant. It causes osteomalacia in adults with bone pain and pathological fractures, and rickets in children. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTumor-induced osteomalacia

Professional guidelines

PubMed

Jan de Beur SM, Minisola S, Xia WB, Abrahamsen B, Body JJ, Brandi ML, Clifton-Bligh R, Collins M, Florenzano P, Houillier P, Imanishi Y, Imel EA, Khan AA, Zillikens MC, Fukumoto S
J Intern Med 2023 Mar;293(3):309-328. Epub 2022 Dec 13 doi: 10.1111/joim.13593. PMID: 36511653Free PMC Article
Haffner D, Leifheit-Nestler M, Grund A, Schnabel D
Pediatr Nephrol 2022 Oct;37(10):2289-2302. Epub 2022 Mar 29 doi: 10.1007/s00467-022-05505-5. PMID: 35352187Free PMC Article
Fukumoto S
J Mol Endocrinol 2021 Feb;66(2):R57-R65. doi: 10.1530/JME-20-0089. PMID: 33295878

Recent clinical studies

Etiology

Hacisahinogullari H, Tekin S, Tanrikulu S, Saribeyliler G, Yalin GY, Bilgic B, Isik EG, Salduz A, Tuncer S, Gul N, Uzum AK, Aral F, Tanakol R, Selcukbiricik OS
Endocrine 2023 Nov;82(2):427-434. Epub 2023 Jul 22 doi: 10.1007/s12020-023-03450-3. PMID: 37480497
Abrahamsen B, Smith CD, Minisola S
Calcif Tissue Int 2021 Aug;109(2):147-156. Epub 2021 Apr 5 doi: 10.1007/s00223-021-00843-2. PMID: 33818653Free PMC Article
Li X, Jiang Y, Huo L, Wu H, Liu Y, Jin J, Yu W, Lv W, Zhou L, Xia Y, Wang O, Li M, Xing X, Chi Y, Jiajue R, Cui L, Meng X, Xia W
J Bone Miner Res 2020 Mar;35(3):469-477. Epub 2019 Nov 15 doi: 10.1002/jbmr.3903. PMID: 31643101Free PMC Article
Hautmann AH, Hautmann MG, Kölbl O, Herr W, Fleck M
Curr Rheumatol Rep 2015 Jun;17(6):512. doi: 10.1007/s11926-015-0512-5. PMID: 25900190
Chong WH, Andreopoulou P, Chen CC, Reynolds J, Guthrie L, Kelly M, Gafni RI, Bhattacharyya N, Boyce AM, El-Maouche D, Crespo DO, Sherry R, Chang R, Wodajo FM, Kletter GB, Dwyer A, Collins MT
J Bone Miner Res 2013 Jun;28(6):1386-98. doi: 10.1002/jbmr.1881. PMID: 23362135Free PMC Article

Diagnosis

Jan de Beur SM, Minisola S, Xia WB, Abrahamsen B, Body JJ, Brandi ML, Clifton-Bligh R, Collins M, Florenzano P, Houillier P, Imanishi Y, Imel EA, Khan AA, Zillikens MC, Fukumoto S
J Intern Med 2023 Mar;293(3):309-328. Epub 2022 Dec 13 doi: 10.1111/joim.13593. PMID: 36511653Free PMC Article
Minisola S, Fukumoto S, Xia W, Corsi A, Colangelo L, Scillitani A, Pepe J, Cipriani C, Thakker RV
Endocr Rev 2023 Mar 4;44(2):323-353. doi: 10.1210/endrev/bnac026. PMID: 36327295
Cianferotti L
Int J Mol Sci 2022 Nov 28;23(23) doi: 10.3390/ijms232314896. PMID: 36499221Free PMC Article
Jan de Beur SM, Miller PD, Weber TJ, Peacock M, Insogna K, Kumar R, Rauch F, Luca D, Cimms T, Roberts MS, San Martin J, Carpenter TO
J Bone Miner Res 2021 Apr;36(4):627-635. Epub 2021 Jan 12 doi: 10.1002/jbmr.4233. PMID: 33338281Free PMC Article
Fukumoto S
J Mol Endocrinol 2021 Feb;66(2):R57-R65. doi: 10.1530/JME-20-0089. PMID: 33295878

Therapy

Jan de Beur SM, Minisola S, Xia WB, Abrahamsen B, Body JJ, Brandi ML, Clifton-Bligh R, Collins M, Florenzano P, Houillier P, Imanishi Y, Imel EA, Khan AA, Zillikens MC, Fukumoto S
J Intern Med 2023 Mar;293(3):309-328. Epub 2022 Dec 13 doi: 10.1111/joim.13593. PMID: 36511653Free PMC Article
Haffner D, Leifheit-Nestler M, Grund A, Schnabel D
Pediatr Nephrol 2022 Oct;37(10):2289-2302. Epub 2022 Mar 29 doi: 10.1007/s00467-022-05505-5. PMID: 35352187Free PMC Article
Jan de Beur SM, Miller PD, Weber TJ, Peacock M, Insogna K, Kumar R, Rauch F, Luca D, Cimms T, Roberts MS, San Martin J, Carpenter TO
J Bone Miner Res 2021 Apr;36(4):627-635. Epub 2021 Jan 12 doi: 10.1002/jbmr.4233. PMID: 33338281Free PMC Article
Fukumoto S
J Mol Endocrinol 2021 Feb;66(2):R57-R65. doi: 10.1530/JME-20-0089. PMID: 33295878
Florenzano P, Hartley IR, Jimenez M, Roszko K, Gafni RI, Collins MT
Calcif Tissue Int 2021 Jan;108(1):128-142. Epub 2020 Jun 5 doi: 10.1007/s00223-020-00691-6. PMID: 32504138

Prognosis

Bosman A, Palermo A, Vanderhulst J, De Beur SMJ, Fukumoto S, Minisola S, Xia W, Body JJ, Zillikens MC
Calcif Tissue Int 2022 Oct;111(4):367-379. Epub 2022 Jul 20 doi: 10.1007/s00223-022-01005-8. PMID: 35857061Free PMC Article
Abrahamsen B, Smith CD, Minisola S
Calcif Tissue Int 2021 Aug;109(2):147-156. Epub 2021 Apr 5 doi: 10.1007/s00223-021-00843-2. PMID: 33818653Free PMC Article
Hautmann AH, Hautmann MG, Kölbl O, Herr W, Fleck M
Curr Rheumatol Rep 2015 Jun;17(6):512. doi: 10.1007/s11926-015-0512-5. PMID: 25900190
Chong WH, Andreopoulou P, Chen CC, Reynolds J, Guthrie L, Kelly M, Gafni RI, Bhattacharyya N, Boyce AM, El-Maouche D, Crespo DO, Sherry R, Chang R, Wodajo FM, Kletter GB, Dwyer A, Collins MT
J Bone Miner Res 2013 Jun;28(6):1386-98. doi: 10.1002/jbmr.1881. PMID: 23362135Free PMC Article
Jan de Beur SM
JAMA 2005 Sep 14;294(10):1260-7. doi: 10.1001/jama.294.10.1260. PMID: 16160135

Clinical prediction guides

Jan de Beur SM, Cimms T, Nixon A, Theodore-Oklota C, Luca D, Roberts MS, Egan S, Graham CA, Hribal E, Evans CJ, Wood S, Williams A
J Bone Miner Res 2023 Nov;38(11):1654-1664. Epub 2023 Sep 4 doi: 10.1002/jbmr.4900. PMID: 37578099
Ni X, Liu W, Zhang D, Li X, Chi Y, Feng J, Jin C, Pang Q, Gong Y, Cui L, Jiajue R, Yu W, Wu H, Huo L, Liu Y, Jin J, Zhou X, Lv W, Zhou L, Xia Y, Wang O, Li M, Xing X, Jiang Y, Xia W
J Clin Endocrinol Metab 2023 Apr 13;108(5):1224-1235. doi: 10.1210/clinem/dgac650. PMID: 36334263
Bosman A, Palermo A, Vanderhulst J, De Beur SMJ, Fukumoto S, Minisola S, Xia W, Body JJ, Zillikens MC
Calcif Tissue Int 2022 Oct;111(4):367-379. Epub 2022 Jul 20 doi: 10.1007/s00223-022-01005-8. PMID: 35857061Free PMC Article
Abrahamsen B, Smith CD, Minisola S
Calcif Tissue Int 2021 Aug;109(2):147-156. Epub 2021 Apr 5 doi: 10.1007/s00223-021-00843-2. PMID: 33818653Free PMC Article
Chong WH, Andreopoulou P, Chen CC, Reynolds J, Guthrie L, Kelly M, Gafni RI, Bhattacharyya N, Boyce AM, El-Maouche D, Crespo DO, Sherry R, Chang R, Wodajo FM, Kletter GB, Dwyer A, Collins MT
J Bone Miner Res 2013 Jun;28(6):1386-98. doi: 10.1002/jbmr.1881. PMID: 23362135Free PMC Article

Recent systematic reviews

Abate V, Vergatti A, De Filippo G, Damiano V, Menale C, D'Elia L, Rendina D
J Clin Endocrinol Metab 2024 Feb 20;109(3):e1006-e1011. doi: 10.1210/clinem/dgad690. PMID: 38006315
Bouraima F, Sapin V, Kahouadji S, Pickering ME, Pereira B, Bouvier D, Oris C
J Clin Endocrinol Metab 2023 Oct 18;108(11):3031-3040. doi: 10.1210/clinem/dgad297. PMID: 37235783
Rendina D, Abate V, Cacace G, D'Elia L, De Filippo G, Del Vecchio S, Galletti F, Cuocolo A, Strazzullo P
J Clin Endocrinol Metab 2022 Jul 14;107(8):e3428-e3436. doi: 10.1210/clinem/dgac253. PMID: 35468192
Cianferotti L, Delli Poggi C, Bertoldo F, Caffarelli C, Crotti C, Gatti D, Giannini S, Gonnelli S, Mazzantini M, Ombretta V, Sella S, Setti A, Varenna M, Zucchi F, Brandi ML
Endocrine 2022 Jun;76(3):709-721. Epub 2022 Apr 5 doi: 10.1007/s12020-022-03039-2. PMID: 35381903Free PMC Article
Meng T, Zhou W, Li B, Yin H, Li Z, Zhou L, Kong J, Yan W, Yang X, Liu T, Song D, Xiao J
World J Surg Oncol 2015 May 8;13:176. doi: 10.1186/s12957-015-0589-3. PMID: 25951872Free PMC Article

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