TIO
MCID: ONC003
MIFTS: 43

Oncogenic Osteomalacia (TIO)

Categories: Bone diseases, Endocrine diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Oncogenic Osteomalacia

MalaCards integrated aliases for Oncogenic Osteomalacia:

Name: Oncogenic Osteomalacia 52 58 71
Oncogenic Hypophosphatemic Osteomalacia 52 58
Tumor-Induced Osteomalacia 52 58
Tio 52 58

Characteristics:

Orphanet epidemiological data:

58
oncogenic osteomalacia
Inheritance: Not applicable; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare renal diseases
Rare bone diseases
Rare endocrine diseases


External Ids:

ICD10 via Orphanet 33 M83.8
UMLS via Orphanet 72 C1274103
Orphanet 58 ORPHA352540
UMLS 71 C1274103

Summaries for Oncogenic Osteomalacia

NIH Rare Diseases : 52 Oncogenic osteomalacia is characterized by the development of a tumor that causes the bones to be weakened. This occurs when a tumor secretes a substance called fibroblast growth factor 23 (FGF23). FGF23 inhibits the ability of the kidneys to absorb phosphate. Phosphate is important for keeping bones strong and healthy. Therefore, this disease is characterized by a softening and weakening of the bones (osteomalacia ). The disease also results in multiple biochemical abnormalities including high levels of phosphate in the urine (hyperphosphaturia) and low levels of phosphate in the blood (hypophosphatemia ). The majority of tumors that cause oncogenic osteomalacia are small and slow-growing. These tumors most commonly occur in the skin, muscles, or bones of the extremities or in the paranasal sinuses around the head. Most of these tumors are benign, meaning they are not associated with cancer . The exact reason that the tumors associated with oncogenic osteomalacia develop is not known. The disease is diagnosed when a person experiences clinical features such as bone weakening and hyperphosphaturia and a tumor is found by imaging of the body. Treatment of the disease consists of surgical removal of the tumor. The symptoms of the disease, including the weakening of the bones, typically resolve once the tumor is removed.

MalaCards based summary : Oncogenic Osteomalacia, also known as oncogenic hypophosphatemic osteomalacia, is related to paraneoplastic syndromes and fanconi syndrome. An important gene associated with Oncogenic Osteomalacia is FGF23 (Fibroblast Growth Factor 23), and among its related pathways/superpathways are Parathyroid hormone synthesis, secretion and action and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. The drugs Somatostatin and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and skin, and related phenotypes are growth/size/body region and hematopoietic system

Wikipedia : 74 Oncogenic osteomalacia also known as oncogenic hypophosphatemic osteomalacia, is an uncommon disorder... more...

Related Diseases for Oncogenic Osteomalacia

Diseases related to Oncogenic Osteomalacia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 223)
# Related Disease Score Top Affiliating Genes
1 paraneoplastic syndromes 30.4 PTHLH FGF23
2 fanconi syndrome 30.3 PTH PHEX FGF23
3 nephrocalcinosis 30.2 PTH PHEX FGF23
4 hyperparathyroidism 30.2 PTHLH PTH PHEX FGF23
5 rickets 30.0 PTH PHEX MEPE FGF23 DMP1
6 ossifying fibroma 30.0 PTH MEPE FGF23
7 bone disease 30.0 PTHLH PTH PHEX FGF23
8 secondary hyperparathyroidism 29.9 PTH PHEX FGF23
9 hypoparathyroidism 29.8 PTHLH PTH FGF23
10 bone resorption disease 29.8 PTHLH PTH FGF23
11 nevus, epidermal 29.8 PHEX MEPE FGF23 DMP1
12 primary hyperparathyroidism 29.7 PTHLH PTH FGF23
13 hypophosphatemic rickets, x-linked recessive 29.7 SFRP4 PHEX MEPE FGF23 DMP1
14 hypophosphatemic rickets with hypercalciuria, hereditary 29.6 PTH PHEX FGF23 DMP1
15 hypophosphatemic rickets, x-linked dominant 29.6 PTH PHEX MEPE FGF23 DMP1
16 osteomalacia 29.5 SFRP4 PTHLH PTH PHEX MEPE FGF7
17 hyperphosphatemia 29.4 SFRP4 PTH PHEX FGF23
18 calcinosis 29.3 PTH PHEX MEPE FGF23 DMP1
19 hypophosphatemia 29.1 SFRP4 PTHLH PTH PHEX MEPE FGF7
20 osteoporosis 29.0 PTHLH PTH MEPE FGF23 DMP1
21 hypophosphatemic rickets, autosomal dominant 28.8 SFRP4 PTH PHEX MEPE FGF23 DMP1
22 meningioma, familial 28.7 SSTR5 SSTR3 SSTR1
23 triiodothyronine receptor auxiliary protein 10.7
24 mesenchymal cell neoplasm 10.6
25 hemangiopericytoma, malignant 10.5
26 opsismodysplasia 10.4 PHEX FGF23
27 familial tumoral calcinosis 10.3 PHEX FGF23
28 tn polyagglutination syndrome 10.3
29 obsolete: atypical teratoid/rhabdoid tumor 10.3
30 raine syndrome 10.3 FGF23 DMP1
31 pulmonary alveolar microlithiasis 10.3 MEPE FGF23
32 tracheal calcification 10.3 PTH FGF23
33 osteitis fibrosa 10.2 PTH FGF23
34 calciphylaxis 10.2 PTH FGF23
35 dental pulp necrosis 10.2 MEPE DMP1
36 osteogenic sarcoma 10.2
37 giant cell tumor 10.2
38 hemangioma 10.2
39 spondyloarthropathy 1 10.2
40 inflammatory spondylopathy 10.2
41 adenoma 10.2
42 spondylitis 10.2
43 impaired renal function disease 10.2 PTH FGF23
44 pediatric ovarian germ cell tumor 10.2 PTHLH PTH
45 malignant ovarian brenner tumor 10.2 PTHLH PTH
46 pediatric ovarian dysgerminoma 10.2 PTHLH PTH
47 prostate cancer 10.1
48 histiocytoma 10.1
49 back pain 10.1
50 rare tumor 10.1

Graphical network of the top 20 diseases related to Oncogenic Osteomalacia:



Diseases related to Oncogenic Osteomalacia

Symptoms & Phenotypes for Oncogenic Osteomalacia

MGI Mouse Phenotypes related to Oncogenic Osteomalacia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.97 DMP1 FGF23 FGF7 PHEX PTH PTHLH
2 hematopoietic system MP:0005397 9.92 DMP1 FGF23 FGF7 MEPE PHEX PTH
3 immune system MP:0005387 9.86 DMP1 FGF23 FGF7 MEPE PHEX PTH
4 limbs/digits/tail MP:0005371 9.63 DMP1 FGF23 PHEX PTH PTHLH SFRP4
5 renal/urinary system MP:0005367 9.43 DMP1 FGF23 FGF7 PHEX PTHLH SFRP4
6 skeleton MP:0005390 9.23 DMP1 FGF23 FGF7 MEPE PHEX PTH

Drugs & Therapeutics for Oncogenic Osteomalacia

Drugs for Oncogenic Osteomalacia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Somatostatin Approved, Investigational Phase 2 51110-01-1, 38916-34-6 53481605
2 Pharmaceutical Solutions Phase 2
3 Antibodies Phase 2
4 Immunoglobulins Phase 2
5
Cinacalcet Approved Phase 1 226256-56-0 156419
6
Calcium Approved, Nutraceutical Phase 1 7440-70-2 271
7 Mitogens Phase 1
8 Hormones Phase 1
9 Calcium, Dietary Phase 1
10 Hormone Antagonists Phase 1
11 Calcimimetic Agents Phase 1
12
Dimenhydrinate Approved 523-87-5 441281
13
Phenylalanine Approved, Investigational, Nutraceutical Early Phase 1 63-91-2 6140
14
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
15
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
16
Calcitriol Approved, Nutraceutical 32222-06-3 134070 5280453
17 Trace Elements
18 Vitamins
19 Micronutrients
20 Ergocalciferols
21 Nutrients
22 Vitamin D2
23 Calciferol
24 Vasoconstrictor Agents
25 Fluorodeoxyglucose F18

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Evaluation of (68)Gallium- DOTATATE PET/CT for Detecting Primary and Metastatic Neuroendocrine Tumors Completed NCT01967537 Phase 2 68Gallium DOTATATE
2 BGJ398 for the Treatment of Tumor-Induced Osteomalacia Recruiting NCT03510455 Phase 2 BGJ398
3 68Ga-DOTATATE PET for Localization of Phosphaturic Mesenchymal Tumors in Patients With Tumor Induced Osteomalacia Recruiting NCT03736564 Phase 1, Phase 2
4 A Phase 2 Open-Label Trial to Assess the Efficacy and Safety of KRN23 in Patients With Tumor-Induced Osteomalacia or Epidermal Nevus Syndrome Active, not recruiting NCT02722798 Phase 2 KRN23
5 A Phase 2 Open-Label Trial to Assess the Efficacy and Safety of KRN23, an Antibody to FGF23, in Subjects With Tumor-Induced Osteomalacia (TIO) or Epidermal Nevus Syndrome (ENS)-Associated Osteomalacia Active, not recruiting NCT02304367 Phase 2
6 Open-label Dose-titration Study of the Tolerability and Efficacy of Cinacalcet to Treat Fibroblast Growth Factor 23 (FGF23)-Mediated Hypophosphatemia Terminated NCT01748812 Phase 1 Osteomalacia
7 68Ga-DOTATATE PET/CT for Detection and Evaluation of the Causative Tumor of Oncogenic Osteomalacia Unknown status NCT01524016 Early Phase 1 68Ga-DOTATATE
8 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Unknown status NCT01660308
9 Molecular Pathways Involved in the Pathogenesis and Behavior of Mesenchymal Phosphaturic Tumors Unknown status NCT02331966
10 Selective Venous Catheterization for the Localization of Phosphaturic Mesenchymal Tumors Completed NCT00099762
11 Effect of Different Vitamin D Preparations on Circulating FGF23 Levels in Vitamin D Deficient Caucasian and African-American Men and Women Completed NCT00957879
12 Studies in Phosphorus Metabolism Completed NCT00066183
13 Study of the Diagnostic Value of Hybrid PET/MR and PET/CT in Neuroendocrine Diseases and Tumor Induced Osteomalacia Recruiting NCT04045834

Search NIH Clinical Center for Oncogenic Osteomalacia

Genetic Tests for Oncogenic Osteomalacia

Anatomical Context for Oncogenic Osteomalacia

MalaCards organs/tissues related to Oncogenic Osteomalacia:

40
Bone, Kidney, Skin, Prostate, Breast, Brain, Lung

Publications for Oncogenic Osteomalacia

Articles related to Oncogenic Osteomalacia:

(show top 50) (show all 575)
# Title Authors PMID Year
1
Positive HLA-B27 and sacroiliitis is not always spondyloarthritis. 61
31709741 2019
2
Phosphaturic mesenchymal tumor: Case report. 61
31681451 2019
3
Oncogenic osteomalacia. 61
31070754 2019
4
Tumor-induced osteomalacia caused by a phosphaturic mesenchymal tumor of the femur. 61
31567385 2019
5
Nonremission and Recurrent Tumor-Induced Osteomalacia: A Retrospective Study. 61
31643101 2019
6
Worsening of unrecognized tumor-induced osteomalacia with inadvertent use of recombinant human parathyroid hormone. 61
31566250 2019
7
FGF23 and Associated Disorders of Phosphate Wasting. 61
31599133 2019
8
Tumor induced osteomalacia in head and neck region: single center experience and systematic review. 61
31505461 2019
9
Tumor-induced Osteomalacia due to a Phosphaturic Mesenchymal Tumor in the Cervical Spine: A Case Report and Literature Review. 61
31744971 2019
10
Infiltrative nature of tumor-induced osteomalacia lesions in bone: Correlation between radiological and histopathological features. 61
30797665 2019
11
Oncogenic osteomalacia caused by a phosphaturic mesenchymal tumor of the femur: A case report. 61
31423441 2019
12
High FGF23 levels are associated with impaired trabecular bone microarchitecture in patients with osteoporosis. 61
31044263 2019
13
[Tumor-induced osteomalacia caused by nasal hemangiopericytoma: a case report]. 61
31434378 2019
14
[Tumor-induced Hypophosphatemic Osteomalacia Caused by a Chest Wall Tumor]. 61
31353346 2019
15
FGF23, Hypophosphatemia, and Emerging Treatments. 61
31485552 2019
16
Burosumab in tumor-induced osteomalacia: A case report. 61
31382017 2019
17
Tumor-induced osteomalacia - Current imaging modalities and a systematic approach for tumor localization. 61
31029010 2019
18
Successful Management Of Tumor-Induced Osteomalacia with Radiofrequency Ablation: A Case Series. 61
31372587 2019
19
Ga-68 DOTATATE Positron Emission Tomography-Computed Tomography Imaging in Oncogenic Osteomalacia: Experience from a Tertiary Level Hospital in South India. 61
31293296 2019
20
Phosphaturic mesenchymal tumors: A review and update. 61
31301876 2019
21
Tumor-Induced Osteomalacia Treated as Ankylosing Spondylitis and Osteoporotic Compression Fracture. 61
31356398 2019
22
Metastatic prostate cancer presenting as tumour-induced osteomalacia. 61
31315844 2019
23
Successful treatment of tumor-induced osteomalacia causing by phosphaturic mesenchymal tumor of the foot. 61
31277164 2019
24
Molecular Imaging in Diagnosis of Tumor-induced Osteomalacia. 61
30078476 2019
25
Oncogenic osteomalacia and metastatic breast cancer: a case report and review of the literature. 61
31275898 2019
26
Giant Cell Tumor of Tendon Sheath Revealed on 68Ga-DOTA-TATE PET/CT in a Patient With Suspicious Tumor-Induced Osteomalacia. 61
30932980 2019
27
Oncogenic Osteomalacia with Elevated Fibroblast Growth Factor 23: A Rare Case of Paranasal Sinus Tumor Onset. 61
31423395 2019
28
Tumor-induced hypophosphatemic osteomalacia caused by a mesenchymal tumor of the mandible managed by a segmental mandibulectomy and microvascular reconstruction with a free fibula flap. 61
30859653 2019
29
Tumor-induced osteomalacia with the culprit lesion located in the palm: a case report. 61
30859855 2019
30
68Ga-DOTANOC PET/CT in an Atypical Extraskeletal Paravertebral Hemangioma Mimicking as Neurogenic Tumor in a Known Case of Breast Cancer. 61
30829863 2019
31
Spinal phosphaturic mesenchymal tumors: Case report and literature review. 61
30660478 2019
32
Tumour-induced Osteomalacia Secondary to Intracranial Tumours - Report of 2 Cases. 61
31299850 2019
33
Tumor-induced osteomalacia with IgG4-related lymph node disease. 61
30958445 2019
34
[Tumor-induced osteomalacia caused by an FGF23-secreting myopericytoma : Case report and literature review]. 61
30937490 2019
35
99mTc-HYNIC-TOC in the Evaluation of Recurrent Tumor-Induced Osteomalacia. 61
30672760 2019
36
Comparison of surgical treatments of tumor-induced osteomalacia in different locations in the lower limbs: A retrospective study. 61
30882679 2019
37
Treating osteoporosis: a near miss in an unusual case of FGF-23 mediated bone loss. 61
30878966 2019
38
Tumor-induced osteomalacia: experience from three tertiary care centres In India. 61
30726771 2019
39
Phosphaturic mesenchymal tumor with an admixture of epithelial and mesenchymal elements in the jaws: clinicopathological and immunohistochemical analysis of 22 cases with literature review. 61
30206408 2019
40
Reconstruction Using Frozen Autograft for Disseminated Phosphaturic Mesenchymal Tumor of the Humerus after a Pathological Fracture. 61
31565455 2019
41
A Rare Case of Phosphaturic Tumor/Oncogenic Osteomalacia - Diagnostic Challenges and Management Algorithm. 61
31245319 2019
42
Phosphaturic Mesenchymal Tumors Involving Skull Bones: Report of Two Rare Cases. 61
30937047 2019
43
Tumor-Induced Osteomalacia and the Importance of Plasma Fibroblast Growth Factor 23 as an Indicator: Diagnostic Delay Leads to a Suicide Attempt. 61
31850815 2019
44
[Paraneoplastic rheumatologic syndromes in the elderly]. 61
31586977 2019
45
Autosomal Dominant Hypophosphatemic Rickets Presenting in a Phenotypically Normal Adult Female. 61
30949368 2019
46
Sinonasal hemangiopericytoma caused hypophosphatemic osteomalacia: A case report. 61
30593185 2018
47
Tumor-induced osteomalacia. 61
30775554 2018
48
Increased Activity Due to Fractures Does Not Significantly Affect the Accuracy of 68Ga-DOTATATE PET/CT in the Detection of Culprit Tumor in the Evaluation of Tumor-Induced Osteomalacia. 61
30273206 2018
49
Successful Localization Using 68Ga-DOTATOC PET/CT of a Phosphaturic Mesenchymal Tumor Causing Osteomalacia in a Patient with Concurrent Follicular Lymphoma. 61
30538778 2018
50
Phosphaturic mesenchymal tumors: what an endocrinologist should know. 61
29446010 2018

Variations for Oncogenic Osteomalacia

Expression for Oncogenic Osteomalacia

Search GEO for disease gene expression data for Oncogenic Osteomalacia.

Pathways for Oncogenic Osteomalacia

Pathways related to Oncogenic Osteomalacia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.82 PTHLH PTH FGF23
2 10.75 PTHLH PTH
3 10.1 PTH FGF23

GO Terms for Oncogenic Osteomalacia

Cellular components related to Oncogenic Osteomalacia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.17 SFRP4 PTHLH PTH MEPE FGF7 FGF23

Biological processes related to Oncogenic Osteomalacia according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 9.97 SSTR5 SSTR3 SSTR1 PTHLH PTH
2 cellular protein metabolic process GO:0044267 9.75 MEPE FGF23 DMP1
3 cell-cell signaling GO:0007267 9.73 SSTR3 PTHLH PTH PHEX
4 negative regulation of cell proliferation GO:0008285 9.72 SSTR5 SSTR3 SSTR1 SFRP4 PTHLH
5 neuropeptide signaling pathway GO:0007218 9.69 SSTR5 SSTR3 SSTR1
6 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger GO:0007187 9.65 SSTR5 SSTR3 SSTR1
7 bone mineralization GO:0030282 9.6 PTHLH PHEX
8 response to starvation GO:0042594 9.59 SSTR3 SSTR1
9 cellular response to estradiol stimulus GO:0071392 9.58 SSTR3 SSTR1
10 cellular response to glucocorticoid stimulus GO:0071385 9.56 SSTR5 SSTR3
11 negative regulation of chondrocyte differentiation GO:0032331 9.55 PTHLH PTH
12 response to vitamin D GO:0033280 9.54 PTH PHEX
13 cellular response to vitamin D GO:0071305 9.52 PHEX FGF23
14 cellular response to parathyroid hormone stimulus GO:0071374 9.49 PHEX FGF23
15 hormone-mediated apoptotic signaling pathway GO:0008628 9.46 SSTR3 PTH
16 skeletal system development GO:0001501 9.46 PTHLH PTH PHEX MEPE
17 biomineral tissue development GO:0031214 9.43 PHEX MEPE DMP1
18 response to sodium phosphate GO:1904383 9.4 PHEX FGF23
19 cAMP metabolic process GO:0046058 9.37 PTHLH PTH
20 phosphate ion homeostasis GO:0055062 9.13 SFRP4 PTH FGF23
21 somatostatin signaling pathway GO:0038170 8.8 SSTR5 SSTR3 SSTR1

Molecular functions related to Oncogenic Osteomalacia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptide binding GO:0042277 9.33 SSTR5 SSTR3 SSTR1
2 fibroblast growth factor receptor binding GO:0005104 9.32 FGF7 FGF23
3 peptide hormone receptor binding GO:0051428 9.26 PTHLH PTH
4 neuropeptide binding GO:0042923 9.13 SSTR5 SSTR3 SSTR1
5 somatostatin receptor activity GO:0004994 8.8 SSTR5 SSTR3 SSTR1

Sources for Oncogenic Osteomalacia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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