TIO
MCID: ONC003
MIFTS: 42

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 20 58 70
Oncogenic Hypophosphatemic Osteomalacia 20 58
Tumor-Induced Osteomalacia 20 58
Tio 20 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 71 C1274103
Orphanet 58 ORPHA352540
UMLS 70 C1274103

Summaries for Oncogenic Osteomalacia

GARD : 20 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 hyperparathyroidism. 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 Immunoglobulins and Antibodies have been mentioned in the context of this disorder. Affiliated tissues include bone, prostate and lymph node, and related phenotypes are hematopoietic system and homeostasis/metabolism

Wikipedia : 73 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 230)
# Related Disease Score Top Affiliating Genes
1 paraneoplastic syndromes 30.4 PTHLH FGF23
2 hyperparathyroidism 30.3 PTHLH PTH PHEX FGF23
3 rickets 30.3 PTH PHEX MEPE FGF23 DMP1
4 fanconi syndrome 30.2 PTH PHEX FGF23
5 bone disease 30.1 PTHLH PTH PHEX FGF23
6 osteomalacia 30.1 SFRP4 PTHLH PTH PHEX MEPE FGF7
7 nevus, epidermal 30.0 PHEX MEPE FGF23
8 hypophosphatemic rickets, x-linked recessive 30.0 SFRP4 PHEX MEPE FGF23 DMP1
9 secondary hyperparathyroidism 30.0 PTH PHEX FGF23
10 hypoparathyroidism 29.9 PTHLH PTH FGF23
11 primary hyperparathyroidism 29.8 PTHLH PTH FGF23
12 calcinosis 29.8 PHEX MEPE FGF23 DMP1
13 hypophosphatemia 29.7 SFRP4 PTHLH PTH PHEX MEPE FGF7
14 hypophosphatemic rickets with hypercalciuria, hereditary 29.7 PTH PHEX MEPE FGF23
15 bone resorption disease 29.7 PTHLH PTH FGF23
16 hyperphosphatemia 29.6 SFRP4 PTH PHEX FGF23
17 hypophosphatemic rickets, autosomal dominant 29.5 SFRP4 PTH PHEX MEPE FGF23
18 hypophosphatemic rickets, x-linked dominant 29.4 SFRP4 PTH PHEX MEPE FGF23 DMP1
19 osteoporosis 29.1 PTHLH PTH MEPE FGF23 DMP1
20 mesenchymal cell neoplasm 10.6
21 hemangiopericytoma, malignant 10.5
22 triiodothyronine receptor auxiliary protein 10.5
23 opsismodysplasia 10.3 PHEX FGF23
24 raine syndrome 10.3 FGF23 DMP1
25 familial tumoral calcinosis 10.3 PHEX FGF23
26 osteogenic sarcoma 10.2
27 hemangioma 10.2
28 tracheal calcification 10.2 PTH FGF23
29 arterial calcification of infancy 10.2 PHEX FGF23
30 nephrolithiasis/osteoporosis, hypophosphatemic, 1 10.2 PTH FGF23
31 osteogenesis imperfecta, type vi 10.2 PHEX MEPE
32 pulmonary alveolar microlithiasis 10.2 MEPE FGF23
33 dental pulp necrosis 10.2 MEPE DMP1
34 calciphylaxis 10.2 PTH FGF23
35 osteitis fibrosa 10.2 PTH FGF23
36 osteoblastoma 10.2 MEPE FGF23
37 vitamin d-dependent rickets 10.2 PTH PHEX
38 tn polyagglutination syndrome 10.2
39 spondyloarthropathy 1 10.2
40 inflammatory spondylopathy 10.2
41 adenoma 10.2
42 spondylitis 10.2
43 dentin dysplasia 10.2 MEPE DMP1
44 fibrous histiocytoma 10.2
45 rare tumor 10.2
46 pediatric ovarian germ cell tumor 10.1 PTHLH PTH
47 malignant ovarian brenner tumor 10.1 PTHLH PTH
48 pediatric ovarian dysgerminoma 10.1 PTHLH PTH
49 sclerosing hepatic carcinoma 10.1 PTHLH PTH
50 invasive malignant thymoma 10.1 PTHLH PTH

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.97 DMP1 FGF23 FGF7 MEPE PHEX PTH
2 homeostasis/metabolism MP:0005376 9.97 DMP1 FGF23 FGF7 PHEX PTH PTHLH
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 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins Phase 4
2 Antibodies Phase 4
3 Antibodies, Monoclonal Phase 4
4
Somatostatin Approved, Investigational Phase 2 38916-34-6, 51110-01-1 53481605
5 Pharmaceutical Solutions Phase 2
6 Mitogens Phase 2
7
Dimenhydrinate Approved 523-87-5 441281
8
Phenylalanine Approved, Investigational, Nutraceutical Early Phase 1 63-91-2 6140
9 Fluorodeoxyglucose F18

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 An Open Label Trial to Assess the Safety and Efficacy of KRN23, an Investigational Antibody to FGF23, in a Single Pediatric Patient With Epidermal Nevus Syndrome (ENS) and Associated Hypophosphatemic Rickets Active, not recruiting NCT04320316 Phase 4 Crysvita (burosumab-twza) Treatment
2 Evaluation of (68)Gallium- DOTATATE PET/CT for Detecting Primary and Metastatic Neuroendocrine Tumors Completed NCT01967537 Phase 2 68Gallium DOTATATE
3 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 Completed NCT02304367 Phase 2
4 BGJ398 for the Treatment of Tumor-Induced Osteomalacia Completed NCT03510455 Phase 2 BGJ398
5 68Ga-DOTATATE PET for Localization of Phosphaturic Mesenchymal Tumors in Patients With Tumor Induced Osteomalacia Recruiting NCT03736564 Phase 1, Phase 2
6 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
7 Head-to-head Comparison of 68Ga-DOTA-TATE and 68Ga-DOTA-JR11 PET/CT in Patients With Tumor-induced Osteomalacia Recruiting NCT04689893 Phase 1 68Ga-Dotatate;68Ga-DOTA-JR11
8 Molecular Pathways Involved in the Pathogenesis and Behavior of Mesenchymal Phosphaturic Tumors Unknown status NCT02331966
9 68Ga-DOTATATE PET/CT for Detection and Evaluation of the Causative Tumor of Oncogenic Osteomalacia Unknown status NCT01524016 Early Phase 1 68Ga-DOTATATE
10 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Unknown status NCT01660308
11 Study of the Diagnostic Value of Hybrid PET/MR and PET/CT in Neuroendocrine Diseases and Tumor Induced Osteomalacia Recruiting NCT04045834
12 Tumor-induced Osteomalacia Disease Monitoring Program (TIO DMP) Not yet recruiting NCT04783428

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, Prostate, Lymph Node, Cortex, Colon, Endothelial, Tongue

Publications for Oncogenic Osteomalacia

Articles related to Oncogenic Osteomalacia:

(show top 50) (show all 628)
# Title Authors PMID Year
1
Hiding in plain sight: Gene panel and genetic markers reveal 26-year undiagnosed tumor-induced osteomalacia of the rib concurrently misdiagnosed as X-linked hypophosphatemia. 61
33490314 2021
2
A case report of mesenchymal scapular FGF secreting tumor: Importance of follow up in tumor induced osteomalacia. 61
33664928 2021
3
The genetic polymorphisms of XPR1 and SCL34A3 are associated with Fanconi syndrome in Chinese patients of tumor-induced osteomalacia. 61
32725396 2021
4
Clinicopathologic and molecular features of six cases of phosphaturic mesenchymal tumor. 61
33151412 2021
5
Hyperphosphatemia with elevated serum PTH and FGF23, reduced 1,25(OH)2D and normal FGF7 concentrations characterize patients with CKD. 61
33784965 2021
6
Diagnostic performance of 68Ga-DOTATOC PET/CT in tumor-induced osteomalacia. 61
33582980 2021
7
Diagnostic utility of Ga-68 DOTA-SSTR and F-18 FDG PET/CT in the detection of culprit tumours causing osteomalacia: a systematic review and meta-analysis. 61
33625187 2021
8
Tumor-Induced Osteomalacia: Treatment Progress Using Burosumab, an Anti-FGF23 Monoclonal Antibody. 61
33740291 2021
9
Persistent phosphaturic mesenchymal tumor causing tumor-induced osteomalacia treated with image-guided ablation. 61
33655402 2021
10
Prognostic Value of Positive Presurgical FDG PET/CT in the Evaluation of Tumor-Induced Osteomalacia. 61
33351512 2021
11
Comparison of 18 F-FDG PET/CT and 68 Ga-DOTATATE PET/CT in the Targeted Imaging of Culprit Tumors Causing Osteomalacia. 61
33709632 2021
12
Interim Analysis of a Phase 2 Open-Label Trial Assessing Burosumab Efficacy and Safety in Patients With Tumor-Induced Osteomalacia. 61
32967046 2021
13
FGF23-related hypophosphatemic rickets/osteomalacia: diagnosis and new treatment. 61
33295878 2021
14
Hypophosphatemia and FGF23 tumor-induced osteomalacia in two cases of metastatic breast cancer. 61
33191899 2021
15
A Normal FGF23 Does Not Preclude Tumor-Induced Osteomalacia. 61
33615107 2021
16
Burden of Disease in Patients With Tumor-Induced Osteomalacia. 61
33615105 2021
17
Persistent urinary phosphate wasting in a patient with metastatic breast cancer: What's your diagnosis? 61
33141014 2021
18
Application of ultrasound-guided biopsy and percutaneous radiofrequency ablation in 2 cases with phosphaturic mesenchymal tumor and literature review. 61
32924995 2021
19
A Challenging Case of Tumor-Induced Osteomalacia. 61
32712146 2021
20
Paraneoplastic Secretion of Multiple Phosphatonins From a Deep Fibrous Histiocytoma Causing Oncogenic Osteomalacia. 61
33462615 2021
21
Tumor-Induced Osteomalacia. 61
32504138 2021
22
Usefulness of 68Ga-DOTATOC PET/CT to localize the culprit tumor inducing osteomalacia. 61
33469091 2021
23
Ameloblastic Fibroodontoma of Mandible Causing Tumor Induced Osteomalacia: A Case Report with Review of 88 Phosphaturic Oral Neoplasms. 61
33394371 2021
24
Nasal hemangiopericytoma presenting with oncogenic osteomalasia: A case report and literature review. 61
33446319 2021
25
New Therapies for Hypophosphatemia-Related to FGF23 Excess. 61
32504139 2021
26
Burosumab for the Treatment of Tumor-Induced Osteomalacia. 61
33338281 2020
27
Effects of burosumab on osteocalcin and bone mineral density in patient with 15-year history of nonremission tumor-induced osteomalacia initially treated with conventional therapy: Case report. 61
33294501 2020
28
Oncogenic osteomalacia due to phosphaturic mesenchymal tumour in the upper thoracic spine. 61
33328210 2020
29
Clinical Characteristics and Surgical Outcomes of Sinonasal Lesions Associated With Tumor-Induced Osteomalacia. 61
33290165 2020
30
Targeted FGFR Blockade for the Treatment of Tumor-Induced Osteomalacia. 61
32905668 2020
31
Peptide Receptor Radionuclide Therapy for a Phosphaturic Mesenchymal Tumor. 61
33442358 2020
32
Tumor-Induced Osteomalacia Caused by a Phosphaturic Mesenchymal Tumor of the Sole Presenting as a Crippling Illness in a Postmenopausal Woman. 61
32622675 2020
33
Diagnostic value of 68Ga-DOTA-TATE PET/CT imaging for tumor- induced osteomalacia. 61
32921125 2020
34
Surgical margin for phosphaturic mesenchymal tumors in soft tissues: An analysis of the radiological histopathological correlation. 61
32798110 2020
35
Tumor-induced rickets-osteomalacia: an enigma. 61
32681779 2020
36
Long-term bone mineral density changes after surgical cure of patients with tumor-induced osteomalacia. 61
32185436 2020
37
Tumor-induced osteomalacia in an adolescent with an undifferentiated embryonal sarcoma of the liver. 61
32383825 2020
38
Otolaryngologist's Encounter With Oncogenic Osteomalacia. 61
32659121 2020
39
Culprit Tumor as an Unexpected Extraosseous MDP Activity on Bone Scintigraphy in a Patient With Tumor-Induced Osteomalacia. 61
32366790 2020
40
Mediastinal Epithelioid Hemangioendothelioma Revealed on 68Ga-DOTATATE PET/CT. 61
32209882 2020
41
Neurofibromatosis type 1 associated with hypophosphatemic osteomalacia due to hypersecretion of fibroblast growth factor 23: a case report. 61
32384911 2020
42
Surgical Treatment and Outcomes for Sinonasal and Skull Base Phosphaturic Mesenchymal Tumors. 61
32122245 2020
43
An intracranial mass causing tumor-induced osteomalacia (TIO): Rapid and complete resolution of severe osteoporosis after surgical resection. 61
32140194 2020
44
Occult tumour-induced osteomalacia causing lesion detected by FDG-PET/CT scan. 61
32939204 2020
45
Successful and effective treatment of oncogenic osteomalacia with bone cement. 61
32022791 2020
46
Phosphaturic Mesenchymal Tumors from Head to Toe: Imaging Findings and Role of the Radiologist in Diagnosing Tumor-Induced Osteomalacia. 61
32257040 2020
47
Performance of 68Ga-DOTA-SST PET/CT, octreoscan SPECT/CT and 18F-FDG PET/CT in the detection of culprit tumors causing osteomalacia: a meta-analysis. 61
32000173 2020
48
Nonremission and Recurrent Tumor-Induced Osteomalacia: A Retrospective Study. 61
31643101 2020
49
A rare cause of atraumatic fractures: case series of four patients with tumor-induced osteomalacia. 61
32655879 2020
50
[Tumor-induced osteomalacia caused by an FGF23-secreting myopericytoma : Case report and literature review]. 61
30937490 2020

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 cell-cell signaling GO:0007267 9.76 SSTR3 PTHLH PTH PHEX
3 cellular protein metabolic process GO:0044267 9.75 MEPE FGF23 DMP1
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 skeletal system development GO:0001501 9.46 PTHLH PTH PHEX MEPE
16 hormone-mediated apoptotic signaling pathway GO:0008628 9.43 SSTR3 PTH
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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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