TIO
MCID: ONC003
MIFTS: 37

Oncogenic Osteomalacia (TIO)

Categories: Bone diseases, Endocrine diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Oncogenic Osteomalacia

MalaCards integrated aliases for Oncogenic Osteomalacia:

Name: Oncogenic Osteomalacia 19 58 71 75
Oncogenic Hypophosphatemic Osteomalacia 19 58
Tumor-Induced Osteomalacia 19 58
Tio 19 58

Characteristics:


Age Of Onset:

All ages 58

Classifications:

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


External Ids:

ICD10 via Orphanet 32 M83.8
UMLS via Orphanet 72 C1274103
Orphanet 58 ORPHA352540
UMLS 71 C1274103

Summaries for Oncogenic Osteomalacia

GARD: 19 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.

MalaCards based summary: Oncogenic Osteomalacia, also known as oncogenic hypophosphatemic osteomalacia, is related to osteomalacia and hypophosphatemia. The drugs Pharmaceutical Solutions and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and bone marrow, and related phenotypes are hypophosphatemia and pathologic fracture

Orphanet: 58 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.

Wikipedia: 75 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 249)
# Related Disease Score Top Affiliating Genes
1 osteomalacia 11.1
2 hypophosphatemia 10.8
3 mesenchymal cell neoplasm 10.8
4 hemangiopericytoma, malignant 10.5
5 rickets 10.5
6 glass syndrome 10.5
7 charge syndrome 10.4
8 hyperparathyroidism 10.4
9 twin-reversed arterial perfusion sequence 10.4
10 hypophosphatemic rickets, x-linked recessive 10.3
11 hypophosphatemic rickets, x-linked dominant 10.3
12 adenoma 10.3
13 bone disease 10.3
14 spondyloarthropathy 1 10.2
15 osteogenic sarcoma 10.2
16 hemangioma 10.2
17 rare tumor 10.2
18 meningioma, familial 10.2
19 nephrocalcinosis 10.2
20 spondylitis 10.2
21 parathyroid adenoma 10.2
22 tn polyagglutination syndrome 10.2
23 global developmental delay, lung cysts, overgrowth, and wilms tumor 10.2
24 atypical teratoid rhabdoid tumor 10.2
25 paragangliomas 1 10.2
26 prostate cancer 10.2
27 fanconi syndrome 10.2
28 glomus tumor 10.2
29 fibrous histiocytoma 10.2
30 cutaneous fibrous histiocytoma 10.2
31 malignant peripheral nerve sheath tumor 10.2
32 nijmegen breakage syndrome 10.1
33 tenosynovial giant cell tumor 10.1
34 schimmelpenning-feuerstein-mims syndrome 10.1
35 neuroendocrine tumor 10.1
36 aminoaciduria 10.1
37 thyroid carcinoma 10.1
38 hypophosphatemic rickets, autosomal dominant 10.1
39 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 10.1
40 small cell carcinoma 10.1
41 fibroma 10.1
42 neurilemmoma 10.1
43 inappropriate adh syndrome 10.1
44 angiolipoma 10.1
45 myopathy 10.1
46 neurofibromatosis 10.1
47 syndrome of inappropriate antidiuretic hormone 10.1
48 paraneoplastic syndromes 10.1
49 chondromyxoid fibroma 10.1
50 gastric antral vascular ectasia 10.0

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



Diseases related to Oncogenic Osteomalacia

Symptoms & Phenotypes for Oncogenic Osteomalacia

Human phenotypes related to Oncogenic Osteomalacia:

58 30 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypophosphatemia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002148
2 pathologic fracture 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002756
3 hyperphosphaturia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003109
4 renal phosphate wasting 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000117
5 elevated circulating alkaline phosphatase concentration 30 Hallmark (90%) HP:0003155
6 bone pain 58 30 Frequent (33%) Frequent (79-30%)
HP:0002653
7 proximal muscle weakness 58 30 Frequent (33%) Frequent (79-30%)
HP:0003701
8 gait disturbance 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001288
9 abnormality of femur morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002823
10 osteosarcoma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002669
11 hypocalcemia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002901
12 tibial bowing 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002982
13 abnormality of fibula morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002991
14 fibrous dysplasia of the bones 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010734
15 abnormality of the tarsal bones 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001850
16 neoplasm of head and neck 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012288
17 abnormal pelvis bone morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0040163
18 giant cell tumor of bone 30 Occasional (7.5%) HP:0011847
19 abnormal vertebral morphology 58 30 Very rare (1%) Very rare (<4-1%)
HP:0003468
20 neurofibromas 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001067
21 carcinoma 58 30 Very rare (1%) Very rare (<4-1%)
HP:0030731
22 muscle weakness 58 Very frequent (99-80%)
23 abnormality of the foot 58 Occasional (29-5%)
24 increased susceptibility to fractures 58 Frequent (79-30%)
25 giant cell tumor of bone  58 Occasional (29-5%)
26 neoplasm of the skeletal system 58 Frequent (79-30%)
27 elevated alkaline phosphatase 58 Very frequent (99-80%)

Drugs & Therapeutics for Oncogenic Osteomalacia

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

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 4
2 Immunoglobulins Phase 4
3 Antibodies Phase 4
4
Infigratinib Approved, Investigational Phase 2 872511-34-7 53235510
5 Mitogens Phase 2
6 1,4,7,10-tetraazacyclododecane- 1,4,7,10-tetraacetic acid Phase 1
7 Chelating Agents Phase 1
8
Somatostatin Approved, Investigational Early Phase 1 38916-34-6, 51110-01-1 53481605 16129706
9
Dimenhydrinate Approved 523-87-5 10660
10
D-Phenylalanine Approved, Experimental, Investigational, Nutraceutical Early Phase 1 63-91-2, 673-06-3 6140 71567
11 Fluorodeoxyglucose F18

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 An Open-Label, Multi Center, Single-Cohort, Post-Marketing Phase 4 Study to Evaluate the Efficacy, Pharmacodynamics, and Safety of the Anti-FGF23 Antibody, KRN23, in Adult Chinese Patients With Tumor-Induced Osteomalacia (TIO) Recruiting NCT05357573 Phase 4 KRN23
2 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
3 A Phase 2 Open-Label Trial to Assess the Efficacy and Safety of KRN23 in Patients With Tumor-Induced Osteomalacia or Epidermal Nevus Syndrome and a Post-marketing Study of KRN23 Switched From the Phase 2 Trial Completed NCT02722798 Phase 2 KRN23
4 68Ga-DOTATATE PET for Localization of Phosphaturic Mesenchymal Tumors in Patients With Tumor Induced Osteomalacia Recruiting NCT03736564 Phase 1, Phase 2
5 BGJ398 for the Treatment of Tumor-Induced Osteomalacia Terminated NCT03510455 Phase 2 BGJ398
6 Head-to-head Comparison of 68Ga-DOTA-TATE and 68Ga-DOTA-JR11 PET/CT in Patients With Tumor-induced Osteomalacia Unknown status NCT04689893 Phase 1 68Ga-Dotatate;68Ga-DOTA-JR11
7 Molecular Pathways Involved in the Pathogenesis and Behavior of Mesenchymal Phosphaturic Tumors Unknown status NCT02331966
8 68Ga-DOTATATE PET/CT for Detection and Evaluation of the Causative Tumor of Oncogenic Osteomalacia Unknown status NCT01524016 Early Phase 1 68Ga-DOTATATE
9 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Unknown status NCT01660308
10 Tumor-induced Osteomalacia Disease Monitoring Program (TIO DMP) Recruiting NCT04783428
11 Study of the Diagnostic Value of Hybrid PET/MR and PET/CT in Neuroendocrine Diseases and Tumor Induced Osteomalacia Recruiting NCT04045834
12 Expanded Access to Burosumab Available NCT03775187

Search NIH Clinical Center for Oncogenic Osteomalacia

Genetic Tests for Oncogenic Osteomalacia

Anatomical Context for Oncogenic Osteomalacia

Organs/tissues related to Oncogenic Osteomalacia:

MalaCards : Bone, Skin, Bone Marrow, Prostate, Breast, Lymph Node, Kidney

Publications for Oncogenic Osteomalacia

Articles related to Oncogenic Osteomalacia:

(show top 50) (show all 752)
# Title Authors PMID Year
1
The efficacy and safety of burosumab in two patients with cutaneous skeletal hypophosphatemia syndrome. 62
36341949 2023
2
Tumour-induced osteomalacia: a rare cause of chronic pain and weakness. 62
35896375 2022
3
Reply to: appropriate dosing of burosumab in tumor-induced osteomalacia. 62
36454247 2022
4
Appropriate dosing of burosumab in tumor-induced osteomalacia. 62
36454246 2022
5
Tumour-induced osteomalacia due to residual benign glomangioma. 62
36357106 2022
6
Hyperparathyroidism in a Large Cohort of Chinese Patients with Tumor-Induced Osteomalacia. 62
36334263 2022
7
Tumor-induced osteomalacia. 62
36272746 2022
8
Tumor-induced osteomalacia combined with acromegaly: A case report. 62
36056464 2022
9
TUMOR-INDUCED OSTEOMALACIA: A COMPREHENSIVE REVIEW. 62
36327295 2022
10
Determination of FGF23 Levels for the Diagnosis of FGF23-Mediated Hypophosphatemia. 62
36093861 2022
11
New treatments for rare bone diseases: hypophosphatemic rickets/osteomalacia. 62
36382755 2022
12
Rickets guidance: part II-management. 62
35352187 2022
13
Novel Therapeutic Agents for Rare Diseases of Calcium and Phosphate Metabolism. 62
36049757 2022
14
Proceedings of the 2022 Santa Fe Bone Symposium: Current Concepts in the Care of Patients with Osteoporosis and Metabolic Bone Diseases. 62
36280582 2022
15
Phosphatonins: From Discovery to Therapeutics. 62
36210014 2022
16
Intracranial phosphaturic mesenchymal tumors. A case report and review of literature. 62
35880350 2022
17
Tumor-Induced Osteomalacia: A Systematic Clinical Review of 895 Cases. 62
35857061 2022
18
The Nose that Broke the Hip! Tumor Induced Osteomalacia Secondary to Phosphaturic Mesenchymal Nasal Tumor : A Case Report. 62
36452858 2022
19
Hemiarthroplasty for tumor-induced osteomalacia caused by tumor localized in femoral head: a case report. 62
36285172 2022
20
Tumor-induced osteomalacia. 62
36066446 2022
21
[Tumor-induced osteomalacia caused by an orbital tumor: a case report]. 62
36069094 2022
22
High prevalence of vertebral deformity in tumor-induced osteomalacia associated with impaired bone microstructure. 62
36097315 2022
23
Phosphaturic Mesenchymal Tumors in the Head and Neck Demonstrate a Broad Clinical and Morphologic Spectrum. 62
35119617 2022
24
Burosumab Treatment for Autosomal Recessive Hypophosphatemic Rickets Type 1 (ARHR1). 62
35896139 2022
25
Advances in understanding of phosphate homeostasis and related disorders. 62
35831119 2022
26
Ovarian Teratoma Causing Oncogenic Osteomalacia: An Instance of Serendipity. 62
35923504 2022
27
Clinical Challenges in Diagnosis, Tumor Localization and Treatment of Tumor-Induced Osteomalacia: Outcome of a Retrospective Surveillance. 62
35690913 2022
28
Long-term use of burosumab for the treatment of tumor-induced osteomalacia. 62
35925260 2022
29
Identification of Small-Molecule Inhibitors of Fibroblast Growth Factor 23 Signaling via In Silico Hot Spot Prediction and Molecular Docking to α-Klotho. 62
35868851 2022
30
Infigratinib Reduces Fibroblast Growth Factor 23 (FGF23) and Increases Blood Phosphate in Tumor-Induced Osteomalacia. 62
35991529 2022
31
Tumor-induced Osteomalacia: A Systematic Review and Individual Patient's Data Analysis. 62
35468192 2022
32
Tumor-induced osteomalacia characterized by "painful knee joint with difficulty in moving": a case report. 62
35804355 2022
33
[FGF23 tumor induced osteomalacia]. 62
36337019 2022
34
Phosphaturic Mesenchymal Tumor: An Unusual Cause of Stress Fractures Presenting to Sports Medicine. 62
35974843 2022
35
Phosphaturic Mesenchymal Tumor. 62
35589138 2022
36
Tumor induced osteomalacia - A long way toward correct diagnosis and management. 62
35281212 2022
37
Hypophosphatemia related to a neuro-endocrine tumor of the pancreas: A case report. 62
35337828 2022
38
Persistence and recurrence in tumor-induced osteomalacia: A systematic review of the literature and results from a national survey/case series. 62
35381903 2022
39
The Measurement and Interpretation of Fibroblast Growth Factor 23 (FGF23) Concentrations. 62
35665817 2022
40
A Case Report of Hypophosphatemia Leading to the Diagnosis of Mesothelioma. 62
35755540 2022
41
Diagnostic Utility of Somatostatin Receptor 2A Immunohistochemistry for Tumor-induced Osteomalacia. 62
35184184 2022
42
Challenging case of tumour-induced osteomalacia. 62
35589273 2022
43
Serum Metabolomics Reveals Dysregulation and Diagnostic Potential of Oxylipins in Tumor-induced Osteomalacia. 62
34904633 2022
44
FGF-23 transmitted tumor - induced hypophosphatemic osteomalacia: A rare case of a young woman with recurrent fractures and review of the literature. 62
35169537 2022
45
[Tumor localization and treatment of tumor-induced osteomalacia]. 62
35103802 2022
46
Bone Impairment in a Large Cohort of Chinese Patients With Tumor-Induced Osteomalacia Assessed by HR-pQCT and TBS. 62
34796540 2022
47
Phosphaturic Mesenchymal Tumor in the Maxillofacial Region: A Diagnostic Dilemma. 62
35400904 2022
48
Tumor - Induced Osteomalacia Associated with a Maxillary Tumor in Children: A Case Report and Review of the Literature. 62
35135186 2022
49
Pindborg Tumor-An Uncommon Odontogenic Tumor Detected by 68Ga-DOTATOC. 62
35204480 2022
50
False positive 68Ga-DOTATATE PET-CT in Hereditary hypophosphatemic-osteomalacia mimicking culprit lesions of tumor induced osteomalacia. 62
35197273 2022

Variations for Oncogenic Osteomalacia

Expression for Oncogenic Osteomalacia

Search GEO for disease gene expression data for Oncogenic Osteomalacia.

Pathways for Oncogenic Osteomalacia

GO Terms for Oncogenic Osteomalacia

Sources for Oncogenic Osteomalacia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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