TIO
MCID: ONC003
MIFTS: 46

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 53 59 73
Oncogenic Hypophosphatemic Osteomalacia 53 59
Tumor-Induced Osteomalacia 53 59
Tio 53 59
Osteomalacia, Tumor-Induced 13

Characteristics:

Orphanet epidemiological data:

59
oncogenic osteomalacia
Inheritance: Not applicable; Age of onset: All ages;

Classifications:



External Ids:

Orphanet 59 ORPHA352540
ICD10 via Orphanet 34 M83.8
UMLS via Orphanet 74 C1274103
UMLS 73 C1274103

Summaries for Oncogenic Osteomalacia

NIH Rare Diseases : 53 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 osteomalacia and rickets. 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 Mitogens 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 : 76 Oncogenic osteomalacia or tumor-induced osteomalacia, also known as oncogenic hypophosphatemic... 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 89)
# Related Disease Score Top Affiliating Genes
1 osteomalacia 31.2 DMP1 FGF23 PHEX PTH SFRP4
2 rickets 30.2 DMP1 FGF23 PHEX PTH
3 hyperparathyroidism 30.1 FGF23 PHEX PTH PTHLH
4 primary hyperparathyroidism 30.1 FGF23 PTH PTHLH
5 hypophosphatemic rickets, x-linked dominant 30.1 DMP1 FGF23 PHEX PTH
6 paraneoplastic syndromes 30.1 FGF23 PTHLH
7 hypophosphatemia 30.0 DMP1 FGF23 PHEX PTH SFRP4
8 secondary hyperparathyroidism of renal origin 30.0 FGF23 PTH
9 hypophosphatemic rickets, x-linked recessive 29.6 DMP1 FGF23 MEPE PHEX SFRP4
10 adamantinoma of long bones 10.5
11 opsismodysplasia 10.2 FGF23 PHEX
12 frasier syndrome 10.2
13 raine syndrome 10.2 DMP1 FGF23
14 familial tumoral calcinosis 10.2 FGF23 PHEX
15 hypervitaminosis d 10.2 FGF23 PTH
16 arterial calcification of infancy 10.1 FGF23 PHEX
17 calciphylaxis 10.1 FGF23 PTH
18 primary orthostatic tremor 10.1
19 isolated optic neuritis 10.1
20 hemangioma 10.1
21 impaired renal function disease 10.1 FGF23 PTH
22 pulmonary alveolar microlithiasis 10.1 FGF23 PTH
23 extraskeletal chondroma 10.1 PTH PTHLH
24 sclerosing hepatic carcinoma 10.1 PTH PTHLH
25 invasive malignant thymoma 10.1 PTH PTHLH
26 hypocalciuric hypercalcemia, familial, type iii 10.1 PTH PTHLH
27 enthesopathy 10.1 DMP1 FGF23 PHEX
28 clear cell adenoma 10.1 PTH PTHLH
29 autosomal recessive hypophosphatemic rickets 10.1 DMP1 FGF23 PHEX
30 degos 'en cocarde' erythrokeratoderma 10.1
31 renal osteodystrophy 10.1 FGF23 PTH
32 hypercalcemia, infantile, 1 10.1 PTH PTHLH
33 hyperphosphatemia 10.1 FGF23 PHEX PTH
34 bone remodeling disease 10.1 FGF23 PHEX PTH
35 prostate cancer 10.0
36 fanconi syndrome 10.0
37 cloacogenic carcinoma 10.0 PTH PTHLH
38 metaphyseal chondrodysplasia, jansen type 10.0 FGF23 PTH PTHLH
39 parathyroid gland disease 10.0 FGF23 PTH PTHLH
40 hypoparathyroidism 10.0 FGF23 PTH PTHLH
41 hypocalcemia, autosomal dominant 1 10.0 FGF23 PTH
42 pseudohypoparathyroidism 10.0 PTH PTHLH
43 pseudohypoparathyroidism, type ib 10.0 PTH PTHLH
44 bone disease 10.0 FGF23 PTH PTHLH
45 lacrimoauriculodentodigital syndrome 10.0 FGF23 FGF7
46 phosphorus metabolism disease 9.9 DMP1 FGF23 PHEX PTH
47 avascular necrosis of femoral head, primary, 1 9.9
48 small cell carcinoma 9.9
49 fibrous dysplasia 9.9
50 patulous eustachian tube 9.9

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 growth/size/body region MP:0005378 10.01 DMP1 FGF23 FGF7 PHEX PTH PTHLH
2 hematopoietic system MP:0005397 9.97 DMP1 FGF23 FGF7 MEPE PHEX PTH
3 homeostasis/metabolism MP:0005376 9.97 DMP1 FGF23 FGF7 PHEX PTH PTHLH
4 immune system MP:0005387 9.86 DMP1 FGF23 FGF7 MEPE PHEX PTH
5 limbs/digits/tail MP:0005371 9.63 DMP1 FGF23 PHEX PTH PTHLH SFRP4
6 renal/urinary system MP:0005367 9.43 DMP1 FGF23 FGF7 PHEX PTHLH SFRP4
7 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 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Somatostatin Approved, Investigational Phase 2,Early Phase 1 51110-01-1, 38916-34-6 53481605
2 Mitogens Phase 2,Phase 1
3 Pharmaceutical Solutions Phase 2,Early Phase 1
4 Antibodies Phase 2
5 Immunoglobulins Phase 2
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1
7 Hormone Antagonists Phase 1
8 Cinacalcet Hydrochloride Phase 1
9 Hormones Phase 1
10 Calcimimetic Agents Phase 1
11 phenylalanine Early Phase 1

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 BGJ398 for the Treatment of Tumor-Induced Osteomalacia Recruiting NCT03510455 Phase 2 BGJ398
2 Ga-DOTATATE PET for Phosphaturic Mesenchymal Tumors in Patients With Tumor Induced Osteomalacia Recruiting NCT03736564 Phase 1, Phase 2
3 A Study of KRN23 in Subjects With Tumor-Induced Osteomalacia or Epidermal Nevus Syndrome Active, not recruiting NCT02722798 Phase 2 KRN23
4 Study of KRN23 in Adult Subjects With Tumor-Induced Osteomalacia (TIO) or Epidermal Nevus Syndrome (ENS) Active, not recruiting NCT02304367 Phase 2
5 Evaluation of 68Gallium-DOTATATE PET/CT for Detecting Neuroendocrine Tumors Active, not recruiting NCT01967537 Phase 2 68Gallium DOTATATE
6 Cinacalcet for Fibroblast Growth Factor 23 (FGF23)-Mediated Hypophosphatemia (Hypophosphatemic Rickets) Terminated NCT01748812 Phase 1 Osteomalacia
7 68Ga-DOTATATE PET/CT in Oncogenic Osteomalacia Unknown status NCT01524016 Early Phase 1 68Ga-DOTATATE
8 Molecular Pathways Involved in the Pathogenesis and Behavior of Mesenchymal Phosphaturic Tumors Causing Oncogenic Osteomalacia Unknown status NCT02331966
9 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Unknown status NCT01660308
10 Catheterization to Locate Mesenchymal Tumors in Patients With Tumor-Induced Osteomalacia or Oncogenic Osteomalacia Completed NCT00099762
11 Individual Patient Compassionate Use of Burosumab Available NCT03775187

Search NIH Clinical Center for Oncogenic Osteomalacia

Genetic Tests for Oncogenic Osteomalacia

Anatomical Context for Oncogenic Osteomalacia

MalaCards organs/tissues related to Oncogenic Osteomalacia:

41
Bone, Kidney, Skin, Prostate, Colon, Pituitary, Thyroid

Publications for Oncogenic Osteomalacia

Articles related to Oncogenic Osteomalacia:

(show top 50) (show all 172)
# Title Authors Year
1
Occult phosphaturic mesenchymal tumor of femur cortex causing oncogenic osteomalacia: Diagnostic challenges and clinical outcomes. ( 29442350 )
2018
2
Oncogenic Osteomalacia. ( 29319792 )
2018
3
Ethmoid tumor and oncogenic osteomalacia: Case report and review of the literature. ( 30026073 )
2018
4
Oncogenic osteomalacia: diagnosis, localisation, and cure. ( 30084384 )
2018
5
Correction to Oncogenic osteomalacia: role of Ga-68 DOTANOC PET/CT scan in identifying the culprit lesion and its management. ( 29034744 )
2017
6
Oncogenic Osteomalacia: An Approach to Diagnosis with a Case Report. ( 28571152 )
2017
7
A case of oncogenic osteomalacia owing to inguinal tumor. ( 29744113 )
2017
8
Glomus tumor as a cause of oncogenic osteomalacia. ( 29354168 )
2017
9
Perioperative management of patients with severe hypophosphataemia secondary to oncogenic osteomalacia: Our experience and review of literature. ( 28794533 )
2017
10
Oncogenic Osteomalacia Secondary to a Metastatic Phosphaturic Mesenchymal Tumor in the Talus: A Case Report and Review of the Literature. ( 29244678 )
2017
11
Localization of Oncogenic Osteomalacia by Systemic Venous Sampling of Fibroblast Growth Factor 23. ( 28792142 )
2017
12
Oncogenic osteomalacia: role of Ga-68 DOTANOC PET/CT scan in identifying the culprit lesion and its management. ( 28181822 )
2017
13
Musculoskeletal oncogenic osteomalacia-An experience from a single centre in South India. ( 28123260 )
2017
14
Unusual calvarial tumour-oncogenic osteomalacia. ( 27010121 )
2016
15
"Slow and steady wins the race": the importance of perseverance in the management of oncogenic osteomalacia. ( 27900654 )
2016
16
177Lu-DOTATATE PRRT as promising new treatment approach in Recurrent Skull Base Phosphaturic Mesenchymal Tumor causing paraneoplastic oncogenic osteomalacia: a potential therapeutic application of PRRT beyond NET. ( 27634982 )
2016
17
A case of oncogenic osteomalacia due to occult nasal sinus tumor. ( 26136801 )
2015
18
Phosphaturic mesenchymal tumor of the tibia with oncogenic osteomalacia in a teenager. ( 25721582 )
2015
19
Oncogenic osteomalacia caused by an occult paranasal sinus tumor. ( 25682388 )
2015
20
Oncogenic osteomalacia caused by occult nasal mesenchymal tumor: a monster in the cave. ( 26634142 )
2015
21
Sinonasal glomangiopericytoma causing oncogenic osteomalacia. ( 24917914 )
2014
22
Oncogenic osteomalacia, raised FGF-23, and renal Fanconi syndrome. ( 22179099 )
2014
23
Oncogenic osteomalacia presenting as a crippling illness in a young man. ( 25263679 )
2014
24
Oncogenic osteomalacia induced by a sinonasal tumour: case report and review. ( 25090814 )
2014
25
Oncogenic Osteomalacia From a Primary Phosphaturic Mesenchymal Tumor of the Toe: A Case Report. ( 25441266 )
2014
26
Comparison of 18F-FDG and 68Ga DOTATATE PET/CT in Localization of Tumor Causing Oncogenic Osteomalacia. ( 24999675 )
2014
27
Oncogenic osteomalacia caused by phosphaturic mesenchymal tumours in the proximal and shaft of the tibia: a case report. ( 25163969 )
2014
28
Diagnostic Findings and Treatment in a 51-Year-Old Woman With Oncogenic Osteomalacia. ( 24423314 )
2013
29
Insufficiency fracture associated with oncogenic osteomalacia. ( 23319023 )
2013
30
Oncogenic osteomalacia -- hypophosphataemic spectrum from "benignancy" to "malignancy". ( 23220596 )
2013
31
Thoracic phosphaturic mesenchymal tumors causing oncogenic osteomalacia. ( 23618679 )
2013
32
Oncogenic osteomalacia due to FGF23-expressing colon adenocarcinoma. ( 23393166 )
2013
33
Oncogenic osteomalacia caused by renal cell carcinoma. ( 24217907 )
2013
34
Intracranial phosphaturic mesenchymal tumor, mixed connective tissue variant presenting without oncogenic osteomalacia. ( 23372968 )
2012
35
Oncogenic osteomalacia: loss of hypophosphatemia might be the key to avoid misdiagnosis. ( 23295300 )
2012
36
Anesthesia for oncogenic osteomalacia--a rare paraneoplastic syndrome. ( 23026174 )
2012
37
Striking pathology gold: a singular experience with daily reverberations: sinonasal hemangiopericytoma (glomangiopericytoma) and oncogenic osteomalacia. ( 22430770 )
2012
38
Comparison of whole body diffusion weighted magnetic resonance imaging and somatostatin receptor scintigraphy for oncogenic osteomalacia. ( 23134817 )
2012
39
Oncogenic osteomalacia should be considered in hypophosphatemia, bone pain and pathological fractures. ( 22744630 )
2012
40
Advanced prostate cancer as a cause of oncogenic osteomalacia: an underdiagnosed condition. ( 22552356 )
2012
41
Oncogenic osteomalacia from nasal cavity giant cell tumor. ( 22311466 )
2012
42
Matrix extracellular phosphoglycoprotein is expressed in causative tumors of oncogenic osteomalacia. ( 21739089 )
2012
43
Nasal hemangiopericytoma causing oncogenic osteomalacia. ( 22977716 )
2012
44
Oncogenic osteomalacia associated with mesenchymal tumor in the middle cranial fossa: a case report. ( 22747833 )
2012
45
Oncogenic osteomalacia illustrating the effect of fibroblast growth factor 23 on phosphate homeostasis. ( 26069775 )
2012
46
Oncogenic osteomalacia of the cervical spine: a rare case of curative resection and reconstruction. ( 21275557 )
2011
47
Oncogenic osteomalacia due to phosphaturic mesenchymal tumor of the craniofacial sinuses. ( 22461817 )
2011
48
Dual paraneoplastic syndromes: small cell lung carcinoma-related oncogenic osteomalacia, and syndrome of inappropriate antidiuretic hormone secretion: report of a case and review of the literature. ( 21886301 )
2011
49
Oncogenic osteomalacia diagnosed by blood pool scintigraphy. ( 23559714 )
2011
50
Case 165: Oncogenic osteomalacia. ( 21183494 )
2011

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 FGF23 PTH PTHLH
2 10.75 PTH PTHLH
3 10.1 FGF23 PTH

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 DMP1 FGF23 FGF7 MEPE PTH PTHLH
2 endoplasmic reticulum lumen GO:0005788 9.13 DMP1 FGF23 MEPE

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 G protein-coupled receptor signaling pathway GO:0007186 9.98 PTH PTHLH SSTR1 SSTR3 SSTR5
2 regulation of signaling receptor activity GO:0010469 9.86 FGF23 FGF7 PTH PTHLH
3 cellular protein metabolic process GO:0044267 9.77 DMP1 FGF23 MEPE
4 negative regulation of cell proliferation GO:0008285 9.77 PTHLH SFRP4 SSTR1 SSTR3 SSTR5
5 cell-cell signaling GO:0007267 9.76 PHEX PTH PTHLH SSTR3
6 neuropeptide signaling pathway GO:0007218 9.71 SSTR1 SSTR3 SSTR5
7 G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger GO:0007187 9.67 SSTR1 SSTR3 SSTR5
8 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.62 FGF23 FGF7
9 cerebellum development GO:0021549 9.61 SSTR1 SSTR3
10 cellular response to estradiol stimulus GO:0071392 9.61 SSTR1 SSTR3
11 response to starvation GO:0042594 9.6 SSTR1 SSTR3
12 cellular response to glucocorticoid stimulus GO:0071385 9.58 SSTR3 SSTR5
13 response to vitamin D GO:0033280 9.57 PHEX PTH
14 negative regulation of chondrocyte differentiation GO:0032331 9.55 PTH PTHLH
15 cellular response to vitamin D GO:0071305 9.52 FGF23 PHEX
16 cellular response to parathyroid hormone stimulus GO:0071374 9.51 FGF23 PHEX
17 bone mineralization GO:0030282 9.5 PHEX PTH PTHLH
18 hormone-mediated apoptotic signaling pathway GO:0008628 9.48 PTH SSTR3
19 skeletal system development GO:0001501 9.46 MEPE PHEX PTH PTHLH
20 cAMP metabolic process GO:0046058 9.43 PTH PTHLH
21 biomineral tissue development GO:0031214 9.43 DMP1 MEPE PHEX
22 response to sodium phosphate GO:1904383 9.4 FGF23 PHEX
23 phosphate ion homeostasis GO:0055062 9.13 FGF23 PTH SFRP4
24 somatostatin signaling pathway GO:0038170 8.8 SSTR1 SSTR3 SSTR5

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

# Name GO ID Score Top Affiliating Genes
1 1-phosphatidylinositol-3-kinase activity GO:0016303 9.32 FGF23 FGF7
2 fibroblast growth factor receptor binding GO:0005104 9.26 FGF23 FGF7
3 peptide hormone receptor binding GO:0051428 9.16 PTH PTHLH
4 neuropeptide binding GO:0042923 9.13 SSTR1 SSTR3 SSTR5
5 somatostatin receptor activity GO:0004994 8.8 SSTR1 SSTR3 SSTR5

Sources for Oncogenic Osteomalacia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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