Oncogenic osteomalacia

disease

On this page

Also known as Oncogenic hypophosphatemic osteomalaciaOOOOMTIOtumor-induced osteomalacia

Summary

Oncogenic osteomalacia (MONDO:0018124) is a disease and 9 clinical trials. Top therapeutic interventions include burosumab, edotreotide gallium ga-68, and infigratinib. A subtype of osteomalacia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

Prevalence: 1-9 / 1 000 000 (Europe) [Orphanet-validated]
Phenotypes (HPO): 35
Clinical trials: 9

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		400	Worldwide	Validated
Point prevalence	1-9 / 1 000 000	0.7	Europe	Validated

Signs & symptoms

Clinical features (HPO)

35 HPO clinical features (Orphanet curated; top 35 by frequency):

HPO ID	Term	Frequency
HP:0000117	Renal phosphate wasting	Very frequent (80-99%)
HP:0001324	Muscle weakness	Very frequent (80-99%)
HP:0002148	Hypophosphatemia	Very frequent (80-99%)
HP:0002756	Pathologic fracture	Very frequent (80-99%)
HP:0003109	Hyperphosphaturia	Very frequent (80-99%)
HP:0003155	Elevated circulating alkaline phosphatase concentration	Very frequent (80-99%)
HP:0000121	Nephrocalcinosis	Frequent (30-79%)
HP:0002653	Bone pain	Frequent (30-79%)
HP:0002659	Increased susceptibility to fractures	Frequent (30-79%)
HP:0002749	Osteomalacia	Frequent (30-79%)
HP:0003701	Proximal muscle weakness	Frequent (30-79%)
HP:0006487	Bowing of the long bones	Frequent (30-79%)
HP:0010622	Neoplasm of the skeletal system	Frequent (30-79%)
HP:0012052	Low serum calcitriol	Frequent (30-79%)
HP:6000489	Abnormal circulating fibroblast growth factor 23 concentration	Frequent (30-79%)
HP:0000768	Pectus carinatum	Occasional (5-29%)
HP:0000787	Nephrolithiasis	Occasional (5-29%)
HP:0001288	Gait disturbance	Occasional (5-29%)
HP:0001510	Growth delay	Occasional (5-29%)
HP:0001760	Abnormal foot morphology	Occasional (5-29%)
HP:0001850	Abnormality of the tarsal bones	Occasional (5-29%)
HP:0002093	Respiratory insufficiency	Occasional (5-29%)
HP:0002669	Osteosarcoma	Occasional (5-29%)
HP:0002808	Kyphosis	Occasional (5-29%)
HP:0002823	Abnormality of femur morphology	Occasional (5-29%)
HP:0002901	Hypocalcemia	Occasional (5-29%)
HP:0002982	Tibial bowing	Occasional (5-29%)
HP:0002991	Abnormal fibula morphology	Occasional (5-29%)
HP:0004912	Hypophosphatemic rickets	Occasional (5-29%)
HP:0010734	Fibrous dysplasia of the bones	Occasional (5-29%)
HP:0011847	Giant cell tumor of bone	Occasional (5-29%)
HP:0012288	Neoplasm of head and neck	Occasional (5-29%)
HP:0040163	Abnormal pelvis bone morphology	Occasional (5-29%)
HP:0003468	Abnormal vertebral morphology	Very rare (<1-4%)
HP:0030731	Carcinoma	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	Oncogenic osteomalacia
Mondo ID	MONDO:0018124
MeSH	C537751
Orphanet	352540
NCIT	C67235
SNOMED CT	392559009
UMLS	C1274103
MedGen	226893
GARD	0009652
Is cancer (heuristic)	no

Also known as: Oncogenic hypophosphatemic osteomalacia · OO · OOM · TIO · tumor-induced osteomalacia

Disease family

This is a subtype of osteomalacia. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › skeletal system disorder › bone disorder › bone remodeling disease › osteomalacia › Oncogenic osteomalacia

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 9.

Phase distribution (across all retrieved trials)

Phase	Trials
PHASE2	3
Not specified	3
PHASE4	1
EARLY_PHASE1	1
PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05357573	PHASE4	COMPLETED	Study to Assess the Safety, Pharmacokinetics and Efficacy of KRN23 in Adult Chinese Patients With TIO
NCT02304367	PHASE2	COMPLETED	Study of Burosumab (KRN23) in Adults With Tumor-Induced Osteomalacia (TIO) or Epidermal Nevus Syndrome (ENS)
NCT02722798	PHASE2	COMPLETED	A Study of KRN23 in Subjects With Tumor-Induced Osteomalacia or Epidermal Nevus Syndrome
NCT03510455	PHASE2	TERMINATED	BGJ398 for the Treatment of Tumor-Induced Osteomalacia
NCT04689893	PHASE1	UNKNOWN	Application of 68Ga-DOTA-TATE and 68Ga-DOTA-JR11 PET/CT in the Diagnosis and Evaluation of TIO
NCT01524016	EARLY_PHASE1	UNKNOWN	68Ga-DOTATATE PET/CT in Oncogenic Osteomalacia
NCT03775187	Not specified	AVAILABLE	Expanded Access to Burosumab
NCT04783428	Not specified	ACTIVE_NOT_RECRUITING	Tumor-induced Osteomalacia Disease Monitoring Program
NCT07366099	Not specified	RECRUITING	Al18F-NOTA-LM3 PET/CT in Patients With TIO

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
BUROSUMAB	4	4
EDOTREOTIDE GALLIUM GA-68	4	2
INFIGRATINIB	4	1

Drugs: Burosumab, EDOTREOTIDE GALLIUM GA-68, Infigratinib