MCID: OST011
MIFTS: 52

Osteomalacia

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Osteomalacia

MalaCards integrated aliases for Osteomalacia:

Name: Osteomalacia 12 77 54 56 45 15 17 74
Adult Rickets 74

Classifications:



External Ids:

Disease Ontology 12 DOID:10573
ICD9CM 36 268.2
MeSH 45 D010018
NCIt 51 C26838
SNOMED-CT 69 4598005

Summaries for Osteomalacia

NIH Rare Diseases : 54 Osteomalacia is a disease that is characterized by a weakening of the bone, often due to a deficiency of vitamin D. This vitamin supports the development of the bones of the body, so when there are low levels of vitamin D, the bones are not strong enough. Symptoms of osteomalacia can include muscle weakness, bone pain, and walking with a waddling gait. Pain is especially likely to occur in the lower back, hips, and legs. The weakening of the bones may also cause them to easily fracture.  Osetomalacia can be caused by having a low level of vitamin D in the diet or lack of sun exposure. The condition may also be the result of an underlying disease such as celiac disease, or kidney or liver disorders.  Diagnosis of osteomalacia is possible through blood or urine tests to check for vitamin D levels or a bone biopsy. Treatment options include supplementing the diet with more vitamin D or calcium. Any underlying condition will also need to be treated.  

MalaCards based summary : Osteomalacia, also known as adult rickets, is related to oncogenic osteomalacia and hypophosphatasia. An important gene associated with Osteomalacia is DMP1 (Dentin Matrix Acidic Phosphoprotein 1), and among its related pathways/superpathways are FGF signaling pathway and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. The drugs Parathyroid hormone and Calcium have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and testes, and related phenotypes are growth/size/body region and homeostasis/metabolism

Disease Ontology : 12 A bone remodeling disease that has material basis in a vitamin D deficiency which results in softening located in bone.

Wikipedia : 77 Osteomalacia is the softening of the bones caused by impaired bone metabolism primarily due to... more...

Related Diseases for Osteomalacia

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

(show top 50) (show all 216)
# Related Disease Score Top Affiliating Genes
1 oncogenic osteomalacia 34.1 DMP1 FGF23 PHEX SFRP4
2 hypophosphatasia 32.2 ALPL ALPP PHEX
3 autosomal recessive hypophosphatemic rickets 31.7 DMP1 FGF23 PHEX
4 rickets 31.6 ALPL BGLAP DMP1 FGF23 PHEX VDR
5 hypophosphatemic rickets, x-linked recessive 31.6 CYP24A1 DMP1 FGF23 PHEX SFRP4 VDR
6 hypophosphatemia 31.5 BGLAP DMP1 FGF23 PHEX SFRP4
7 hypophosphatasia, adult 30.9 ALPL BGLAP CALCA
8 raine syndrome 30.4 DMP1 FGF23
9 hypophosphatemic rickets, x-linked dominant 30.3 DMP1 FGF23 PHEX
10 enthesopathy 29.8 DMP1 FGF23 PHEX
11 hypophosphatemic rickets, autosomal dominant 29.8 FGF23 PHEX SFRP4
12 hypophosphatemic rickets with hypercalciuria, hereditary 29.6 DMP1 FGF23 PHEX SFRP4
13 osteitis fibrosa 29.5 BGLAP CALCA CASR
14 hyperparathyroidism 29.4 BGLAP CALCA CASR FGF23 PHEX VDR
15 nephrocalcinosis 29.4 CASR CYP24A1 PHEX
16 hypoparathyroidism 29.4 ALPP BGLAP CASR FGF23
17 fibrous dysplasia 29.4 BGLAP CALCA FGF23
18 nephrolithiasis 29.4 CASR CYP24A1 FGF23 VDR
19 bone resorption disease 29.0 BGLAP CALCA VDR
20 renal osteodystrophy 29.0 BGLAP CALCA CASR FGF23 VDR
21 osteoporosis 28.9 ALPL ALPP BGLAP CALCA CASR FGF23
22 primary hyperparathyroidism 28.8 ALPP BGLAP CALCA CASR FGF23 VDR
23 parathyroid adenoma 28.6 BGLAP CALCA CASR VDR
24 bone disease 28.4 ALPL ALPP BGLAP CALCA CASR FGF23
25 axial osteomalacia 12.7
26 osteomalacia, sclerosing, with cerebral calcification 12.1
27 renal tubular acidosis, distal 11.3
28 dent disease 1 11.3
29 osteopetrosis 11.3
30 fanconi renotubular syndrome 1 11.0
31 renal tubular acidosis, distal, autosomal dominant 11.0
32 hypophosphatemic rickets, autosomal recessive, 1 11.0
33 vitamin d hydroxylation-deficient rickets, type 1a 11.0
34 nephrolithiasis, x-linked recessive, with renal failure 11.0
35 hypophosphatemic rickets, autosomal recessive, 2 11.0
36 fanconi renotubular syndrome 2 11.0
37 fanconi renotubular syndrome 3 11.0
38 kienbock's disease 11.0
39 slc4a1-associated distal renal tubular acidosis 11.0
40 fanconi syndrome 10.5
41 renal tubular acidosis 10.4
42 adult syndrome 10.3
43 opsismodysplasia 10.3 FGF23 PHEX
44 familial tumoral calcinosis 10.3 FGF23 PHEX
45 hepatitis 10.3
46 arterial calcification of infancy 10.3 FGF23 PHEX
47 hypervitaminosis d 10.3 FGF23 VDR
48 vitamin d-dependent rickets, type 2a 10.3 PHEX VDR
49 hepatitis b 10.3
50 secondary hyperparathyroidism 10.3

Comorbidity relations with Osteomalacia via Phenotypic Disease Network (PDN):


Acute Cystitis Deficiency Anemia
Osteoporosis

Graphical network of the top 20 diseases related to Osteomalacia:



Diseases related to Osteomalacia

Symptoms & Phenotypes for Osteomalacia

MGI Mouse Phenotypes related to Osteomalacia:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.92 ALPL CASR CYP24A1 DMP1 FGF23 PHEX
2 homeostasis/metabolism MP:0005376 9.91 ALPL CASR CYP24A1 DMP1 FGF23 NR1I2
3 digestive/alimentary MP:0005381 9.85 ALPL CASR FGF23 PHEX SFRP4 VDR
4 limbs/digits/tail MP:0005371 9.63 ALPL DMP1 FGF23 PHEX SFRP4 VDR
5 renal/urinary system MP:0005367 9.5 CASR CYP24A1 DMP1 FGF23 PHEX SFRP4
6 skeleton MP:0005390 9.23 ALPL CASR CYP24A1 DMP1 FGF23 PHEX

Drugs & Therapeutics for Osteomalacia

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

(show top 50) (show all 56)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
2
Calcium Approved, Nutraceutical Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable 7440-70-2 271
3
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 1,Phase 2,Not Applicable 50-14-6 5280793
4
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 1,Phase 2,Not Applicable 1406-16-2
5
Vitamin D3 Approved, Nutraceutical Phase 4,Phase 1,Phase 2,Not Applicable 67-97-0 5280795 6221
6
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 68-26-8, 11103-57-4 9904001 445354
7 Bone Density Conservation Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
8 Hormones Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
9 Calcium, Dietary Phase 4,Phase 3,Phase 1,Phase 2,Not Applicable
10 Antibodies Phase 4,Phase 2,Phase 3,Phase 1
11 Immunologic Factors Phase 4,Phase 2,Phase 3,Phase 1
12 Immunoglobulin G Phase 4,Phase 2,Phase 3,Phase 1
13 Immunoglobulins Phase 4,Phase 2,Phase 3,Phase 1
14 Calciferol Phase 4,Phase 1,Phase 2,Not Applicable
15 Ergocalciferols Phase 4,Phase 1,Phase 2,Not Applicable
16 Vitamin D2 Phase 4,Phase 1,Phase 2,Not Applicable
17 Nutrients Phase 4,Phase 1,Phase 2,Not Applicable
18 Trace Elements Phase 4,Phase 1,Phase 2,Not Applicable
19 Vitamins Phase 4,Phase 1,Phase 2,Not Applicable
20 Micronutrients Phase 4,Phase 1,Phase 2,Not Applicable
21 Retinol palmitate Phase 4
22 retinol Phase 4
23
Teriparatide Approved, Investigational Phase 3 52232-67-4 16133850
24
Bazedoxifene Approved, Investigational Phase 3 198481-32-2
25
Denosumab Approved Phase 3,Phase 2 615258-40-7
26 Pharmaceutical Solutions Phase 3,Phase 2,Early Phase 1
27 Mitogens Phase 3,Phase 2,Phase 1
28 Selective Estrogen Receptor Modulators Phase 3
29 Hormone Antagonists Phase 3,Phase 1
30 Estrogens Phase 3
31 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 1
32 Estrogen Receptor Modulators Phase 3
33
Somatostatin Approved, Investigational Phase 2,Early Phase 1 38916-34-6, 51110-01-1 53481605
34
Tetracycline Approved, Vet_approved Phase 2 60-54-8 5353990
35
Calcifediol Approved, Nutraceutical Phase 1, Phase 2 19356-17-3 5283731 6433735
36 Cariostatic Agents Phase 2
37 Fluorides Phase 2
38 Protective Agents Phase 2
39 Anti-Infective Agents Phase 2
40 Anti-Bacterial Agents Phase 2
41
Cinacalcet Approved Phase 1 226256-56-0 156419
42 Calcimimetic Agents Phase 1
43
Nitroprusside Approved, Investigational Not Applicable 15078-28-1 11963622
44
Acetylcholine Approved, Investigational Not Applicable 51-84-3 187
45
Iron Approved, Experimental 7439-89-6, 15438-31-0 23925 27284
46
Lithium carbonate Approved 554-13-2
47
Cimetidine Approved, Investigational 51481-61-9 2756
48
Calcitriol Approved, Nutraceutical 32222-06-3 134070 5280453
49
Alfacalcidol Approved, Nutraceutical 41294-56-8 5282181
50 phenylalanine Early Phase 1

Interventional clinical trials:

(show top 50) (show all 60)
# Name Status NCT ID Phase Drugs
1 Vitamin D Status in Males in Jerusalem Area and Its Correlation to Parathyroid Hormone (PTH) Level and Bone Mineral Density Completed NCT01025128 Phase 4 25 OH vitamin D
2 A Single Wintertime Dose of Vitamin D3 to Prevent Winter Decline in Vitamin D Status in Healthy Adults Completed NCT01924910 Phase 4
3 Efficacy of Usual Vitamin D Supplementation and Its Impact on Children and Adolescents Calciuria. Completed NCT02238418 Phase 4 Cholecalciferol vial (100 000 UI)
4 Post-approval Clinical Study of Asfotase Alfa Treatment for Patients With Hypophosphatasia (HPP) in Japan Completed NCT02531867 Phase 4
5 A Pilot Study to Evaluate the Effect of Forsteo (Teriparatide, 1-34-rh-PTH) in Anorexia Nervosa Patients With Low Bone Mineral Density and Increased Bone Fagility (FAN-Trial) Unknown status NCT01801397 Phase 3 osteoanabolic therapy
6 Open Label Study of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH) Completed NCT02537431 Phase 3
7 Open-Label Study of Asfotase Alfa in Infants and Children ≤ 5 Years of Age With Hypophosphatasia (HPP) Completed NCT01176266 Phase 2, Phase 3 asfotase alfa
8 Study Evaluating Bazedoxifene Acetate In Osteoporosis In Postmenopausal Women Completed NCT00205777 Phase 3 Bazedoxifene Acetate
9 Extension Study to Evaluate the Long Term Safety and Efficacy of Denosumab in the Treatment of Osteoporosis Completed NCT00523341 Phase 3
10 A Study of KRN23 in Pediatric Patients With X-linked Hypophosphatemic Rickets/Osteomalacia Active, not recruiting NCT03233126 Phase 3 KRN23
11 Combination Osteogenic Therapy in Established Osteoporosis Completed NCT00018447 Phase 2 PTH 1-34;MFPSR-fluoride
12 Safety and Efficacy Study of Asfotase Alfa in Adolescents and Adults With Hypophosphatasia (HPP) Completed NCT01163149 Phase 2 asfotase alfa;asfotase alfa
13 A Transiliac Crest Bone Histology and Histomorphometry Study in Postmenopausal Women With Low Bone Mass or Osteoporosis Previously Treated With Denosumab Completed NCT00887965 Phase 2 Previous denosumab
14 Safety and Efficacy of Asfotase Alfa in Juvenile Patients With Hypophosphatasia (HPP) Completed NCT00952484 Phase 2
15 Nursing-Home Residents Given Bread Fortified With Vitamin D3 Completed NCT00789503 Phase 1, Phase 2
16 Extension Study of Protocol ENB-002-08 - Study of Asfotase Alfa in Infants and Young Children With Hypophosphatasia (HPP) Completed NCT01205152 Phase 2
17 Extension Study of Protocol ENB-006-09 - Study of Asfotase Alfa in Children With Hypophosphatasia (HPP) Completed NCT01203826 Phase 2
18 Safety and Efficacy Study of Asfotase Alfa in Severely Affected Infants With Hypophosphatasia (HPP) Completed NCT00744042 Phase 1, Phase 2
19 BGJ398 for the Treatment of Tumor-Induced Osteomalacia Recruiting NCT03510455 Phase 2 BGJ398
20 Ga-DOTATATE PET for Phosphaturic Mesenchymal Tumors in Patients With Tumor Induced Osteomalacia Recruiting NCT03736564 Phase 1, Phase 2
21 A Study of KRN23 in Subjects With Tumor-Induced Osteomalacia or Epidermal Nevus Syndrome Active, not recruiting NCT02722798 Phase 2 KRN23
22 Study of KRN23 in Adult Subjects With Tumor-Induced Osteomalacia (TIO) or Epidermal Nevus Syndrome (ENS) Active, not recruiting NCT02304367 Phase 2
23 Evaluation of 68Gallium-DOTATATE PET/CT for Detecting Neuroendocrine Tumors Active, not recruiting NCT01967537 Phase 2 68Gallium DOTATATE
24 Safety and Efficacy Study of ENB-0040 in Juvenile Patients With Hypophosphatasia (HPP) Withdrawn NCT00894075 Phase 2
25 A Study of KRN23 in Subjects With X-linked Hypophosphatemic Rickets/Osteomalacia Completed NCT02181764 Phase 1 KRN23
26 Safety Study of Human Recombinant Tissue Non-Specific Alkaline Phosphatase Fusion Protein Asfotase Alfa in Adults With Hypophosphatasia (HPP) Completed NCT00739505 Phase 1
27 Cinacalcet for Fibroblast Growth Factor 23 (FGF23)-Mediated Hypophosphatemia (Hypophosphatemic Rickets) Terminated NCT01748812 Phase 1 Osteomalacia
28 68Ga-DOTATATE PET/CT in Oncogenic Osteomalacia Unknown status NCT01524016 Early Phase 1 68Ga-DOTATATE
29 Molecular Pathways Involved in the Pathogenesis and Behavior of Mesenchymal Phosphaturic Tumors Causing Oncogenic Osteomalacia Unknown status NCT02331966
30 Observing the Changes of Fibroblast Growth Factor 23 in Patients of Tumor Induced Osteomalacia Unknown status NCT01660308
31 Development of a Non-invasive Assessment of Human Bone Quality Using Spatially Offset Raman Spectroscopy Unknown status NCT02814591
32 Expanded Access Program for Asfotase Alfa Treatment for Patients With Infantile- or Juvenile-onset Hypophosphatasia (HPP) Approved for marketing NCT02496689
33 Catheterization to Locate Mesenchymal Tumors in Patients With Tumor-Induced Osteomalacia or Oncogenic Osteomalacia Completed NCT00099762
34 Serum FGF-23 and Vitamin D Deficiency Completed NCT01102751
35 Maternal and Infant Vitamin Status During the First Nine Months of Infant Life Completed NCT02548520
36 Serum Sclerostin Level & Treatment of Vitamin D Deficiency Completed NCT01553344
37 Vitamin D, Bones, Nutritional and Cardiovascular Status Completed NCT01832623 Not Applicable
38 Association Between Lifestyle, Bone Mineral Density and Non-alcoholic Fatty Liver Disease Completed NCT03847116
39 Hypovitaminosis D Prediction Score Completed NCT02822651 Not Applicable
40 Does Intravenous Iron Therapy Decrease Serum Phosphorous Levels? Completed NCT02420119
41 Vitamin D Supplementation and Sunlight Exposure in Brazilian Women Living in Opposite Latitudes (The D-SOL Study) Completed NCT03318029 Not Applicable
42 APOSTrophe Study (Parenteral Nutrition and Bone Trophicity) Impact of a Long-term Parenteral Nutrition on Bone Metabolism Measured by High Resolution Peripheral Quantitative Computer Tomography (HR-pQCT) in Children and Young Adults Completed NCT02368496 Not Applicable
43 Pilot Pharmacokinetic Study of Daily Versus Monthly High-Dose Cholecalciferol Supplementation Completed NCT01079923 Not Applicable
44 The Effect of Vitamin D Repletion on Small Low Density Lipoprotein (LDL) Particle Number in Subjects at Elevated Cardiovascular Risk Completed NCT01008384 Not Applicable
45 Replacement of Vitamin D in Patients With Active Tuberculosis Completed NCT01130311 Not Applicable Cholecalciferol;Saline injection
46 Serum Calcium to Phosphorous Ratio (Ca/P) as a Simple, Inexpensive Screening Tool in the Diagnosis of Primary Hyperparathyroidism Completed NCT03027349
47 Reliability of Serum Calcium to Phosphorus (Ca/P) Ratio as an Accurate and Inexpensive Tool to Define Disorders of Ca-P Metabolism Completed NCT03603444
48 Non-interventional Substudy of ALX-HPP-502 to Assess Natural History of Patients With Juvenile-onset HPP Who Served as Historical Controls in ENB-006-09 Completed NCT02235493
49 Retrospective, Non-interventional Natural History of Patients With Juvenile-onset Hypophosphatasia (HPP) Completed NCT02104219
50 A Retrospective Study of the Natural History of Patients With Severe Perinatal and Infantile Hypophosphatasia (HPP) Completed NCT01419028

Search NIH Clinical Center for Osteomalacia

Cochrane evidence based reviews: osteomalacia

Genetic Tests for Osteomalacia

Anatomical Context for Osteomalacia

MalaCards organs/tissues related to Osteomalacia:

42
Bone, Liver, Testes, Kidney, Prostate, Thyroid, Breast

The Foundational Model of Anatomy Ontology organs/tissues related to Osteomalacia:

20
Bone

Publications for Osteomalacia

Articles related to Osteomalacia:

(show top 50) (show all 1678)
# Title Authors Year
1
Osteomalacia and Fanconi Syndrome Induced by Adefovir. ( 30713327 )
2019
2
Correction to: Bone Scintigraphy and Tenofovir-Induced Osteomalacia in Chronic Hepatitis B. ( 30828404 )
2019
3
Tumor-Induced Osteomalacia with IgG4 related lymph node disease in a 60-year-old man. ( 30882464 )
2019
4
Comparison of surgical treatments of tumor-induced osteomalacia in different locations in the lower limbs: A retrospective study. ( 30882679 )
2019
5
Tumor-induced osteomalacia with the culprit lesion located in the palm: a case report. ( 30859855 )
2019
6
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. ( 30859653 )
2019
7
Infiltrative nature of tumor-induced osteomalacia lesions in bone: Correlation between radiological and histopathological features. ( 30797665 )
2019
8
Tumor-induced osteomalacia: experience from three tertiary care centres In India. ( 30726771 )
2019
9
99mTc-HYNIC-TOC in the Evaluation of Recurrent Tumor-Induced Osteomalacia. ( 30672760 )
2019
10
Spot the silent sufferers: A call for clinical diagnostic criteria for solar and nutritional osteomalacia. ( 30654108 )
2019
11
Ectopic expression of Klotho in fibroblast growth factor 23 (FGF23)-producing tumors that cause tumor-induced rickets/osteomalacia (TIO). ( 30627598 )
2019
12
Clinical features of hypophosphatemic osteomalacia induced by long-term low-dose adefovir dipivoxil. ( 29343941 )
2018
13
Hypophosphatemic Osteomalacia with Multiple Bone Fractures: ADV-Induced Fanconi's Syndrome. ( 29399572 )
2018
14
Tumora89induced hypophosphatemic osteomalacia as a rare cause of bone pain. ( 29600968 )
2018
15
Severe FGF23-based hypophosphataemic osteomalacia due to ferric carboxymaltose administration. ( 29298794 )
2018
16
Osteomalacia, renal Fanconi syndrome, and bone tumor. ( 29614898 )
2018
17
Phosphaturic Mesenchymal Tumor Without Osteomalacia: Additional Confirmation of the "Non-Phosphaturic" Variant, with Emphasis on the Roles of FGF23 Chromogenic in situ Hybridization and FN1-FGFR1 Fluorescence in situ Hybridization. ( 29514106 )
2018
18
A Challenging Case of Tumor-Induced Osteomalacia: Pathophysiological and Clinical Implications. ( 29736882 )
2018
19
Clinical and laboratory features of patients with osteomalacia initially presenting with neurological manifestations. ( 29623355 )
2018
20
Correction to: Tubulointerstitial nephritis-induced hypophosphatemic osteomalacia in SjAPgren's syndrome: a case report and review of the literature. ( 29380163 )
2018
21
Maxillary tumour-induced osteomalacia. ( 29571670 )
2018
22
Occult phosphaturic mesenchymal tumor of femur cortex causing oncogenic osteomalacia: Diagnostic challenges and clinical outcomes. ( 29442350 )
2018
23
Oncogenic Osteomalacia. ( 29319792 )
2018
24
An Uncommon Case of Bilateral Pathologic Hip Fractures: Antiviral Drug-induced Osteomalacia in a Patient with Hepatitis B. ( 29896460 )
2018
25
Tumor-Induced Osteomalacia Caused by a Parotid Basal Cell Adenoma Detected by 68Ga-DOTANOC PET/CT. ( 29659384 )
2018
26
Adefovir dipivoxil induced hypophosphatemic osteomalacia in chronic hepatitis B: a comparative study of Chinese and foreign case series. ( 29769119 )
2018
27
Tumor-induced hypophosphatemic osteomalacia: description of 2 cases. ( 29776656 )
2018
28
SjAPgren's Syndrome Associated with Fanconi's Syndrome and Osteomalacia. ( 29610453 )
2018
29
Diagnostic performance and impact on patient management of <sup>68</sup>Ga-DOTA-TOC PET/CT for detecting osteomalacia-associated tumours. ( 29532101 )
2018
30
Acquired hypophosphatemic osteomalacia is easily misdiagnosed or neglected by rheumatologists: A report of 9 cases. ( 29904418 )
2018
31
Identification of a novel loss-of-function PHEX mutation, Ala720Ser, in a sporadic case of adult-onset hypophosphatemic osteomalacia. ( 28982589 )
2018
32
Targeted resequencing of phosphorus metabolisma89related genes in 86 patients with hypophosphatemic rickets/osteomalacia. ( 29901142 )
2018
33
The Findings on Bone Scintigraphy in Patients With Suspected Tumor-Induced Osteomalacia Should Not Be Overlooked. ( 29504962 )
2018
34
Osteomalacia Due to Drug-Induced Fanconi Syndrome. ( 29575761 )
2018
35
Four possible cases of osteomalacia: The value of a multidisciplinary diagnostic approach. ( 29655998 )
2018
36
Tumor-induced osteomalacia in association with PTEN-negative Cowden syndrome. ( 29380000 )
2018
37
Bone histomorphometry in the evaluation of osteomalacia. ( 29955631 )
2018
38
Prevention of rickets and osteomalacia in the UK: political action overdue. ( 29661756 )
2018
39
Severe hypophosphatemia induced by denosumab in a patient with osteomalacia and tenofovir disoproxil fumarate-related acquired Fanconi syndrome. ( 30171299 )
2018
40
A Case of Hypophosphatemic Osteomalacia Associated with Adefovir-induced Fanconi Syndrome Initially Diagnosed as Diabetic Kidney Disease and Vitamin D Deficiency. ( 30333420 )
2018
41
Successful Localization Using 68Ga-DOTATOC PET/CT of a Phosphaturic Mesenchymal Tumor Causing Osteomalacia in a Patient with Concurrent Follicular Lymphoma. ( 30538778 )
2018
42
Ethmoid tumor and oncogenic osteomalacia: Case report and review of the literature. ( 30026073 )
2018
43
Oncogenic osteomalacia: diagnosis, localisation, and cure. ( 30084384 )
2018
44
Tumor-induced osteomalacia. ( 30775554 )
2018
45
Osteomalacia in a Case of Adult-Onset Bartter Syndrome. ( 30756015 )
2018
46
Sinonasal hemangiopericytoma caused hypophosphatemic osteomalacia: A case report. ( 30593185 )
2018
47
Osteomalacia & Looser Zones. ( 30590855 )
2018
48
A Patient of Tumour Induced Osteomalacia Undiagnosed for 11 years. ( 30347965 )
2018
49
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. ( 30273206 )
2018
50
A novel FAM20C mutation causing hypophosphatemic osteomalacia with osteosclerosis (mild Raine syndrome) in an elderly man with spontaneous osteonecrosis of the knee. ( 30151622 )
2018

Variations for Osteomalacia

Expression for Osteomalacia

Search GEO for disease gene expression data for Osteomalacia.

Pathways for Osteomalacia

GO Terms for Osteomalacia

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.85 CASR NR1I2 SFRP4 VDR
2 cellular protein metabolic process GO:0044267 9.75 CALCA DMP1 FGF23
3 osteoblast differentiation GO:0001649 9.71 ALPL BGLAP CYP24A1
4 cellular calcium ion homeostasis GO:0006874 9.7 CALCA CASR VDR
5 ossification GO:0001503 9.69 BGLAP CASR DMP1
6 skeletal system development GO:0001501 9.62 ALPL BGLAP PHEX VDR
7 bone mineralization GO:0030282 9.58 BGLAP PHEX
8 regulation of bone mineralization GO:0030500 9.57 BGLAP FGF23
9 vasodilation GO:0042311 9.56 CALCA CASR
10 cellular response to parathyroid hormone stimulus GO:0071374 9.49 FGF23 PHEX
11 phosphate ion homeostasis GO:0055062 9.48 FGF23 SFRP4
12 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.46 FGF23 VDR
13 biomineral tissue development GO:0031214 9.46 ALPL BGLAP DMP1 PHEX
14 response to sodium phosphate GO:1904383 9.43 FGF23 PHEX
15 vitamin D metabolic process GO:0042359 9.43 CYP24A1 FGF23 VDR
16 vitamin D catabolic process GO:0042369 9.4 CYP24A1 FGF23
17 vitamin D receptor signaling pathway GO:0070561 9.37 CYP24A1 VDR
18 response to vitamin D GO:0033280 9.26 ALPL BGLAP CYP24A1 PHEX
19 cellular response to vitamin D GO:0071305 8.92 BGLAP CASR FGF23 PHEX

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

# Name GO ID Score Top Affiliating Genes
1 metal ion binding GO:0046872 9.56 ALPL ALPP BGLAP CASR CYP24A1 NR1I2
2 nuclear receptor activity GO:0004879 9.16 NR1I2 VDR
3 alkaline phosphatase activity GO:0004035 8.62 ALPL ALPP

Sources for Osteomalacia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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