MCID: OST011
MIFTS: 52

Osteomalacia

Categories: Bone diseases, Rare diseases

Aliases & Classifications for Osteomalacia

MalaCards integrated aliases for Osteomalacia:

Name: Osteomalacia 12 76 53 55 44 15 73
Adult Rickets 73

Classifications:



External Ids:

Disease Ontology 12 DOID:10573
ICD9CM 35 268.2
MeSH 44 D010018
NCIt 50 C26838
SNOMED-CT 68 4598005

Summaries for Osteomalacia

NIH Rare Diseases : 53 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 axial osteomalacia and oncogenic osteomalacia. An important gene associated with Osteomalacia is DMP1 (Dentin Matrix Acidic Phosphoprotein 1), and among its related pathways/superpathways are Development_Hedgehog and PTH signaling pathways in bone and cartilage development and Parathyroid hormone synthesis, secretion and action. The drugs Ergocalciferol and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and liver, 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 : 76 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 204)
# Related Disease Score Top Affiliating Genes
1 axial osteomalacia 34.0 PTH BGLAP
2 oncogenic osteomalacia 33.9 SFRP4 PTH PHEX FGF23 DMP1
3 hypophosphatasia 32.5 PHEX ALPL
4 hypophosphatemic rickets, x-linked recessive 31.8 VDR SFRP4 PHEX FGF23 DMP1 CYP24A1
5 autosomal recessive hypophosphatemic rickets 31.6 PHEX FGF23 DMP1
6 rickets 31.5 VDR PTH PHEX FGF23 DMP1 BGLAP
7 hypophosphatemia 31.4 SFRP4 PTH PHEX FGF23 DMP1 BGLAP
8 hypophosphatasia, adult 30.8 ALPL PTH CALCA BGLAP
9 raine syndrome 30.2 FGF23 DMP1
10 hypophosphatemic rickets, x-linked dominant 29.9 DMP1 FGF23 PHEX PTH
11 uremia 29.8 VDR PTH CASR
12 enthesopathy 29.8 PHEX FGF23 DMP1
13 hypophosphatemic rickets, autosomal dominant 29.7 SFRP4 PHEX FGF23
14 fibrogenesis imperfecta ossium 29.7 PTH CALCA
15 hyperparathyroidism 29.5 VDR PTH PHEX FGF23 CASR CALCA
16 hypoparathyroidism 29.5 PTH FGF23 CASR BGLAP
17 fibrous dysplasia 29.5 FGF23 CALCA BGLAP
18 kidney disease 29.5 VDR PTH FGF23 CASR
19 pseudohypoparathyroidism 29.4 PTH BGLAP
20 osteitis fibrosa 29.4 BGLAP CALCA CASR PTH
21 primary hyperparathyroidism 29.3 VDR PTH FGF23 CASR CALCA BGLAP
22 paget's disease of bone 29.3 PTH CALCA BGLAP
23 hypophosphatemic rickets with hypercalciuria, hereditary 29.3 SFRP4 PTH PHEX FGF23 DMP1
24 nephrocalcinosis 29.2 PTH PHEX CYP24A1 CASR
25 renal osteodystrophy 29.1 VDR PTH FGF23 CASR CALCA BGLAP
26 osteoporosis 29.1 VDR PTH FGF23 CYP24A1 CASR CALCA
27 secondary hyperparathyroidism of renal origin 29.1 VDR PTH FGF23 CASR CALCA BGLAP
28 nephrolithiasis 29.0 VDR PTH FGF23 CYP24A1 CASR
29 bone disease 29.0 VDR PTH FGF23 CASR CALCA BGLAP
30 parathyroid adenoma 28.6 BGLAP CALCA CASR PTH VDR
31 osteomalacia, sclerosing, with cerebral calcification 12.0
32 renal tubular acidosis, distal 11.3
33 dent disease 1 11.3
34 osteopetrosis 11.3
35 fanconi renotubular syndrome 1 10.9
36 renal tubular acidosis, distal, autosomal dominant 10.9
37 hypophosphatemic rickets, autosomal recessive, 1 10.9
38 vitamin d hydroxylation-deficient rickets, type 1a 10.9
39 nephrolithiasis, x-linked recessive, with renal failure 10.9
40 hypophosphatemic rickets, autosomal recessive, 2 10.9
41 fanconi renotubular syndrome 2 10.9
42 fanconi renotubular syndrome 3 10.9
43 slc4a1-associated distal renal tubular acidosis 10.9
44 fanconi syndrome 10.5
45 renal tubular acidosis 10.4
46 adult syndrome 10.3
47 hepatitis 10.2
48 hepatitis b 10.2
49 opsismodysplasia 10.2 PHEX FGF23
50 familial tumoral calcinosis 10.2 PHEX FGF23

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:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.09 ALPL CASR CYP24A1 DMP1 FGF23 PHEX
2 homeostasis/metabolism MP:0005376 10.07 ALPL CASR CYP24A1 DMP1 FGF23 NR1I2
3 cardiovascular system MP:0005385 10.04 ALPL DMP1 FGF23 PHEX PTH SFRP4
4 hematopoietic system MP:0005397 10.01 ALPL CASR DMP1 FGF23 PHEX PTH
5 digestive/alimentary MP:0005381 9.93 ALPL CASR FGF23 PHEX SFRP4 VDR
6 immune system MP:0005387 9.92 ALPL CASR DMP1 FGF23 PHEX PTH
7 craniofacial MP:0005382 9.88 ALPL DMP1 PHEX PTH VDR
8 mortality/aging MP:0010768 9.81 ALPL CASR CYP24A1 FGF23 NR1I2 PHEX
9 limbs/digits/tail MP:0005371 9.8 ALPL DMP1 FGF23 PHEX PTH SFRP4
10 renal/urinary system MP:0005367 9.5 CASR CYP24A1 DMP1 FGF23 PHEX SFRP4
11 skeleton MP:0005390 9.28 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 53)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 1,Phase 2,Not Applicable 50-14-6 5280793
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 1,Phase 2,Not Applicable 1406-16-2
3
Vitamin D3 Approved, Nutraceutical Phase 4,Phase 1,Phase 2,Not Applicable 67-97-0 5280795 6221
4
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 11103-57-4, 68-26-8 445354
5 Bone Density Conservation Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
6 Immunologic Factors Phase 4,Phase 2,Phase 3,Phase 1
7 Antibodies Phase 4,Phase 2,Phase 3,Phase 1
8 Immunoglobulin G Phase 4,Phase 2,Phase 3,Phase 1
9 Immunoglobulins Phase 4,Phase 2,Phase 3,Phase 1
10 Trace Elements Phase 4,Phase 1,Phase 2,Not Applicable
11 Ergocalciferols Phase 4,Phase 1,Phase 2,Not Applicable
12 Hormones Phase 4,Phase 3,Phase 1
13 Vitamin D2 Phase 4,Phase 1,Phase 2,Not Applicable
14 Calciferol Phase 4,Phase 1,Phase 2,Not Applicable
15 Micronutrients Phase 4,Phase 1,Phase 2,Not Applicable
16 Vitamins Phase 4,Phase 1,Phase 2,Not Applicable
17 Retinol palmitate Phase 4
18 retinol Phase 4
19
Teriparatide Approved, Investigational Phase 3 52232-67-4 16133850
20
Bazedoxifene Approved, Investigational Phase 3 198481-32-2
21
Denosumab Approved Phase 3,Phase 2 615258-40-7
22 Mitogens Phase 3,Phase 2,Phase 1
23 Pharmaceutical Solutions Phase 3,Phase 2,Early Phase 1
24 Selective Estrogen Receptor Modulators Phase 3
25 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 1
26 Estrogens Phase 3
27 Hormone Antagonists Phase 3,Phase 1
28 Estrogen Receptor Modulators Phase 3
29
Somatostatin Approved, Investigational Phase 2,Early Phase 1 51110-01-1, 38916-34-6 53481605
30
Tetracycline Approved, Vet_approved Phase 2 60-54-8 5353990
31 Calcifediol Phase 1, Phase 2 19356-17-3
32 Cariostatic Agents Phase 2
33 Protective Agents Phase 2
34 Fluorides Phase 2
35 Anti-Bacterial Agents Phase 2
36 Anti-Infective Agents Phase 2
37 Calcium, Dietary Phase 1, Phase 2,Not Applicable
38 Cinacalcet Hydrochloride Phase 1
39 Calcimimetic Agents Phase 1
40
Acetylcholine Approved Not Applicable 51-84-3 187
41
Nitroprusside Approved, Investigational Not Applicable 15078-28-1 11963622
42
Iron Approved 7439-89-6 23925
43
Lithium carbonate Approved 554-13-2
44
Cimetidine Approved, Investigational 51481-61-9 2756
45
Calcitriol Approved, Nutraceutical 32222-06-3 5280453 134070
46
Alfacalcidol Approved, Nutraceutical 41294-56-8 5282181
47 phenylalanine Early Phase 1
48 Anabolic Agents
49 Diphosphonates
50 Hydroxycholecalciferols

Interventional clinical trials:

(show top 50) (show all 58)
# 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 Hypovitaminosis D Prediction Score Completed NCT02822651 Not Applicable
39 Does Intravenous Iron Therapy Decrease Serum Phosphorous Levels? Completed NCT02420119
40 Vitamin D Supplementation and Sunlight Exposure in Brazilian Women Living in Opposite Latitudes (The D-SOL Study) Completed NCT03318029 Not Applicable
41 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
42 Pilot Pharmacokinetic Study of Daily Versus Monthly High-Dose Cholecalciferol Supplementation Completed NCT01079923 Not Applicable
43 The Effect of Vitamin D Repletion on Small Low Density Lipoprotein (LDL) Particle Number in Subjects at Elevated Cardiovascular Risk Completed NCT01008384 Not Applicable
44 Replacement of Vitamin D in Patients With Active Tuberculosis Completed NCT01130311 Not Applicable Cholecalciferol;Saline injection
45 Serum Calcium to Phosphorous Ratio (Ca/P) as a Simple, Inexpensive Screening Tool in the Diagnosis of Primary Hyperparathyroidism Completed NCT03027349
46 Reliability of Serum Calcium to Phosphorus (Ca/P) Ratio as an Accurate and Inexpensive Tool to Define Disorders of Ca-P Metabolism Completed NCT03603444
47 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
48 Retrospective, Non-interventional Natural History of Patients With Juvenile-onset Hypophosphatasia (HPP) Completed NCT02104219
49 A Retrospective Study of the Natural History of Patients With Severe Perinatal and Infantile Hypophosphatasia (HPP) Completed NCT01419028
50 Study of Longitudinal Observation for Patient With X-linked Hypophosphatemic Rickets/Osteomalacia in Collaboration With Asian Partners Recruiting NCT03745521

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:

41
Bone, Kidney, Liver, Testes, Prostate, Thyroid, Colon

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

19
Bone

Publications for Osteomalacia

Articles related to Osteomalacia:

(show top 50) (show all 1083)
# Title Authors Year
1
Clinical features of hypophosphatemic osteomalacia induced by long-term low-dose adefovir dipivoxil. ( 29343941 )
2018
2
Hypophosphatemic Osteomalacia with Multiple Bone Fractures: ADV-Induced Fanconi's Syndrome. ( 29399572 )
2018
3
Tumora89induced hypophosphatemic osteomalacia as a rare cause of bone pain. ( 29600968 )
2018
4
Severe FGF23-based hypophosphataemic osteomalacia due to ferric carboxymaltose administration. ( 29298794 )
2018
5
Osteomalacia, renal Fanconi syndrome, and bone tumor. ( 29614898 )
2018
6
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
7
A Challenging Case of Tumor-Induced Osteomalacia: Pathophysiological and Clinical Implications. ( 29736882 )
2018
8
Clinical and laboratory features of patients with osteomalacia initially presenting with neurological manifestations. ( 29623355 )
2018
9
Correction to: Tubulointerstitial nephritis-induced hypophosphatemic osteomalacia in SjAPgren's syndrome: a case report and review of the literature. ( 29380163 )
2018
10
Maxillary tumour-induced osteomalacia. ( 29571670 )
2018
11
Occult phosphaturic mesenchymal tumor of femur cortex causing oncogenic osteomalacia: Diagnostic challenges and clinical outcomes. ( 29442350 )
2018
12
Oncogenic Osteomalacia. ( 29319792 )
2018
13
An Uncommon Case of Bilateral Pathologic Hip Fractures: Antiviral Drug-induced Osteomalacia in a Patient with Hepatitis B. ( 29896460 )
2018
14
Tumor-Induced Osteomalacia Caused by a Parotid Basal Cell Adenoma Detected by 68Ga-DOTANOC PET/CT. ( 29659384 )
2018
15
Adefovir dipivoxil induced hypophosphatemic osteomalacia in chronic hepatitis B: a comparative study of Chinese and foreign case series. ( 29769119 )
2018
16
Tumor-induced hypophosphatemic osteomalacia: description of 2 cases. ( 29776656 )
2018
17
SjAPgren's Syndrome Associated with Fanconi's Syndrome and Osteomalacia. ( 29610453 )
2018
18
Diagnostic performance and impact on patient management of <sup>68</sup>Ga-DOTA-TOC PET/CT for detecting osteomalacia-associated tumours. ( 29532101 )
2018
19
Acquired hypophosphatemic osteomalacia is easily misdiagnosed or neglected by rheumatologists: A report of 9 cases. ( 29904418 )
2018
20
Identification of a novel loss-of-function PHEX mutation, Ala720Ser, in a sporadic case of adult-onset hypophosphatemic osteomalacia. ( 28982589 )
2018
21
Targeted resequencing of phosphorus metabolisma89related genes in 86 patients with hypophosphatemic rickets/osteomalacia. ( 29901142 )
2018
22
The Findings on Bone Scintigraphy in Patients With Suspected Tumor-Induced Osteomalacia Should Not Be Overlooked. ( 29504962 )
2018
23
Osteomalacia Due to Drug-Induced Fanconi Syndrome. ( 29575761 )
2018
24
Four possible cases of osteomalacia: The value of a multidisciplinary diagnostic approach. ( 29655998 )
2018
25
Tumor-induced osteomalacia in association with PTEN-negative Cowden syndrome. ( 29380000 )
2018
26
Severe hypophosphatemia induced by denosumab in a patient with osteomalacia and tenofovir disoproxil fumarate-related acquired Fanconi syndrome. ( 30171299 )
2018
27
A Case of Hypophosphatemic Osteomalacia Associated with Adefovir-induced Fanconi Syndrome Initially Diagnosed as Diabetic Kidney Disease and Vitamin D Deficiency. ( 30333420 )
2018
28
Successful Localization Using 68Ga-DOTATOC PET/CT of a Phosphaturic Mesenchymal Tumor Causing Osteomalacia in a Patient with Concurrent Follicular Lymphoma. ( 30538778 )
2018
29
Ethmoid tumor and oncogenic osteomalacia: Case report and review of the literature. ( 30026073 )
2018
30
Oncogenic osteomalacia: diagnosis, localisation, and cure. ( 30084384 )
2018
31
Molecular Imaging in Diagnosis of Tumor-induced Osteomalacia. ( 30078476 )
2018
32
A Case of Severe Osteomalacia with Dent Disease Caused by a Novel Intronic Mutation of the CLCN5 gene. ( 30101934 )
2018
33
A case with tumour-induced osteomalacia misdiagnosed as axial spondyloarthritis. ( 30107442 )
2018
34
Sjögren's, Renal Tubular Acidosis and Osteomalacia - An Asian Indian Series. ( 30123372 )
2018
35
Positive somatostatin receptor imaging does not predict somatostatin analogue efficacy in tumor-induced osteomalacia. ( 30141426 )
2018
36
A novel FAM20C mutation causing hypophosphatemic osteomalacia with osteosclerosis (mild Raine syndrome) in an elderly man with spontaneous osteonecrosis of the knee. ( 30151622 )
2018
37
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
38
A Patient of Tumour Induced Osteomalacia Undiagnosed for 11 years. ( 30347965 )
2018
39
A case report of phosphaturic mesenchymal tumor-induced osteomalacia: Erratum. ( 29480869 )
2018
40
Prevention of rickets and osteomalacia in the UK: political action overdue. ( 29661756 )
2018
41
Bone histomorphometry in the evaluation of osteomalacia. ( 29955631 )
2018
42
Vitamin D deficiency in bioarchaeology and beyond: The study of rickets and osteomalacia in the past. ( 30061000 )
2018
43
Laxatives Soften More Than Just Stools: Osteomalacia Caused by Laxative Abuse in a Young Woman. ( 30074912 )
2018
44
Hypocalcemia and osteomalacia after bariatric surgery. ( 29263738 )
2017
45
Is there any link between tumor-induced osteomalacia and psoriasis? A case report. ( 28852641 )
2017
46
Definitive surgical treatment of osteomalacia induced by skull base tumor and determination of the half-life of serum fibroblast growth factor 23. ( 28768937 )
2017
47
Selective blood sampling for FGF-23 in tumor-induced osteomalacia. ( 29026610 )
2017
48
Correction to Oncogenic osteomalacia: role of Ga-68 DOTANOC PET/CT scan in identifying the culprit lesion and its management. ( 29034744 )
2017
49
Tubulointerstitial nephritis-induced hypophosphatemic osteomalacia in SjAPgren's syndrome: a case report and review of the literature. ( 28725949 )
2017
50
Oncogenic Osteomalacia: An Approach to Diagnosis with a Case Report. ( 28571152 )
2017

Variations for Osteomalacia

Expression for Osteomalacia

Search GEO for disease gene expression data for Osteomalacia.

Pathways for Osteomalacia

GO Terms for Osteomalacia

Cellular components related to Osteomalacia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.43 ALPL BGLAP CALCA FGF23 PTH SFRP4
2 extracellular region GO:0005576 9.17 ALPL BGLAP CALCA DMP1 FGF23 PTH

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.87 CASR NR1I2 SFRP4 VDR
2 cell-cell signaling GO:0007267 9.77 CALCA PHEX PTH
3 cellular protein metabolic process GO:0044267 9.77 CALCA DMP1 FGF23
4 osteoblast differentiation GO:0001649 9.73 ALPL BGLAP CYP24A1
5 ossification GO:0001503 9.72 BGLAP CASR DMP1
6 skeletal system development GO:0001501 9.72 ALPL BGLAP PHEX PTH VDR
7 cellular calcium ion homeostasis GO:0006874 9.71 CALCA CASR PTH VDR
8 bone mineralization GO:0030282 9.61 BGLAP PHEX PTH
9 regulation of bone mineralization GO:0030500 9.58 BGLAP FGF23
10 vasodilation GO:0042311 9.58 CALCA CASR
11 cellular response to parathyroid hormone stimulus GO:0071374 9.54 FGF23 PHEX
12 vitamin D metabolic process GO:0042359 9.54 CYP24A1 FGF23 VDR
13 response to fibroblast growth factor GO:0071774 9.52 CASR PTH
14 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.51 FGF23 VDR
15 response to sodium phosphate GO:1904383 9.49 FGF23 PHEX
16 vitamin D catabolic process GO:0042369 9.48 CYP24A1 FGF23
17 vitamin D receptor signaling pathway GO:0070561 9.46 CYP24A1 VDR
18 biomineral tissue development GO:0031214 9.46 ALPL BGLAP DMP1 PHEX
19 phosphate ion homeostasis GO:0055062 9.43 FGF23 PTH SFRP4
20 cellular response to vitamin D GO:0071305 9.26 BGLAP CASR FGF23 PHEX
21 response to vitamin D GO:0033280 9.02 ALPL BGLAP CYP24A1 PHEX PTH

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

# Name GO ID Score Top Affiliating Genes
1 nuclear receptor activity GO:0004879 8.62 NR1I2 VDR

Sources for 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
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44 MeSH
45 MESH via Orphanet
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49 NCI
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54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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