MCID: OST004
MIFTS: 41

Osteitis Fibrosa

Categories: Bone diseases, Endocrine diseases

Aliases & Classifications for Osteitis Fibrosa

MalaCards integrated aliases for Osteitis Fibrosa:

Name: Osteitis Fibrosa 12 54 15 17
Osteitis Fibrosa Cystica 43 71
Osteitis Fibrosa Cystica Generalisata 12
Von Recklinghausen's Bone Disease 12
Hyperparathyroid Bone Disease 12
Osteitis Fibrosa Disseminata 71

Classifications:



External Ids:

Disease Ontology 12 DOID:3341
MeSH 43 D010002
NCIt 49 C34875
SNOMED-CT 67 84727000
UMLS 71 C0016063 C0029405

Summaries for Osteitis Fibrosa

Disease Ontology : 12 A bone resorption disease that has material basis in hyperparathyroidism which results in hyperactivity in osteoclasts, deformity, and loss of mass located in bone.

MalaCards based summary : Osteitis Fibrosa, also known as osteitis fibrosa cystica, is related to pseudohypoparathyroidism, type ib and mccune-albright syndrome. An important gene associated with Osteitis Fibrosa is BGLAP (Bone Gamma-Carboxyglutamate Protein), and among its related pathways/superpathways are Signaling by GPCR and G alpha (s) signalling events. The drugs Parathyroid hormone and Calcium, Dietary have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and thyroid, and related phenotypes are endocrine/exocrine gland and skeleton

Wikipedia : 74 Osteitis fibrosa cystica (/ˌɒstiˈaɪtɪs faɪˈbroʊsə ˈsɪstɪkə/ OS-tee-AY-tis fy-BROH-sə SIS-tik-ə), is a... more...

Related Diseases for Osteitis Fibrosa

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

(show top 50) (show all 163)
# Related Disease Score Top Affiliating Genes
1 pseudohypoparathyroidism, type ib 33.0 PTH GNAS BGLAP
2 mccune-albright syndrome 32.4 SOST GNAS FGF23 BGLAP
3 pseudohypoparathyroidism 30.7 PTH GNAS CALCA BGLAP
4 giant cell reparative granuloma 30.7 PTH CALCA
5 benign giant cell tumor 30.5 FGF23 CALCA BGLAP
6 mammary paget's disease 30.5 PTH CALCA BGLAP
7 adenoma 30.5 PTH GNAS CDC73 CASR
8 end stage renal disease 30.3 PTH IL6 FGF23
9 hyperparathyroidism 2 with jaw tumors 30.3 CDC73 CASR
10 hypervitaminosis a 30.2 PTH BGLAP
11 clear cell adenoma 30.1 PTH CDC73
12 uremia 30.1 PTH IL6 CASR B2M
13 osteogenic sarcoma 30.1 PTH IL6 IL11 BGLAP
14 calciphylaxis 30.0 PTH FGF23 CASR
15 calcinosis 30.0 GNAS FGF23 CALCA
16 rickets 29.9 PTH FGF23 CASR CALCA BGLAP
17 parathyroid adenoma 29.9 PTH GNAS CDC73 CASR CALCA BGLAP
18 hyperthyroidism 29.8 PTH IL6 GNAS CALCA BGLAP
19 parathyroid carcinoma 29.7 PTH CDC73 CASR CALCA
20 secondary hyperparathyroidism 29.7 PTH FGF23 CASR CALCA BGLAP B2M
21 hypophosphatemia 29.6 PTH FGF23 BGLAP B2M
22 renal osteodystrophy 29.6 SOST PTH FGF23 CASR CALCA BGLAP
23 hyperphosphatemia 29.5 PTH GNAS FGF23 CASR BGLAP
24 osteomalacia 29.5 SOST PTH FGF23 CASR CALCA BGLAP
25 myeloma, multiple 29.5 SOST PTH IL6 IL11 BGLAP B2M
26 hyperparathyroidism 29.3 SOST PTH FGF23 CDC73 CASR CALCA
27 kidney disease 29.3 PTH IL6 FGF23 CASR BGLAP B2M
28 fibrous dysplasia 29.2 GNAS FGF23 CDC73 CALCA BGLAP
29 bone resorption disease 29.1 SOST PTH IL6 FGF23 CASR CALCA
30 primary hyperparathyroidism 29.1 SOST PTH FGF23 CDC73 CASR CALCA
31 bone disease 28.6 SOST PTH IL6 IL11 FGF23 CASR
32 diabetes mellitus 28.6 PTH IL6 FGF23 CASR CALCA BGLAP
33 chronic kidney disease 28.1 SOST PTH IL6 GNAS FGF23 CASR
34 osteoporosis 27.5 SOST PTH IL6 IL11 GNAS FGF23
35 bone inflammation disease 11.3
36 bullous impetigo 10.4 IL6 CALCA
37 malignant ovarian brenner tumor 10.4 PTH CALCA
38 acute cholangitis 10.4 IL6 CALCA
39 substernal goiter 10.4 PTH CALCA
40 endemic goiter 10.3 PTH CALCA
41 solitary bone cyst 10.3
42 dental pulp disease 10.3 IL6 BGLAP
43 vitamin k deficiency bleeding 10.3 PTH BGLAP
44 tooth resorption 10.3 CALCA BGLAP
45 idiopathic hypercalciuria 10.3 CASR BGLAP
46 sagliker syndrome 10.3 GNAS CASR
47 papillary conjunctivitis 10.3 IL6 IL11
48 giant papillary conjunctivitis 10.3 IL6 IL11
49 graves disease 1 10.3 PTH CALCA
50 bone mineral density quantitative trait locus 8 10.3

Graphical network of the top 20 diseases related to Osteitis Fibrosa:



Diseases related to Osteitis Fibrosa

Symptoms & Phenotypes for Osteitis Fibrosa

MGI Mouse Phenotypes related to Osteitis Fibrosa:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.56 B2M BGLAP CASR CDC73 FGF23 GNAS
2 skeleton MP:0005390 9.23 BGLAP CASR CDC73 FGF23 GNAS IL6

Drugs & Therapeutics for Osteitis Fibrosa

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

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
2 Calcium, Dietary Phase 4
3 Hormones Phase 4
4
Calcium Nutraceutical Phase 4 7440-70-2 271
5
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
6
Alfacalcidol Approved, Nutraceutical 41294-56-8 5282181
7 Maxacalcitol Investigational 103909-75-7
8 Trace Elements
9 Vitamins
10 Hydroxycholecalciferols
11 Nutrients
12 Micronutrients
13 Calciferol

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Study of Efficacy and Safety of Calcium Sensing Receptor in Chronic Dialysis Patients Completed NCT02056730 Phase 4 calcium sensing receptor agonist
2 The Association of Serum Sclerostin Levels,Echocardiographic Parameters, Arteriovenous Fistula Thrombosis and Carpal Tunnel Syndrome in Maintenance Hemodialysis Patients Unknown status NCT01382966
3 Evaluation of Quality of Life in Patients Undergoing Parathyroidectomy Completed NCT00905866
4 A Study of Maintenance Therapy After Intravenous Maxacalcitol for Secondary Hyperparathyroidism Completed NCT00828347 1.0 μg/day Alfacalcidol;0.25 μg/day Alfacalcidol
5 Circulating microRNA Signatures in Primary Hyperparathyroidism Active, not recruiting NCT03931109
6 Characterization of Patients With Idiopathic Hypoparathyroidism, Autosomal Dominant Hypocalcaemia and Pseudohypoparathyroidism Active, not recruiting NCT02551120
7 Bone Metabolism and Cardiovascular Risk After Kidney Transplant in Adult Patients Active, not recruiting NCT02751099

Search NIH Clinical Center for Osteitis Fibrosa

Cochrane evidence based reviews: osteitis fibrosa cystica

Genetic Tests for Osteitis Fibrosa

Anatomical Context for Osteitis Fibrosa

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

19
Bone

MalaCards organs/tissues related to Osteitis Fibrosa:

40
Bone, Kidney, Thyroid, Bone Marrow, Testes, T Cells, Breast

Publications for Osteitis Fibrosa

Articles related to Osteitis Fibrosa:

(show top 50) (show all 695)
# Title Authors PMID Year
1
Management of calcium and bone abnormalities in hemodialysis patients. 61 54
15490408 2004
2
[Selected parameters of bone metabolism in hemodialyzed and peritoneally dialyzed patients]. 61 54
11398592 2000
3
Renal ostodystrophy during the developing stage of maintenance dialysis in Transylvania. Early development of periarticular calcifications and beta 2 microglobulin amyloidosis in spite of a relatively good prevention of secondary hyperparathyroidism. 54 61
11490527 1998
4
Symptomatic hypercalcemia in a diabetic patient undergoing continuous ambulatory peritoneal dialysis: value of bone biopsy in the diagnosis and management. 61 54
7485141 1995
5
[Clinical study of total parathyroidectomy and autotransplantation for secondary hyperparathyroidism]. 61 54
1474716 1992
6
Osteitis Fibrosa Cystica Caused by Hyperparathyroidism Shown on 18F-NaF PET/CT. 61
32453081 2020
7
Warfarin-induced impairment of bone material quality in a patient undergoing maintenance hemodialysis: A case report. 61
32569210 2020
8
RADIOLOGICAL MANIFESTATION OF BONE INVOLVEMENT IN PRIMARY HYPERPARATHYROIDISM: PREVALENCE AND CLINICAL SIGNIFICANCE IN A SOUTHERN EUROPEAN SERIES. 61
32407658 2020
9
Quantitative histomorphometric analysis of halved iliac crest bone biopsies yield comparable ROD diagnosis as full 7.5mm wide samples. 61
32485361 2020
10
Osteitis Fibrosa Cystica. 61
32160666 2020
11
Multifocal osteolytic lesions of jaw as a road map to diagnosis of brown tumor of hyperparathyroidism: A rare case report with review of literature. 61
32189907 2020
12
Bone turnover markers predict type of bone histomorphometry and bone mineral density in Asian chronic haemodialysis patients. 61
30980579 2020
13
Renal osteodystrophy and clinical outcomes: data from the Brazilian Registry of Bone Biopsies - REBRABO. 61
31967202 2020
14
Radiological diagnostic features of uremic leontiasis ossea: a case report. 61
31559846 2020
15
A complex case of brown tumors as initial manifestation of primary hyperparathyroidism in a young female. 61
31942141 2019
16
Classical complications of primary hyperparathyroidism. 61
30665547 2018
17
Expansive renal osteitis fibrosa: a case report. 61
29725779 2018
18
Brown tumor of multiple facial bones associated with primary hyperparathyroidism: A clinical case report. 61
30113484 2018
19
Osteitis fibrosa cystica. 61
29415233 2018
20
Bone histomorphometry in the evaluation of osteomalacia. 61
29955631 2018
21
Osteitis fibrosa cystica masquerading as bone neoplasm. 61
29735505 2018
22
Suspected Malignant Lesion of the Hip Resolves after Parathyroidectomy: Osteitis Fibrosa Cystica (or Brown Tumor): A Case Report. 61
29996036 2018
23
Refractory hyperparathyroidism with a T3 bony lesion-differential diagnoses. 61
29593877 2018
24
[Osteitis fibrosa cystica in the hand: a rare, but important differential diagnosis]. 61
29590703 2018
25
[Fragility Fractures in Hemodialysis Patients. Uremic bone disease:the effect of medical treatment until now.] 61
30049912 2018
26
Oral and maxillofacial manifestations of chronic kidney disease-mineral and bone disorder: a multicenter retrospective study. 61
29104033 2018
27
Mandibular Osteitis Fibrosa Cystica as First Sign of Vitamin D Deficiency. 61
29850279 2018
28
Osteitis fibrosa cystica-a forgotten radiological feature of primary hyperparathyroidism. 61
28900835 2017
29
Osteitis fibrosa cystica of mandible in hyperparathyroidism-jaw tumor syndrome: A rare presentation and review of literature. 61
29386822 2017
30
Osteolytic lesions: osteitis fibrosa cystica in the setting of severe primary hyperparathyroidism. 61
28554885 2017
31
A patient with a history of breast cancer and multiple bone lesions: a case report. 61
28476174 2017
32
The use of bone turnover markers in chronic kidney disease-mineral and bone disorders. 61
28429547 2017
33
Osteitis fibrosa cystica. 61
27238197 2017
34
Management of adynamic bone disease in chronic kidney disease: A brief review. 61
29067232 2016
35
We Use Too Much Vitamin D in Hemodialysis Patients. 61
27075415 2016
36
A COMPARATIVE ANALYSIS OF THE INITIAL EAST EUROPEAN CENTER EXPERIENCE WITH A WESTERN HIGH-VOLUME CENTER FOR OPEN MINIMALLY INVASIVE PARATHYROIDECTOMY (OMIP) AS TREATMENT OF PRIMARY HYPERPARATHYROIDISM. 61
31149104 2016
37
Impact of curative surgery on bone in a patient with osteitis fibrosa cystica of primary hyperparathyroidism. 61
27030464 2016
38
Bone histomorphometry and indicators of bone and mineral metabolism in wait-listed dialysis patients. 61
26833298 2016
39
Multilevel brown tumors of the spine in a patient with severe secondary hyperparathyroidism A case report and review of the literature. 61
27064191 2016
40
Changing bone patterns with progression of chronic kidney disease. 61
26806832 2016
41
Jaw tumor in primary hyperparathyroidism is not always a brown tumor. 61
27252751 2016
42
Resection of a large ectopic parathyroid adenoma: A case report. 61
27078868 2016
43
A Rare Case of Concomitant Maxilla and Mandible Brown Tumours, Papillary Thyroid Carcinoma, Parathyroid Adenoma, and Osteitis Fibrosa Cystica. 61
26881146 2016
44
Multiple 'Brown Tumors' Masquerading as Metastatic Bone Disease. 61
26848420 2015
45
Osteitis fibrosa cystica in primary hyperparathyroidism. 61
26261355 2015
46
Vitamin D and Clinical Outcomes in Dialysis. 61
26424141 2015
47
Facial disfigurement due to osteitis fibrosa cystica or brown tumor from secondary hyperparathyroidism in patients on dialysis: A systematic review and an illustrative case report. 61
25828738 2015
48
A rare case describing catastrophic destruction of the whole skeleton caused by severe hyperparathyroidism. 61
26491001 2015
49
Hyperparathyroidism and Bone Health. 61
26105042 2015
50
Osteitis fibrosa cystica in a domestic young cat. 61
28491388 2015

Variations for Osteitis Fibrosa

Expression for Osteitis Fibrosa

Search GEO for disease gene expression data for Osteitis Fibrosa.

Pathways for Osteitis Fibrosa

GO Terms for Osteitis Fibrosa

Cellular components related to Osteitis Fibrosa according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.56 SOST PTH IL6 IL11 FGF23 CALCA
2 endoplasmic reticulum lumen GO:0005788 9.46 IL6 FGF23 BGLAP B2M
3 extracellular region GO:0005576 9.28 SOST PTH IL6 IL11 GNAS FGF23

Biological processes related to Osteitis Fibrosa according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.72 PTH GNAS BGLAP
2 response to drug GO:0042493 9.71 PTH GNAS BGLAP B2M
3 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.67 PTH GNAS CALCA
4 cellular calcium ion homeostasis GO:0006874 9.65 PTH CASR CALCA
5 ossification GO:0001503 9.63 SOST CASR BGLAP
6 negative regulation of neurogenesis GO:0050768 9.58 IL6 B2M
7 response to cadmium ion GO:0046686 9.58 PTH B2M
8 regulation of bone mineralization GO:0030500 9.57 FGF23 BGLAP
9 negative regulation of ossification GO:0030279 9.56 SOST CALCA
10 vasodilation GO:0042311 9.54 CASR CALCA
11 response to vitamin D GO:0033280 9.52 PTH BGLAP
12 negative regulation of bone resorption GO:0045779 9.51 IL6 CALCA
13 cellular protein metabolic process GO:0044267 9.46 IL6 FGF23 CALCA B2M
14 negative regulation of hormone secretion GO:0046888 9.43 IL11 FGF23
15 cellular response to parathyroid hormone stimulus GO:0071374 9.37 SOST FGF23
16 response to fibroblast growth factor GO:0071774 9.32 PTH CASR
17 phosphate ion homeostasis GO:0055062 9.26 PTH FGF23
18 response to parathyroid hormone GO:0071107 8.96 PTH GNAS
19 cellular response to vitamin D GO:0071305 8.8 FGF23 CASR BGLAP

Molecular functions related to Osteitis Fibrosa according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor activity GO:0008083 8.8 IL6 IL11 FGF23

Sources for Osteitis Fibrosa

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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