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 G alpha (s) signalling events and Rheumatoid arthritis. The drugs Parathyroid hormone and Calcium have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and thyroid, and related phenotype is endocrine/exocrine gland.

Wikipedia : 74 Osteitis fibrosa cystica (/??sti'a?t?s fa?'bro?s? 's?st?k?/ OS-tee-AY-tis fy-BROH-s? SIS-tik-?), 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 155)
# Related Disease Score Top Affiliating Genes
1 pseudohypoparathyroidism, type ib 32.9 PTH GNAS BGLAP
2 mccune-albright syndrome 32.6 GNAS FGF23 BGLAP
3 adenoma 30.7 PTH GNAS CDC73 CASR
4 giant cell reparative granuloma 30.6 PTH CALCA
5 hyperparathyroidism 2 with jaw tumors 30.6 CDC73 CASR
6 pseudohypoparathyroidism 30.6 PTH GNAS CALCA BGLAP
7 end stage renal failure 30.4 PTH IL6 CALCA BGLAP
8 mammary paget's disease 30.4 PTH CALCA BGLAP
9 clear cell adenoma 30.4 PTH CDC73
10 bone giant cell tumor 30.4 PTH CALCA
11 parathyroid adenoma 30.0 PTH GNAS CDC73 CASR CALCA BGLAP
12 osteogenic sarcoma 30.0 PTH IL6 IL11 BGLAP
13 hyperthyroidism 30.0 PTH GNAS CALCA BGLAP
14 parathyroid carcinoma 30.0 PTH CDC73 CASR CALCA
15 uremia 29.9 PTH IL6 CASR B2M
16 myeloma, multiple 29.9 PTH IL6 IL11 BGLAP B2M
17 hyperparathyroidism 29.9 PTH FGF23 CDC73 CASR CALCA BGLAP
18 renal osteodystrophy 29.8 PTH FGF23 CASR CALCA BGLAP
19 osteomalacia 29.8 PTH FGF23 CASR CALCA BGLAP
20 hypophosphatemia 29.8 PTH FGF23 BGLAP
21 calcinosis 29.7 PTH FGF23 CALCA
22 calciphylaxis 29.7 PTH FGF23 CASR
23 rickets 29.6 PTH FGF23 CASR BGLAP
24 bone resorption disease 29.3 PTH IL6 FGF23 CASR CALCA BGLAP
25 secondary hyperparathyroidism 29.3 PTH FGF23 CASR CALCA BGLAP B2M
26 hyperphosphatemia 29.2 PTH GNAS FGF23 CASR BGLAP
27 fibrous dysplasia 28.9 IL6 GNAS FGF23 CDC73 CALCA BGLAP
28 primary hyperparathyroidism 28.9 PTH IL6 GNAS FGF23 CDC73 CASR
29 kidney disease 28.8 PTH IL6 FGF23 CASR BGLAP B2M
30 bone disease 28.8 PTH IL6 IL11 FGF23 CASR CALCA
31 chronic kidney disease 28.2 PTH IL6 GNAS FGF23 CASR BGLAP
32 osteoporosis 27.6 PTH IL6 IL11 GNAS FGF23 CASR
33 bone inflammation disease 11.3
34 giant cell tumor 10.5
35 bullous impetigo 10.4 IL6 CALCA
36 impetigo 10.4 IL6 CALCA
37 malignant ovarian brenner tumor 10.4 PTH CALCA
38 acute cholangitis 10.4 IL6 CALCA
39 tooth resorption 10.3 CALCA BGLAP
40 solitary bone cyst 10.3
41 endemic goiter 10.3 PTH CALCA
42 vitamin k deficiency bleeding 10.3 PTH BGLAP
43 idiopathic hypercalciuria 10.3 CASR BGLAP
44 papillary conjunctivitis 10.3 IL6 IL11
45 hypocalciuric hypercalcemia, familial, type iii 10.3 PTH CASR
46 sagliker syndrome 10.3 GNAS CASR
47 osseous heteroplasia, progressive 10.3 GNAS BGLAP
48 polyradiculopathy 10.3 IL6 CALCA
49 giant papillary conjunctivitis 10.3 IL6 IL11
50 graves disease 1 10.3 PTH CALCA

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 9.17 B2M CASR CDC73 FGF23 GNAS IL6

Drugs & Therapeutics for Osteitis Fibrosa

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

(show all 15)
# 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 7440-70-2 271
3 Calcium, Dietary Phase 4
4 Hormones Phase 4
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 Vitamins
9 Trace Elements
10 Micronutrients
11 Protective Agents
12 Nutrients
13 Hydroxycholecalciferols
14 Dermatologic Agents
15 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 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 687)
# 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]. 54 61
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. 61 54
11490527 1998
4
Symptomatic hypercalcemia in a diabetic patient undergoing continuous ambulatory peritoneal dialysis: value of bone biopsy in the diagnosis and management. 54 61
7485141 1995
5
[Clinical study of total parathyroidectomy and autotransplantation for secondary hyperparathyroidism]. 54 61
1474716 1992
6
Radiological diagnostic features of uremic leontiasis ossea: a case report. 61
31559846 2020
7
Bone turnover markers predict type of bone histomorphometry and bone mineral density in Asian chronic haemodialysis patients. 61
30980579 2019
8
Classical complications of primary hyperparathyroidism. 61
30665547 2018
9
Expansive renal osteitis fibrosa: a case report. 61
29725779 2018
10
Brown tumor of multiple facial bones associated with primary hyperparathyroidism: A clinical case report. 61
30113484 2018
11
Osteitis fibrosa cystica. 61
29415233 2018
12
Bone histomorphometry in the evaluation of osteomalacia. 61
29955631 2018
13
Osteitis fibrosa cystica masquerading as bone neoplasm. 61
29735505 2018
14
Suspected Malignant Lesion of the Hip Resolves after Parathyroidectomy: Osteitis Fibrosa Cystica (or Brown Tumor): A Case Report. 61
29996036 2018
15
Refractory hyperparathyroidism with a T3 bony lesion-differential diagnoses. 61
29593877 2018
16
[Osteitis fibrosa cystica in the hand: a rare, but important differential diagnosis]. 61
29590703 2018
17
[Fragility Fractures in Hemodialysis Patients. Uremic bone disease:the effect of medical treatment until now.] 61
30049912 2018
18
Oral and maxillofacial manifestations of chronic kidney disease-mineral and bone disorder: a multicenter retrospective study. 61
29104033 2018
19
Mandibular Osteitis Fibrosa Cystica as First Sign of Vitamin D Deficiency. 61
29850279 2018
20
Osteitis fibrosa cystica-a forgotten radiological feature of primary hyperparathyroidism. 61
28900835 2017
21
Osteitis fibrosa cystica of mandible in hyperparathyroidism-jaw tumor syndrome: A rare presentation and review of literature. 61
29386822 2017
22
Osteolytic lesions: osteitis fibrosa cystica in the setting of severe primary hyperparathyroidism. 61
28554885 2017
23
A patient with a history of breast cancer and multiple bone lesions: a case report. 61
28476174 2017
24
The use of bone turnover markers in chronic kidney disease-mineral and bone disorders. 61
28429547 2017
25
Osteitis fibrosa cystica. 61
27238197 2017
26
Management of adynamic bone disease in chronic kidney disease: A brief review. 61
29067232 2016
27
We Use Too Much Vitamin D in Hemodialysis Patients. 61
27075415 2016
28
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
29
Impact of curative surgery on bone in a patient with osteitis fibrosa cystica of primary hyperparathyroidism. 61
27030464 2016
30
Multilevel brown tumors of the spine in a patient with severe secondary hyperparathyroidism A case report and review of the literature. 61
27064191 2016
31
Bone histomorphometry and indicators of bone and mineral metabolism in wait-listed dialysis patients. 61
26833298 2016
32
Changing bone patterns with progression of chronic kidney disease. 61
26806832 2016
33
Jaw tumor in primary hyperparathyroidism is not always a brown tumor. 61
27252751 2016
34
Resection of a large ectopic parathyroid adenoma: A case report. 61
27078868 2016
35
A Rare Case of Concomitant Maxilla and Mandible Brown Tumours, Papillary Thyroid Carcinoma, Parathyroid Adenoma, and Osteitis Fibrosa Cystica. 61
26881146 2016
36
Multiple 'Brown Tumors' Masquerading as Metastatic Bone Disease. 61
26848420 2015
37
Osteitis fibrosa cystica in primary hyperparathyroidism. 61
26261355 2015
38
Vitamin D and Clinical Outcomes in Dialysis. 61
26424141 2015
39
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
40
A rare case describing catastrophic destruction of the whole skeleton caused by severe hyperparathyroidism. 61
26491001 2015
41
Osteitis fibrosa cystica in a domestic young cat. 61
28491388 2015
42
Unusual presentation of primary hyperparathyroidism: report of three cases. 61
26179753 2015
43
Hyperparathyroidism and Bone Health. 61
26105042 2015
44
Brown tumors: severe osteitis fibrosa cystica. 61
25939949 2015
45
Skeletal lesions in primary hyperparathyroidism. 61
25798829 2015
46
Aneurysmal bone cyst does not hinder the success of kidney transplantation. A case report. 61
25514989 2015
47
Expansive jaw lesions in chronic kidney disease: review of the literature and a report of two cases. 61
25547821 2015
48
Tumor suppressor gene mutation in a patient with a history of hyperparathyroidism-jaw tumor syndrome and healed generalized osteitis fibrosa cystica: a case report and genetic pathophysiology review. 61
25511968 2015
49
Maxillofacial brown tumors in secondary hyperparathyroidism: A case report and literature review. 61
25657758 2014
50
Surgical management of primary hyperparathyroidism in older adults. 61
25113865 2014

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 9.5 PTH IL6 IL11 FGF23 CALCA BGLAP
2 endoplasmic reticulum lumen GO:0005788 9.46 IL6 FGF23 BGLAP B2M
3 extracellular region GO:0005576 9.23 PTH IL6 IL11 GNAS FGF23 CALCA

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.65 PTH GNAS BGLAP
2 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.58 PTH GNAS CALCA
3 negative regulation of neurogenesis GO:0050768 9.51 IL6 B2M
4 regulation of bone mineralization GO:0030500 9.49 FGF23 BGLAP
5 response to vitamin D GO:0033280 9.46 PTH BGLAP
6 cellular protein metabolic process GO:0044267 9.46 IL6 FGF23 CALCA B2M
7 negative regulation of bone resorption GO:0045779 9.43 IL6 CALCA
8 negative regulation of hormone secretion GO:0046888 9.37 IL11 FGF23
9 response to fibroblast growth factor GO:0071774 9.32 PTH CASR
10 phosphate ion homeostasis GO:0055062 9.26 PTH FGF23
11 response to parathyroid hormone GO:0071107 8.96 PTH GNAS
12 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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