MCID: OST004
MIFTS: 38

Osteitis Fibrosa

Categories: Bone diseases, Endocrine diseases, Nephrological diseases
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Aliases & Classifications for Osteitis Fibrosa

MalaCards integrated aliases for Osteitis Fibrosa:

Name: Osteitis Fibrosa 11 53 14 16
Osteitis Fibrosa Cystica 43 71 75
Osteitis Fibrosa Cystica Generalisata 11
Von Recklinghausen's Bone Disease 11
Hyperparathyroid Bone Disease 11
Osteitis Fibrosa Disseminata 71

Classifications:



External Ids:

Disease Ontology 11 DOID:3341
MeSH 43 D010002
NCIt 49 C34875
SNOMED-CT 68 190451000
UMLS 71 C0016063 C0029405

Summaries for Osteitis Fibrosa

Disease Ontology: 11 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 Signal Transduction and Vitamin D receptor pathway. Affiliated tissues include bone, kidney and eye, and related phenotypes are homeostasis/metabolism and endocrine/exocrine gland

Wikipedia: 75 Osteitis fibrosa cystica (/ˌɒstiˈaɪtɪs faɪˈbroʊsə ˈsɪstɪkə/ OSS-tee-EYE-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 204)
# Related Disease Score Top Affiliating Genes
1 pseudohypoparathyroidism, type ib 32.1 PTH GNAS BGLAP
2 mccune-albright syndrome 31.6 SOST PTH GNAS FGF23
3 adenoma 30.7 PTH GNAS CDC73 CASR
4 hyperparathyroidism 2 with jaw tumors 30.6 CDC73 CASR
5 pseudohypoparathyroidism 30.6 PTH GNAS CALCA BGLAP
6 giant cell reparative granuloma 30.4 PTH CALCA
7 graves disease 1 30.3 PTH CALCA
8 renal osteodystrophy 30.3 PTH FGF23 CASR CALCA BGLAP
9 benign giant cell tumor 30.3 FGF23 CALCA BGLAP
10 parathyroid adenoma 30.2 PTH GNAS CDC73 CASR CALCA AP2S1
11 pseudohypoparathyroidism, type ia 30.1 PTH GNAS
12 secondary hyperparathyroidism 30.1 PTH FGF23 CASR CALCA BGLAP B2M
13 parathyroid carcinoma 30.1 PTH CDC73 CASR CALCA
14 rickets 30.1 PTH FGF23 CASR CALCA BGLAP
15 calcinosis 30.0 GNAS FGF23 CALCA
16 calciphylaxis 30.0 PTH FGF23 CASR
17 osteogenic sarcoma 30.0 PTH IL6 IL11 BGLAP
18 hyperparathyroidism 29.9 SOST PTH FGF23 CDC73 CASR CALCA
19 paget's disease of bone 29.9 PTH CALCA BGLAP B2M
20 hyperthyroidism 29.8 PTH IL6 GNAS CALCA BGLAP
21 hyperphosphatemia 29.8 PTH GNAS FGF23 CASR BGLAP
22 uremia 29.7 PTH IL6 FGF23 CASR B2M
23 osteomalacia 29.7 SOST PTH FGF23 CASR CALCA BGLAP
24 mammary paget's disease 29.6 SOST PTH CALCA BGLAP
25 myeloma, multiple 29.6 IL6 IL11 BGLAP B2M
26 fibrous dysplasia 29.5 IL6 GNAS FGF23 CDC73 CALCA BGLAP
27 primary hyperparathyroidism 29.3 SOST PTH FGF23 CDC73 CASR CALCA
28 hypophosphatemia 29.2 SOST PTH GNAS FGF23 BGLAP
29 bone disease 29.1 SOST PTH IL6 IL11 FGF23 CASR
30 chronic kidney disease 29.0 SOST PTH IL6 FGF23 CASR CALCA
31 kidney disease 28.5 SOST PTH IL6 GNAS FGF23 CASR
32 diabetes mellitus 28.4 SOST PTH IL6 FGF23 CASR CALCA
33 parathyroid gland disease 28.4 SOST PTH FGF23 CDC73 CASR CALCA
34 osteoporosis 28.3 SOST PTH IL6 IL11 GNAS FGF23
35 bone inflammation disease 11.2
36 neurofibromatosis-noonan syndrome 10.3
37 tetanic cataract 10.3 PTH CALCA
38 endocrine exophthalmos 10.3 IL6 BGLAP
39 malignant ovarian brenner tumor 10.3 PTH CALCA
40 frozen shoulder 10.3 IL6 CALCA
41 substernal goiter 10.3 PTH CALCA
42 paralytic ileus 10.3 IL6 CALCA
43 thyrotoxic exophthalmos 10.3 IL6 BGLAP
44 kohler's disease 10.3 PTH CALCA
45 isthmus cancer 10.3 PTH CALCA
46 bone giant cell tumor 10.3
47 solitary bone cyst 10.3
48 endemic goiter 10.3 PTH CALCA
49 mononeuropathy 10.2 IL6 CALCA
50 plummer's disease 10.2 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 homeostasis/metabolism MP:0005376 10.14 B2M BGLAP CALCA CASR CDC73 FGF23
2 endocrine/exocrine gland MP:0005379 9.97 B2M BGLAP CASR CDC73 FGF23 GNAS
3 cardiovascular system MP:0005385 9.91 AP2S1 B2M CALCA CDC73 FGF23 GNAS
4 digestive/alimentary MP:0005381 9.87 AP2S1 B2M CASR CDC73 FGF23 GNAS
5 skeleton MP:0005390 9.81 BGLAP CALCA CASR CDC73 FGF23 GNAS
6 mortality/aging MP:0010768 9.65 AP2S1 B2M CALCA CASR CDC73 FGF23
7 integument MP:0010771 9.17 B2M CALCA CASR CDC73 FGF23 GNAS

Drugs & Therapeutics for Osteitis Fibrosa

Search Clinical Trials, NIH Clinical Center for Osteitis Fibrosa

Cochrane evidence based reviews: osteitis fibrosa cystica

Genetic Tests for Osteitis Fibrosa

Anatomical Context for Osteitis Fibrosa

Organs/tissues related to Osteitis Fibrosa:

FMA: Bone
MalaCards : Bone, Kidney, Eye, Bone Marrow, Thyroid, Breast, Skin

Publications for Osteitis Fibrosa

Articles related to Osteitis Fibrosa:

(show top 50) (show all 850)
# Title Authors PMID Year
1
Management of calcium and bone abnormalities in hemodialysis patients. 53 62
15490408 2004
2
[Selected parameters of bone metabolism in hemodialyzed and peritoneally dialyzed patients]. 53 62
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. 53 62
11490527 1998
4
Symptomatic hypercalcemia in a diabetic patient undergoing continuous ambulatory peritoneal dialysis: value of bone biopsy in the diagnosis and management. 53 62
7485141 1995
5
[Clinical study of total parathyroidectomy and autotransplantation for secondary hyperparathyroidism]. 53 62
1474716 1992
6
Occult Pulmonary Neuroendocrine Tumor Causing Severe Hyperparathyroidism: Diagnostic Challenges and Clinical Outcomes. 62
36189140 2022
7
Evaluation of Renal Osteodystrophy and Serum Bone-Related Biomarkers in a Peritoneal Dialysis Population. 62
35704534 2022
8
Manifestations of hyperparathyroidism in the jaws: Concepts, mechanisms, and clinical aspects. 62
35181256 2022
9
A patient with femoral osteitis fibrosa cystica mimicking bone neoplasm: a case report. 62
35379205 2022
10
Multiple Focal Brown Tumors (Osteitis Fibrosa Cystica) in a Renal Transplant Recipient. 62
35295209 2022
11
The latest anatomical discovery: the parathyroid glands or Glandulae parathyreoideae of Owen-Sandström-Gley. 62
35120101 2022
12
Osteitis Fibrosa Cystica; A Forgotten Manifestation of Secondary Hyperparathyroidism Due to End-Stage Renal Disease: A Case Report. 62
36171913 2022
13
Primary hyperparathyroidism misdiagnosed as metastatic disease, with trans-oral endoscopic surgical management. 62
34348509 2022
14
Renal hyperparathyroidism. 62
35953115 2022
15
Bone Histomorphometry and 18F-Sodium Fluoride Positron Emission Tomography Imaging: Comparison Between only Bone Turnover-based and Unified TMV-based Classification of Renal Osteodystrophy. 62
34137924 2021
16
Skeletal abnormalities in Hypoparathyroidism and in Primary Hyperparathyroidism. 62
33200346 2021
17
Osteoporosis and Chronic Kidney Disease-Mineral and Bone Disorder (CKD-MBD): Back to Basics. 62
33774081 2021
18
Case report: Osteomalacia due to bisphosphonate treatment in a patient on hemodialysis. 62
34479496 2021
19
Brown Tumor With Spine Involvement at Multiple Levels in a Hemodialysis Patient. 62
34540402 2021
20
Differences in Primary Hyperparathyroidism Between Pre- and Postmenopausal Women in India. 62
33685668 2021
21
Molecular Imaging with 18F-FDG PET/CT and 99mTc-MIBI SPECT/CT in Osteitis Fibrosa Cystica Generalisata. 62
34441290 2021
22
Correction to: Osteitis fibrosa cystica von Recklinghausen. 62
33772726 2021
23
Osteitis fibrosa cystica von Recklinghausen. 62
33555577 2021
24
New bone-like tissue formation in calcific tendinopathy: A case report. 62
33898660 2021
25
Hyperparathyroidism shows its hand: findings of osteitis fibrosa cystica. 62
34022989 2021
26
Osteitis Fibrosa Cystica and pathological fractures-the classic but neglected skeletal manifestation of primary hyperparathyroidism: a case report. 62
33990191 2021
27
Osteitis fibrosa cystica mimicking bone tumor, a case report. 62
34034731 2021
28
Giant parathyroid adenoma diagnosed by brown tumour, a clinical manifestation of primary hyperparathyroidism: A case report. 62
34125787 2021
29
Old and New Drugs for the Management of Bone Disorders in CKD. 62
33386480 2021
30
Diabetes and Bone Involvement in Primary Hyperparathyroidism: Literature Review and Our Personal Experience. 62
33953702 2021
31
Multiple brown tumors-Forgotten pathology in times of calcimimetics: A case report and literature review. 62
34394940 2021
32
Treatment of pathological fractures due to brown tumours in a patient with hyperparathyroidism and lack of parafibromin expression - A case report. 62
33204800 2020
33
Osteitis Fibrosa Cystica. 62
33840967 2020
34
Osteoblastic differentiation of bone marrow mesenchymal stem cells in uremic rats. 62
32826057 2020
35
Quantitative histomorphometric analysis of halved iliac crest bone biopsies yield comparable ROD diagnosis as full 7.5mm wide samples. 62
32485361 2020
36
Radiologic Manifestation of Bone Involvement in Primary Hyperparathyroidism: Prevalence and Clinical Significance in a Southern European Series. 62
33471703 2020
37
Osteitis Fibrosa Cystica. 62
32995697 2020
38
Osteitis Fibrosa Cystica Caused by Hyperparathyroidism Shown on 18F-NaF PET/CT. 62
32453081 2020
39
Warfarin-induced impairment of bone material quality in a patient undergoing maintenance hemodialysis: A case report. 62
32569210 2020
40
RADIOLOGICAL MANIFESTATION OF BONE INVOLVEMENT IN PRIMARY HYPERPARATHYROIDISM: PREVALENCE AND CLINICAL SIGNIFICANCE IN A SOUTHERN EUROPEAN SERIES. 62
32407658 2020
41
Osteitis Fibrosa Cystica. 62
32160666 2020
42
Bone turnover markers predict type of bone histomorphometry and bone mineral density in Asian chronic haemodialysis patients. 62
30980579 2020
43
Multifocal osteolytic lesions of jaw as a road map to diagnosis of brown tumor of hyperparathyroidism: A rare case report with review of literature. 62
32189907 2020
44
A Novel Variant in the Calcium-Sensing Receptor Associated with Familial Hypocalciuric Hypercalcemia and Low-to-Normal PTH. 62
33062349 2020
45
Renal osteodystrophy and clinical outcomes: data from the Brazilian Registry of Bone Biopsies - REBRABO. 62
32756862 2020
46
Radiological diagnostic features of uremic leontiasis ossea: a case report. 62
31559846 2020
47
Brown tumor due to primary hyperparathyroidism resulting in acute paraparesis: Case report and literature review. 62
33194288 2020
48
A complex case of brown tumors as initial manifestation of primary hyperparathyroidism in a young female. 62
31942141 2019
49
Evaluation of the association of Wnt signaling with coronary artery calcification in patients on dialysis with severe secondary hyperparathyroidism. 62
31477034 2019
50
Primary hyperparathyroid bone disease. 62
30629246 2019

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 9.86 SOST PTH IL6 IL11 FGF23 CALCA
2 extracellular region GO:0005576 9.55 SOST PTH IL6 IL11 GNAS FGF23

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

# Name GO ID Score Top Affiliating Genes
1 phosphate ion homeostasis GO:0055062 9.71 PTH FGF23
2 cellular response to parathyroid hormone stimulus GO:0071374 9.67 SOST FGF23
3 negative regulation of hormone secretion GO:0046888 9.62 IL11 FGF23
4 response to fibroblast growth factor GO:0071774 9.56 PTH CASR
5 ossification GO:0001503 9.5 SOST CASR CALCA BGLAP
6 response to parathyroid hormone GO:0071107 9.33 PTH GNAS
7 cellular response to vitamin D GO:0071305 9.1 FGF23 CASR BGLAP

Sources for Osteitis Fibrosa

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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