MCID: OST019
MIFTS: 56

Osteosclerosis malady

Bone diseases category

Summaries for Osteosclerosis

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8Disease Ontology, 63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Osteosclerosis, an elevation in bone density, is normally detected on a radiograph as an area of... more...

MalaCards: Osteosclerosis is related to hepatitis and hepatitis c. An important gene associated with Osteosclerosis is LRP5 (low density lipoprotein receptor-related protein 5), and among its related pathways are Osteoblast Signaling and Folate biosynthesis. The compounds estrogen and procollagen have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and prostate, and related mouse phenotypes are limbs/digits/tail and endocrine/exocrine gland.

Disease Ontology:8 A bone remodeling disease that results in abnormal elevated bone density or mass.

Description from OMIM:46 144750

Aliases & Classifications for Osteosclerosis

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8Disease Ontology, 46OMIM, 10DISEASES, 44Novoseek, 60UMLS, 39NCIt, 34MeSH, 56SNOMED-CT
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Bone diseases


Aliases & Descriptions:

osteosclerosis 8 46 10 44 60


External Ids:

Disease Ontology8 DOID:4254
NCIt39 C41236
SNOMED-CT56 49347007
MeSH34 D010026

Related Diseases for Osteosclerosis

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Osteosclerosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 201)
idRelated DiseaseScoreTop Affiliating Genes
1hepatitis30.6AIRE, IGFBP2
2hepatitis c30.6THPO
3myelofibrosis30.6THPO, TNFRSF11B
4osteopetrosis30.5TNFRSF11A, TNFSF11, TNFRSF11B, CTSK, LRP5
5hyperparathyroidism30.4TNFSF11, TNFRSF11B, ALPL, ALPPL2
6leukemia30.4ALPPL2, ALPL, THPO, IL11, IGFBP2, BMP2
7myeloma30.4TNFRSF11A, TNFSF11, TNFRSF11B, CTSK, BMP2, IL11
8multiple myeloma30.3TNFRSF11B, TNFSF11
9renal osteodystrophy30.0ALPPL2, ALPL, TNFRSF11B
10osteoporosis30.0SOST, TNFRSF11A, TNFSF11, TNFRSF11B, CTSK, BMP2
11sost-related sclerosing bone dysplasia29.9SOST, LRP5
12rheumatoid arthritis29.9TNFRSF11A, TNFSF11, TNFRSF11B, CTSK, BMP2, IL11
13arthritis29.9TNFRSF11A, TNFSF11, TNFRSF11B, CTSK, BMP2, ALPL
14periodontitis29.7TNFRSF11B
15hyperostosis29.7LRP5, SOST
16sarcoma29.7THPO, IGF2, BMP2
17osteitis fibrosa29.7PDLIM3, ALPL, ALPPL2
18bone carcinoma29.7BMP2, TNFRSF11B, TNFSF11, TNFRSF11A
19prostate cancer29.7IGFBP2, IGF2, BMP2, TNFSF11
20megakaryocytic leukemia29.7IL11, THPO
21diabetes mellitus29.7BMP2, IGFBP2, AIRE, LRP5, ALPL, ALPPL2
22deficiency anemia29.7ALPPL2, ALPL, THPO, IL11
23hepatitis a10.2
24axial osteosclerosis10.2
25osteosclerosis with ichthyosis and premature ovarian failure10.2
26osteopoikilosis10.2
27primary hyperparathyroidism10.1
28poems syndrome10.1
29acute leukemia10.1
30prostatitis10.1
31hyperostosis corticalis generalisata, benign form of worth with torus palatinus10.1
32craniofacial dysostosis with diaphyseal hyperplasia10.1
33achondroplasia10.1
34adult syndrome10.1
35periostitis10.1
36hyperostosis, endosteal10.1
37osteosclerosis - developmental delay - craniosynostosis10.1
38blindness10.0LRP5
39polycythemia10.0THPO
40cystic fibrosis10.0TNFRSF11B
41primary hyperoxaluria10.0TNFRSF11B
42iron deficiency anemia10.0THPO
43ankylosis10.0BMP2
44obesity10.0IGFBP2, CTSK
45germ cell cancer10.0ALPPL2
46chondrosarcoma10.0BMP2, CTSK
47anorexia nervosa10.0TNFRSF11B, IGFBP2
48hypersplenism10.0THPO
49gingivitis10.0TNFSF11, TNFRSF11B
50giant cell tumor10.0CTSK, TNFSF11

Graphical network of the top 20 diseases related to Osteosclerosis:



Diseases related to osteosclerosis

Clinical Features for Osteosclerosis

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Sources:
46OMIM
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Clinical features from OMIM:

144750

Drugs & Therapeutics for Osteosclerosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Osteosclerosis

Drug clinical trials:

Search ClinicalTrials for Osteosclerosis

Search NIH Clinical Center for Osteosclerosis

Search CenterWatch for Osteosclerosis

Genetic Tests for Osteosclerosis

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Anatomical Context for Osteosclerosis

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Sources:
32MalaCards
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MalaCards organs/tissues related to Osteosclerosis:

32
Bone, Bone marrow, Prostate, Myeloid, Endothelial, T cells, Cerebellum, Spleen, Brain, Testes

Animal Models for Osteosclerosis or affiliated genes

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36MGI
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Publications for Osteosclerosis

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50PubMed
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Articles related to Osteosclerosis:

(show top 50)    (show all 243)
idTitleAuthorsYear
1
Terminal phalangeal osteosclerosis and rheumatoid arthritis. (21324866)
2011
2
The frequency and distribution of idiopathic osteosclerosis of the jaw. (21912499)
2011
3
A case of hepatitis C-associated osteosclerosis with xanthogranulomatous cholecystitis. (21841329)
2011
4
Sclerosing bone dysplasias: review and differentiation from other causes of osteosclerosis. (22084176)
2011
5
Osteosclerosis owing to Notch gain of function is solely Rbpj-dependent. (20499347)
2010
6
Progressive osteosclerosis and visceral calcification after cord blood transplantation. (20162469)
2010
7
Unusual presentation of idiopathic osteosclerosis: a case report. (18348378)
2008
8
VEGF and osteosclerosis in POEMS syndrome. (18172647)
2008
9
Osteoporosis and osteosclerosis in sickle cell/beta-thalassemia: the role of the RANKL/osteoprotegerin axis. (16704959)
2006
10
Stimulation of osteoprotegerin production is responsible for osteosclerosis in mice overexpressing TPO. (12506018)
2003
11
Idiopathic osteosclerosis of the jaws followed through a period of 20-27 years. (12449025)
2002
12
Osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): further delineation. (10482879)
1999
13
Severe, diffuse osteosclerosis: A new manifestation of transitional cell carcinoma of the urinary bladder. (9817940)
1998
14
Pathogenesis of osteosclerosis in autosomal dominant osteopetrosis. (9124142)
1997
15
Changes in osteosclerosis of the osteoarthritic knee after high tibial osteotomy. (9005915)
1997
16
A model of myelofibrosis and osteosclerosis in mice induced by overexpressing thrombopoietin (mpl ligand): reversal of disease by bone marrow transplantation. (8695786)
1996
17
Autosomal dominant osteosclerosis type Stanescu: the third family. (7573138)
1995
18
Wiskott-Aldrich syndrome, renal failure, and osteosclerosis. (8464623)
1993
19
Idiopathic acquired diffuse osteosclerosis in a young woman. (2075839)
1990
20
Metastatic calcification within bone. The main cause of osteosclerosis in hypervitaminosis D3. Radiologic-pathologic correlation. (2174836)
1990
21
Osteomesopyknosis: benign axial osteosclerosis. (3191321)
1988
22
Acute monoblastic leukemia with osteosclerosis and extensive myelofibrosis. (3239709)
1988
23
Intramedullary osteosclerosis. A report of the clinicopathologic features of five cases. (3231574)
1988
24
Osteosclerosis of the femoral head in long-term uraemic rabbits. (7124394)
1982
25
Acute megakaryoblastic leukemia (acute "malignant" myelofibrosis): an unusual cause of osteosclerosis. (6961530)
1982
26
Bovine lameness associated with osteosclerosis. (7341960)
1981
27
Hereditary hypophosphataemic rickets with autosomal recessive inheritance and severe osteosclerosis. A report of two cases. (681423)
1978
28
Autosomal dominant osteosclerosis. (198844)
1977
29
Diffuse osteosclerosis with lymphocytic lymphoma. A case report. (1242532)
1975
30
Localized osteosclerosis in the jaws. (5282292)
1971
31
Osteosclerosis. (5263271)
1970
32
Parathyroid hormone and experimental osteosclerosis. (4195059)
1970
33
Osteosclerosis in multiple myeloma. (5456562)
1970
34
Multiple myeloma, osteosclerosis and neuromyopathy. (5804790)
1969
35
Treatment of osteoporosis, osteosclerosis and osteitis deformans with fluorides. (5245552)
1968
36
OSTEOSCLEROSIS OCCURRING IN RENAL DISEASE. (14268340)
1965
37
SECONDARY MARBLE BONE DISEASE: GENERALISED OSTEOSCLEROSIS AND MYELOFIBROSIS IN CARCINOMA OF PROSTATE WITH A CASE REPORT. (14302719)
1965
38
OSTEOSCLEROSIS IN MYELOMATOSIS. (14256838)
1964
39
PRIMARY HYPERPARATHYROIDISM WITH OSTEOSCLEROSIS AND CALCIFICATION IN ARTICULAR CARTILAGE. (14237435)
1964
40
Osteosclerosis in chronic renal disease. Report of 4 cases associated with secondary hyperparathyroidism. (14003699)
1962
41
Osteosclerosis from intentional ingestion of hydrofluoric acid. (13875725)
1962
42
Osteosclerosis in chronic renal disease. (13487584)
1958
43
Osteosclerosis:a roentgenographic differential diagnosis of residual root tip and osteosclerosis. (13462691)
1957
44
Generalized osteosclerosis associated with diabetes insipidus and neurologic symptoms. (13403543)
1957
45
Generalized osteosclerosis in urticaria pigmentosa, the radiologic aspect. (13372383)
1956
46
Osteopoikilosis (familial disseminated osteosclerosis). (13037717)
1953
47
Spleen aspiration in osteosclerosis and splenic hematopoiesis; rationale of splenectomy. (14902310)
1951
48
Myelofibrosis and generalized osteosclerosis secondary to carcinoma of the prostate. (18139136)
1949
49
Generalized osteosclerosis in disorders of blood formation. (20248653)
1947
50
Disseminated reticuloendothelial tumor of the bone marrow with nodular osteosclerosis. (20999920)
1946

Genetic Variations for Osteosclerosis

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Osteosclerosis:

62
id Symbol AA change Variation ID SNP ID
1LRP5p.Ala214ThrVAR_021810
2LRP5p.Ala214ValVAR_021811
3LRP5p.Ala242ThrVAR_021812

Expression for genes affiliated with Osteosclerosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Osteosclerosis

Search GEO for disease gene expression data for Osteosclerosis.

Pathways for genes affiliated with Osteosclerosis

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Sources:
37NCBI BioSystems Database, 29KEGG, 51QIAGEN, 12EMD Millipore
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Pathways related to Osteosclerosis according to GeneCards/GeneDecks:

(show all 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2TNFRSF11B, TNFSF11
210.0ALPPL2, ALPL
3
Hide members
9.8TNFRSF11A, TNFSF11, TNFRSF11B, CTSK
49.8CTSK, TNFRSF11B, TNFSF11, TNFRSF11A
5
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9.8BMP2, IGF2, LTBP3, THPO
6
Transcription Role of VDR in regulation of genes involved in osteoporosis
Hide members
9.6FOSL1, TNFRSF11B, TNFSF11, TNFRSF11A
79.6IL11, CTSK, TNFSF11, TNFRSF11A
89.5TNFRSF11A, TNFSF11, TNFRSF11B, FOSL1, CTSK
9
Hide members
9.5FOSL1, BMP2, IGF2, LTBP3, THPO
10
Hide members
9.4BMP2, IGF2, LTBP3, IL11, THPO
11
Hide members
9.4IL11, BMP2, TNFRSF11B, TNFSF11, TNFRSF11A
12
Hide members
9.4TNFRSF11A, TNFSF11, BMP2, LTBP3, IL11
13
Hide members
8.7TNFRSF11A, TNFSF11, FOSL1, BMP2, IGF2, LTBP3
14
Hide members
8.6TNFRSF11A, TNFSF11, FOSL1, BMP2, IGF2, LTBP3

Compounds for genes affiliated with Osteosclerosis

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 59Tocris Bioscience, 28IUPHAR, 49PharmGKB, 2BitterDB
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Compounds related to Osteosclerosis according to GeneCards/GeneDecks:

(show top 50)    (show all 75)
idCompoundScoreTop Affiliating Genes
1estrogen4410.8THPO
2procollagen4410.6TNFSF11
3cycloheximide4410.4IGFBP2
4hcc-14410.4TNFRSF11B, TNFSF11
5teriparatide44 1111.4CTSK, TNFRSF11B, TNFSF11
6estradiol44 11 2412.3SLC22A8, IGF2
7indomethacin44 59 28 1113.3BMP2, IGF2, SLC22A8
8zoledronic acid4410.3TNFSF11, TNFRSF11B, CTSK, BMP2
9geranylgeranyl pyrophosphate4410.2BMP2, TNFRSF11B, TNFSF11
10forskolin44 49 1112.2IGFBP2, IL11
11alizarin4410.2BMP2, SP7, ALPL
12denosumab44 1111.2SOST, TNFRSF11A, TNFSF11, TNFRSF11B
13titanium4410.1TNFSF11, TNFRSF11B, BMP2, IL11
14raloxifene44 28 49 1113.1BMP2, TNFRSF11B, TNFSF11, TNFRSF11A
15polyethylene4410.1TNFRSF11A, TNFSF11, TNFRSF11B, CTSK, THPO
16alendronate44 49 1112.1IL11, BMP2, TNFRSF11B, TNFSF11
17dexamethasone44 49 28 1113.0SP7, IGF2, BMP2, TNFRSF11B, TNFSF11
18dhea4410.0IGFBP2, IGF2, TNFRSF11B, TNFSF11
19methylcellulose4410.0THPO, IL11, IGF2, BMP2
20deoxypyridinoline4410.0TNFSF11, TNFRSF11B, IGFBP2, IL11
21polyethylene glycol449.9BMP2, IGF2, IL11, THPO
22p002449.9THPO, IGFBP2, IGF2, TNFRSF11B
23amifostine44 1110.9ALPPL2, ALPL, THPO, IL11
24azathioprine44 49 2 1112.9TNFSF11, TNFRSF11B, BMP2, IGF2, IL11
25heparin44 28 11 2412.9TNFSF11, TNFRSF11B, BMP2, IL11, THPO
26tgf beta1449.9TNFRSF11B, BMP2, IGF2, IL11, THPO
27gp 130449.9TNFRSF11A, TNFSF11, TNFRSF11B, IL11, THPO
281,25 dihydroxy vitamin d3449.7TNFRSF11A, TNFSF11, TNFRSF11B, BMP2, IL11, LRP5
29sb 20358044 5910.7TNFSF11, TNFRSF11B, FOSL1, BMP2, AIRE, THPO
30ascorbic acid44 2410.7TNFSF11, TNFRSF11B, FOSL1, BMP2, IGF2, SP7
31rapamycin449.7TNFSF11, BMP2, IGF2, IGFBP2, THPO
32serine449.7TNFRSF11A, TNFSF11, TNFRSF11B, FOSL1, CTSK, BMP2
33ly294002449.6TNFSF11, TNFRSF11B, IGF2, IGFBP2, THPO
34dihydrotestosterone44 28 11 2412.6IGFBP2, IGF2, BMP2, TNFRSF11B
35creatinine449.6PDLIM3, TNFSF11, TNFRSF11B, BMP2, IGF2, THPO
36hydroxyapatite449.5ALPL, IL11, BMP2, CTSK, TNFRSF11B, TNFSF11
37calcitriol44 59 11 2412.4TNFRSF11A, TNFSF11, TNFRSF11B, BMP2, IGF2, IGFBP2
38vitamin d449.4SOST, TNFSF11, TNFRSF11B, BMP2, IGF2, IL11
39testosterone44 59 11 2412.3TNFSF11, TNFRSF11B, BMP2, IGF2, IGFBP2, SLC22A8
40glucose449.3IGF2, IGFBP2, IL11, LRP5
41steroid449.2TNFSF11, TNFRSF11B, BMP2, IGF2, IGFBP2, IL11
42nitric oxide44 11 2411.2TNFRSF11A, TNFSF11, TNFRSF11B, FOSL1, BMP2, IL11
43oxygen44 2410.2TNFRSF11A, TNFSF11, CTSK, BMP2, IGFBP2, IL11
44cysteine449.2SOST, TNFSF11, TNFRSF11B, CTSK, BMP2, IGF2
45oligonucleotide449.2ALPL, THPO, IL11, IGFBP2, IGF2, BMP2
46phosphatidylinositol449.1TNFRSF11A, TNFSF11, TNFRSF11B, FOSL1, IGF2, IGFBP2
47vegf449.1TNFRSF11A, TNFSF11, TNFRSF11B, BMP2, IGF2, IGFBP2
48retinoic acid44 2410.0TNFRSF11B, FOSL1, CTSK, BMP2, IGF2, IGFBP2
49tyrosine448.6TNFRSF11A, TNFSF11, TNFRSF11B, FOSL1, CTSK, BMP2
50calcium44 49 11 2411.0FOSL1, TNFRSF11B, TNFSF11, TNFRSF11A, PDLIM3, SOST

GO Terms for genes affiliated with Osteosclerosis

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16Gene Ontology
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Cellular components related to Osteosclerosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055768.9TNFRSF11B, CTSK, BMP2, IGF2, IGFBP2, LTBP3
2extracellular spaceGO:0056158.2ALPL, SOST, TNFSF11, TNFRSF11B, CTSK, BMP2

Biological processes related to Osteosclerosis according to GeneCards/GeneDecks:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signalingGO:07184810.4TNFRSF11A, TNFSF11
2TNFSF11-mediated signaling pathwayGO:07184710.4TNFRSF11A, TNFSF11
3positive regulation of fever generation by positive regulation of prostaglandin secretionGO:07181210.3TNFRSF11A, TNFSF11
4positive regulation of bone resorptionGO:04578010.2LTBP3, TNFSF11
5bone remodelingGO:04684910.1LRP5, LTBP3
6positive regulation of activated T cell proliferationGO:04210410.0IGFBP2, IGF2
7skeletal system developmentGO:00150110.0TNFRSF11B, BMP2, IGF2, ALPL
8ossificationGO:00150310.0IGF2, TNFSF11, TNFRSF11A, SOST
9positive regulation of MAPK cascadeGO:04341010.0IL11, IGF2, BMP2
10mammary gland alveolus developmentGO:06074910.0TNFRSF11A, TNFSF11
11response to mechanical stimulusGO:00961210.0IGFBP2, FOSL1, SOST
12positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.9TNFRSF11A, TNFSF11, FOSL1
13extracellular matrix organizationGO:0301989.9TNFRSF11B, CTSK, BMP2, LTBP3
14monocyte chemotaxisGO:0025489.8TNFSF11, TNFRSF11A
15positive regulation of transcription from RNA polymerase II promoterGO:0459449.5TNFSF11, BMP2, AIRE, IL11, LRP5, SP7
16positive regulation of cell proliferationGO:0082849.5TNFRSF11A, FOSL1, IGF2, IL11, LRP5

Molecular functions related to Osteosclerosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1alkaline phosphatase activityGO:00403510.0ALPPL2, ALPL
2cytokine activityGO:0051259.4THPO, IL11, BMP2, TNFRSF11B, TNFSF11
3growth factor activityGO:0080839.4BMP2, IGF2, IL11, THPO

Products for genes affiliated with Osteosclerosis

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Sources for Osteosclerosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet