MCID: OST019
MIFTS: 51

Osteosclerosis malady

Genetic diseases (common), Bone diseases categories
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Summaries for Osteosclerosis

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8Disease Ontology, 65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 Osteosclerosis, an elevation in bone density, is normally detected on a radiograph as an area of... more...

MalaCards: Osteosclerosis is related to myelofibrosis and hyperparathyroidism. An important gene associated with Osteosclerosis is LRP5 (low density lipoprotein receptor-related protein 5), and among its related pathways are Rheumatoid arthritis and TNF Signaling. The compounds strontium ranelate and tartrate 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 growth/size/body.

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

Description from OMIM:47 144750

Aliases & Classifications for Osteosclerosis

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8Disease Ontology, 47OMIM, 10DISEASES, 45Novoseek, 62UMLS, 58SNOMED-CT, 35MeSH, 40NCIt
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Classifications:

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


Aliases & Descriptions:

osteosclerosis 8 47 10 45 62


External Ids:

Disease Ontology8 DOID:4254
MeSH35 D010026
SNOMED-CT58 49347007
NCIt40 C41236

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 159)
idRelated DiseaseScoreTop Affiliating Genes
1myelofibrosis30.7THPO, TNFRSF11B
2hyperparathyroidism30.6TNFSF11, TNFRSF11B
3osteopetrosis30.5LRP5, TNFSF11, TNFRSF11B, CTSK
4myeloma30.5CTSK, TNFRSF11B, TNFSF11
5multiple myeloma30.4TNFRSF11B, TNFSF11
6osteoporosis30.0CTSK, TNFRSF11B, TNFSF11, LRP5
7arthritis30.0TNFSF11, TNFRSF11B, CTSK
8rheumatoid arthritis29.9CTSK, TNFRSF11B, TNFSF11, THPO
9beta thalassemia29.8TNFSF11, TNFRSF11B
10periodontitis29.8TNFRSF11B, TNFSF11
11prostate cancer29.7TNFSF11, TNFRSF11B, CTSK
12hepatitis10.5
13hepatitis c10.5
14leukemia10.4
15axial osteosclerosis10.3
16osteosclerosis with ichthyosis and premature ovarian failure10.3
17osteopoikilosis10.2
18primary hyperparathyroidism10.2
19poems syndrome10.2
20prostatitis10.2
21craniofacial dysostosis with diaphyseal hyperplasia10.2
22hyperostosis corticalis generalisata, benign form of worth with torus palatinus10.2
23achondroplasia10.1
24periostitis10.1
25ectodermal dysplasia10.1
26raine syndrome10.1
27mental retardation10.1
28osteosclerosis-developmental delay-craniosynostosis syndrome10.1
29periapical granuloma10.1TNFSF11
30osteomyelitis10.0CTSK, TNFSF11
31giant cell tumor10.0TNFSF11, CTSK
32root resorption10.0TNFRSF11B, CTSK
33paget disease, juvenile10.0TNFSF11, TNFRSF11B
34polyostotic osteolytic dysplasia, hereditary expansile10.0TNFSF11, TNFRSF11B
35aortic valve stenosis10.0TNFSF11, TNFRSF11B
36gingivitis10.0TNFSF11, TNFRSF11B
37psoriatic arthritis10.0TNFSF11, TNFRSF11B
38adenoameloblastoma10.0TNFRSF11B, TNFSF11
39cholesteatoma10.0TNFRSF11B, TNFSF11
40ankylosing spondylitis10.0TNFSF11, TNFRSF11B
41bone carcinoma10.0TNFSF11, TNFRSF11B
42arthropathy10.0TNFRSF11B, TNFSF11
43rheumatic disease10.0TNFSF11, TNFRSF11B
44hypercalcemia10.0TNFSF11, TNFRSF11B
45melorheostosis10.0
46camurati-engelmann disease10.0
47werner syndrome10.0
48craniometaphyseal dysplasia10.0
49sost-related sclerosing bone dysplasia10.0
50worth's syndrome10.0

Graphical network of the top 20 diseases related to Osteosclerosis:



Diseases related to osteosclerosis

Symptoms for Osteosclerosis

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Sources:
47OMIM
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Clinical features from OMIM:

144750

Drugs & Therapeutics for Osteosclerosis

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Osteosclerosis

Search NIH Clinical Center for Osteosclerosis

Genetic Tests for Osteosclerosis

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Anatomical Context for Osteosclerosis

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Sources:
33MalaCards
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MalaCards organs/tissues related to Osteosclerosis:

33
Bone, Bone marrow, Prostate, Myeloid, Brain, Cerebellum, Spleen, Testes, T cells, Endothelial

Animal Models for Osteosclerosis or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Osteosclerosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053718.5CTSK, TNFRSF11B, TNFSF11, LRP5
2MP:00053788.4CTSK, TNFRSF11B, TNFSF11, LRP5
3MP:00053828.3CTSK, TNFRSF11B, TNFSF11, LRP5
4MP:00053908.1LRP5, TNFSF11, TNFRSF11B, CTSK
5MP:00053977.6THPO, LRP5, TNFSF11, TNFRSF11B, CTSK
6MP:00053877.5THPO, LRP5, TNFSF11, TNFRSF11B, CTSK

Publications for Osteosclerosis

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Sources:
52PubMed
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Articles related to Osteosclerosis:

(show top 50)    (show all 241)
idTitleAuthorsYear
1
The A242T mutation in the low-density lipoprotein receptor-related protein 5 gene in one Chinese family with osteosclerosis. (23318847)
2013
2
Diffuse osteosclerosis-associated acute myeloid leukemia. (22124108)
2012
3
The prevalence of idiopathic osteosclerosis and condensing osteitis in Zagreb population. (23540165)
2012
4
Worth syndrome as a diagnosis for mandibular osteosclerosis. (22065804)
2011
5
Quantification of fibrosis and osteosclerosis in myeloproliferative neoplasms: a computer-assisted image study. (20122729)
2010
6
The frequency and characteristics of idiopathic osteosclerosis and condensing osteitis lesions in a Turkish patient population. (19680185)
2009
7
Unusual presentation of idiopathic osteosclerosis: a case report. (18348378)
2008
8
VEGF and osteosclerosis in POEMS syndrome. (18172647)
2008
9
Bisphosphonate-induced osteopetrosis: novel bone modeling defects, metaphyseal osteopenia, and osteosclerosis fractures after drug exposure ceases. (18505375)
2008
10
A case of hepatitis C-associated osteosclerosis in an elderly Japanese man. (16717394)
2006
11
Serum soluble factors induce the proliferation, alkaline phosphatase activity and transforming growth factor-beta signal in osteoblastic cells in the patient with hepatitis C-associated osteosclerosis. (17177144)
2006
12
Regression of myelofibrosis and osteosclerosis following hematopoietic cell transplantation assessed by magnetic resonance imaging and histologic grading. (17162210)
2006
13
Idiopathic osteosclerosis of the jaws followed through a period of 20-27 years. (12449025)
2002
14
Syndrome of myelofibrosis and osteosclerosis: a series of case reports and review of the literature. (11882464)
2002
15
Sarcoidosis presenting with large vessel vasculitis and osteosclerosis-related bone and joint pain. (10895383)
2000
16
A novel putative transporter maps to the osteosclerosis (oc) mutation and is not expressed in the oc mutant mouse. (10087192)
1999
17
Onset and dynamics of osteosclerosis in mice induced by Reilly-Finkel-Biskis (RFB) murine leukemia virus. Increase in bone mass precedes lymphomagenesis. (10433948)
1999
18
Severe, diffuse osteosclerosis: A new manifestation of transitional cell carcinoma of the urinary bladder. (9817940)
1998
19
Hepatitis C-associated osteosclerosis: late onset after blood transfusion in an elderly woman. (9435422)
1998
20
A longitudinal study of idiopathic osteosclerosis and condensing osteitis. (9879216)
1998
21
Osteosclerosis is Also Around. (19078125)
1997
22
Idiopathic osteosclerosis of the jaws: panoramic radiographic and computed tomographic findings. (9127388)
1997
23
Radiology clinic. Generalized osteosclerosis in an 83-year-old man with hip pain. (3230294)
1988
24
A case of IgD myeloma presenting as diffuse osteosclerosis. (3384980)
1988
25
Osteomesopyknosis: benign axial osteosclerosis. (3191321)
1988
26
Ectodermal dysplasia, osteosclerosis, atrial septal defect, malabsorption, neutropenia, growth, and mental retardation: the CA'tAc-Katsantoni syndrome? (3565486)
1987
27
Osteosclerosis in aged ICR mice. (4068440)
1985
28
Adult osteosclerosis. (6676625)
1983-1984
29
Osteosclerosis associated with urinary tract malignancy may not be dependent upon bone metastases. (7186224)
1983
30
Chronic myelocytic leukemia with marked myelofibrosis and osteosclerosis. (6578670)
1983
31
Osteosclerosis of the femoral head in long-term uraemic rabbits. (7124394)
1982
32
Hereditary hypophosphataemic rickets with autosomal recessive inheritance and severe osteosclerosis. A report of two cases. (681423)
1978
33
Focal osteosclerosis and apical periodontal pathoses in "European" and Cape coloured dental outpatients. (103854)
1978
34
Osteosclerosis in Netherton's disease. (578575)
1977
35
Osteosclerosis in primary hyperparathyroidism. (1138542)
1975
36
Childhood myelofibrosis and osteosclerosis without myeloid metaplasia. (4826622)
1974
37
Adaptation of hemopoietic tissue resulting from estrone-induced osteosclerosis in mice. (4816428)
1974
38
Fluoride osteosclerosis simulating carcinoma of the prostate with widespread bony metastasis: a case report. (5956782)
1966
39
OSTEOPETROSIS (ALBERS-SCHOENBERG DISEASE, MARBLE BONES, OSTEOSCLEROSIS FRAGILIS GENERALISATA). (14342919)
1965
40
OSTEOSCLEROSIS OCCURRING IN RENAL DISEASE. (14268340)
1965
41
OSTEOSCLEROSIS OF RENAL DISEASE IN CHILDREN. COMPARATIVE PATHOLOGIC AND RADIOGRAPHIC STUDIES. (14103197)
1964
42
MARBLE BONE DISEASE. (OSTEOPETROSIS, OSTEOSCLEROSIS FRAGILIS GENERALISATA ALBERS-SCHOENBERG DISEASE, OSTEOSCLEROSIS CONGENITA DIFFUSA). CASE REPORT WITH A REVIEW OF THE LITERATURE. (14162132)
1964
43
Osteosclerosis in chronic renal disease. Report of 4 cases associated with secondary hyperparathyroidism. (14003699)
1962
44
Roentgenologic findings in fluoride osteosclerosis. Summary of a report. (13834549)
1960
45
Osteosclerosis:a roentgenographic differential diagnosis of residual root tip and osteosclerosis. (13462691)
1957
46
Hypertrophic osteosclerosis (bony spur) of the lumbar spine; producing the syndrome of protruded intervertebral disc with sciatic pain. (13416943)
1957
47
Monomelic medullary osteosclerosis; case report. (13190317)
1954
48
Spleen aspiration in osteosclerosis and splenic hematopoiesis; rationale of splenectomy. (14902310)
1951
49
Aleukemic Myelosis: Chronic Nonleukemic Myelosis, Agnogenic Myeloid Metaplasia, Osteosclerosis, Leuko-Erythroblastic Anemia, and Synonymous Designations. (19970934)
1947
50
Disseminated reticuloendothelial tumor of the bone marrow with nodular osteosclerosis. (20999920)
1946

Variations for Osteosclerosis

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Osteosclerosis:

64
id Symbol AA change Variation ID SNP ID
1LRP5p.Ala214ThrVAR_021810
2LRP5p.Ala214ValVAR_021811
3LRP5p.Ala242ThrVAR_021812

Clinvar genetic disease variations for Osteosclerosis:

1
id Gene Name Type Significance SNP ID Assembly Location
1LRP5NM_002335.3(LRP5): c.724G> A (p.Ala242Thr)single nucleotide variantPathogenicrs121908670GRCh37Chr 11, 68131252: 68131252
2LRP5NM_002335.3(LRP5): c.640G> A (p.Ala214Thr)single nucleotide variantPathogenicrs121908671GRCh37Chr 11, 68125269: 68125269
3LRP5NM_002335.3(LRP5): c.641C> T (p.Ala214Val)single nucleotide variantPathogenicrs121908672GRCh37Chr 11, 68125270: 68125270

Expression for genes affiliated with Osteosclerosis

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2BioGPS, 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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50PathCards, 30KEGG, 57SinoBiological, 54R&D Systems, 60Thomson Reuters, 53QIAGEN, 38NCBI BioSystems Database, 55Reactome
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Compounds for genes affiliated with Osteosclerosis

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45Novoseek, 11DrugBank, 51PharmGKB, 29IUPHAR, 61Tocris Bioscience, 24HMDB, 3BitterDB
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Compounds related to Osteosclerosis according to GeneCards/GeneDecks:

(show top 50)    (show all 71)
idCompoundScoreTop Affiliating Genes
1strontium ranelate459.9CTSK, TNFSF11
2tartrate459.8CTSK, TNFSF11
3hcc-1459.8TNFRSF11B, TNFSF11
4denosumab45 1110.8TNFRSF11B, TNFSF11
5ibandronate45 1110.8TNFRSF11B, TNFSF11
6vitamin k2459.7TNFRSF11B, TNFSF11
7pamidronate45 51 1111.7TNFRSF11B, TNFSF11
8risedronate45 51 29 61 1113.7TNFSF11, TNFRSF11B
9clodronate45 51 1111.7TNFSF11, TNFRSF11B
10pmma459.7TNFRSF11B, TNFSF11
11geranylgeranyl pyrophosphate459.7TNFSF11, TNFRSF11B
12titanium459.7TNFRSF11B, TNFSF11
13deoxypyridinoline459.7TNFSF11, TNFRSF11B
14polymyxin b459.7TNFSF11, TNFRSF11B
15alendronate45 51 1111.7TNFSF11, TNFRSF11B
16ns 39845 6110.6TNFRSF11B, TNFSF11
1725-hydroxyvitamin d459.6TNFRSF11B, TNFSF11
183-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide459.6TNFRSF11B, TNFSF11
19phosphorus459.6TNFRSF11B, TNFSF11
20etanercept45 51 1111.6TNFRSF11B, TNFSF11
21raloxifene45 51 29 1112.5TNFSF11, TNFRSF11B
22infliximab45 51 1111.5TNFRSF11B, TNFSF11
23mevalonate459.4TNFRSF11B, TNFSF11
24dhea459.4TNFRSF11B, TNFSF11
25celecoxib45 61 29 51 24 1114.3TNFSF11, TNFRSF11B
261,25 dihydroxy vitamin d3459.3LRP5, TNFSF11, TNFRSF11B
27teriparatide45 1110.3CTSK, TNFRSF11B, TNFSF11
28zoledronic acid459.3TNFSF11, TNFRSF11B, CTSK
29hydroxyapatite459.3CTSK, TNFRSF11B, TNFSF11
30vitamin d459.3TNFRSF11B, TNFSF11, LRP5
31procollagen459.0TNFRSF11B, TNFSF11
32chondroitin sulfate45 2410.0THPO, TNFRSF11B, CTSK
33gp 130458.9TNFRSF11B, TNFSF11, THPO
34heparan sulfate45 249.9TNFRSF11B, TNFSF11, THPO
35bortezomib45 51 1110.9TNFRSF11B, THPO
36rantes458.9TNFRSF11B, TNFSF11, THPO
37indomethacin45 29 61 1111.9TNFRSF11B, TNFSF11, THPO
38sb 20358045 619.9TNFRSF11B, TNFSF11, THPO
39ly294002458.9TNFRSF11B, TNFSF11, THPO
40genistein45 29 61 3 24 1113.8TNFRSF11B, TNFSF11, THPO
41arachidonic acid45 29 24 1111.8TNFRSF11B, TNFSF11, THPO
42sodium45 249.8THPO, TNFSF11, TNFRSF11B
43creatinine458.7THPO, TNFSF11, TNFRSF11B
44heparin45 29 24 1111.7TNFRSF11B, TNFSF11, THPO
45steroid458.5TNFRSF11B, TNFSF11, THPO
46estrogen458.5THPO, LRP5, TNFSF11, TNFRSF11B
47polyethylene458.4CTSK, TNFRSF11B, TNFSF11, THPO
48cysteine458.4THPO, TNFSF11, TNFRSF11B, CTSK
49tyrosine458.2THPO, TNFSF11, TNFRSF11B, CTSK
50calcium45 51 24 1111.0THPO, LRP5, TNFSF11, TNFRSF11B, CTSK

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 spaceGO:0056158.0CTSK, TNFRSF11B, TNFSF11, THPO

Biological processes related to Osteosclerosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of sequence-specific DNA binding transcription factor activityGO:0510919.5TNFSF11, LRP5
2bone resorptionGO:0454539.3CTSK, TNFSF11
3positive regulation of protein kinase B signalingGO:0518978.8TNFSF11, THPO

Molecular functions related to Osteosclerosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:0051258.5TNFRSF11B, TNFSF11, THPO

Products for genes affiliated with Osteosclerosis

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  • Antibodies
  • Proteins
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Sources for Osteosclerosis

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet