MCID: OST019
MIFTS: 52

Osteosclerosis malady

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

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Wikipedia:65 Osteosclerosis, an elevation in bone density, is normally detected on a radiograph as an area of... more...

MalaCards based summary: 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:46 144750

Aliases & Classifications for Osteosclerosis

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Sources:
8Disease Ontology, 46OMIM, 10DISEASES, 44Novoseek, 62UMLS, 34MeSH, 57SNOMED-CT, 39NCIt
See all sources

Osteosclerosis, Aliases & Descriptions:

Name: Osteosclerosis 8 46 10 44 62


Classifications:

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


External Ids:

Disease Ontology8 DOID:4254
MeSH34 D010026
SNOMED-CT57 49347007
NCIt39 C41236

Related Diseases for Osteosclerosis

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

(show top 50)    (show all 161)
idRelated DiseaseScoreTop Affiliating Genes
1myelofibrosis30.7THPO, TNFRSF11B
2hyperparathyroidism30.7TNFSF11, TNFRSF11B
3multiple myeloma30.5TNFRSF11B, TNFSF11
4myeloma30.5CTSK, TNFRSF11B, TNFSF11
5osteopetrosis30.2LRP5, TNFSF11, TNFRSF11B, CTSK
6beta thalassemia30.0TNFSF11, TNFRSF11B
7periodontitis29.9TNFRSF11B, TNFSF11
8arthritis29.9TNFSF11, TNFRSF11B, CTSK
9osteoporosis29.8CTSK, TNFRSF11B, TNFSF11, LRP5
10prostate cancer29.5TNFSF11, TNFRSF11B, CTSK
11rheumatoid arthritis29.4CTSK, TNFRSF11B, TNFSF11, THPO
12hepatitis10.5
13hepatitis c10.5
14periapical granuloma10.4TNFSF11
15leukemia10.4
16osteomesopyknosis10.3
17osteosclerosis with ichthyosis and premature ovarian failure10.3
18osteopoikilosis10.2
19achondroplasia10.2
20osteomyelitis10.2CTSK, TNFSF11
21giant cell tumor10.2TNFSF11, CTSK
22poems syndrome10.2
23primary hyperparathyroidism10.2
24craniofacial dysostosis with diaphyseal hyperplasia10.2
25hyperostosis corticalis generalisata, benign form of worth with torus palatinus10.2
26root resorption10.2TNFRSF11B, CTSK
27paget disease, juvenile10.1TNFSF11, TNFRSF11B
28polyostotic osteolytic dysplasia, hereditary expansile10.1TNFSF11, TNFRSF11B
29aortic valve stenosis10.1TNFSF11, TNFRSF11B
30gingivitis10.1TNFSF11, TNFRSF11B
31psoriatic arthritis10.1TNFSF11, TNFRSF11B
32ectodermal dysplasia10.1
33worth's syndrome10.1
34periostitis10.1
35prostatitis10.1
36mental retardation10.1
37osteosclerosis-developmental delay-craniosynostosis syndrome10.1
38ameloblastoma10.1TNFRSF11B, TNFSF11
39cholesteatoma10.1TNFRSF11B, TNFSF11
40ankylosing spondylitis10.1TNFSF11, TNFRSF11B
41bone cancer10.1TNFSF11, TNFRSF11B
42arthropathy10.1TNFRSF11B, TNFSF11
43rheumatic disease10.1TNFSF11, TNFRSF11B
44hypercalcemia10.1TNFSF11, TNFRSF11B
45synovitis10.1TNFRSF11B, TNFSF11
46periodontal disease10.0TNFSF11, TNFRSF11B
47gaucher's disease10.0
48werner syndrome10.0
49renal osteodystrophy10.0
50schnitzler syndrome10.0

Graphical network of the top 20 diseases related to Osteosclerosis:



Diseases related to osteosclerosis

Symptoms for Osteosclerosis

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Clinical features from OMIM:

144750

Drugs & Therapeutics for Osteosclerosis

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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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MalaCards organs/tissues related to Osteosclerosis:

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

Animal Models for Osteosclerosis or affiliated genes

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MGI Mouse Phenotypes related to Osteosclerosis:

36
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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Articles related to Osteosclerosis:

(show top 50)    (show all 245)
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
Histological evaluation of a tooth with hyperplastic pulpitis and periapical osteosclerosis. (9477826)
1997
23
Idiopathic osteosclerosis of the jaws: panoramic radiographic and computed tomographic findings. (9127388)
1997
24
Diffuse osteosclerosis in hairy cell leukemia. (2804348)
1989
25
Radiology clinic. Generalized osteosclerosis in an 83-year-old man with hip pain. (3230294)
1988
26
A case of IgD myeloma presenting as diffuse osteosclerosis. (3384980)
1988
27
Osteomesopyknosis: benign axial osteosclerosis. (3191321)
1988
28
Ectodermal dysplasia, osteosclerosis, atrial septal defect, malabsorption, neutropenia, growth, and mental retardation: the CA'tAc-Katsantoni syndrome? (3565486)
1987
29
Osteosclerosis in aged ICR mice. (4068440)
1985
30
Adult osteosclerosis. (6676625)
1983-1984
31
Osteosclerosis associated with urinary tract malignancy may not be dependent upon bone metastases. (7186224)
1983
32
Chronic myelocytic leukemia with marked myelofibrosis and osteosclerosis. (6578670)
1983
33
Osteosclerosis of the femoral head in long-term uraemic rabbits. (7124394)
1982
34
Hereditary hypophosphataemic rickets with autosomal recessive inheritance and severe osteosclerosis. A report of two cases. (681423)
1978
35
Focal osteosclerosis and apical periodontal pathoses in "European" and Cape coloured dental outpatients. (103854)
1978
36
Osteosclerosis in Netherton's disease. (578575)
1977
37
Childhood myelofibrosis and osteosclerosis without myeloid metaplasia. (4826622)
1974
38
Adaptation of hemopoietic tissue resulting from estrone-induced osteosclerosis in mice. (4816428)
1974
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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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:

6
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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Expression patterns in normal tissues for genes affiliated with Osteosclerosis

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Pathways for genes affiliated with Osteosclerosis

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Compounds for genes affiliated with Osteosclerosis

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Compounds related to Osteosclerosis according to GeneCards/GeneDecks:

(show top 50)    (show all 71)
idCompoundScoreTop Affiliating Genes
1strontium ranelate449.9CTSK, TNFSF11
2tartrate449.8CTSK, TNFSF11
3hcc-1449.8TNFRSF11B, TNFSF11
4denosumab44 1110.8TNFRSF11B, TNFSF11
5ibandronate44 1110.8TNFRSF11B, TNFSF11
6vitamin k2449.7TNFRSF11B, TNFSF11
7pamidronate44 50 1111.7TNFRSF11B, TNFSF11
8risedronate44 50 28 61 1113.7TNFSF11, TNFRSF11B
9clodronate44 50 1111.7TNFSF11, TNFRSF11B
10pmma449.7TNFRSF11B, TNFSF11
11geranylgeranyl pyrophosphate449.7TNFSF11, TNFRSF11B
12titanium449.7TNFRSF11B, TNFSF11
13deoxypyridinoline449.7TNFSF11, TNFRSF11B
14polymyxin b449.7TNFSF11, TNFRSF11B
15alendronate44 50 1111.7TNFSF11, TNFRSF11B
16ns 39844 6110.6TNFRSF11B, TNFSF11
1725-hydroxyvitamin d449.6TNFRSF11B, TNFSF11
183-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide449.6TNFRSF11B, TNFSF11
19phosphorus449.6TNFRSF11B, TNFSF11
20etanercept44 50 1111.6TNFRSF11B, TNFSF11
21raloxifene44 50 28 1112.5TNFSF11, TNFRSF11B
22infliximab44 50 1111.5TNFRSF11B, TNFSF11
23mevalonate449.4TNFRSF11B, TNFSF11
24dhea449.4TNFRSF11B, TNFSF11
25celecoxib44 61 28 50 24 1114.3TNFSF11, TNFRSF11B
261,25 dihydroxy vitamin d3449.3LRP5, TNFSF11, TNFRSF11B
27teriparatide44 1110.3CTSK, TNFRSF11B, TNFSF11
28zoledronic acid449.3TNFSF11, TNFRSF11B, CTSK
29hydroxyapatite449.3CTSK, TNFRSF11B, TNFSF11
30vitamin d449.3TNFRSF11B, TNFSF11, LRP5
31procollagen449.0TNFRSF11B, TNFSF11
32chondroitin sulfate44 2410.0THPO, TNFRSF11B, CTSK
33gp 130448.9TNFRSF11B, TNFSF11, THPO
34heparan sulfate44 249.9TNFRSF11B, TNFSF11, THPO
35bortezomib44 50 1110.9TNFRSF11B, THPO
36rantes448.9TNFRSF11B, TNFSF11, THPO
37indomethacin44 28 61 1111.9TNFRSF11B, TNFSF11, THPO
38sb 20358044 619.9TNFRSF11B, TNFSF11, THPO
39ly294002448.9TNFRSF11B, TNFSF11, THPO
40genistein44 28 61 2 24 1113.8TNFRSF11B, TNFSF11, THPO
41arachidonic acid44 28 24 1111.8TNFRSF11B, TNFSF11, THPO
42sodium44 249.8THPO, TNFSF11, TNFRSF11B
43creatinine448.7THPO, TNFSF11, TNFRSF11B
44heparin44 28 24 1111.7TNFRSF11B, TNFSF11, THPO
45steroid448.5TNFRSF11B, TNFSF11, THPO
46estrogen448.5THPO, LRP5, TNFSF11, TNFRSF11B
47polyethylene448.4CTSK, TNFRSF11B, TNFSF11, THPO
48cysteine448.4THPO, TNFSF11, TNFRSF11B, CTSK
49tyrosine448.2THPO, TNFSF11, TNFRSF11B, CTSK
50calcium44 50 24 1111.0THPO, LRP5, TNFSF11, TNFRSF11B, CTSK

GO Terms for genes affiliated with Osteosclerosis

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet