MCID: OST019
MIFTS: 48

Osteosclerosis malady

Summaries for Osteosclerosis

Sources:
8Disease Ontology, 64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Osteosclerosis, an elevation in bone density, is normally detected on a radiograph as an area of... more...

MalaCards: Osteosclerosis is related to osteopetrosis 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. 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:47 144750

Aliases & Classifications for Osteosclerosis

Sources:
8Disease Ontology, 47OMIM, 10DISEASES, 45Novoseek, 61UMLS, 40NCIt, 35MeSH, 57SNOMED-CT
See all sources

Aliases & Descriptions:

osteosclerosis 8 47 10 45 61


External Ids:

Disease Ontology8 DOID:4254
NCIt40 C41236
SNOMED-CT57 49347007
MeSH35 D010026

Related Diseases for Osteosclerosis

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the osteosclerosis with ichthyosis and premature ovarian failure family:

osteosclerosis

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

(show top 50)    (show all 196)
idRelated DiseaseScoreTop Affiliating Genes
1osteopetrosis30.5TNFSF11, TNFRSF11A, TNFRSF11B, CTSK, LRP5
2hepatitis c30.5THPO
3hepatitis b30.2ALPPL2, ALPL
4renal osteodystrophy30.1TNFRSF11B, ALPL, ALPPL2
5osteoporosis30.1ALPL, TNFRSF11B, ALPPL2, SP7, LRP5, IL11
6sost-related sclerosing bone dysplasia30.0LRP5, SOST
7arthritis29.9CTSK, TNFRSF11A, TNFSF11, ALPL, TNFRSF11B, ALPPL2
8mass syndrome29.7SOST, LRP5
9osteitis fibrosa29.7ALPL, PDLIM3, ALPPL2
10bone carcinoma29.7TNFRSF11A, BMP2, TNFRSF11B, TNFSF11
11megakaryocytic leukemia29.7IL11, THPO
12deficiency anemia29.7IL11, ALPPL2, ALPL, THPO
13hepatitis a10.3
14axial osteosclerosis10.3
15osteosclerosis with ichthyosis and premature ovarian failure10.2
16osteopoikilosis10.2
17primary hyperparathyroidism10.1
18poems syndrome10.1
19acute leukemia10.1
20hyperostosis corticalis generalisata, benign form of worth with torus palatinus10.1
21craniofacial dysostosis with diaphyseal hyperplasia10.1
22achondroplasia10.1
23hepatitis e10.1
24adult syndrome10.1
25n syndrome10.1
26osteopetrosis autosomal recessive 110.1
27raine syndrome10.1
28ectodermal dysplasia10.1
29mental retardation10.1
30hyperostosis, endosteal10.1
31osteosclerosis - developmental delay - craniosynostosis10.1
32camurati-engelmann disease10.0
33werner syndrome10.0
34melorheostosis10.0
35hepatitis d10.0
36worth's syndrome10.0
37craniometaphyseal dysplasia10.0
38systemic mastocytosis10.0
39osteopetrosis autosomal dominant type 210.0
40dysosteosclerosis10.0
41plasma cell leukemia10.0
42oto-palato-digital syndrome type 110.0
43osteopathia striata cranial sclerosis10.0
44osteosclerosis abnormalities of nervous system and meninges10.0
45melorheostosis with osteopoikilosis10.0
46periodontitis10.0TNFRSF11B
47blindness10.0LRP5
48polycythemia10.0THPO
49cystic fibrosis10.0TNFRSF11B
50primary hyperoxaluria10.0TNFRSF11B

Graphical network of the top 20 diseases related to Osteosclerosis:



Diseases related to osteosclerosis

Clinical Features for Osteosclerosis

Sources:
47OMIM
See all sources

Clinical features from OMIM:

144750

Drugs & Therapeutics for Osteosclerosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Anatomical Context for Osteosclerosis

Animal Models for Osteosclerosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Osteosclerosis

Sources:
51PubMed
See all sources

Articles related to Osteosclerosis:

(show top 50)    (show all 243)
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
Skeletal recovery from hepatitis C-associated osteosclerosis (HCAO) following antiviral treatment. (21498104)
2011
4
Trichothiodystrophy with dysmyelination and central osteosclerosis. (20075106)
2010
5
Doubly truncated FosB isoform (Delta2DeltaFosB) induces osteosclerosis in transgenic mice and modulates expression and phosphorylation of Smads in osteoblasts independent of intrinsic AP-1 activity. (18433296)
2008
6
A case of hepatitis C-associated osteosclerosis in an elderly Japanese man. (16717394)
2006
7
DeltaFosB induces osteosclerosis and decreases adipogenesis by two independent cell-autonomous mechanisms. (15024071)
2004
8
Generalized osteosclerosis in a cat. (15373257)
2004
9
Bone densitometry of a patient with osteosclerosis. (12665704)
2003
10
Autosomal dominant hyperostosis/osteosclerosis with high serum alkaline phosphatase activity. (12788869)
2003
11
Clinical images: Hepatitis C-associated osteosclerosis. (12528129)
2003
12
Idiopathic osteosclerosis of the jaws followed through a period of 20-27 years. (12449025)
2002
13
Differential diagnosis and treatment of autosomal dominant osteosclerosis of the mandible. (11883972)
2002
14
Osteosclerosis and periostal new bone formation during indinavir therapy. (11964544)
2002
15
Testing your diagnostic skills (#54). Case no. 2. Focal idiopathic osteosclerosis condensing osteitis. (11799659)
2001
16
Sarcoidosis presenting with large vessel vasculitis and osteosclerosis-related bone and joint pain. (10895383)
2000
17
Case 14: intramedullary osteosclerosis. (10478236)
1999
18
Autosomal dominant osteosclerosis: report of a kindred. (10348520)
1999
19
Severe, diffuse osteosclerosis: A new manifestation of transitional cell carcinoma of the urinary bladder. (9817940)
1998
20
A longitudinal study of idiopathic osteosclerosis and condensing osteitis. (9879216)
1998
21
Insulin-like growth factor system abnormalities in hepatitis C-associated osteosclerosis. Potential insights into increasing bone mass in adults. (9593772)
1998
22
Hepatitis C-associated osteosclerosis: an unusual syndrome of acquired osteosclerosis in adults. (9236489)
1997
23
Regression of diffuse osteosclerosis in hairy cell leukaemia after treatment with interferon. (2223637)
1990
24
Diffuse osteosclerosis in hairy cell leukemia. (2804348)
1989
25
Evidence for an osteoblast-activating factor in a patient with peripheral T-cell lymphoma and osteosclerosis. (2787445)
1989
26
Central osteosclerosis with ectodermal dysplasia: clinical, laboratory, radiologic, and histopathologic characterization with review of the literature. (2692405)
1989
27
A case of IgD myeloma presenting as diffuse osteosclerosis. (3384980)
1988
28
Acute monoblastic leukemia with osteosclerosis and extensive myelofibrosis. (3239709)
1988
29
Osteosclerosis, a recessive skeletal mutation on chromosome 19 in the mouse. (3998439)
1985
30
Adult osteosclerosis. (6676625)
1983-1984
31
Hemifacial osteosclerosis: report of a case. (6580667)
1983
32
Qualitative bone defect in uremic osteosclerosis. (7098850)
1982
33
Osteosclerosis and ectodermal dysplasia. (7163261)
1982
34
Role of calcitonin in osteosclerosis of myeloma? (7436658)
1980
35
Osteosclerosis (punctate form) in multiple myeloma. (424801)
1979
36
Osteosclerosis in renal tubular acidosis: a case report. (617605)
1977
37
Osteosclerosis in myeloma. (4729029)
1973
38
Osteosclerosis in hyperparathyroidism. (4562552)
1972
39
An unusual case of periosteal deformity of the cranium and some of the skeletal bones. (Periostoso-osteosclerosis). (5493783)
1970
40
Renal osteodystrophy and osteosclerosis secondary to vitamin D therapy. (6061353)
1967
41
Fluoride osteosclerosis simulating carcinoma of the prostate with widespread bony metastasis: a case report. (5956782)
1966
42
MYELOMATOUS OSTEOSCLEROSIS AND PERIPHERAL NEUROPATHY. (14272690)
1965
43
OSTEOSCLEROSIS OF RENAL DISEASE IN CHILDREN. COMPARATIVE PATHOLOGIC AND RADIOGRAPHIC STUDIES. (14103197)
1964
44
OSTEOSCLEROSIS IN MYELOMATOSIS. (14229694)
1964
45
Osteosclerosis in chronic renal disease. Report of 4 cases associated with secondary hyperparathyroidism. (14003699)
1962
46
Chronic Milk-alkali Syndrome with Generalized Osteosclerosis after Prolonged Excessive Intake of "Rennie's" Tablets. (20788858)
1960
47
Bone disease in chronic renal failure with particular reference to osteosclerosis. (14405017)
1960
48
Developmental affections of the skeleton characterized by osteosclerosis. (13447240)
1957
49
Generalized retardation, with renal impairment, hypercalcaemia and osteosclerosis of skull. (14844215)
1951
50
Aleukemic Myelosis: Chronic Nonleukemic Myelosis, Agnogenic Myeloid Metaplasia, Osteosclerosis, Leuko-Erythroblastic Anemia, and Synonymous Designations. (19970934)
1947

Genetic Variations for Osteosclerosis

Expression for genes affiliated with Osteosclerosis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 30KEGG, 52QIAGEN, 12EMD Millipore
See all sources

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
Hide members
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

Sources:
45Novoseek, 11DrugBank, 24HMDB, 60Tocris Bioscience, 29IUPHAR, 50PharmGKB, 2BitterDB
See all sources

Compounds related to Osteosclerosis according to GeneCards/GeneDecks:

(show top 50)    (show all 75)
idCompoundScoreTop Affiliating Genes
1estrogen4510.8THPO
2procollagen4510.6TNFSF11
3cycloheximide4510.4IGFBP2
4hcc-14510.4TNFSF11, TNFRSF11B
5teriparatide45 1111.4CTSK, TNFSF11, TNFRSF11B
6estradiol45 11 2412.3IGF2, SLC22A8
7indomethacin45 60 29 1113.3BMP2, IGF2, SLC22A8
8zoledronic acid4510.3BMP2, CTSK, TNFRSF11B, TNFSF11
9geranylgeranyl pyrophosphate4510.2TNFSF11, BMP2, TNFRSF11B
10forskolin45 50 1112.2IL11, IGFBP2
11alizarin4510.2SP7, BMP2, ALPL
12denosumab45 1111.2SOST, TNFRSF11A, TNFSF11, TNFRSF11B
13titanium4510.1TNFRSF11B, IL11, TNFSF11, BMP2
14raloxifene45 29 50 1113.1TNFSF11, TNFRSF11B, BMP2, TNFRSF11A
15polyethylene4510.1TNFRSF11B, TNFRSF11A, THPO, CTSK, TNFSF11
16alendronate45 50 1112.1BMP2, TNFSF11, IL11, TNFRSF11B
17dexamethasone45 50 29 1113.0SP7, BMP2, TNFRSF11B, TNFSF11, IGF2
18dhea4510.0IGF2, TNFRSF11B, IGFBP2, TNFSF11
19methylcellulose4510.0IL11, THPO, IGF2, BMP2
20deoxypyridinoline4510.0IL11, IGFBP2, TNFRSF11B, TNFSF11
21polyethylene glycol459.9THPO, IL11, IGF2, BMP2
22p002459.9TNFRSF11B, IGFBP2, THPO, IGF2
23amifostine45 1110.9ALPPL2, IL11, THPO, ALPL
24azathioprine45 50 2 1112.9IL11, TNFSF11, BMP2, TNFRSF11B, IGF2
25heparin45 29 11 2412.9TNFSF11, THPO, IL11, BMP2, TNFRSF11B
26tgf beta1459.9THPO, IL11, BMP2, TNFRSF11B, IGF2
27gp 130459.9TNFRSF11A, TNFSF11, TNFRSF11B, IL11, THPO
281,25 dihydroxy vitamin d3459.7TNFRSF11B, LRP5, IL11, TNFRSF11A, TNFSF11, BMP2
29sb 20358045 6010.7FOSL1, BMP2, AIRE, TNFRSF11B, TNFSF11, THPO
30ascorbic acid45 2410.7TNFRSF11B, TNFSF11, FOSL1, BMP2, IGF2, SP7
31rapamycin459.7TNFSF11, IGF2, BMP2, IGFBP2, THPO
32serine459.7TNFRSF11A, FOSL1, CTSK, BMP2, TNFRSF11B, TNFSF11
33ly294002459.6IGF2, IGFBP2, THPO, TNFRSF11B, TNFSF11
34dihydrotestosterone45 29 11 2412.6IGFBP2, TNFRSF11B, IGF2, BMP2
35creatinine459.6IGF2, PDLIM3, TNFSF11, TNFRSF11B, BMP2, SLC22A8
36hydroxyapatite459.5TNFRSF11B, BMP2, TNFRSF11A, TNFSF11, CTSK, IL11
37calcitriol45 60 11 2412.4TNFRSF11A, IGFBP2, TNFRSF11B, BMP2, IGF2, IL11
38vitamin d459.4TNFRSF11B, IGF2, IL11, LRP5, ALPL, TNFSF11
39testosterone45 60 11 2412.3IGF2, IGFBP2, SLC22A8, TNFRSF11B, BMP2, TNFSF11
40glucose459.3IL11, IGFBP2, IGF2, LRP5
41steroid459.2THPO, SLC22A8, TNFSF11, TNFRSF11B, BMP2, IGF2
42nitric oxide45 11 2411.2TNFRSF11A, THPO, TNFSF11, TNFRSF11B, FOSL1, IL11
43oxygen45 2410.2TNFRSF11A, CTSK, TNFSF11, IL11, IGFBP2, BMP2
44cysteine459.2TNFRSF11B, CTSK, IGF2, IL11, THPO, BMP2
45oligonucleotide459.2ALPL, THPO, IL11, BMP2, IGFBP2, IGF2
46phosphatidylinositol459.1THPO, TNFRSF11A, TNFSF11, TNFRSF11B, FOSL1, IGF2
47vegf459.1IGF2, IGFBP2, SP7, TNFRSF11B, TNFSF11, TNFRSF11A
48retinoic acid45 2410.0ALPL, TNFRSF11B, FOSL1, IL11, IGFBP2, THPO
49tyrosine458.6CTSK, TNFRSF11B, TNFSF11, IL11, AIRE, THPO
50calcium45 50 11 2411.0PDLIM3, SP7, BMP2, THPO, IGFBP2, LRP5

GO Terms for genes affiliated with Osteosclerosis

Sources:
16Gene Ontology
See all sources

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

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet