Summaries for Hyperostosis

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6Disease Ontology, 44Wikipedia, 22MalaCards
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Wikipedia: Hyperostosis is an excessive growth of bone. It may lead to exostosis. It occurs in many musculoskeletal...44 more...

MalaCards: Hyperostosis, also known as hypertrophy of bone (morphologic abnormality), is related to sost-related sclerosing bone dysplasia and calvarial hyperostosis. An important gene associated with Hyperostosis is COX4I2 (cytochrome c oxidase subunit IV isoform 2 (lung)), and among its related pathways are PTEN Pathway and FAK1 Signaling. The compounds glucose and bleomycin have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are endocrine/exocrine gland and respiratory system.

Disease Ontology: A bone remodeling disease that results in an abnormal growth of located in bone.6

Aliases & Descriptions for Hyperostosis

Sources:
6Disease Ontology, 7diseasecard, 8DISEASES, 32Novoseek , 43UMLS, 40SNOMED-CT, 24MeSH, 27NCIt
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Aliases & Descriptions:

hyperostosis 6 7 8 32 43
hypertrophy of bone (morphologic abnormality) 6
hypertrophy of bone (disorder) 6
hypertrophy of bone 6
bone hypertrophy 6
hypertrophy 43

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Related Diseases for Hyperostosis

Sources:
13GeneCards, 14GeneDecks
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Diseases related to hyperostosis by text searches and GeneDecks gene sharing:

(show top 50)    (show all 348)
idRelated DiseaseScoreTop Affiliating Genes
1sost-related sclerosing bone dysplasia31.5KREMEN1, SOST
2calvarial hyperostosis31.3COX4I2, COX4I1
3diffuse idiopathic skeletal hyperostosis31.1RBP4, IGFBP3, IGF1, HLA-B, TMTC1, CYP26C1
4hypertrophic cardiomyopathy30.9IGFBP3, IGF1, HLA-B, COL1A1, TGFB1
5hypertension30.5LRP5, KL, RBP4, BGLAP, CFI, IGFBP3
6familial tumoral calcinosis30.0KL, FGF23, GALNT3
7calcinosis28.4KL, FGF23, ALPL, PTH, SPP1, GALNT3
8hyperphosphatemic familial tumoral calcinosis28.2FGF23, GALNT3
9aldosteronism28.0KL, FGF23, IGF1, HLA-B, SPP1, COL1A1
10camurati-engelmann disease27.9LRP5, BGLAP, TGFB1
11hyperphosphatemia27.5KL, BGLAP, FGF23, ALPL, TNFRSF11B, PTH
12rabson-mendenhall syndrome26.8IGFBP3, IGF1
13acromegaly26.7RBP4, BGLAP, CFI, IGFBP3, IGF1, PTH
14peritonitis26.6RBP4, BGLAP, CFI, FGF23, IGF1, TNFRSF11B
15prostatitis26.6LRP5, KL, RBP4, BGLAP, CFI, FLNA
16fibrosis26.5KL, RBP4, BGLAP, FLNA, IGFBP3, IGF1
17insulin resistance26.3RBP4, BGLAP, CFI, IGFBP3, IGF1, TNFRSF11B
18nephropathy25.9RBP4, FGF23, IGFBP3, IGF1, HLA-B, TNFRSF11B
19osteosclerosis25.8LRP5, BGLAP, ALPL, TNFRSF11B, PTH, SOST
20prostate disease25.7IGFBP3, IGF1, TGFB1
21prostate carcinoma25.6BGLAP, IGFBP3, IGF1, TNFRSF11B, SPP1, TGFB1
22hydrocephalus25.5FLNA, IGFBP3, IGF1, TGFB1
23muscular dystrophy25.5FLNA, IGF1, HLA-B, SPP1, COL6A1, TGFB1
24type 2 diabetes mellitus25.4LRP5, RBP4, BGLAP, IGFBP3, IGF1, SPP1
25obesity25.4LRP5, RBP4, BGLAP, IGFBP3, IGF1, ALPL
26was-related disorders24.9KL, FLNA, IGF1, HLA-B, COL1A1, COL6A1
27gingivitis24.8BGLAP, IGFBP3, ALPL, TNFRSF11B, SPP1, COL1A1
28blindness24.6LRP5, RBP4, BGLAP, FGF23, IGFBP3, IGF1
29pulmonary disease24.6LRP5, RBP4, BGLAP, IGFBP3, IGF1, PTH
30hypoxia24.6LRP5, BGLAP, CFI, IGFBP3, IGF1, SPP1
31thyroiditis24.5RBP4, BGLAP, IGFBP3, IGF1, ALPL, HLA-B
32anemia24.1CFI, IGFBP3, IGF1, ALPL, HLA-B, PTH
33glomerulonephritis24.0RBP4, BGLAP, CFI, TNFRSF11B, SPP1, TGFB1
34hyperglycemia23.9BGLAP, IGFBP3, IGF1, SPP1, TGFB1
35myopathy23.8IGFBP3, IGF1, ALPL, HLA-B, COL6A1, TGFB1
36adenoma23.8BGLAP, IGFBP3, IGF1, ALPL, HLA-B, PTH
37copd23.6BGLAP, IGF1, HLA-B, TNFRSF11B, TGFB1
38twinning23.6RBP4, BGLAP, IGFBP3, IGF1, TNFRSF11B, COL10A1
39atherosclerosis23.5LRP5, KL, RBP4, BGLAP, FGF23, IGFBP3
40diabetes mellitus22.9LRP5, RBP4, BGLAP, FGF23, IGFBP3, IGF1
41osteoarthritis22.4LRP5, KL, BGLAP, GTDC2, IGFBP3, IGF1
42periodontitis22.3BGLAP, IGF1, ALPL, HLA-B, TNFRSF11B, SPP1
43cholesterol22.3LRP4, LRP5, KL, RBP4, BGLAP, CFI
44carcinoma22.1LRP5, KL, RBP4, BGLAP, CFI, FLNA
45adenocarcinoma21.4RBP4, BGLAP, GTDC2, IGFBP3, IGF1, ALPL
46alzheimer's disease21.1RBP4, BGLAP, CFI, FLNA, GTDC2, IGFBP3
47hepatitis21.0RBP4, BGLAP, CFI, FLNA, FGF23, IGFBP3
48pancreatitis20.5LRP5, KL, RBP4, BGLAP, FLNA, IGFBP3
49arthritis20.4LRP5, KL, BGLAP, CFI, IGFBP3, IGF1
50mass syndrome13.6LRP5, SOST

Graphical network of the top 20 diseases related to hyperostosis:



Graphical network of diseases related to hyperostosis

Clinical Features for Hyperostosis

Drugs & Therapeutics for Hyperostosis

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Hyperostosis

Anatomical Context for Hyperostosis

Sources:
11FMA
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FMA organs/tissues related to hyperostosis:

11
Bone

Phenotypes for genes affiliated with Hyperostosis

Sources:
25MGI
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Publications for genes affiliated with Hyperostosis

Sources:
35PubMed
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Articles related to hyperostosis:

(show all 19)
idTitleAuthorsYearAffiliating Genes
1Familial tumoral calcinosis and hyperostosis-hyperpho sphataemia syndrome are different manifestations of the same disease: novel mis sense mutations in GALNT3. (19830424)Joseph L.... Delaney D.2010GALNT3
2Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome. (19297793)Gok F.... Sprecher E.2009GALNT3
3Evidence of enhanced expression of osteopontin in spi nal hyperostosis of the twy mouse. (19770606)Aiba A.... Yamazaki M.2009SPP1, COL10A1
4Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene. (19268275)Shteyer E.... Elpeleg O.2009COX4I1, COX4I2
5Impaired insulin secretion and uptake in patients wit h diffuse idiopathic skeletal hyperostosis. (19908933)Eckertova M.... Zorad S.2009IGF1, IGFBP3
6A case of familial tumoral calcinosis/hyperostosis-hy perphosphatemia syndrome due to a compound heterozygous mutation in GALNT3 demo nstrating new phenotypic features. (18982401)Dumitrescu C.E.... Collins M.T.2009GALNT3
7A novel missense mutation in GALNT3 causing hyperostosis-hyperphosphataemia syndrome. (18322299)Olauson H.... Larsson T.E.2008GALNT3, FGF23
8Genetic analysis and effect of triiodothyronine and prednisone trial on bone turnover in a patient with craniotubular hyperostosis. (18538647)Lopez J.M.... Gonzalez G.2008LRP5, KREMEN1, SOST
9Prenatal cortical hyperostosis with COL1A1 gene mutation. (18553566)Kamoun-Goldrat A.... Le Merrer M.2008COL1A1
10The c.3040C > T mutation in COL1A1 is recurrent in Korean patients with infantile cortical hyperostosis (Caffey disease). (18704262)Cho T.J.... Choi I.H.2008COL1A1
11Hyperostosis-hyperphosphatemia syndrome: a congenital disorder of O-glycosylation associated with augmented processing of fibroblast growth factor 23. (17129170)Frishberg Y.... Fukumoto S.2007GALNT3, FGF23
12Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations. (17311862)Ichikawa S.... Econs M.J.2007GALNT3, FGF23
13A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. (15864348)Gensure R.C.... Jueppner H.2005COL1A1
14COL6A1, the candidate gene for ossification of the posterior longitudinal ligament, is associated with diffuse idiopathic skeletal hyperostosis in Japanese. (16227896)Tsukahara S.... Inoue I.2005COL6A1
15A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene. (15869924)Balemans W.... Van Hul W.2005SOST
16Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders. (15599692)Frishberg Y.... Sprecher E.2005GALNT3, GTDC2
17Autosomal dominant hyperostosis/osteosclerosis with high serum alkaline phosphatase activity. (12788869)Hernandez-Cassis C.... Iglesias Gamarra A.2003ALPL
18Ossification of the posterior longitudinal ligament, diffuse, idiopathic skeletal hyperostosis, abnormal retinol and retinol binding protein: a familial observation. (7562783)De Bandt M.... Kahn M.F.1995RBP4
19Growth promoting peptides in osteoarthritis and diffu se idiopathic skeletal hyperostosis--insulin, insulin-like growth factor-I, gro wth hormone. (7799357)Denko C.W.... Moskowitz R.W.1994IGF1

Expression for genes affiliated with Hyperostosis

Sources:
1BioGPS
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Expression patterns in normal tissues for genes affiliated with Hyperostosis

Pathways for genes affiliated with Hyperostosis

Sources:
36QIAGEN, 41Thomson Reuters, 10EMD Millipore, 20KEGG
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Compounds for genes affiliated with Hyperostosis

Sources:
32Novoseek , 9DrugBank, 18HMDB, 34PharmGKB, 42Tocris Bioscience
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Compounds related to hyperostosis according to GeneDecks:

(show top 50)    (show all 70)
idCompoundScoreTop Affiliating Genes
1glucose32 10.4PTH
2bleomycin32 9 9 12.3COL1A1, IGF1
3iplex32 10.2IGF1, IGFBP3
4estradiol32 9 18 9 13.1CFI, TNFRSF11B
5pge232 10.0TNFRSF11B, SPP1
6aspartate32 9.9RBP4, ALPL, TNFRSF11B
7dehydroepiandrosterone sulfate32 9.8PTH, IGF1, IGFBP3, RBP4
8androstenedione32 18 10.7RBP4, IGFBP3, IGF1, PTH
9triiodothyronine32 9.6TNFRSF11B, IGF1, IGFBP3, RBP4
10alizarin32 9.6BGLAP, ALPL, SPP1
11eb 108932 9.5BGLAP, IGFBP3, IGF1
12alizarin red s32 9.4BGLAP, TGFB1
13pyridinoline32 9.4TNFRSF11B, IGF1, IGFBP3, BGLAP
14pamidronate32 9 9 11.4BGLAP, TNFRSF11B, PTH
15raloxifene32 9 9 11.4BGLAP, IGFBP3, IGF1, TNFRSF11B
16alendronate32 9 9 11.3PTH, TNFRSF11B, IGF1, BGLAP
17titanium32 9.2SPP1, TNFRSF11B, BGLAP
18alpha tocopherol32 9.2IGF1, IGFBP3, BGLAP, RBP4
19clonidine32 9 9 11.2BGLAP, IGFBP3, IGF1, TGFB1
20estrone32 9 18 9 12.2PTH, IGF1, IGFBP3, BGLAP
21deoxypyridinoline32 9.1PTH, TNFRSF11B, IGF1, IGFBP3, BGLAP
22alginate32 9.1TGFB1, SPP1, IGF1, BGLAP
23hydroxyapatite32 9.0SPP1, TNFRSF11B, ALPL, FGF23, BGLAP
24dhea32 9.0TNFRSF11B, HLA-B, IGF1, IGFBP3
25phosphorus32 8.8SPP1, PTH, TNFRSF11B, FGF23, BGLAP, RBP4
26dihydrotestosterone32 9 18 9 11.7TGFB1, TNFRSF11B, IGF1, IGFBP3, BGLAP
27heparin32 9 18 9 11.7SPP1, TNFRSF11B, FGF23, GTDC2, BGLAP
28hydroxyproline32 18 9.7TGFB1, COL1A1, PTH, TNFRSF11B, BGLAP
2925-hydroxyvitamin d32 8.5SPP1, PTH, TNFRSF11B, IGF1, IGFBP3, FGF23
30ascorbic acid32 18 9.4SPP1, TNFRSF11B, IGFBP3, BGLAP, RBP4
31tamoxifen32 34 9 9 11.4TGFB1, PTH, TNFRSF11B, IGF1, IGFBP3, BGLAP
32sb 20358032 42 9.2BGLAP, IGF1, TNFRSF11B, SPP1, TGFB1
33cholesterol32 9 18 9 11.2SPP1, TNFRSF11B, HLA-B, IGF1, IGFBP3, CFI
34thyroxine32 18 9.1TGFB1, PTH, TNFRSF11B, IGF1, IGFBP3, CFI
35testosterone32 9 18 9 10.9SPP1, PTH, TNFRSF11B, HLA-B, IGFBP3, CFI
36procollagen32 7.9TGFB1, COL1A1, SPP1, PTH, TNFRSF11B, IGF1
37ribonucleic acid32 7.8TGFB1, COL1A1, SPP1, PTH, HLA-B, IGF1
38arginine32 7.8COL1A1, SPP1, PTH, HLA-B, IGF1, IGFBP3
39calcitriol32 42 9 18 9 11.7TGFB1, SPP1, PTH, TNFRSF11B, IGF1, IGFBP3
40cysteine32 7.7SPP1, COL1A1, COL6A1, SOST, TNFRSF11B, ALPL
41cyclosporin a32 42 8.6TGFB1, SPP1, TNFRSF11B, HLA-B, IGFBP3, BGLAP
421,25 dihydroxy vitamin d332 7.6LRP5, TGFB1, COL1A1, SPP1, PTH, TNFRSF11B
43vegf32 7.5TGFB1, COL1A1, SPP1, PTH, TNFRSF11B, IGF1
44creatinine32 7.2TGFB1, SPP1, PTH, TNFRSF11B, HLA-B, IGF1
45estrogen32 7.2SOST, TGFB1, COL1A1, SPP1, PTH, TNFRSF11B
46vitamin d32 7.1PTH, SPP1, COL1A1, TGFB1, SOST, TNFRSF11B
47dexamethasone32 42 34 9 9 10.8TGFB1, COL1A1, SPP1, PTH, TNFRSF11B, HLA-B
48calcium32 9 18 9 9.3TNFRSF11B, PTH, SPP1, COL1A1, SOST, GALNT3
49retinoic acid32 42 18 8.2HLA-B, TNFRSF11B, SPP1, COL1A1, TGFB1, ALPL
50serine32 6.1TGFB1, COL1A1, SPP1, TNFRSF11B, HLA-B, IGF1

GO Terms for genes affiliated with Hyperostosis

Sources:
12Gene Ontology
See all sources

Cellular components related to hyperostosis according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1insulin-like growth factor binding protein complexGO:0169429.7IGFBP3, IGF1
2membrane-bounded vesicleGO:0319889.5BGLAP, SPP1
3extracellular spaceGO:0056156.1KL, SOST, TGFB1, COL1A1, SPP1, PTH
4extracellular regionGO:0055765.5PTH, SPP1, COL10A1, COL1A1, COL6A1, TGFB1

Biological processes related to hyperostosis according to GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathwayGO:09008010.0KL, FGF23
2regulation of canonical Wnt receptor signaling pathwayGO:06082810.0LRP5, KREMEN1
3Wnt receptor signaling pathwayGO:0160559.6SOST, KREMEN1, LRP5, LRP4
4negative regulation of ossificationGO:0302799.6LRP4, TGFB1, SOST
5positive regulation of bone mineralizationGO:0305019.3TGFB1, PTH, KL
6extracellular matrix organizationGO:0301989.3COL6A1, COL1A1, COL10A1, TNFRSF11B
7osteoblast differentiationGO:0016499.0BGLAP, SPP1, COL1A1
8positive regulation of transcription, DNA-dependentGO:0458939.0SOST, TGFB1, COL1A1, IGF1, FGF23, LRP5
9response to vitamin DGO:0332808.8TGFB1, SPP1, ALPL, BGLAP
10skeletal system developmentGO:0015018.3BGLAP, IGF1, ALPL, TNFRSF11B, PTH, COL10A1

Sources for Hyperostosis

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS