Aliases & Classifications for Hyperostosis

MalaCards integrated aliases for Hyperostosis:

Name: Hyperostosis 12 54 6 43 15 71
Hypertrophy of Bone 12 32
Bone Hypertrophy 12

Classifications:



External Ids:

Disease Ontology 12 DOID:205
MeSH 43 D015576
NCIt 49 C34712
SNOMED-CT 67 13814009
ICD10 32 M89.3 M89.30
UMLS 71 C0020492

Summaries for Hyperostosis

Disease Ontology : 12 A bone remodeling disease that results in an abnormal growth of located in bone.

MalaCards based summary : Hyperostosis, also known as hypertrophy of bone, is related to endosteal hyperostosis, autosomal dominant and tumoral calcinosis, hyperphosphatemic, familial, 1. An important gene associated with Hyperostosis is SOST (Sclerostin), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Senescence and Autophagy in Cancer. The drugs Pamidronate and Diphosphonates have been mentioned in the context of this disorder. Affiliated tissues include bone, spinal cord and brain, and related phenotypes are growth/size/body region and cellular

Wikipedia : 74 Hyperostosis is an excessive growth of bone. It may lead to exostosis. It occurs in many musculoskeletal... more...

Related Diseases for Hyperostosis

Diseases related to Hyperostosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 500)
# Related Disease Score Top Affiliating Genes
1 endosteal hyperostosis, autosomal dominant 34.6 TNFRSF11B TGFB1 SOST LRP5
2 tumoral calcinosis, hyperphosphatemic, familial, 1 34.3 KL GALNT3 FGF23
3 van buchem disease 34.1 TNFRSF11B TGFB1 SOST LRP5 KREMEN1 COL1A1
4 osteopathia striata with cranial sclerosis 33.8 LRP5 AMER1
5 camurati-engelmann disease 33.8 TGFB1 SOST LRP5 ANKH
6 sclerosteosis 1 33.7 SOST LRP5
7 sclerosteosis 33.6 TNFRSF11B TGFB1 SOST LRP5 KREMEN1 COL1A1
8 craniometaphyseal dysplasia, autosomal dominant 33.1 TNFRSF11B GJA1 ANKH
9 craniodiaphyseal dysplasia 33.1 SOST PTDSS1 LRP5 ANKH
10 sclerosteosis 2 32.9 SOST LRP5 KREMEN1
11 ankylosis 31.3 TNFRSF11B TGFB1 ANKH
12 familial tumoral calcinosis 30.9 KL GALNT3 FGF23
13 hyperphosphatemia 30.9 TNFRSF11B SPP1 KL GALNT3 FGF23
14 facial paralysis 30.7 TGFB1 SOST LRP5 ANKH
15 fibrous dysplasia 30.7 SPP1 IGF1 FGF23
16 calcinosis 30.6 SPP1 KL GALNT3 FGF23 ANKH
17 renal osteodystrophy 30.5 TNFRSF11B SOST FGF23
18 chondrocalcinosis 30.5 TNFRSF11B ANKH ALPL
19 arthropathy 30.4 TNFRSF11B MMP13 IGF1 ANKH ALPL
20 brittle bone disorder 30.4 TNFRSF11B SPP1 SOST LRP5 COL1A1 ALPL
21 mccune-albright syndrome 30.3 SOST LRP5 IGF1 FGF23
22 rickets 30.3 SPP1 KL FGF23 ALPL
23 secondary hyperparathyroidism 30.2 TNFRSF11B KL FGF23
24 hyperparathyroidism 30.2 TNFRSF11B SOST KL FGF23
25 osteonecrosis 30.1 TNFRSF11B LRP5 IGF1
26 autosomal recessive hypophosphatemic rickets 30.1 SPP1 KL GALNT3 FGF23
27 scoliosis 30.0 TNFRSF11B TGFB1 SLC39A14 MMP13 IGF1 COL1A1
28 bone resorption disease 30.0 TNFRSF11B SPP1 SOST LRP5 KL IGF1
29 bone disease 29.9 TNFRSF11B SPP1 SOST MMP13 LRP5 IGF1
30 hypophosphatemia 29.9 SPP1 KL FGF23 ALPL
31 craniosynostosis 29.8 SPP1 LRP5 FGF23 ANKH ALPL
32 arterial calcification of infancy 29.6 SPP1 KL GALNT3 FGF23 ANKH ALPL
33 pseudoxanthoma elasticum 29.6 SPP1 ANKH ALPL
34 chronic kidney disease 29.5 TNFRSF11B TGFB1 SPP1 SOST KL IGF1
35 osteoporosis 29.5 TNFRSF11B TGFB1 SPP1 SOST LRP5 KREMEN1
36 diffuse idiopathic skeletal hyperostosis 12.8
37 hyperostosis cranialis interna 12.7
38 hyperostosis frontalis interna 12.7
39 calvarial hyperostosis 12.7
40 exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 12.6
41 ankylosing vertebral hyperostosis with tylosis 12.5
42 caffey disease 12.5
43 polyosteolysis-hyperostosis syndrome 12.3
44 dysplastic cortical hyperostosis 12.3
45 isolated sternocostoclavicular hyperostosis 12.3
46 paget disease of bone 5, juvenile-onset 12.2
47 sapho syndrome 11.9
48 tumoral calcinosis, hyperphosphatemic, familial, 2 11.6
49 tumoral calcinosis, hyperphosphatemic, familial, 3 11.6
50 exostosis 11.5

Graphical network of the top 20 diseases related to Hyperostosis:



Diseases related to Hyperostosis

Symptoms & Phenotypes for Hyperostosis

MGI Mouse Phenotypes related to Hyperostosis:

45 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.48 ALPL AMER1 ANKH COL1A1 COX4I2 FGF23
2 cellular MP:0005384 10.43 ALPL AMER1 ANKH COL1A1 GALNT3 GJA1
3 cardiovascular system MP:0005385 10.41 ALPL AMER1 ANKH COL1A1 FGF23 GALNT3
4 homeostasis/metabolism MP:0005376 10.41 ALPL AMER1 ANKH COL1A1 COX4I2 FGF23
5 hematopoietic system MP:0005397 10.31 ALPL AMER1 ANKH COL1A1 FGF23 GALNT3
6 immune system MP:0005387 10.3 ALPL AMER1 ANKH COL1A1 COX4I2 FGF23
7 craniofacial MP:0005382 10.29 ALPL AMER1 ANKH COL1A1 GALNT3 GJA1
8 limbs/digits/tail MP:0005371 10.28 ALPL AMER1 ANKH COL1A1 FGF23 GALNT3
9 mortality/aging MP:0010768 10.21 ALPL AMER1 ANKH COL1A1 FGF23 GJA1
10 endocrine/exocrine gland MP:0005379 10.19 ALPL COL1A1 FGF23 GALNT3 GJA1 IGF1
11 adipose tissue MP:0005375 10.12 ALPL AMER1 COL1A1 IGF1 KL SLC39A14
12 integument MP:0010771 10.09 COL1A1 FGF23 GALNT3 GJA1 IGF1 KL
13 muscle MP:0005369 10.02 ALPL ANKH COL1A1 GALNT3 GJA1 IGF1
14 hearing/vestibular/ear MP:0005377 9.99 ANKH COL1A1 GJA1 IGF1 KL TNFRSF11B
15 reproductive system MP:0005389 9.9 ALPL ANKH COL1A1 FGF23 GALNT3 GJA1
16 renal/urinary system MP:0005367 9.86 AMER1 COL1A1 FGF23 GALNT3 IGF1 KL
17 respiratory system MP:0005388 9.65 ALPL ANKH COL1A1 COX4I2 FGF23 GJA1
18 skeleton MP:0005390 9.55 ALPL AMER1 ANKH COL1A1 FGF23 GALNT3

Drugs & Therapeutics for Hyperostosis

Drugs for Hyperostosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pamidronate Approved Phase 2 40391-99-9 4674
2 Diphosphonates Phase 1
3
Isotretinoin Approved 4759-48-2 5282379 5538
4
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
5
Calcifediol Approved, Nutraceutical 19356-17-3 5283731 6433735
6 Pharmaceutical Solutions
7 Trace Elements
8 Vitamins
9 Micronutrients
10 Nutrients
11 Dermatologic Agents
12 Hydroxycholecalciferols
13 Calciferol
14 insulin
15 Insulin, Globin Zinc

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Chronic Non-bacterial Osteomyelitis Treated With Pamidronate in a Randomised Placebo Controlled Trial Unknown status NCT02594878 Phase 2 Pamidronatdinatrium
2 Unrandomized, Open Label Single-center Study to Assess the Long Term Efficacy of Intravenous Bisphosphonates for Bone Marrow Edema in Patients With SAPHO Syndrome Completed NCT02544659 Phase 1 pamidronate disodium
3 Comparative Study of The Relationship Between the Sacroiliac Joint (SIJ) and Lumbopelvic Configurations With SIJ Nerve Entrapments and Chronic Low Back Pain Unknown status NCT02115009
4 Immune Mechanisms During SAPHO Syndrome and Treatment by Etarnecept Completed NCT01688219
5 A Prospective, Randomized, Multicenter Clinical Study to Compare the Safety and Efficacy of TC-A PS Total Knee System With TC-PLUS Solution PS Total Knee System in Chinese Subjects Completed NCT02139345
6 The Relationship Between Serum 25 Hydroxy Vitamin D Levels and Musculoskeletal Adverse Effects in Patients With Acne Vulgaris Using Isotretinoin: A Cross-sectional Controlled Study Completed NCT04204304 Isotretinoin
7 Identification of Mutations That Lead to Craniometaphyseal Dysplasia in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms Recruiting NCT01630460
8 Magnetic Resonance Imaging in High Risk Patients for the Development of Diffuse Idiopathic Skeletal Hyperostosis (DISH) Recruiting NCT03237455
9 Study of the Natural History, Pathogenesis and Outcome of Melorheostosis - a Rare Osteosclerotic Disease Recruiting NCT02504879
10 Prophylaxis Low-Dose Radiation Therapy for Heterotopic Ossification in Distal Humerus Fractures Not yet recruiting NCT03724422

Search NIH Clinical Center for Hyperostosis

Cochrane evidence based reviews: hyperostosis

Genetic Tests for Hyperostosis

Anatomical Context for Hyperostosis

MalaCards organs/tissues related to Hyperostosis:

40
Bone, Spinal Cord, Brain, Heart, Skin, Bone Marrow, Neutrophil

Publications for Hyperostosis

Articles related to Hyperostosis:

(show top 50) (show all 3425)
# Title Authors PMID Year
1
Genetic analysis and effect of triiodothyronine and prednisone trial on bone turnover in a patient with craniotubular hyperostosis. 61 54
18538647 2008
2
Prenatal cortical hyperostosis with COL1A1 gene mutation. 61 54
18553566 2008
3
A novel missense mutation in GALNT3 causing hyperostosis-hyperphosphataemia syndrome. 54 61
18322299 2008
4
A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders. 61 54
17009344 2006
5
A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene. 61 54
15869924 2005
6
Biallelic variants in POLR3GL cause endosteal hyperostosis and oligodontia. 61
31089205 2020
7
A case study of vertebral fusion in a 19th-century horse from Serbia. 61
31550619 2019
8
Bone strength of the proximal femur in healthy subjects with ossification of the posterior longitudinal ligament. 61
31814062 2019
9
Chest pain that does not make the cut: a case study of a surgical patient with Synovitis, Acne, Pustulosis, Hyperostosis and Osteitis syndrome. 61
30239087 2019
10
Association analysis of interleukin-23 receptor SNPs and SAPHO syndrome in Chinese people. 61
31701644 2019
11
Cochlear Implantation in Craniometaphyseal Dysplasia. 61
31834875 2019
12
Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and SPP1 encoding osteopontin: The first digenic SIBLING protein osteopathy? 61
31843680 2019
13
Prevalence of Diffuse Idiopathic Skeletal Hyperostosis in the General Elderly Population: A Japanese Cohort Survey Randomly Sampled From a Basic Resident Registry. 61
31851012 2019
14
Outcomes of lumbar decompression surgery in patients with diffuse idiopathic skeletal hyperostosis (DISH). 61
31551180 2019
15
A variant of neonatal progeroid syndrome, or Wiedemann-Rautenstrauch syndrome, is associated with a nonsense variant in POLR3GL. 61
31695177 2019
16
Finding of Hyperostosis Frontalis Interna During the Autopsy Procedure: Forensic Issues. 61
31162647 2019
17
Maxillofacial manifestations of Proteus syndrome: a systematic review with a case report. 61
31734933 2019
18
Osteopathic Considerations for Peripheral Neuropathy Due to Concomitant Diffuse Idiopathic Skeletal Hyperostosis Syndrome and Lumbar Epidural Lipomatosis: Case Report. 61
31746769 2019
19
Can CT and MRI features differentiate benign from malignant meningiomas? 61
31474303 2019
20
Port-wine stains associated with large vestibular aqueduct syndrome caused by mutations in GNAQ and SLC26A4 genes: A case report. 61
31692010 2019
21
Fetuin-A deficiency is associated with infantile cortical hyperostosis (Caffey disease). 61
31288248 2019
22
Lumbar spinal canal stenosis in patients with diffuse idiopathic skeletal hyperostosis: Surgical outcomes after posterior decompression surgery without spinal instrumentation. 61
31493999 2019
23
Changes in Maxillary Sinus Volume and It's Walls Thickness Due to Chronic Rhinosinusitis: A Prospective Study. 61
31763317 2019
24
Indicators of stress and their association with frailty in the precontact Southwestern United States. 61
31294832 2019
25
Dysphagia related to diffuse idiopathic skeletal hyperostosis (DISHphagia). 61
31788298 2019
26
Ancient Egyptian health: the prevalence of anemia at the origins of agriculture and state level society. 61
31593210 2019
27
Postcranial axial skeletal pathology in Commerson's dolphins Cephalorhynchus c. commersonii from Tierra del Fuego, Argentina. 61
31621651 2019
28
Fibrous Meningioma with Skull Invasion. 61
31831993 2019
29
Diffuse idiopathic skeletal hyperostosis in a 33-year-old woman with PCOS and metabolic syndrome: a rare scenario. 61
31676500 2019
30
Elevated plasma RANTES in fibrodysplasia ossificans progressiva - A novel therapeutic target? 61
31443758 2019
31
Diffuse idiopathic skeletal hyperostosis with esophageal involvement mimicking esophageal cancer. 61
31586426 2019
32
New explanation for autosomal dominant high bone mass: Mutation of low-density lipoprotein receptor-related protein 6. 61
31085352 2019
33
Skeletal phenotype/genotype in progressive pseudorheumatoid chondrodysplasia. 61
31628567 2019
34
Successful treatment of co-existent SAPHO syndrome and hidradenitis suppurativa with adalimumab and methotrexate. 61
31535768 2019
35
Bone Scan and SPECT/CT Scan in SAPHO Syndrome. 61
31579189 2019
36
Improvement of lymphangioleiomyomatosis following successful tofacitinib treatment for refractory synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome. 61
31503058 2019
37
Cervical myelopathy revealing a unique case of retinoid hyperostosis. 61
30660805 2019
38
Comparison of the AOSpine subaxial cervical spine injury classification system and the Allen classification. 61
31154508 2019
39
Novel Characteristic Skull Magnetic Resonance Imaging Features Associated With Meningioma. 61
31356523 2019
40
The ice age with little effect? Exploring stress in the Danish Black Friars cemetery before and after the turn of the 14th century. 61
30595482 2019
41
Outcomes After Pterional and Supraorbital Eyebrow Approach for Cranio-Orbital Lesions Communicated via the Supraorbital Fissure-A Retrospective Comparison. 61
31128311 2019
42
Diffuse idiopathic skeletal hyperostosis: Can we identify a peripheral pattern? 61
28528871 2019
43
[Coronary Artery Bypass Grafting complicated with sternocostoclavicular hyperostosis;Report of a Case]. 61
31506412 2019
44
Enthesopathy of the anterior chest wall joints in patients with diffuse idiopathic skeletal hyperostosis (DISH): a retrospective analysis of computed tomography scans. 61
31501958 2019
45
A probable case of infantile cortical hyperostosis in 2nd-4th centuries AD Romania. 61
31153087 2019
46
Molecular characterization of known and novel ACVR1 variants in phenotypes of aberrant ossification. 61
31240838 2019
47
Diffuse Idiopathic Skeletal Hyperostosis in an HLA-B27-Positive Subject. 61
30048388 2019
48
Association Between Vertebral Fracture and Diffuse Idiopathic Skeletal Hyperostosis. 61
31479433 2019
49
Rib Hyperostosis as a Risk Factor for Poor Prognosis in Cervical Spine Injury Patients with Diffuse Idiopathic Skeletal Hyperostosis. 61
31524820 2019
50
Arthroscopic Treatment for Femoroacetabular Impingement with Extraspinal Diffuse Idiopathic Skeletal Hyperostosis. 61
31475047 2019

Variations for Hyperostosis

ClinVar genetic disease variations for Hyperostosis:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POLR3GL NM_032305.3(POLR3GL):c.326-1G>ASNV Likely pathogenic 617636 rs1553763618 1:145457605-145457605 1:145977482-145977482
2 POLR3GL NM_032305.3(POLR3GL):c.-41-1G>ASNV Likely pathogenic 617676 rs782661984 1:145460264-145460264 1:145974824-145974824

Expression for Hyperostosis

Search GEO for disease gene expression data for Hyperostosis.

Pathways for Hyperostosis

GO Terms for Hyperostosis

Cellular components related to Hyperostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.85 TNFRSF11B TGFB1 SPP1 SOST MMP13 KL
2 extracellular matrix GO:0031012 9.35 TNFRSF11B TGFB1 MMP13 COL1A1 ALPL
3 extracellular space GO:0005615 9.32 TNFRSF11B TGFB1 SPP1 SOST MMP13 KL

Biological processes related to Hyperostosis according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.78 TNFRSF11B SPP1 MMP13 COL1A1
2 cellular protein metabolic process GO:0044267 9.76 SPP1 MMP13 IGF1 FGF23
3 osteoblast differentiation GO:0001649 9.74 SPP1 COL1A1 ALPL
4 response to estradiol GO:0032355 9.73 TGFB1 GJA1 COL1A1
5 Wnt signaling pathway GO:0016055 9.73 SOST LRP5 KREMEN1 AMER1
6 positive regulation of transcription, DNA-templated GO:0045893 9.7 TGFB1 SPP1 SOST LRP5 IGF1 FGF23
7 cellular response to mechanical stimulus GO:0071260 9.69 TGFB1 GJA1 COL1A1
8 fibroblast growth factor receptor signaling pathway GO:0008543 9.67 KL GALNT3 FGF23
9 bone remodeling GO:0046849 9.58 LRP5 GJA1
10 positive regulation of transcription regulatory region DNA binding GO:2000679 9.55 TGFB1 IGF1
11 response to magnesium ion GO:0032026 9.54 TNFRSF11B FGF23
12 endochondral ossification GO:0001958 9.54 MMP13 COL1A1 ALPL
13 cell activation GO:0001775 9.52 TGFB1 IGF1
14 negative regulation of ossification GO:0030279 9.5 TGFB1 SOST KREMEN1
15 response to vitamin D GO:0033280 9.43 TGFB1 SPP1 ALPL
16 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.4 KL FGF23
17 skeletal system development GO:0001501 9.35 TNFRSF11B IGF1 COL1A1 ANKH ALPL
18 cellular response to parathyroid hormone stimulus GO:0071374 8.8 SOST GJA1 FGF23

Sources for Hyperostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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