Aliases & Classifications for Hyperostosis

MalaCards integrated aliases for Hyperostosis:

Name: Hyperostosis 12 54 6 44 15 70
Hypertrophy of Bone 12 32
Bone Hypertrophy 12

Classifications:



External Ids:

Disease Ontology 12 DOID:205
MeSH 44 D015576
NCIt 50 C34712
SNOMED-CT 67 13814009
ICD10 32 M89.3
UMLS 70 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 tumoral calcinosis, hyperphosphatemic, familial, 1 and van buchem disease. An important gene associated with Hyperostosis is POLR3GL (RNA Polymerase III Subunit GL), and among its related pathways/superpathways are Degradation of the extracellular matrix and Adhesion. 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 : 73 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 517)
# Related Disease Score Top Affiliating Genes
1 tumoral calcinosis, hyperphosphatemic, familial, 1 33.1 KL GALNT3 FGF23
2 van buchem disease 32.8 SOST LRP5 LRP4 KREMEN1 COL1A1
3 endosteal hyperostosis, autosomal dominant 32.7 TNFRSF11B SOST LRP5 COL1A2 COL1A1
4 sclerosteosis 1 32.4 SOST LRP5 LRP4
5 sclerosteosis 32.2 SOST LRP5 LRP4 KREMEN1 COL1A1
6 craniodiaphyseal dysplasia 31.8 SOST PTDSS1 LRP5 ANKH
7 craniometaphyseal dysplasia, autosomal dominant 31.6 TNFRSF11B SPP1 SOST GJA1 ANKH ALPL
8 sclerosteosis 2 31.6 SOST LRP5 LRP4 KREMEN1
9 ankylosis 31.1 TNFRSF11B SOST ANKH
10 enthesopathy 31.0 KL GALNT3 FGF23 ANKH
11 hyperphosphatemia 30.7 SPP1 KL GALNT3 FGF23
12 spinal stenosis 30.6 MMP13 COL1A2 COL1A1
13 familial tumoral calcinosis 30.6 KL GALNT3 FGF23
14 facial paralysis 30.5 SOST LRP5 ANKH
15 fibrous dysplasia 30.4 SPP1 IGF1 FGF23
16 rickets 30.4 KL FGF23 ALPL
17 calcinosis 30.4 SPP1 KL GALNT3 FGF23 ANKH
18 chondrocalcinosis 30.3 TNFRSF11B ANKH ALPL
19 renal osteodystrophy 30.2 TNFRSF11B SOST FGF23
20 arthropathy 30.2 TNFRSF11B MMP13 IGF1 ANKH ALPL
21 mccune-albright syndrome 30.1 SOST LRP5 IGF1 FGF23
22 familial calcium pyrophosphate deposition 30.0 TNFRSF11B ANKH
23 scleroderma, familial progressive 30.0 COL1A2 COL1A1
24 hyperparathyroidism 29.9 TNFRSF11B KL FGF23
25 autosomal recessive hypophosphatemic rickets 29.9 SOST KL GALNT3 FGF23
26 secondary hyperparathyroidism 29.9 TNFRSF11B KL FGF23
27 osteonecrosis 29.8 TNFRSF11B LRP5 IGF1
28 hypophosphatemia 29.8 SPP1 KL FGF23 ALPL
29 scoliosis 29.8 TNFRSF11B SLC39A14 MMP13 IGF1 COL1A2 COL1A1
30 osteogenesis imperfecta, type ii 29.8 COL1A2 COL1A1 ALPL
31 bone resorption disease 29.8 TNFRSF11B SPP1 SOST LRP5 IGF1 FGF23
32 bone disease 29.6 TNFRSF11B SPP1 SOST MMP13 LRP5 IGF1
33 brittle bone disorder 29.6 TNFRSF11B SPP1 SOST MMP13 LRP5 IGF1
34 pseudoxanthoma elasticum 29.5 SPP1 ANKH ALPL
35 tooth agenesis 29.5 POLR3GL MMP13 KREMEN1 COL1A2
36 arterial calcification of infancy 29.4 SPP1 KL GALNT3 FGF23 ANKH ALPL
37 type 2 diabetes mellitus 29.3 TNFRSF11B SPP1 SOST LRP5 KL IGF1
38 osteoporosis 29.2 TNFRSF11B SPP1 SOST LRP5 KREMEN1 KL
39 osteochondrodysplasia 28.8 SPP1 SOST MMP13 LRP5 IGF1 GJA1
40 caffey disease 11.7
41 diffuse idiopathic skeletal hyperostosis 11.7
42 hyperostosis cranialis interna 11.6
43 hyperostosis frontalis interna 11.5
44 exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 11.5
45 calvarial hyperostosis 11.4
46 paget disease of bone 5, juvenile-onset 11.4
47 osteopathia striata with cranial sclerosis 11.4
48 sapho syndrome 11.4
49 camurati-engelmann disease 11.4
50 ankylosing vertebral hyperostosis with tylosis 11.2

Graphical network of the top 20 diseases related to Hyperostosis:



Diseases related to Hyperostosis

Symptoms & Phenotypes for Hyperostosis

MGI Mouse Phenotypes related to Hyperostosis:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.49 ALPL ANKH COL1A1 COL1A2 COX4I2 FGF23
2 cellular MP:0005384 10.44 ALPL ANKH COL1A1 COL1A2 GALNT3 GJA1
3 homeostasis/metabolism MP:0005376 10.42 ALPL ANKH COL1A1 COL1A2 COX4I2 FGF23
4 behavior/neurological MP:0005386 10.4 ALPL ANKH COL1A1 COL1A2 COX4I2 GJA1
5 cardiovascular system MP:0005385 10.39 ALPL ANKH COL1A1 COL1A2 FGF23 GALNT3
6 limbs/digits/tail MP:0005371 10.34 ALPL ANKH COL1A1 COL1A2 FGF23 GALNT3
7 hematopoietic system MP:0005397 10.29 ALPL ANKH COL1A1 COL1A2 FGF23 GALNT3
8 immune system MP:0005387 10.29 ALPL ANKH COL1A1 COL1A2 COX4I2 FGF23
9 mortality/aging MP:0010768 10.28 ALPL ANKH COL1A1 COL1A2 FGF23 GJA1
10 craniofacial MP:0005382 10.26 ALPL ANKH COL1A1 GALNT3 GJA1 KL
11 endocrine/exocrine gland MP:0005379 10.2 ALPL COL1A1 FGF23 GALNT3 GJA1 IGF1
12 integument MP:0010771 10.16 COL1A1 COL1A2 FGF23 GALNT3 GJA1 IGF1
13 muscle MP:0005369 10.11 ALPL ANKH COL1A1 COL1A2 GALNT3 GJA1
14 nervous system MP:0003631 10.06 ALPL COL1A1 COL1A2 GJA1 IGF1 KL
15 hearing/vestibular/ear MP:0005377 10 ANKH COL1A1 GJA1 IGF1 KL TNFRSF11B
16 reproductive system MP:0005389 9.9 ALPL ANKH COL1A1 FGF23 GALNT3 GJA1
17 renal/urinary system MP:0005367 9.86 COL1A1 FGF23 GALNT3 IGF1 KL LRP4
18 respiratory system MP:0005388 9.65 ALPL ANKH COL1A1 COX4I2 FGF23 GJA1
19 skeleton MP:0005390 9.55 ALPL ANKH COL1A1 COL1A2 FGF23 GALNT3

Drugs & Therapeutics for Hyperostosis

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pamidronate Approved Phase 1 40391-99-9 4674
2 Diphosphonates Phase 1
3 insulin
4 Insulin, Globin Zinc

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 Immune Mechanisms During SAPHO Syndrome and Treatment by Etarnecept Completed NCT01688219
3 Identification of Mutations That Lead to Craniometaphyseal Dysplasia in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms Recruiting NCT01630460
4 Magnetic Resonance Imaging in High Risk Patients for the Development of Diffuse Idiopathic Skeletal Hyperostosis (DISH) Recruiting NCT03237455
5 Characterizing Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis (SAPHO) With 68Ga-FAPI PET/CT Recruiting NCT04596462 Early Phase 1 68Ga-FAPI

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, Kidney

Publications for Hyperostosis

Articles related to Hyperostosis:

(show top 50) (show all 3692)
# 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. 54 61
18553566 2008
3
A novel missense mutation in GALNT3 causing hyperostosis-hyperphosphataemia syndrome. 61 54
18322299 2008
4
A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin-related disorders. 54 61
17009344 2006
5
A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene. 54 61
15869924 2005
6
Jacques Forestier: Forgotten Contributions of a Rheumatologist to Spine Surgery. 61
33444823 2021
7
Progressive proptosis secondary to pneumosinus dilatans of the ethmoidal sinus in a pediatric patient. 61
32316816 2021
8
Fibromyalgia in patients with synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome: prevalence and screening. 61
32949312 2021
9
Hyperostosis frontalis interna by bone scintigraphy. 61
33791814 2021
10
Meralgia Paresthetica Caused by Melorheostosis Affecting the Ipsilateral Ilium: A Case Report. 61
33798122 2021
11
Clinical characteristics of pediatric synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome: the first Chinese case series from a single center. 61
32929648 2021
12
Frontometaphyseal dysplasia 1 in a patient from Sri Lanka. 61
33372358 2021
13
Orbital decompressive effect of endoscopic transorbital surgery for sphenoorbital meningioma. 61
33226438 2021
14
Pachydermoperiostosis Presenting With Vision Loss Secondary to Severe Phlyctenular Keratoconjunctivitis. 61
33758137 2021
15
Serum Sp17 Autoantibody Serves as a Potential Specific Biomarker in Patients with SAPHO Syndrome. 61
33392854 2021
16
Idiopathic dorsal spinal cord herniation perforating the lamina: a case report and review of the literature. 61
33745029 2021
17
Using a multimethod life history approach to navigate the osteological paradox: A case study from Prehispanic Nasca, Peru. 61
33782949 2021
18
An Unrecognized Ligament and its Ossification in the Craniocervical Junction: Prevalence, Patient Characteristics, and Anatomic Evidence. 61
33739308 2021
19
A Scoring System for Anterior Longitudinal Ligament Ossification of the Lumbar Spine in Diffuse Idiopathic Skeletal Hyperostosis: Relationship Between the Extent of Ligament Ossification and the Range of Motion. 61
33655763 2021
20
Co-occurrence of malignant neoplasm and Hyperostosis Frontalis Interna in an Iron Age individual from Münsingen-Rain (Switzerland): A multi-diagnostic study. 61
33176226 2021
21
A rare case of hyperostosis frontalis interna in an 86-year-old Japanese female cadaver. 61
33001387 2021
22
Diffuse idiopathic skeletal hyperostosis in elderly Icelanders and its association with the metabolic syndrome: the AGES-Reykjavik Study. 61
33682605 2021
23
Thoracic outlet syndrome in a patient with SAPHO syndrome - A case report. 61
33667913 2021
24
Prevalence of anti-cyclic citrullinated peptide antibodies in patients with spondyloarthritis: A retrospective study. 61
32340503 2021
25
Triad of hypovitaminosis A, hyperostosis, and optic neuropathy in males with autism spectrum disorders. 61
33666531 2021
26
A Rare Case of Nontraumatic Thoracic Compression Fracture in a 28-Year-Old Man. 61
32618750 2021
27
The effectiveness of treatments for patients with SAPHO syndrome: a follow-up study of 24 cases from a single center and review of literature. 61
32789818 2021
28
Clinical and Radiological Remission of Osteoarticular and Cutaneous Lesions in SAPHO Patients Treated With Secukinumab: A Case Series. 61
33649072 2021
29
Coexistence of Sjögren syndrome in patients with synovitis, acne, pustulosis, hyperostosis, and osteitis syndrome: A retrospective observational study. 61
33761629 2021
30
Diagnostic challenge of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome in pediatric age: A monocentric case series. 61
33627034 2021
31
[SAPHO syndrome : An overview and nosological differentiation of 35 disease cases]. 61
33725179 2021
32
Two Cases of Severe Type 2 Respiratory Failure Associated with Diffuse Idiopathic Skeletal Hyperostosis. 61
33550773 2021
33
Dysostosis in mucopolysaccharidosis type 2: A case of longitudinal follow up and literature review. 61
33488893 2021
34
Gross and radiographic appearance of porotic hyperostosis and cribra orbitalia in thalassemia affected skulls. 61
33731491 2021
35
Pustular Psoriasis and Associated Musculoskeletal Disorders. 61
33722939 2021
36
Skull Base Primary Extracranial Meningioma with Hyperostosis in a Small Mixed-Breed Dog. 61
33770180 2021
37
Surgical Treatment of Diffuse Idiopathic Skeletal Hyperostosis (DISH) Involving the Cervical Spine: Technical Nuances and Outcome of a Multicenter Experience. 61
33590802 2021
38
Diffuse Peripheral Enthesitis in Metabolic Syndrome: A Retrospective Clinical and Power Doppler Ultrasound Study. 61
33640321 2021
39
Surgical Resection of Clinoidal Meningiomas without Routine Use of Clinoidectomy. 61
33130137 2021
40
Open Excision of Olecranon Melorheostosis to Relieve Elbow Extension Block. 61
33648811 2021
41
Intestinal ulcers induced by intravesical bacillus Calmette-Guérin therapy. 61
33492192 2021
42
Significant Improvement After Surgery for a Symptomatic Osteoblastoma in a Patient with Camurati-Engelmann Disease: Case Report and Literature Review. 61
33555353 2021
43
A new LRP6 variant and Camurati-Engelmann-like disease. 61
33164853 2021
44
Diffuse Idiopathic Skeletal Hyperostosis (DISH) in Type 2 Diabetes: A New Imaging Possibility and a New Biomarker. 61
33047242 2021
45
Ossification of Posterior Longitudinal Ligament in Cervical Spine and Its Association With Ossified Lesions in the Whole Spine: A Cross-Sectional Study of 2500 CT Scans. 61
33567929 2021
46
Diffuse Calvarial Hyperostosis in Patients with Spontaneous Intracranial Hypotension. 61
33220476 2021
47
MRI predictors for brain invasion in meningiomas. 61
32924772 2021
48
Osteoblastic and hyperostotic craniofacial lesion detected by 99mTc-labeled methylene diphosphonate bone scintigraphy and single-photon emission computed tomography/computed tomography: a pictorial essay. 61
33165260 2021
49
Hypertrophic Pachymeningitis Related Brain Infarction in Synovitis-Acne-Pustulosis-Hyperostosis Osteomyelitis Syndrome. 61
33307288 2021
50
Lobular panniculitis associated with synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. 61
32840874 2021

Variations for Hyperostosis

ClinVar genetic disease variations for Hyperostosis:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POLR3GL NM_032305.3(POLR3GL):c.326-1G>A SNV Likely pathogenic 617636 rs1553763618 GRCh37: 1:145457605-145457605
GRCh38: 1:145977482-145977482
2 POLR3GL NM_032305.3(POLR3GL):c.-41-1G>A SNV Likely pathogenic 617676 rs782661984 GRCh37: 1:145460264-145460264
GRCh38: 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 9.96 TNFRSF11B SPP1 SOST MMP13 KL IGF1
2 endoplasmic reticulum lumen GO:0005788 9.67 SPP1 FGF23 COL1A2 COL1A1
3 extracellular matrix GO:0031012 9.55 TNFRSF11B MMP13 COL1A2 COL1A1 ALPL
4 collagen trimer GO:0005581 9.5 MMP13 COL1A2 COL1A1
5 extracellular space GO:0005615 9.32 TNFRSF11B SPP1 SOST MMP13 KL IGF1
6 collagen type I trimer GO:0005584 8.96 COL1A2 COL1A1

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.88 SPP1 SOST LRP5 IGF1 FGF23 COL1A1
2 Wnt signaling pathway GO:0016055 9.78 SOST LRP5 LRP4 KREMEN1
3 cellular protein metabolic process GO:0044267 9.76 SPP1 MMP13 IGF1 FGF23
4 ossification GO:0001503 9.72 SPP1 SOST COL1A1
5 osteoblast differentiation GO:0001649 9.71 SPP1 COL1A1 ALPL
6 fibroblast growth factor receptor signaling pathway GO:0008543 9.67 KL GALNT3 FGF23
7 extracellular matrix organization GO:0030198 9.65 TNFRSF11B SPP1 MMP13 COL1A2 COL1A1
8 response to peptide hormone GO:0043434 9.61 LRP5 GJA1 COL1A1
9 bone remodeling GO:0046849 9.57 LRP5 GJA1
10 response to vitamin D GO:0033280 9.56 SPP1 ALPL
11 response to magnesium ion GO:0032026 9.52 TNFRSF11B FGF23
12 skin morphogenesis GO:0043589 9.51 COL1A2 COL1A1
13 endochondral ossification GO:0001958 9.5 MMP13 COL1A1 ALPL
14 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.37 KL FGF23
15 negative regulation of ossification GO:0030279 9.33 SOST LRP4 KREMEN1
16 cellular response to parathyroid hormone stimulus GO:0071374 9.13 SOST GJA1 FGF23
17 skeletal system development GO:0001501 9.1 TNFRSF11B IGF1 COL1A2 COL1A1 ANKH ALPL

Molecular functions related to Hyperostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 platelet-derived growth factor binding GO:0048407 8.62 COL1A2 COL1A1

Sources for Hyperostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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