Endosteal Hyperostosis, Autosomal Dominant (WENHY)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Endosteal Hyperostosis, Autosomal Dominant

MalaCards integrated aliases for Endosteal Hyperostosis, Autosomal Dominant:

Name: Endosteal Hyperostosis, Autosomal Dominant 56 52
Osteosclerosis 56 12 74 54 43 15 71
Worth Syndrome 12 74 52 58 73 43
Osteosclerosis, Autosomal Dominant 56 52 54
Endosteal Hyperostosis, Worth Type 52 58 73
Hyperostosis, Endosteal 56 13 39
Worth Disease 29 6 71
Autosomal Dominant Osteosclerosis, Worth Type 52 58
Worth Type Autosomal Dominant Osteosclerosis 52 36
Worth's Syndrome 12 15
Hyperostosis Corticalis Generalisata, Benign Form of Worth, with Torus Palatinus 56
Hyperostosis Corticalis Generalisata, Benign Form of Worth with Torus Palatinus 52
Hyperostosis Corticalis Generalisata Benign Form of Worth with Torus Palatinus 73
Benign Form of Worth Hyperostosis Corticalis Generalisata with Torus Platinus 12
Osteosclerosis, Autosomal Dominant, Worth Type 52
Autosomal Dominant Endosteal Hyperostosis 12
Endosteal Hyperostosis Autosomal Dominant 73
Autosomal Dominant Osteosclerosis 12
Osteosclerosis Autosomal Dominant 73
Wenhy 73


Orphanet epidemiological data:

endosteal hyperostosis, worth type
Inheritance: Autosomal dominant;


autosomal dominant

onset of disease in late childhood
allelic to type i osteopetrosis , osteoporosis-pseudoglioma , type ii van buchem disease , and high bone mass


endosteal hyperostosis, autosomal dominant:
Inheritance autosomal dominant inheritance


Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis

External Ids:

Disease Ontology 12 DOID:0080037 DOID:4254
OMIM 56 144750
KEGG 36 H00450
NCIt 49 C41236
SNOMED-CT 67 254131007 49347007
ICD10 32 Q78.2
ICD10 via Orphanet 33 Q78.2
UMLS via Orphanet 72 C0432273 C2931308
Orphanet 58 ORPHA2790
MedGen 41 C0432273
UMLS 71 C0029464 C0432273

Summaries for Endosteal Hyperostosis, Autosomal Dominant

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2790 Definition Worth type autosomal dominant osteosclerosis is a sclerozing bone disorder characterized by generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture. Epidemiology The syndrome has been described in less than 10 families. Clinical description Craniofacial anomalies develop during adolescence and include a prominent forehead, wide and deep mandibles, wide nasal root, taurus palatinus and increased gonial angle. Etiology The syndrome is due to a mutation in the LRP5 gene that leads to increased bone formation. Genetic counseling Transmission is autosomal dominant. Visit the Orphanet disease page for more resources.

MalaCards based summary : Endosteal Hyperostosis, Autosomal Dominant, also known as osteosclerosis, is related to camurati-engelmann disease and osteopetrosis, autosomal dominant 2. An important gene associated with Endosteal Hyperostosis, Autosomal Dominant is LRP5 (LDL Receptor Related Protein 5), and among its related pathways/superpathways are Wnt signaling pathway and Degradation of the extracellular matrix. The drugs tipifarnib and Protein Kinase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include bone, myeloid and bone marrow, and related phenotypes are craniofacial hyperostosis and abnormal cortical bone morphology

Disease Ontology : 12 A bone remodeling disease that results in abnormal elevated bone density or mass.

OMIM : 56 Autosomal dominant endosteal hyperostosis is a generalized bone dysplasia characterized by a cortical thickening of the long bones, with no alteration in external shape, and a remarkable resistance of the bone to fracture. The skeleton is normal in childhood. Facial metamorphoses occur in adolescence, as the forehead flattens, the mandible becomes elongated, and the gonial angle decreases. An enlarging osseous prominence (torus palatinus) develops in the hard palate, which may lead to malocclusion or loss of teeth (summary by Van Wesenbeeck et al., 2003). (144750)

KEGG : 36 Worth type autosomal dominant osteosclerosis, also known as endosteal hyperostosis, is genetic disorder characterized by high bone density. Craniofacial anomalies develop during adolescence. This disease is caused by missense mutations in the LRP5, a co-receptor for Wnt.

UniProtKB/Swiss-Prot : 73 Endosteal hyperostosis, Worth type: An autosomal dominant sclerosing bone dysplasia clinically characterized by elongation of the mandible, increased gonial angle, flattened forehead, and the presence of a slowly enlarging osseous prominence of the hard palate (torus palatinus). Serum calcium, phosphorus and alkaline phosphatase levels are normal. Radiologically, it is characterized by early thickening of the endosteum of long bones, the skull and of the mandible. With advancing age, the trabeculae of the metaphysis become thickened. WENHY becomes clinically and radiologically evident by adolescence, does not cause deformity except in the skull and mandible, and is not associated with bone pain or fracture. Affected patients have normal height, proportion, intelligence and longevity.

Wikipedia : 74 Osteosclerosis is a disorder that is characterized by abnormal hardening of bone and an elevation in... more...

Related Diseases for Endosteal Hyperostosis, Autosomal Dominant

Diseases related to Endosteal Hyperostosis, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 357)
# Related Disease Score Top Affiliating Genes
1 camurati-engelmann disease 33.6 SP7 SOST LRP5 ACP5
2 osteopetrosis, autosomal dominant 2 33.3 TNFSF11 TCIRG1 LRP5 CLCN7 ACP5
3 osteopetrosis 33.1 TNFSF11 TNFRSF11B TCIRG1 OSTM1 LRP5 CTSK
4 axial osteomalacia 32.9 TCIRG1 OSTM1 LEMD3 CLCN7
5 osteopetrosis, autosomal dominant 1 32.9 LRP5 CLCN7
6 pycnodysostosis 32.8 TNFSF11 TCIRG1 SOST CTSK CLCN7 ACP5
7 van buchem disease 32.7 TNFSF11 TNFRSF11B SP7 SOST LRP5 COL1A1
8 osteopetrosis, autosomal recessive 5 32.5 TCIRG1 OSTM1 CLCN7
9 craniodiaphyseal dysplasia 32.4 TCIRG1 SOST LRP5 CLCN7
10 craniometaphyseal dysplasia, autosomal dominant 32.1 TNFSF11 TCIRG1 SP7 OSTM1 IBSP CLCN7
11 hyperparathyroidism 31.4 TNFSF11 TNFRSF11B SOST ACP5
12 primary hyperparathyroidism 31.2 TNFSF11 TNFRSF11B SOST
13 myeloma, multiple 31.1 TNFSF11 TNFRSF11B SOST CTSK ACP5
14 mammary paget's disease 31.0 TNFSF11 TNFRSF11B CTSK ACP5
15 renal osteodystrophy 30.9 TNFSF11 TNFRSF11B SOST ACP5
16 deficiency anemia 30.9 THPO BMP2 ATP4A ATP12A
17 fibrous dysplasia 30.8 TNFSF11 TNFRSF11B IBSP
18 hyperostosis 30.7 TNFRSF11B SOST LRP5 COL1A1
19 osteonecrosis 30.7 TNFSF11 TNFRSF11B LRP5 BMP2 ACP5
20 root resorption 30.7 TNFSF11 TNFRSF11B CTSK
21 osteopetrosis, autosomal recessive 1 30.6 TCIRG1 CLCN7
22 synovitis 30.6 TNFSF11 TNFRSF11B ACP5
23 renal tubular acidosis 30.5 TCIRG1 CLCN7 CA2
24 paget's disease of bone 30.5 TNFSF11 TNFRSF11B SOST IBSP ACP5
25 chronic kidney disease 30.5 TNFSF11 TNFRSF11B SOST IBSP ACP5
26 osteomyelitis 30.5 TNFSF11 CTSK BMP2 ACP5
27 osteogenic sarcoma 30.3 TNFSF11 TNFRSF11B SP7 IBSP BMP2
28 scoliosis 30.2 TNFSF11 TNFRSF11B CTSK COL1A1 ACP5
29 tooth resorption 30.2 TNFSF11 TNFRSF11B IBSP CTSK BMP2 ACP5
30 sclerosteosis 30.0 TNFSF11 TNFRSF11B SP7 SOST LRP5 CTSK
31 bone disease 30.0 TNFSF11 TNFRSF11B SP7 SOST OSTM1 LRP5
32 bone resorption disease 29.8 TNFSF11 TNFRSF11B SP7 SOST LRP5 IBSP
33 osteoporosis 29.3 TNFSF11 TNFRSF11B TCIRG1 SP7 SOST LRP5
34 distal osteosclerosis 12.4
35 osteosclerosis with ichthyosis and premature ovarian failure 12.3
36 osteomesopyknosis 12.3
37 osteosclerosis with ichthyosis and fractures 12.2
38 osteosclerosis-developmental delay-craniosynostosis syndrome 12.2
39 raine syndrome 12.1
40 craniofacial dysostosis with diaphyseal hyperplasia 12.1
41 van buchem disease, type 2 11.7
42 cote katsantoni syndrome 11.5
43 osteopoikilosis 11.4
44 melorheostosis 11.4
45 dysosteosclerosis 11.4
46 erdheim-chester disease 11.4
47 hyperostosis cranialis interna 11.2
48 lenz-majewski hyperostotic dwarfism 11.2
49 osteopathia striata with cranial sclerosis 11.2
50 osteopetrosis, autosomal dominant 3 11.2

Graphical network of the top 20 diseases related to Endosteal Hyperostosis, Autosomal Dominant:

Diseases related to Endosteal Hyperostosis, Autosomal Dominant

Symptoms & Phenotypes for Endosteal Hyperostosis, Autosomal Dominant

Human phenotypes related to Endosteal Hyperostosis, Autosomal Dominant:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 craniofacial hyperostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004493
2 abnormal cortical bone morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0003103
3 diaphyseal thickening 58 31 hallmark (90%) Very frequent (99-80%) HP:0005019
4 abnormality of the ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000772
5 generalized osteosclerosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005789
6 torus palatinus 58 31 hallmark (90%) Very frequent (99-80%) HP:0100789
7 clavicular sclerosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100923
8 abnormal form of the vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0003312
9 sclerotic vertebral body 31 frequent (33%) HP:0100861
10 mandibular prognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000303
11 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
12 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
13 facial palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0010628
14 dental malocclusion 31 HP:0000689
15 abnormality of pelvic girdle bone morphology 31 HP:0002644
16 hyperostosis 31 HP:0100774
17 vertebral body sclerosis 58 Frequent (79-30%)
18 thickened cortex of long bones 31 HP:0000935
19 flat forehead 31 HP:0004425
20 growth abnormality 31 HP:0001507
21 metacarpal diaphyseal endosteal sclerosis 31 HP:0006174
22 metatarsal diaphyseal endosteal sclerosis 31 HP:0008114

Symptoms via clinical synopsis from OMIM:

Head And Neck Mouth:
torus palatinus

Skeletal Hands:
metacarpal diaphyseal endosteal sclerosis

Head And Neck Teeth:
tooth loss

Head And Neck Ears:
hearing loss, sensorineural

Chest Ribs Sternum Clavicles And Scapulae:
mild rib sclerosis
mild clavicular sclerosis

Skeletal Skull:
elongated mandible
increased calvarial density
increased mandibular bone density
endosteal sclerosis of cranium
loss of diploe
Skeletal Pelvis:
mild sclerosis

Skeletal Limbs:
thickened cortex of long bones

Skeletal Feet:
metatarsal diaphyseal endosteal sclerosis

Growth Height:
normal height

Head And Neck Face:
flattened forehead (adolescence)

resistance of bone to fractures

Skeletal Spine:
mild vertebral body sclerosis

Clinical features from OMIM:


GenomeRNAi Phenotypes related to Endosteal Hyperostosis, Autosomal Dominant according to GeneCards Suite gene sharing:

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.68 TNFRSF11B
2 Decreased viability GR00221-A-2 9.68 TNFRSF11B
3 Decreased viability GR00240-S-1 9.68 SP7
4 Decreased viability GR00249-S 9.68 ACP5 ATP12A ATP4A CA2 CLCN7 SOST
5 Decreased viability GR00381-A-1 9.68 CTSK
6 Decreased viability GR00386-A-1 9.68 IBSP TCIRG1 THPO TNFSF11
7 Decreased viability GR00402-S-2 9.68 BMP2 CLCN7 CTSK SP7 TCIRG1 THPO

MGI Mouse Phenotypes related to Endosteal Hyperostosis, Autosomal Dominant:

# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.25 ATP12A BMP2 CA2 CLCN7 COL1A1 CRTAP
2 hematopoietic system MP:0005397 10.18 ATP4A BMP2 CLCN7 COL1A1 CTSK IBSP
3 homeostasis/metabolism MP:0005376 10.17 ATP12A ATP4A BMP2 CA2 CLCN7 COL1A1
4 craniofacial MP:0005382 10.16 BMP2 CLCN7 COL1A1 CTSK IBSP LRP5
5 immune system MP:0005387 10.1 ATP4A BMP2 CA2 CLCN7 COL1A1 CTSK
6 digestive/alimentary MP:0005381 9.98 ATP12A ATP4A BMP2 CA2 COL1A1 CTSK
7 limbs/digits/tail MP:0005371 9.93 BMP2 CLCN7 COL1A1 CTSK IBSP LRP5
8 normal MP:0002873 9.61 BMP2 CLCN7 COL1A1 IGFBP2 LRP5 SOST
9 skeleton MP:0005390 9.47 BMP2 CA2 CLCN7 COL1A1 CRTAP CTSK

Drugs & Therapeutics for Endosteal Hyperostosis, Autosomal Dominant

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

# Name Status Phase Clinical Trials Cas Number PubChem Id
tipifarnib Investigational Phase 2 192185-72-1 159324
2 Protein Kinase Inhibitors Phase 2
3 Imatinib Mesylate Phase 2 220127-57-1 123596
Bortezomib Approved, Investigational Early Phase 1 179324-69-7 387447 93860

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Prevention of Metacarpophalangeal Joints Structure Damage in Patients With Psoriatic Arthritis Using Secukinumab Not yet recruiting NCT03623867 Phase 4 Secukinumab;Placebo
2 A Phase II Study Of Gleevec (Imatinib Mesylate Formerly Known as STI-571) In Patients With Myelofibrosis Completed NCT00039416 Phase 2 imatinib mesylate
3 A Phase II Trial of R115777 in Myelofibrosis With Myeloid Metaplasia (MMM) Completed NCT00047190 Phase 2 tipifarnib
4 Open Label Phase 2 Single Agent Study of PAT-1251 in Patients With Primary Myelofibrosis (PMF), Post-Polycythemia Vera Myelofibrosis (Post-PV MF), or Post-Essential Thrombocytosis Myelofibrosis (Post-ET MF) Withdrawn NCT04054245 Phase 2 LOXL2 Inhibitor PAT-1251
5 A Prospective Open-Label Pilot Trial of PS-341 (Bortezomib; VELCADE) for the Therapy of Symptomatic Advanced Myeloproliferative Disorders Completed NCT00437086 Early Phase 1 PS-341
6 Subperiosteal Minimally Invasive Aesthetic Ridge Augmentation Technique With and Without Low Level Laser Therapy: A Comparative Clinical Trial Completed NCT04190576
7 Effects of Virtual Reality Exercises on Total Body Fat Ratio and Bone Health in Children With Acute Lymphoblastic Leukemia at Remitted Completed NCT04015882
8 Study of the Natural History, Pathogenesis and Outcome of Melorheostosis - a Rare Osteosclerotic Disease Recruiting NCT02504879
9 An Expanded Access Study of the Feasibility of Using the CliniMACS® Device for CD34+ Cell Selection and T Cell Depletion for Graft-versus-Host Disease Prophylaxis in Alternative Donor Stem Cell Transplant Recipients Available NCT01200017
11 Effects of Achieving SDAI Remission on Joint Space Outcomes Progression in Early Rheumatoid Arthritis: an HR-pQCT Study Not yet recruiting NCT04324892 Treat to target

Search NIH Clinical Center for Endosteal Hyperostosis, Autosomal Dominant

Cochrane evidence based reviews: osteosclerosis

Genetic Tests for Endosteal Hyperostosis, Autosomal Dominant

Genetic tests related to Endosteal Hyperostosis, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Worth Disease 29 LRP5

Anatomical Context for Endosteal Hyperostosis, Autosomal Dominant

MalaCards organs/tissues related to Endosteal Hyperostosis, Autosomal Dominant:

Bone, Myeloid, Bone Marrow, Cortex, Prostate, Breast, Thyroid

Publications for Endosteal Hyperostosis, Autosomal Dominant

Articles related to Endosteal Hyperostosis, Autosomal Dominant:

(show top 50) (show all 1358)
# Title Authors PMID Year
Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. 56 6 61 54
12579474 2003
Autosomal dominant osteosclerosis. 61 56
198844 1977
Autosomal dominant osteosclerosis. 61 56
198847 1977
Idiopathic osteosclerosis. A report of 6 related cases. 56 61
5635141 1968
High bone density due to a mutation in LDL-receptor-related protein 5. 6
12015390 2002
[Van Buchem disease. Maxillofacial changes, diagnostic classification and general principles of treatment]. 6
10434540 1999
Neurological involvement in Worth type endosteal hyperostosis: report of a family. 56
8030669 1994
Autosomal dominant endosteal hyperostosis. Report of a Spanish family with neurological involvement. 56
3568443 1987
Van Buchem's disease (hyperostosis corticalis generalisata) 56
181111 1976
Van Buchem's disease (hyperostosis corticalis generalisata familiaris). A case report. 56
4339940 1972
[Generalized hyperostosis corticalis (dominant transmission) (Worth's type)]. 56
4942110 1971
Hyperostosis corticalis generalisata congenita. 56
5329553 1966
Mechanisms of the anabolic effects of teriparatide on bone: insight from the treatment of a patient with pycnodysostosis. 61 54
18302508 2008
Proteasome inhibitor bortezomib impairs both myelofibrosis and osteosclerosis induced by high thrombopoietin levels in mice. 54 61
17374740 2007
Osteoporosis and osteosclerosis in sickle cell/beta-thalassemia: the role of the RANKL/osteoprotegerin axis. 54 61
16704959 2006
Osteosclerosis in advanced chronic idiopathic myelofibrosis is associated with endothelial overexpression of osteoprotegerin. 54 61
15982347 2005
An autosomal dominant high bone mass phenotype in association with craniosynostosis in an extended family is caused by an LRP5 missense mutation. 61 54
15940380 2005
Aberrant expression of transforming growth factor beta-1 (TGF beta-1) per se does not discriminate fibrotic from non-fibrotic chronic myeloproliferative disorders. 61 54
15726648 2005
Osteosclerosis in idiopathic myelofibrosis is related to the overproduction of osteoprotegerin (OPG). 61 54
15504545 2004
[Fluoride toxicity]. 61 54
15107774 2004
Characterization of common genetic variants in cathepsin K and testing for association with bone mineral density in a large cohort of perimenopausal women from Scotland. 61 54
14753734 2004
Use of site-specific antibodies to characterize the circulating form of big insulin-like growth factor II in patients with hepatitis C-associated osteosclerosis. 61 54
12161524 2002
Subcutaneous administration of insulin-like growth factor (IGF)-II/IGF binding protein-2 complex stimulates bone formation and prevents loss of bone mineral density in a rat model of disuse osteoporosis. 54 61
12162999 2002
Hyperparathyroidism and increased serum IGF-binding protein-2 levels in hepatitis C-associated osteosclerosis. 54 61
9920116 1999
[Thrombopoietin is a multifunctional factor]. 61 54
9369068 1997
A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age. 61
32337609 2020
Proximal fibular osteotomy alleviates medial compartment knee osteoarthritis in a mouse model. 61
32040598 2020
Pediatric myelofibrosis: WHO 2024 update on myeloproliferative neoplasms calling? 61
32134181 2020
A novel deletion variant in TRAPPC2 causes spondyloepiphyseal dysplasia tarda in a five-generation Chinese family. 61
32471379 2020
Idiopathic osteosclerosis mimicry of a tooth: case report. 61
32259287 2020
Bone mineral density in patients with systemic mastocytosis: correlations with clinical and histopathological features. 61
32301423 2020
Natural history of non-lethal Raine syndrome during childhood. 61
32299476 2020
Immunoproteasome Genes Are Modulated in CD34+ JAK2V617F Mutated Cells from Primary Myelofibrosis Patients. 61
32331228 2020
Successful total hip arthroplasty for autosomal dominant osteopetrosis complicated by hip osteoarthritis: A case report and review of the literature. 61
32256752 2020
Erdheim-Chester disease: a case treated with IFN-α monitored using plasma and urine cell-free DNA. 61
32290742 2020
An increased bone mineral density is an adverse prognostic factor in patients with systemic mastocytosis. 61
31980928 2020
Juvenile Paget's Disease From Heterozygous Mutation of SP7 Encoding Osterix (Specificity Protein 7, Transcription Factor SP7). 61
32298837 2020
The 2019 Revised Version of Association Research Circulation Osseous Staging System of Osteonecrosis of the Femoral Head. 61
31866252 2020
Radiological findings of denosumab treatment for giant cell tumours of bone. 61
32335707 2020
Incidental findings in a consecutive series of digital panoramic radiographs. 61
32206621 2020
Reactivation of tuberculosis following ruxolitinib therapy for primary myelofibrosis: Case series and literature review. 61
32201152 2020
Myelofibrosis biology and contemporary management. 61
32196650 2020
Adult Osteosclerotic Metaphyseal Dysplasia With Progressive Osteonecrosis of the Jaws and Abnormal Bone Resorption Pattern Due to a LRRK1 Splice Site Mutation. 61
32119750 2020
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 2020
Medication-Related Osteonecrosis of the Jaw-Comparison of Bone Imaging Using Ultrashort Echo-Time Magnetic Resonance Imaging and Cone-Beam Computed Tomography. 61
31688157 2020
Two Novel FAM20C Variants in A Family with Raine Syndrome. 61
32093234 2020
A novel homozygous LRRK1 stop gain mutation in a patient suspected with osteosclerotic metaphyseal dysplasia. 61
31571209 2020
A Rare Case of Spinal Mastocytosis Presenting as an Extradural Mass. 61
31491575 2020
Automated Osteosclerosis Grading of Clinical Biopsies Using Infrared Spectroscopic Imaging. 61
31793292 2020
Elevated levels of 15-lipoxygenase-1 contribute to the abnormal phenotypes of osteoblasts in human osteoarthritis. 61
31704449 2019

Variations for Endosteal Hyperostosis, Autosomal Dominant

ClinVar genetic disease variations for Endosteal Hyperostosis, Autosomal Dominant:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LRP5 NM_002335.4(LRP5):c.724G>A (p.Ala242Thr)SNV Pathogenic 6282 rs121908670 11:68131252-68131252 11:68363784-68363784
2 LRP5 NM_002335.4(LRP5):c.640G>A (p.Ala214Thr)SNV Pathogenic 6283 rs121908671 11:68125269-68125269 11:68357801-68357801
3 LRP5 NM_002335.4(LRP5):c.641C>T (p.Ala214Val)SNV Pathogenic 6284 rs121908672 11:68125270-68125270 11:68357802-68357802
4 LRP5 NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln)SNV Conflicting interpretations of pathogenicity 183255 rs61889560 11:68191036-68191036 11:68423568-68423568
5 LRP5 NM_002335.4(LRP5):c.1199C>T (p.Ala400Val)SNV Uncertain significance 520692 rs201320326 11:68153967-68153967 11:68386499-68386499

UniProtKB/Swiss-Prot genetic disease variations for Endosteal Hyperostosis, Autosomal Dominant:

# Symbol AA change Variation ID SNP ID
1 LRP5 p.Ala214Thr VAR_021810 rs121908671
2 LRP5 p.Ala214Val VAR_021811 rs121908672
3 LRP5 p.Ala242Thr VAR_021812 rs121908670

Expression for Endosteal Hyperostosis, Autosomal Dominant

Search GEO for disease gene expression data for Endosteal Hyperostosis, Autosomal Dominant.

Pathways for Endosteal Hyperostosis, Autosomal Dominant

Pathways related to Endosteal Hyperostosis, Autosomal Dominant according to KEGG:

# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310

GO Terms for Endosteal Hyperostosis, Autosomal Dominant

Cellular components related to Endosteal Hyperostosis, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.65 TNFSF11 TNFRSF11B THPO SOST IGFBP2 IBSP
2 lysosome GO:0005764 9.55 TCIRG1 OSTM1 CTSK CLCN7 ACP5
3 extracellular space GO:0005615 9.4 TNFSF11 TNFRSF11B THPO SOST IGFBP2 IBSP

Biological processes related to Endosteal Hyperostosis, Autosomal Dominant according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.8 TCIRG1 OSTM1 CLCN7 ATP4A ATP12A
2 response to nutrient GO:0007584 9.69 TNFRSF11B IGFBP2 COL1A1
3 response to estrogen GO:0043627 9.67 TNFRSF11B IGFBP2 CA2
4 response to mechanical stimulus GO:0009612 9.65 SOST IGFBP2 COL1A1
5 cellular sodium ion homeostasis GO:0006883 9.58 ATP4A ATP12A
6 sodium ion export across plasma membrane GO:0036376 9.57 ATP4A ATP12A
7 cellular potassium ion homeostasis GO:0030007 9.56 ATP4A ATP12A
8 osteoblast differentiation GO:0001649 9.56 SP7 IBSP COL1A1 BMP2
9 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.55 ATP4A ATP12A
10 positive regulation of osteoblast proliferation GO:0033690 9.54 LRP5 BMP2
11 osteoclast differentiation GO:0030316 9.54 TNFSF11 TCIRG1 OSTM1
12 response to pH GO:0009268 9.52 CLCN7 CA2
13 response to steroid hormone GO:0048545 9.5 IGFBP2 COL1A1 CA2
14 intramembranous ossification GO:0001957 9.46 CTSK COL1A1
15 osteoclast proliferation GO:0002158 9.43 TNFSF11 TCIRG1
16 tooth eruption GO:0044691 9.33 TNFSF11 TCIRG1 COL1A1
17 bone resorption GO:0045453 9.26 TNFSF11 TCIRG1 CTSK ACP5
18 ossification GO:0001503 9.17 TNFSF11 TCIRG1 SOST IBSP COL1A1 BMP2

Molecular functions related to Endosteal Hyperostosis, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.46 TNFSF11 TNFRSF11B THPO BMP2
2 sodium:potassium-exchanging ATPase activity GO:0005391 9.26 ATP4A ATP12A
3 potassium-transporting ATPase activity GO:0008556 8.96 ATP4A ATP12A
4 potassium:proton exchanging ATPase activity GO:0008900 8.62 ATP4A ATP12A

Sources for Endosteal Hyperostosis, Autosomal Dominant

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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