WENHY
MCID: END081
MIFTS: 59

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

Characteristics:

Orphanet epidemiological data:

58
endosteal hyperostosis, worth type
Inheritance: Autosomal dominant;

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
endosteal hyperostosis, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 144750
KEGG 36 H00450
NCIt 49 C41236
SNOMED-CT 67 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 Ion channel transport. The drugs Antibodies, Monoclonal and Immunologic Factors 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.

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...

More information from OMIM: 144750

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 362)
# Related Disease Score Top Affiliating Genes
1 camurati-engelmann disease 33.4 SP7 SOST LRP5 CLCN7 ACP5
2 osteopetrosis, autosomal dominant 2 33.1 TNFSF11 TCIRG1 OSTM1 LRP5 CLCN7 ACP5
3 melorheostosis 33.0 OSTM1 LEMD3 CLCN7
4 osteopoikilosis 33.0 OSTM1 LEMD3 CLCN7
5 osteopetrosis 33.0 TNFSF11 TNFRSF11B TCIRG1 OSTM1 LRP5 CTSK
6 pycnodysostosis 33.0 TNFSF11 TCIRG1 SOST OSTM1 CTSK CLCN7
7 osteopetrosis, autosomal dominant 1 32.9 LRP5 CLCN7
8 axial osteomalacia 32.7 TCIRG1 PTH OSTM1 LEMD3 CLCN7
9 van buchem disease 32.7 TNFSF11 TNFRSF11B SP7 SOST PTH LRP5
10 osteopetrosis, autosomal recessive 5 32.5 TCIRG1 OSTM1 CLCN7
11 craniodiaphyseal dysplasia 32.4 TCIRG1 SOST LRP5 CLCN7
12 craniometaphyseal dysplasia, autosomal dominant 31.9 TNFSF11 TNFRSF11B TCIRG1 SP7 OSTM1 IBSP
13 myelofibrosis 31.5 TNFRSF11B THPO PTH ACP5
14 hyperparathyroidism 31.2 TNFSF11 TNFRSF11B SOST PTH ACP5
15 bone inflammation disease 31.2 TNFSF11 TNFRSF11B ACP5
16 primary hyperparathyroidism 31.1 TNFSF11 TNFRSF11B SOST PTH
17 hyperostosis 31.0 TNFRSF11B SOST LRP5
18 secondary hyperparathyroidism 30.9 TNFRSF11B PTH ACP5
19 myeloma, multiple 30.8 TNFSF11 TNFRSF11B SOST PTH LRP5 CTSK
20 mammary paget's disease 30.8 TNFSF11 TNFRSF11B PTH CTSK ACP5
21 renal osteodystrophy 30.7 TNFSF11 TNFRSF11B SOST PTH ACP5
22 deficiency anemia 30.7 THPO PTH BMP2 ATP4A ATP12A
23 root resorption 30.7 TNFSF11 TNFRSF11B CTSK
24 osteopetrosis, autosomal recessive 1 30.7 TCIRG1 CLCN7
25 synovitis 30.6 TNFSF11 TNFRSF11B ACP5
26 renal tubular acidosis 30.6 TCIRG1 CLCN7 CA2
27 spondylolysis 30.5 CTSK BMP2
28 osteonecrosis 30.5 TNFSF11 TNFRSF11B PTH LRP5 BMP2 ACP5
29 chronic kidney disease 30.5 TNFSF11 TNFRSF11B SOST PTH ACP5
30 osteomyelitis 30.5 TNFSF11 CTSK BMP2 ACP5
31 paget's disease of bone 30.3 TNFSF11 TNFRSF11B SOST PTH IBSP ACP5
32 tooth resorption 30.1 TNFSF11 TNFRSF11B IBSP CTSK BMP2 ACP5
33 sclerosteosis 30.0 TNFSF11 TNFRSF11B SP7 SOST PTH LRP5
34 osteogenic sarcoma 30.0 TNFSF11 TNFRSF11B SP7 PTH IBSP BMP2
35 bone disease 29.9 TNFSF11 TNFRSF11B SP7 SOST PTH OSTM1
36 bone resorption disease 29.7 TNFSF11 TNFRSF11B SP7 SOST PTH LRP5
37 osteoporosis 29.4 TNFSF11 TNFRSF11B TCIRG1 SP7 SOST PTH
38 distal osteosclerosis 12.4
39 osteosclerosis with ichthyosis and premature ovarian failure 12.3
40 osteomesopyknosis 12.3
41 osteosclerosis with ichthyosis and fractures 12.2
42 osteosclerosis-developmental delay-craniosynostosis syndrome 12.2
43 raine syndrome 12.1
44 craniofacial dysostosis with diaphyseal hyperplasia 12.1
45 van buchem disease, type 2 11.7
46 cote katsantoni syndrome 11.5
47 dysosteosclerosis 11.4
48 erdheim-chester disease 11.4
49 hyperostosis cranialis interna 11.2
50 lenz-majewski hyperostotic dwarfism 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 generalized osteosclerosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005789
4 diaphyseal thickening 58 31 hallmark (90%) Very frequent (99-80%) HP:0005019
5 abnormality of the ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000772
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 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
11 facial palsy 58 31 occasional (7.5%) Occasional (29-5%) HP:0010628
12 mandibular prognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000303
13 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
14 dental malocclusion 31 HP:0000689
15 hyperostosis 31 HP:0100774
16 abnormality of pelvic girdle bone morphology 31 HP:0002644
17 flat forehead 31 HP:0004425
18 vertebral body sclerosis 58 Frequent (79-30%)
19 thickened cortex of long bones 31 HP:0000935
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:

56
Head And Neck Mouth:
torus palatinus

Skeletal Hands:
metacarpal diaphyseal endosteal sclerosis

Head And Neck Teeth:
malocclusion
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
more
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)

Skeletal:
resistance of bone to fractures

Skeletal Spine:
mild vertebral body sclerosis

Clinical features from OMIM:

144750

MGI Mouse Phenotypes related to Endosteal Hyperostosis, Autosomal Dominant:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.22 ATP12A BMP2 CA2 CLCN7 CTSK IBSP
2 hematopoietic system MP:0005397 10.18 ATP4A BMP2 CLCN7 CTSK IBSP IGFBP2
3 craniofacial MP:0005382 10.13 BMP2 CLCN7 CTSK IBSP LRP5 OSTM1
4 homeostasis/metabolism MP:0005376 10.13 ATP12A ATP4A BMP2 CA2 CLCN7 CTSK
5 immune system MP:0005387 10.1 ATP4A BMP2 CA2 CLCN7 CTSK IBSP
6 limbs/digits/tail MP:0005371 9.93 BMP2 CLCN7 CTSK IBSP LRP5 OSTM1
7 normal MP:0002873 9.56 BMP2 CLCN7 IGFBP2 LRP5 SOST SP7
8 skeleton MP:0005390 9.44 BMP2 CA2 CLCN7 CTSK IBSP LRP5

Drugs & Therapeutics for Endosteal Hyperostosis, Autosomal Dominant

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

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Antibodies, Monoclonal Phase 4
2 Immunologic Factors Phase 4
3 Antibodies Phase 4
4 Immunoglobulins Phase 4
5
tipifarnib Investigational Phase 2 192185-72-1 159324
6 Protein Kinase Inhibitors Phase 2
7 Imatinib Mesylate Phase 2 220127-57-1 123596
8
Bortezomib Approved, Investigational Early Phase 1 179324-69-7 387447 93860

Interventional clinical trials:


# 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 Study of the Natural History, Pathogenesis and Outcome of Melorheostosis - a Rare Osteosclerotic Disease Recruiting NCT02504879
8 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
9 Prf Controlled,Randamized Cinical Trial of EFFECTS OF THE PLATELET-RICH FIBRIN (PRF) ON BONE DENSITY IN IMMEDIATE IMPLANT PLACEMENT AND LOADING IN ESTHETIC ZONE Not yet recruiting NCT03626779
10 Effects of Virtual Reality Exercises on Total Body Fat Ratio and Bone Health in Children With Acute Lymphoblastic Leukemia at Remitted Not yet recruiting NCT04015882

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:

40
Bone, Myeloid, Bone Marrow, Cortex, Prostate, Breast, Kidney

Publications for Endosteal Hyperostosis, Autosomal Dominant

Articles related to Endosteal Hyperostosis, Autosomal Dominant:

(show top 50) (show all 1341)
# Title Authors PMID Year
1
Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. 54 61 56 6
12579474 2003
2
Autosomal dominant osteosclerosis. 61 56
198844 1977
3
Autosomal dominant osteosclerosis. 61 56
198847 1977
4
Idiopathic osteosclerosis. A report of 6 related cases. 61 56
5635141 1968
5
High bone density due to a mutation in LDL-receptor-related protein 5. 6
12015390 2002
6
[Van Buchem disease. Maxillofacial changes, diagnostic classification and general principles of treatment]. 6
10434540 1999
7
Neurological involvement in Worth type endosteal hyperostosis: report of a family. 56
8030669 1994
8
Autosomal dominant endosteal hyperostosis. Report of a Spanish family with neurological involvement. 56
3568443 1987
9
Van Buchem's disease (hyperostosis corticalis generalisata) 56
181111 1976
10
Van Buchem's disease (hyperostosis corticalis generalisata familiaris). A case report. 56
4339940 1972
11
[Generalized hyperostosis corticalis (dominant transmission) (Worth's type)]. 56
4942110 1971
12
Hyperostosis corticalis generalisata congenita. 56
5329553 1966
13
Mechanisms of the anabolic effects of teriparatide on bone: insight from the treatment of a patient with pycnodysostosis. 54 61
18302508 2008
14
Proteasome inhibitor bortezomib impairs both myelofibrosis and osteosclerosis induced by high thrombopoietin levels in mice. 54 61
17374740 2007
15
Osteoporosis and osteosclerosis in sickle cell/beta-thalassemia: the role of the RANKL/osteoprotegerin axis. 54 61
16704959 2006
16
Osteosclerosis in advanced chronic idiopathic myelofibrosis is associated with endothelial overexpression of osteoprotegerin. 54 61
15982347 2005
17
An autosomal dominant high bone mass phenotype in association with craniosynostosis in an extended family is caused by an LRP5 missense mutation. 54 61
15940380 2005
18
Aberrant expression of transforming growth factor beta-1 (TGF beta-1) per se does not discriminate fibrotic from non-fibrotic chronic myeloproliferative disorders. 54 61
15726648 2005
19
Osteosclerosis in idiopathic myelofibrosis is related to the overproduction of osteoprotegerin (OPG). 54 61
15504545 2004
20
[Fluoride toxicity]. 54 61
15107774 2004
21
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. 54 61
14753734 2004
22
Use of site-specific antibodies to characterize the circulating form of big insulin-like growth factor II in patients with hepatitis C-associated osteosclerosis. 54 61
12161524 2002
23
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
24
Hyperparathyroidism and increased serum IGF-binding protein-2 levels in hepatitis C-associated osteosclerosis. 54 61
9920116 1999
25
[Thrombopoietin is a multifunctional factor]. 54 61
9369068 1997
26
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
27
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
28
Automated Osteosclerosis Grading of Clinical Biopsies Using Infrared Spectroscopic Imaging. 61
31793292 2020
29
A novel homozygous LRRK1 stop gain mutation in a patient suspected with osteosclerotic metaphyseal dysplasia. 61
31571209 2020
30
A Rare Case of Spinal Mastocytosis Presenting as an Extradural Mass. 61
31491575 2020
31
An increased bone mineral density is an adverse prognostic factor in patients with systemic mastocytosis. 61
31980928 2020
32
Elevated levels of 15-lipoxygenase-1 contribute to the abnormal phenotypes of osteoblasts in human osteoarthritis. 61
31704449 2019
33
Computed tomography imaging characteristics help to differentiate pyogenic spondylitis from brucellar spondylitis. 61
31754822 2019
34
Non-lethal Raine Syndrome in a Middle-Aged Woman Caused by a Novel FAM20C Mutation. 61
31471673 2019
35
The 2019 Revised Version of Association Research Circulation Osseous Staging System of Osteonecrosis of the Femoral Head. 61
31866252 2019
36
TNFRSF11A-Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic Spectrum. 61
31163101 2019
37
Microstructure of Vertebrae, Ribs, and Gastralia of Triassic Sauropterygians-New Insights into the Microanatomical Processes Involved in Aquatic Adaptations of Marine Reptiles. 61
30989828 2019
38
Evaluation criteria for the assessment of occupational diseases of the lumbar spine - how reliable are they? 61
31656177 2019
39
Osteonecrosis of the Upper Extremity: MRI-Based Zonal Patterns and Differential Diagnosis. 61
31556087 2019
40
Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review. 61
31237352 2019
41
New explanation for autosomal dominant high bone mass: Mutation of low-density lipoprotein receptor-related protein 6. 61
31085352 2019
42
Hindrance of tooth eruption and orthodontic tooth movement by focal idiopathic osteosclerosis in the mandible. 61
31528265 2019
43
A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome. 61
31297960 2019
44
Pseudomyogenic hemangioendothelioma of bone treated with denosumab: a case report. 61
31481040 2019
45
Clinical significance of periosteal reaction as a predictive factor for treatment outcome of medication-related osteonecrosis of the jaw. 61
30830278 2019
46
Evidence of Skeletal Fluorosis at the Ray Site, Illinois, USA: a pathological assessment and discussion of environmental factors. 61
31228793 2019
47
Spindle cell rhabdomyosarcoma in a lumbar vertebra with FUS-TFCP2 fusion. 61
30948206 2019
48
Primary myelofibrosis: spectrum of imaging features and disease-related complications. 61
31388788 2019
49
Diffuse osteosclerosis as a presentation of recurrent breast cancer: role of endothelin 1. 61
31079185 2019
50
Regulation of Osteosclerosis by Inoculated Cd133+ PC3 Cells in Bone-marrow Microenvironmental Niches. 61
31372592 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:

73
# 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:

36
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.3 TCIRG1 OSTM1 CLCN7 ATP4A ATP12A
2
Show member pathways
12.16 TNFSF11 TNFRSF11B CTSK ACP5
3 11.78 TNFSF11 TNFRSF11B CTSK ACP5
4 11.65 TNFSF11 SOST PTH LRP5
5 11.52 TNFSF11 TCIRG1 PTH CTSK ACP5
6 11.21 TNFSF11 TNFRSF11B PTH CA2
7 11.2 TNFSF11 PTH IBSP
8 10.46 TNFSF11 TNFRSF11B CTSK ACP5
9 10.07 TNFSF11 TNFRSF11B PTH IBSP

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 9.61 TNFSF11 TNFRSF11B THPO SOST PTH IGFBP2
2 extracellular space GO:0005615 9.36 TNFSF11 TNFRSF11B THPO SOST PTH IGFBP2

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 osteoblast differentiation GO:0001649 9.71 SP7 IBSP BMP2
2 ion transmembrane transport GO:0034220 9.65 TCIRG1 OSTM1 CLCN7 ATP4A ATP12A
3 response to estrogen GO:0043627 9.58 TNFRSF11B IGFBP2 CA2
4 cellular sodium ion homeostasis GO:0006883 9.52 ATP4A ATP12A
5 positive regulation of ossification GO:0045778 9.51 PTH BMP2
6 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.49 ATP4A ATP12A
7 sodium ion export across plasma membrane GO:0036376 9.48 ATP4A ATP12A
8 cellular potassium ion homeostasis GO:0030007 9.46 ATP4A ATP12A
9 response to pH GO:0009268 9.43 CLCN7 CA2
10 tooth eruption GO:0044691 9.37 TNFSF11 TCIRG1
11 ossification GO:0001503 9.35 TNFSF11 TCIRG1 SOST BMP2 ACP5
12 osteoclast differentiation GO:0030316 9.33 TNFSF11 TCIRG1 OSTM1
13 osteoclast proliferation GO:0002158 9.32 TNFSF11 TCIRG1
14 bone resorption GO:0045453 9.02 TNFSF11 TCIRG1 PTH CTSK ACP5

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

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
Content
Loading form....