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 57
Osteosclerosis 57 12 75 55 44 15 72
Worth Syndrome 12 75 59 74
Hyperostosis, Endosteal 57 13 40
Worth Disease 29 6 72
Osteosclerosis, Autosomal Dominant 57 55
Endosteal Hyperostosis, Worth Type 59 74
Worth's Syndrome 12 15
Hyperostosis Corticalis Generalisata, Benign Form of Worth, with Torus Palatinus 57
Hyperostosis Corticalis Generalisata Benign Form of Worth with Torus Palatinus 74
Benign Form of Worth Hyperostosis Corticalis Generalisata with Torus Platinus 12
Autosomal Dominant Osteosclerosis, Worth Type 59
Autosomal Dominant Endosteal Hyperostosis 12
Endosteal Hyperostosis Autosomal Dominant 74
Autosomal Dominant Osteosclerosis 12
Osteosclerosis Autosomal Dominant 74
Wenhy 74

Characteristics:

Orphanet epidemiological data:

59
endosteal hyperostosis, worth type
Inheritance: Autosomal dominant;

OMIM:

57
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:

32
endosteal hyperostosis, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080037 DOID:4254
OMIM 57 144750
NCIt 50 C41236
SNOMED-CT 68 49347007
ICD10 33 Q78.2
ICD10 via Orphanet 34 Q78.2
UMLS via Orphanet 73 C0432273 C2931308
Orphanet 59 ORPHA2790
MedGen 42 C0432273
UMLS 72 C0029464 C0432273

Summaries for Endosteal Hyperostosis, Autosomal Dominant

UniProtKB/Swiss-Prot : 74 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.

MalaCards based summary : Endosteal Hyperostosis, Autosomal Dominant, also known as osteosclerosis, is related to pycnodysostosis 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 Ion channel transport and Lysosome. The drugs Antibodies 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.

Wikipedia : 75 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 264)
# Related Disease Score Top Affiliating Genes
1 pycnodysostosis 32.7 CTSK CLCN7
2 osteopetrosis, autosomal dominant 2 32.5 TNFSF11 TCIRG1 LRP5 CTSK CLCN7
3 osteopathia striata with cranial sclerosis 32.2 TNFRSF11B LRP5 AMER1
4 bone inflammation disease 31.1 TNFSF11 TNFRSF11B CTSK
5 osteonecrosis 30.6 TNFSF11 TNFRSF11B BMP2
6 bone resorption disease 30.4 TNFSF11 TNFRSF11B LRP5 CTSK BMP2
7 root resorption 30.4 TNFSF11 TNFRSF11B CTSK
8 osteomyelitis 30.3 TNFSF11 CTSK BMP2
9 paget's disease of bone 30.1 TNFSF11 TNFRSF11B CSF1
10 tooth resorption 30.0 TNFSF11 TNFRSF11B CTSK BMP2
11 bone disease 29.3 TNFSF11 TNFRSF11B OSTM1 LRP5 CTSK CSF1
12 osteopetrosis 28.9 TNFSF11 TCIRG1 SNX10 PLEKHM1 OSTM1 LRP5
13 osteoporosis 28.9 TNFSF11 TNFRSF11B LRP5 CTSK CSF1 CA2
14 osteomesopyknosis 12.4
15 distal osteosclerosis 12.4
16 osteosclerosis with ichthyosis and premature ovarian failure 12.3
17 osteosclerosis with ichthyosis and fractures 12.2
18 osteosclerosis-developmental delay-craniosynostosis syndrome 12.2
19 raine syndrome 12.1
20 camurati-engelmann disease 11.9
21 craniofacial dysostosis with diaphyseal hyperplasia 11.8
22 van buchem disease, type 2 11.7
23 worth type autosomal dominant osteosclerosis 11.6
24 van buchem disease 11.5
25 cote katsantoni syndrome 11.5
26 osteopoikilosis 11.4
27 melorheostosis 11.4
28 dysosteosclerosis 11.4
29 axial osteomalacia 11.4
30 erdheim-chester disease 11.4
31 osteopetrosis, autosomal dominant 1 11.3
32 hyperostosis cranialis interna 11.2
33 lenz-majewski hyperostotic dwarfism 11.2
34 osteopetrosis, autosomal dominant 3 11.2
35 robinow syndrome 11.2
36 achondroplasia 11.1
37 foix-alajouanine syndrome 11.1
38 craniometaphyseal dysplasia, autosomal dominant 11.1
39 dentin dysplasia with sclerotic bones 11.1
40 craniodiaphyseal dysplasia 11.1
41 osteopetrosis, autosomal recessive 5 11.1
42 osteosclerotic metaphyseal dysplasia 11.1
43 robinow syndrome, autosomal dominant 2 11.1
44 kenny-caffey syndrome 11.1
45 polyarticular onset juvenile idiopathic arthritis 10.6 TNFSF11 TNFRSF11B
46 myelofibrosis 10.6
47 hemophilic arthropathy 10.6 TNFSF11 TNFRSF11B
48 tooth ankylosis 10.5 TNFSF11 BMP2
49 kummell's disease 10.5 TNFSF11 TNFRSF11B
50 chronic apical periodontitis 10.5 TNFSF11 TNFRSF11B

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:

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 craniofacial hyperostosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0004493
2 abnormal cortical bone morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0003103
3 generalized osteosclerosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0005789
4 diaphyseal thickening 59 32 hallmark (90%) Very frequent (99-80%) HP:0005019
5 abnormality of the ribs 59 32 hallmark (90%) Very frequent (99-80%) HP:0000772
6 torus palatinus 59 32 hallmark (90%) Very frequent (99-80%) HP:0100789
7 clavicular sclerosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100923
8 abnormal form of the vertebral bodies 59 32 frequent (33%) Frequent (79-30%) HP:0003312
9 sclerotic vertebral body 32 frequent (33%) HP:0100861
10 nystagmus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000639
11 facial palsy 59 32 occasional (7.5%) Occasional (29-5%) HP:0010628
12 mandibular prognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000303
13 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
14 dental malocclusion 32 HP:0000689
15 hyperostosis 32 HP:0100774
16 abnormality of pelvic girdle bone morphology 32 HP:0002644
17 flat forehead 32 HP:0004425
18 vertebral body sclerosis 59 Frequent (79-30%)
19 thickened cortex of long bones 32 HP:0000935
20 growth abnormality 32 HP:0001507
21 metacarpal diaphyseal endosteal sclerosis 32 HP:0006174
22 metatarsal diaphyseal endosteal sclerosis 32 HP:0008114

Symptoms via clinical synopsis from OMIM:

57
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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with imatinib mesylate GR00181-A 8.8 CA2 PLEKHM1 SNX10

MGI Mouse Phenotypes related to Endosteal Hyperostosis, Autosomal Dominant:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.26 AMER1 BMP2 CLCN7 CSF1 CTSK IGF2
2 growth/size/body region MP:0005378 10.25 AMER1 BMP2 CA2 CLCN7 CSF1 CTSK
3 hematopoietic system MP:0005397 10.25 AMER1 BMP2 CLCN7 CSF1 CTSK IGF2
4 cellular MP:0005384 10.24 AMER1 BMP2 CLCN7 CSF1 CTSK IGF2
5 immune system MP:0005387 10.2 AMER1 BMP2 CA2 CLCN7 CSF1 CTSK
6 homeostasis/metabolism MP:0005376 10.18 AMER1 BMP2 CA2 CLCN7 CSF1 CTSK
7 endocrine/exocrine gland MP:0005379 10.06 CA2 CSF1 CTSK IGF2 LRP5 SNX10
8 limbs/digits/tail MP:0005371 10.03 AMER1 BMP2 CLCN7 CSF1 CTSK IGF2
9 mortality/aging MP:0010768 9.97 AMER1 BMP2 CA2 CLCN7 CSF1 IGF2
10 skeleton MP:0005390 9.47 AMER1 BMP2 CA2 CLCN7 CSF1 CTSK
11 respiratory system MP:0005388 9.43 CA2 CLCN7 CSF1 CTSK IGF2 TNFSF11

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 Phase 4
2 Immunologic Factors Phase 4
3 Antibodies, Monoclonal Phase 4
4 Immunoglobulins Phase 4
5
tipifarnib Investigational Phase 2 192185-72-1 159324
6 Imatinib Mesylate Phase 2 220127-57-1 123596
7 Protein Kinase Inhibitors Phase 2
8
Bortezomib Approved, Investigational Early Phase 1 179324-69-7 93860 387447

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 Study of the Natural History, Pathogenesis and Outcome of Melorheostosis - a Rare Osteosclerotic Disease Recruiting NCT02504879
7 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
8 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
9 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:

41
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 1327)
# 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. 9 38 8 71
12579474 2003
2
Autosomal dominant osteosclerosis. 38 8
198844 1977
3
Autosomal dominant osteosclerosis. 38 8
198847 1977
4
Idiopathic osteosclerosis. A report of 6 related cases. 38 8
5635141 1968
5
High bone density due to a mutation in LDL-receptor-related protein 5. 71
12015390 2002
6
[Van Buchem disease. Maxillofacial changes, diagnostic classification and general principles of treatment]. 71
10434540 1999
7
Neurological involvement in Worth type endosteal hyperostosis: report of a family. 8
8030669 1994
8
Autosomal dominant endosteal hyperostosis. Report of a Spanish family with neurological involvement. 8
3568443 1987
9
Van Buchem's disease (hyperostosis corticalis generalisata) 8
181111 1976
10
Van Buchem's disease (hyperostosis corticalis generalisata familiaris). A case report. 8
4339940 1972
11
[Generalized hyperostosis corticalis (dominant transmission) (Worth's type)]. 8
4942110 1971
12
Hyperostosis corticalis generalisata congenita. 8
5329553 1966
13
Mechanisms of the anabolic effects of teriparatide on bone: insight from the treatment of a patient with pycnodysostosis. 9 38
18302508 2008
14
Proteasome inhibitor bortezomib impairs both myelofibrosis and osteosclerosis induced by high thrombopoietin levels in mice. 9 38
17374740 2007
15
Osteoporosis and osteosclerosis in sickle cell/beta-thalassemia: the role of the RANKL/osteoprotegerin axis. 9 38
16704959 2006
16
Osteosclerosis in advanced chronic idiopathic myelofibrosis is associated with endothelial overexpression of osteoprotegerin. 9 38
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. 9 38
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. 9 38
15726648 2005
19
Osteosclerosis in idiopathic myelofibrosis is related to the overproduction of osteoprotegerin (OPG). 9 38
15504545 2004
20
[Fluoride toxicity]. 9 38
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. 9 38
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. 9 38
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. 9 38
12162999 2002
24
Hyperparathyroidism and increased serum IGF-binding protein-2 levels in hepatitis C-associated osteosclerosis. 9 38
9920116 1999
25
[Thrombopoietin is a multifunctional factor]. 9 38
9369068 1997
26
Evidence of Skeletal Fluorosis at the Ray Site, Illinois, USA: a pathological assessment and discussion of environmental factors. 38
31228793 2019
27
A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome. 38
31297960 2019
28
Primary myelofibrosis: spectrum of imaging features and disease-related complications. 38
31388788 2019
29
Spindle cell rhabdomyosarcoma in a lumbar vertebra with FUS-TFCP2 fusion. 38
30948206 2019
30
Diffuse osteosclerosis as a presentation of recurrent breast cancer: role of endothelin 1. 38
31079185 2019
31
Regulation of Osteosclerosis by Inoculated Cd133+ PC3 Cells in Bone-marrow Microenvironmental Niches. 38
31372592 2019
32
Subpontic Osseous Hyperplasia: Comprehensive Review of the Literature and Presentation of New Case History. 38
31283810 2019
33
TNFRSF11A-Associated Dysosteosclerosis: A Report of the Second Case and Characterization of the Phenotypic Spectrum. 38
31163101 2019
34
The effect of ultraviolet photofunctionalization of titanium instrumentation in lumbar fusion: a non-randomized controlled trial. 38
31208382 2019
35
Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review. 38
31237352 2019
36
Congenital lipodystrophy induces severe osteosclerosis. 38
31233501 2019
37
Observations on the Natural History of Camurati-Engelmann Disease. 38
30690794 2019
38
Intra-medullary osteosclerosis of the tibia in children. 38
30975636 2019
39
Evaluation of mandibular calcification on 3D volume images. 38
31193452 2019
40
Osteocyte TSC1 promotes sclerostin secretion to restrain osteogenesis in mice. 38
31088250 2019
41
Myelofibrosis osteoclasts are clonal and functionally impaired. 38
30745304 2019
42
Total clavicle reconstruction with free peroneal graft for the surgical management of chronic nonbacterial osteomyelitis of the clavicle: a case report. 38
31084601 2019
43
New explanation for autosomal dominant high bone mass: Mutation of low-density lipoprotein receptor-related protein 6. 38
31085352 2019
44
Mesenchymal stem cells in myeloproliferative disorders - focus on primary myelofibrosis. 38
30277128 2019
45
[Effect of sclerostin on the functions and related mechanisms of cementoblasts under mechanical stress]. 38
31168982 2019
46
Microstructure of Vertebrae, Ribs, and Gastralia of Triassic Sauropterygians-New Insights into the Microanatomical Processes Involved in Aquatic Adaptations of Marine Reptiles. 38
30989828 2019
47
Vitamin D receptor-mediated skewed differentiation of macrophages initiates myelofibrosis and subsequent osteosclerosis. 38
30718230 2019
48
A novel FAM20C mutation causing hypophosphatemic osteomalacia with osteosclerosis (mild Raine syndrome) in an elderly man with spontaneous osteonecrosis of the knee. 38
30151622 2019
49
Clinical significance of periosteal reaction as a predictive factor for treatment outcome of medication-related osteonecrosis of the jaw. 38
30830278 2019
50
Singular case of osteolytic lesions revealing transformation of myeloproliferative syndrome to acute leukemia. 38
30471421 2019

Variations for Endosteal Hyperostosis, Autosomal Dominant

ClinVar genetic disease variations for Endosteal Hyperostosis, Autosomal Dominant:

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

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

74
# 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

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 space GO:0005615 9.76 TNFSF11 TNFRSF11B THPO IGF2 CTSK CSF1
2 endosome membrane GO:0010008 9.56 TCIRG1 SNX10 PLEKHM1 ATP6V0A2
3 vacuolar proton-transporting V-type ATPase complex GO:0016471 9.37 TCIRG1 ATP6V0A2
4 proton-transporting V-type ATPase, V0 domain GO:0033179 9.32 TCIRG1 ATP6V0A2
5 lysosomal membrane GO:0005765 9.02 TCIRG1 PLEKHM1 OSTM1 CLCN7 ATP6V0A2
6 vacuolar proton-transporting V-type ATPase, V0 domain GO:0000220 8.96 TCIRG1 ATP6V0A2

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.83 THPO TCIRG1 LRP5 IGF2 CSF1
2 positive regulation of protein kinase B signaling GO:0051897 9.74 TNFSF11 THPO IGF2
3 skeletal system development GO:0001501 9.71 TNFRSF11B IGF2 BMP2
4 animal organ morphogenesis GO:0009887 9.7 TNFSF11 IGF2 BMP2
5 ossification GO:0001503 9.65 TNFSF11 IGF2 BMP2
6 ATP hydrolysis coupled proton transport GO:0015991 9.58 TCIRG1 ATP6V0A2
7 adipose tissue development GO:0060612 9.58 LRP5 AMER1
8 insulin receptor signaling pathway GO:0008286 9.58 TCIRG1 IGF2 ATP6V0A2
9 positive regulation of mitotic nuclear division GO:0045840 9.56 LRP5 IGF2
10 calcium ion homeostasis GO:0055074 9.55 TNFSF11 SNX10
11 vacuolar acidification GO:0007035 9.51 TCIRG1 ATP6V0A2
12 branching involved in mammary gland duct morphogenesis GO:0060444 9.49 LRP5 CSF1
13 response to pH GO:0009268 9.46 CLCN7 CA2
14 bone resorption GO:0045453 9.43 TNFSF11 SNX10 CTSK
15 tooth eruption GO:0044691 9.37 TNFSF11 SNX10
16 positive regulation of osteoclast differentiation GO:0045672 9.33 TNFSF11 CSF1 CA2
17 osteoclast proliferation GO:0002158 9.32 TNFSF11 CSF1
18 positive regulation of bone resorption GO:0045780 9.13 TNFSF11 PLEKHM1 CA2
19 osteoclast differentiation GO:0030316 8.92 TNFSF11 SNX10 OSTM1 CSF1

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

# Name GO ID Score Top Affiliating Genes
1 ATPase binding GO:0051117 9.33 TCIRG1 SNX10 ATP6V0A2
2 proton-transporting ATPase activity, rotational mechanism GO:0046961 9.26 TCIRG1 ATP6V0A2
3 growth factor activity GO:0008083 9.26 THPO IGF2 CSF1 BMP2
4 cytokine activity GO:0005125 9.02 TNFSF11 TNFRSF11B THPO CSF1 BMP2

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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