WENHY
MCID: END081
MIFTS: 56

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 58
Osteosclerosis 58 12 77 56 45 15 74
Worth Syndrome 12 77 60 76
Hyperostosis, Endosteal 58 13 41
Worth Disease 30 6 74
Osteosclerosis, Autosomal Dominant 58 56
Endosteal Hyperostosis, Worth Type 60 76
Worth's Syndrome 12 15
Hyperostosis Corticalis Generalisata, Benign Form of Worth, with Torus Palatinus 58
Hyperostosis Corticalis Generalisata Benign Form of Worth with Torus Palatinus 76
Benign Form of Worth Hyperostosis Corticalis Generalisata with Torus Platinus 12
Autosomal Dominant Osteosclerosis, Worth Type 60
Autosomal Dominant Endosteal Hyperostosis 12
Endosteal Hyperostosis Autosomal Dominant 76
Autosomal Dominant Osteosclerosis 12
Osteosclerosis Autosomal Dominant 76
Wenhy 76

Characteristics:

Orphanet epidemiological data:

60
endosteal hyperostosis, worth type
Inheritance: Autosomal dominant;

OMIM:

58
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:

33
endosteal hyperostosis, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080037 DOID:4254
OMIM 58 144750
NCIt 51 C41236
SNOMED-CT 69 49347007
ICD10 34 Q78.2
ICD10 via Orphanet 35 Q78.2
UMLS via Orphanet 75 C0432273 C2931308
Orphanet 60 ORPHA2790
MedGen 43 C0432273

Summaries for Endosteal Hyperostosis, Autosomal Dominant

UniProtKB/Swiss-Prot : 76 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 osteopetrosis, autosomal dominant 2 and pycnodysostosis. 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. Affiliated tissues include bone, cortex and prostate, 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 : 77 Osteosclerosis is a disorder that is characterized by abnormal hardening of bone and an elevation in... more...

Description 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 156)
# Related Disease Score Top Affiliating Genes
1 osteopetrosis, autosomal dominant 2 32.4 CLCN7 CTSK LRP5 TCIRG1 TNFSF11
2 pycnodysostosis 31.8 CLCN7 CTSK
3 osteopathia striata with cranial sclerosis 31.6 AMER1 LRP5 TNFRSF11B
4 bone inflammation disease 30.7 CTSK TNFRSF11B TNFSF11
5 osteopetrosis 30.6 CA2 CLCN7 CSF1 CTSK LRP5 OSTM1
6 osteonecrosis 30.1 BMP2 TNFRSF11B TNFSF11
7 bone disease 29.5 CLCN7 CSF1 CTSK LRP5 OSTM1 TNFRSF11B
8 osteoporosis 29.3 BMP2 CA2 CSF1 CTSK LRP5 TNFRSF11B
9 osteomesopyknosis 12.3
10 distal osteosclerosis 12.3
11 osteosclerosis with ichthyosis and premature ovarian failure 12.2
12 osteosclerosis with ichthyosis and fractures 12.0
13 osteosclerosis abnormalities of nervous system and meninges 12.0
14 osteosclerosis-developmental delay-craniosynostosis syndrome 12.0
15 raine syndrome 12.0
16 camurati-engelmann disease 11.6
17 van buchem disease, type 2 11.6
18 worth type autosomal dominant osteosclerosis 11.5
19 cote katsantoni syndrome 11.3
20 foix-alajouanine syndrome 11.3
21 craniofacial dysostosis with diaphyseal hyperplasia 11.3
22 osteopoikilosis 11.3
23 dysosteosclerosis 11.3
24 melorheostosis 11.3
25 osteopetrosis, autosomal dominant 1 11.2
26 hyperostosis cranialis interna 11.1
27 osteopetrosis, autosomal dominant 3 11.1
28 van buchem disease 11.1
29 robinow syndrome 11.1
30 achondroplasia 11.0
31 axial osteomalacia 11.0
32 craniometaphyseal dysplasia, autosomal dominant 11.0
33 dentin dysplasia with sclerotic bones 11.0
34 lenz-majewski hyperostotic dwarfism 11.0
35 craniodiaphyseal dysplasia 11.0
36 osteopetrosis, autosomal recessive 5 11.0
37 osteosclerotic metaphyseal dysplasia 11.0
38 robinow syndrome, autosomal dominant 2 11.0
39 hepatitis 10.5
40 hepatitis c 10.5
41 myelofibrosis 10.5
42 hyperparathyroidism 10.4
43 polyarticular onset juvenile idiopathic arthritis 10.4 TNFRSF11B TNFSF11
44 hemophilic arthropathy 10.3 TNFRSF11B TNFSF11
45 tooth ankylosis 10.3 BMP2 TNFSF11
46 leukemia 10.3
47 kummell's disease 10.3 TNFRSF11B TNFSF11
48 paget disease of bone 5, juvenile-onset 10.3 TNFRSF11B TNFSF11
49 periodontitis, chronic 10.3 TNFRSF11B TNFSF11
50 chronic apical periodontitis 10.3 TNFRSF11B TNFSF11

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:

60 33 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 craniofacial hyperostosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0004493
2 abnormal cortical bone morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0003103
3 generalized osteosclerosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0005789
4 diaphyseal thickening 60 33 hallmark (90%) Very frequent (99-80%) HP:0005019
5 abnormality of the ribs 60 33 hallmark (90%) Very frequent (99-80%) HP:0000772
6 torus palatinus 60 33 hallmark (90%) Very frequent (99-80%) HP:0100789
7 clavicular sclerosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0100923
8 abnormal form of the vertebral bodies 60 33 frequent (33%) Frequent (79-30%) HP:0003312
9 sclerotic vertebral body 33 frequent (33%) HP:0100861
10 nystagmus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000639
11 facial palsy 60 33 occasional (7.5%) Occasional (29-5%) HP:0010628
12 mandibular prognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000303
13 sensorineural hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000407
14 dental malocclusion 33 HP:0000689
15 hyperostosis 33 HP:0100774
16 abnormality of pelvic girdle bone morphology 33 HP:0002644
17 flat forehead 33 HP:0004425
18 vertebral body sclerosis 60 Frequent (79-30%)
19 thickened cortex of long bones 33 HP:0000935
20 metacarpal diaphyseal endosteal sclerosis 33 HP:0006174
21 metatarsal diaphyseal endosteal sclerosis 33 HP:0008114
22 growth abnormality 33 HP:0001507

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Mouth:
torus palatinus

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 Feet:
metatarsal diaphyseal endosteal sclerosis

Skeletal Limbs:
thickened cortex of long bones

Growth Height:
normal height

Head And Neck Face:
flattened forehead (adolescence)

Skeletal:
resistance of bone to fractures

Skeletal Spine:
mild vertebral body sclerosis

Skeletal Hands:
metacarpal diaphyseal endosteal sclerosis

Clinical features from OMIM:

144750

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

27
# 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:

47 (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

Search Clinical Trials , 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 30 LRP5

Anatomical Context for Endosteal Hyperostosis, Autosomal Dominant

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

42
Bone, Cortex, Prostate, Myeloid, Bone Marrow, Lymph Node, Spleen

Publications for Endosteal Hyperostosis, Autosomal Dominant

Articles related to Endosteal Hyperostosis, Autosomal Dominant:

(show top 50) (show all 294)
# Title Authors Year
1
Diffuse osteosclerosis as a presentation of recurrent breast cancer: role of endothelin 1. ( 31079185 )
2019
2
A novel FAM20C mutation causing hypophosphatemic osteomalacia with osteosclerosis (mild Raine syndrome) in an elderly man with spontaneous osteonecrosis of the knee. ( 30151622 )
2019
3
Idiopathic osteosclerosis in the maxillomandibular area. ( 30244367 )
2019
4
Intra-medullary osteosclerosis of the tibia in children. ( 30975636 )
2019
5
Vitamin D receptor-mediated skewed differentiation of macrophages initiates myelofibrosis and subsequent osteosclerosis. ( 30718230 )
2019
6
Brown Tumour in the Mandible and Skull Osteosclerosis Associated with Primary Hyperparathyroidism - A Case Report. ( 29531614 )
2018
7
Hyperparathyroidism-induced osteosclerosis mimicking diffuse osteo-medullary metastases on 18F-FDG PET/CT: The role of the «rugger jersey» spine sign. ( 28456414 )
2018
8
Prevalence and morphometric analysis of idiopathic osteosclerosis in a Chilean population. ( 28933800 )
2018
9
A case of multiple myeloma presenting with diffuse osteosclerosis and multiple bone infarcts. ( 29233690 )
2018
10
Cross-sectional study on the prevalence of carotid artery calcifications, tonsilloliths, calcified submandibular lymph nodes, sialoliths of the submandibular gland, and idiopathic osteosclerosis using digital panoramic radiography in a Lower Austrian subpopulation. ( 29363679 )
2018
11
Unique Variant of NOD2 Pediatric Granulomatous Arthritis With Severe 1,25-Dihydroxyvitamin D-Mediated Hypercalcemia and Generalized Osteosclerosis. ( 29933504 )
2018
12
The Pathology of Type II Modic Changes: Fat Deposition or Osteosclerosis? A Study Using CT Scan. ( 29967778 )
2018
13
Worth syndrome "mandibular osteosclerosis" as an incidental finding: a report of 2 cases. ( 30028190 )
2018
14
Prognostic significance of a comprehensive histological evaluation of reticulin fibrosis, collagen deposition and osteosclerosis in primary myelofibrosis patients. ( 28710830 )
2017
15
Osteosclerosis Secondary to Metastatic Oligodendroglioma. ( 28435646 )
2017
16
A Novel ANO5 Mutation Causing Gnathodiaphyseal Dysplasia With High Bone Turnover Osteosclerosis. ( 27541832 )
2017
17
Juvenile hyaline fibromatosis: report of a rare case at an advanced stage with osteosclerosis and scoliosis. ( 27061595 )
2016
18
Resolution of osteosclerosis after alloHCT in systemic mastocytosis. ( 27512733 )
2016
19
Spondyloarthropathy-Like Findings and Diffuse Osteosclerosis as the Presenting Feature of Pseudohypoparathyroidism. ( 26906309 )
2016
20
Prevalence of idiopathic osteosclerosis in an Iranian population. ( 27966515 )
2016
21
A case of hepatitis C-associated osteosclerosis: accelerated bone turnover controlled by pulse steroid therapy. ( 27933174 )
2016
22
Frequency and pattern of idiopathic osteosclerosis and condensing osteitis lesions in panoramic radiography of Iranian patients. ( 27605989 )
2016
23
Skeletal idiopathic osteosclerosis helps to perform personal identification of unknown decedents: A novel contribution from anatomical variants through CT scan. ( 27320398 )
2016
24
Idiopathic Acquired Osteosclerosis in a Middle-Aged Woman With Systemic Lupus Erythematosus. ( 27005479 )
2016
25
Intramedullary osteosclerosis of right femur confirmed on triphasic bone SPECT/CT in a patient with equivocal radiological features. ( 26917893 )
2016
26
Problems and pitfalls in grading of bone marrow fibrosis, collagen deposition and osteosclerosis - a consensus-based study. ( 26402166 )
2016
27
Elevated marrow inflammatory cells and osteoclasts in subchondral osteosclerosis in human knee osteoarthritis. ( 26250062 )
2016
28
Osteosclerosis in a thirty-four-year-old woman with primary hyperparathyroidism. ( 25901265 )
2015
29
Prevalence of Osteosclerosis Among Patients Visiting Dental Institute in Rural Area of Western India. ( 26436044 )
2015
30
Hepatitis C-associated osteosclerosis: a new case with long-term follow-up and a review of the literature. ( 25832941 )
2015
31
Osteosclerosis induced by denosumab. ( 25465110 )
2015
32
Acute Myeloid Leukemia with Isolated Trisomy 19 Associated with Diffuse Myelofibrosis and Osteosclerosis. ( 26694466 )
2015
33
Role of Endothelin-1 in a Syndrome of Myelofibrosis and Osteosclerosis. ( 26358171 )
2015
34
Focal osteosclerosis of the skull in primary hyperparathyroidism. ( 24872490 )
2014
35
Imaging findings in 22 cases of Schnitzler syndrome: characteristic para-articular osteosclerosis, and the "hot knees" sign differential diagnosis. ( 24652142 )
2014
36
Idiopathic Osteosclerosis of the Jaw in a Brazilian Population: a Retrospective Study. ( 27688365 )
2014
37
A patient with skin lesions, osteosclerosis and hepatosplenomegaly. ( 25039362 )
2014
38
An uncommon cause of acquired osteosclerosis in adults: hepatitis C-associated osteosclerosis. ( 24719041 )
2014
39
A possible association of idiopathic osteosclerosis with excessive occlusal forces. ( 24570993 )
2014
40
Dramatic response of diffuse osteosclerosis secondary to multiple myeloma using thalidomide with melphalan and prednisolone. ( 24516032 )
2014
41
Radiologic assessment and frequency of idiopathic osteosclerosis of jawbones: an interpopulation comparison. ( 24316662 )
2014
42
Diffuse osteosclerosis in a patient with prostate cancer. ( 24136106 )
2014
43
Intramedullary osteosclerosis: An incidental sclerotic lesion in a trauma patient. ( 27330650 )
2013
44
The A242T mutation in the low-density lipoprotein receptor-related protein 5 gene in one Chinese family with osteosclerosis. ( 23318847 )
2013
45
Erythrocytic pyruvate kinase mutations causing hemolytic anemia, osteosclerosis, and seconday hemochromatosis in dogs. ( 22805166 )
2012
46
The prevalence of idiopathic osteosclerosis and condensing osteitis in Zagreb population. ( 23540165 )
2012
47
Intramedullary osteosclerosis. ( 23431512 )
2012
48
Osteosclerosis and inhibition of human hematopoiesis in NOG mice expressing human Delta-like 1 in osteoblasts. ( 22771497 )
2012
49
Diffuse osteosclerosis-associated acute myeloid leukemia. ( 22124108 )
2012
50
A case of hepatitis C-associated osteosclerosis with xanthogranulomatous cholecystitis. ( 21841329 )
2011

Variations for Endosteal Hyperostosis, Autosomal Dominant

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

76
# 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

ClinVar genetic disease variations for Endosteal Hyperostosis, Autosomal Dominant:

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

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 BMP2 CA2 CSF1 CTSK IGF2 THPO
2 endosome membrane GO:0010008 9.56 ATP6V0A2 PLEKHM1 SNX10 TCIRG1
3 vacuolar proton-transporting V-type ATPase complex GO:0016471 9.37 ATP6V0A2 TCIRG1
4 proton-transporting V-type ATPase, V0 domain GO:0033179 9.32 ATP6V0A2 TCIRG1
5 lysosomal membrane GO:0005765 9.02 ATP6V0A2 CLCN7 OSTM1 PLEKHM1 TCIRG1
6 vacuolar proton-transporting V-type ATPase, V0 domain GO:0000220 8.96 ATP6V0A2 TCIRG1

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell proliferation GO:0008284 9.85 CSF1 IGF2 LRP5 TCIRG1 THPO
2 positive regulation of protein kinase B signaling GO:0051897 9.75 IGF2 THPO TNFSF11
3 skeletal system development GO:0001501 9.72 BMP2 IGF2 TNFRSF11B
4 animal organ morphogenesis GO:0009887 9.71 BMP2 IGF2 TNFSF11
5 ossification GO:0001503 9.67 BMP2 IGF2 TNFSF11
6 regulation of signaling receptor activity GO:0010469 9.63 BMP2 CSF1 IGF2 THPO TNFRSF11B TNFSF11
7 insulin receptor signaling pathway GO:0008286 9.61 ATP6V0A2 IGF2 TCIRG1
8 adipose tissue development GO:0060612 9.59 AMER1 LRP5
9 ATP hydrolysis coupled proton transport GO:0015991 9.58 ATP6V0A2 TCIRG1
10 calcium ion homeostasis GO:0055074 9.57 SNX10 TNFSF11
11 positive regulation of mitotic nuclear division GO:0045840 9.56 IGF2 LRP5
12 branching involved in mammary gland duct morphogenesis GO:0060444 9.52 CSF1 LRP5
13 vacuolar acidification GO:0007035 9.51 ATP6V0A2 TCIRG1
14 bone resorption GO:0045453 9.5 CTSK SNX10 TNFSF11
15 response to pH GO:0009268 9.48 CA2 CLCN7
16 positive regulation of osteoclast differentiation GO:0045672 9.43 CA2 CSF1 TNFSF11
17 tooth eruption GO:0044691 9.4 SNX10 TNFSF11
18 osteoclast proliferation GO:0002158 9.37 CSF1 TNFSF11
19 positive regulation of bone resorption GO:0045780 9.13 CA2 PLEKHM1 TNFSF11
20 osteoclast differentiation GO:0030316 8.92 CSF1 OSTM1 SNX10 TNFSF11

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 ATP6V0A2 SNX10 TCIRG1
2 proton-transporting ATPase activity, rotational mechanism GO:0046961 9.26 ATP6V0A2 TCIRG1
3 growth factor activity GO:0008083 9.26 BMP2 CSF1 IGF2 THPO
4 cytokine activity GO:0005125 9.02 BMP2 CSF1 THPO TNFRSF11B TNFSF11

Sources for Endosteal Hyperostosis, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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