WENHY
MCID: END081
MIFTS: 54

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 20
Osteosclerosis 57 12 74 54 44 15 71
Worth Syndrome 12 74 20 58 73 44 15
Osteosclerosis, Autosomal Dominant 57 20 54
Endosteal Hyperostosis, Worth Type 20 58 73
Hyperostosis, Endosteal 57 13 39
Worth Disease 29 6 71
Autosomal Dominant Osteosclerosis, Worth Type 20 58
Worth Type Autosomal Dominant Osteosclerosis 20 36
Hyperostosis Corticalis Generalisata, Benign Form of Worth, with Torus Palatinus 57
Hyperostosis Corticalis Generalisata, Benign Form of Worth with Torus Palatinus 20
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 20
Autosomal Dominant Endosteal Hyperostosis 12
Endosteal Hyperostosis Autosomal Dominant 73
Autosomal Dominant Osteosclerosis 12
Osteosclerosis Autosomal Dominant 73
Worth's Syndrome 12
Wenhy 73

Characteristics:

Orphanet epidemiological data:

58
endosteal hyperostosis, worth type
Inheritance: Autosomal dominant;

OMIM®:

57 (Updated 05-Mar-2021)
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:

Disease Ontology 12 DOID:0080037 DOID:4254
OMIM® 57 144750
KEGG 36 H00450
NCIt 50 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

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2790DefinitionWorth 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.EpidemiologyThe syndrome has been described in less than 10 families.Clinical descriptionCraniofacial anomalies develop during adolescence and include a prominent forehead, wide and deep mandibles, wide nasal root, taurus palatinus and increased gonial angle.EtiologyThe syndrome is due to a mutation in the LRP5 gene that leads to increased bone formation.Genetic counselingTransmission 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 osteopetrosis, autosomal dominant 2 and osteopetrosis, autosomal dominant 1. 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 drug Soy Bean has been mentioned in the context of this disorder. Affiliated tissues include bone, cortex and endothelial, 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® : 57 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) (Updated 05-Mar-2021)

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 370)
# Related Disease Score Top Affiliating Genes
1 osteopetrosis, autosomal dominant 2 32.4 TNFSF11 TCIRG1 CLCN7
2 osteopetrosis, autosomal dominant 1 32.3 LRP5 CLCN7
3 osteopetrosis 32.1 TNFSF11 TNFRSF11B TCIRG1 OSTM1 LRP5 CTSK
4 pycnodysostosis 31.9 TNFSF11 TCIRG1 SOST OSTM1 CTSK CLCN7
5 craniodiaphyseal dysplasia 31.8 TCIRG1 SOST LRP5 CLCN7
6 van buchem disease 31.8 TNFSF11 SP7 SOST PTH LRP5 COL1A1
7 axial osteomalacia 31.8 TCIRG1 OSTM1 LEMD3 CLCN7 CA2
8 osteopetrosis, autosomal recessive 5 31.6 TNFSF11 TCIRG1 OSTM1 LRP5 CLCN7 CA2
9 craniometaphyseal dysplasia, autosomal dominant 31.5 TNFSF11 TNFRSF11B TCIRG1 SP7 OSTM1 IBSP
10 hyperparathyroidism 30.9 TNFSF11 TNFRSF11B PTH
11 hyperostosis 30.9 TNFRSF11B SOST LRP5 COL1A1
12 mammary paget's disease 30.7 TNFSF11 TNFRSF11B PTH
13 primary hyperparathyroidism 30.7 TNFSF11 SOST PTH
14 renal osteodystrophy 30.6 TNFSF11 TNFRSF11B SOST PTH
15 chronic kidney disease 30.5 TNFSF11 TNFRSF11B SOST PTH IBSP
16 osteonecrosis 30.4 TNFSF11 TNFRSF11B PTH LRP5 BMP2
17 deficiency anemia 30.3 THPO PTH BMP2 ATP4A ATP12A
18 osteopetrosis, autosomal recessive 1 30.3 TCIRG1 CLCN7
19 root resorption 30.3 TNFSF11 TNFRSF11B CTSK
20 spondylolysis 30.2 CTSK BMP2
21 paget's disease of bone 30.2 TNFSF11 TNFRSF11B SOST PTH IBSP
22 osteomyelitis 30.2 TNFSF11 CTSK BMP2
23 renal tubular acidosis 30.2 TCIRG1 CLCN7 CA2
24 autosomal recessive hypophosphatemic rickets 30.1 SOST PTH IBSP
25 tooth resorption 30.0 TNFSF11 PTH IBSP CTSK BMP2
26 bone disease 29.9 TNFSF11 TNFRSF11B SP7 SOST PTH OSTM1
27 osteogenic sarcoma 29.8 TNFSF11 TNFRSF11B SP7 PTH IBSP BMP2
28 sclerosteosis 29.7 TNFSF11 SP7 SOST PTH LRP5 CTSK
29 bone resorption disease 29.7 TNFSF11 TNFRSF11B SP7 SOST PTH LRP5
30 osteoporosis 29.5 TNFSF11 TNFRSF11B TCIRG1 SP7 SOST PTH
31 osteomesopyknosis 11.5
32 raine syndrome 11.4
33 osteosclerosis with ichthyosis and premature ovarian failure 11.2
34 craniofacial dysostosis with diaphyseal hyperplasia 11.2
35 camurati-engelmann disease 11.2
36 van buchem disease, type 2 11.2
37 distal osteosclerosis 11.1
38 dysosteosclerosis 11.1
39 robinow syndrome 11.0
40 hyperostosis cranialis interna 11.0
41 lenz-majewski hyperostotic dwarfism 11.0
42 osteopathia striata with cranial sclerosis 11.0
43 osteopetrosis, autosomal dominant 3 11.0
44 cote katsantoni syndrome 10.9
45 osteopoikilosis 10.9
46 melorheostosis 10.9
47 achondroplasia 10.9
48 osteosclerosis with ichthyosis and fractures 10.9
49 osteosclerosis-developmental delay-craniosynostosis syndrome 10.9
50 foix-alajouanine syndrome 10.9

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 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 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®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.66 TNFRSF11B
2 Decreased viability GR00221-A-2 9.66 TNFRSF11B
3 Decreased viability GR00240-S-1 9.66 SP7
4 Decreased viability GR00249-S 9.66 ATP12A ATP4A CA2 CLCN7 SOST TNFRSF11B
5 Decreased viability GR00381-A-1 9.66 CTSK
6 Decreased viability GR00386-A-1 9.66 IBSP TCIRG1 THPO TNFSF11
7 Decreased viability GR00402-S-2 9.66 BMP2 CLCN7 CTSK SP7 TCIRG1 THPO

MGI Mouse Phenotypes related to Endosteal Hyperostosis, Autosomal Dominant:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.33 ATP12A ATP4A BMP2 CA2 CLCN7 COL1A1
2 hematopoietic system MP:0005397 10.28 ATP4A BMP2 CLCN7 COL1A1 CTSK IBSP
3 homeostasis/metabolism MP:0005376 10.28 ATP12A ATP4A BMP2 CA2 CLCN7 COL1A1
4 cellular MP:0005384 10.25 BMP2 CLCN7 COL1A1 CTSK LEMD3 LRP5
5 craniofacial MP:0005382 10.24 BMP2 CLCN7 COL1A1 CTSK IBSP LRP5
6 immune system MP:0005387 10.24 ATP4A BMP2 CA2 CLCN7 COL1A1 CTSK
7 limbs/digits/tail MP:0005371 10.13 BMP2 CLCN7 COL1A1 CTSK IBSP LRP5
8 mortality/aging MP:0010768 10.07 ATP4A BMP2 CA2 CLCN7 COL1A1 LEMD3
9 digestive/alimentary MP:0005381 10.02 ATP12A ATP4A BMP2 CA2 COL1A1 CTSK
10 normal MP:0002873 9.81 BMP2 CLCN7 COL1A1 IGFBP2 LRP5 SOST
11 respiratory system MP:0005388 9.5 CA2 CLCN7 COL1A1 CTSK SP7 THPO
12 skeleton MP:0005390 9.47 BMP2 CA2 CLCN7 COL1A1 CTSK IBSP

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
1 Soy Bean Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effects of Soy Isoflavone on Bone Health Among Saudi Female Students Imam Abdulrahman Bin Faisal University. Completed NCT04547010 Phase 3
2 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 Unknown status NCT03626779
3 Subperiosteal Minimally Invasive Aesthetic Ridge Augmentation Technique With and Without Low Level Laser Therapy: A Comparative Clinical Trial Completed NCT04190576
4 Effects of Virtual Reality Exercises on Total Body Fat Ratio and Bone Health in Children With Acute Lymphoblastic Leukemia at Remitted Completed 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, Cortex, Endothelial

Publications for Endosteal Hyperostosis, Autosomal Dominant

Articles related to Endosteal Hyperostosis, Autosomal Dominant:

(show all 28)
# 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. 6 57 54
12579474 2003
2
High bone density due to a mutation in LDL-receptor-related protein 5. 6
12015390 2002
3
[Van Buchem disease. Maxillofacial changes, diagnostic classification and general principles of treatment]. 6
10434540 1999
4
Neurological involvement in Worth type endosteal hyperostosis: report of a family. 57
8030669 1994
5
Autosomal dominant endosteal hyperostosis. Report of a Spanish family with neurological involvement. 57
3568443 1987
6
Autosomal dominant osteosclerosis. 57
198847 1977
7
Autosomal dominant osteosclerosis. 57
198844 1977
8
Van Buchem's disease (hyperostosis corticalis generalisata) 57
181111 1976
9
Van Buchem's disease (hyperostosis corticalis generalisata familiaris). A case report. 57
4339940 1972
10
[Generalized hyperostosis corticalis (dominant transmission) (Worth's type)]. 57
4942110 1971
11
Idiopathic osteosclerosis. A report of 6 related cases. 57
5635141 1968
12
Hyperostosis corticalis generalisata congenita. 57
5329553 1966
13
Worth syndrome "mandibular osteosclerosis" as an incidental finding: a report of 2 cases. 61
30028190 2018
14
Case Report of Worth Syndrome and Chiari I Malformation: Unusual Association and Surgical Treatment. 61
29709743 2018
15
Worth syndrome as a diagnosis for mandibular osteosclerosis. 61
22065804 2011
16
Mechanisms of the anabolic effects of teriparatide on bone: insight from the treatment of a patient with pycnodysostosis. 54
18302508 2008
17
Proteasome inhibitor bortezomib impairs both myelofibrosis and osteosclerosis induced by high thrombopoietin levels in mice. 54
17374740 2007
18
Osteoporosis and osteosclerosis in sickle cell/beta-thalassemia: the role of the RANKL/osteoprotegerin axis. 54
16704959 2006
19
Osteosclerosis in advanced chronic idiopathic myelofibrosis is associated with endothelial overexpression of osteoprotegerin. 54
15982347 2005
20
An autosomal dominant high bone mass phenotype in association with craniosynostosis in an extended family is caused by an LRP5 missense mutation. 54
15940380 2005
21
Aberrant expression of transforming growth factor beta-1 (TGF beta-1) per se does not discriminate fibrotic from non-fibrotic chronic myeloproliferative disorders. 54
15726648 2005
22
Osteosclerosis in idiopathic myelofibrosis is related to the overproduction of osteoprotegerin (OPG). 54
15504545 2004
23
[Fluoride toxicity]. 54
15107774 2004
24
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
14753734 2004
25
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
12161524 2002
26
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
12162999 2002
27
Hyperparathyroidism and increased serum IGF-binding protein-2 levels in hepatitis C-associated osteosclerosis. 54
9920116 1999
28
[Thrombopoietin is a multifunctional factor]. 54
9369068 1997

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.1199C>T (p.Ala400Val) SNV Uncertain significance 520692 rs201320326 11:68153967-68153967 11:68386499-68386499
5 LRP5 NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) SNV Uncertain significance 183255 rs61889560 11:68191036-68191036 11:68423568-68423568

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

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 PTH IGFBP2
2 extracellular space GO:0005615 9.4 TNFSF11 TNFRSF11B THPO SOST PTH IGFBP2

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 response to drug GO:0042493 9.89 TNFRSF11B PTH IGFBP2 COL1A1
2 ion transmembrane transport GO:0034220 9.8 TCIRG1 OSTM1 CLCN7 ATP4A ATP12A
3 skeletal system development GO:0001501 9.73 TNFRSF11B PTH COL1A1 BMP2
4 response to nutrient GO:0007584 9.7 TNFRSF11B IGFBP2 COL1A1
5 response to mechanical stimulus GO:0009612 9.69 SOST IGFBP2 COL1A1
6 response to estrogen GO:0043627 9.67 TNFRSF11B IGFBP2 CA2
7 positive regulation of ossification GO:0045778 9.58 PTH BMP2
8 sodium ion export across plasma membrane GO:0036376 9.58 ATP4A ATP12A
9 cellular potassium ion homeostasis GO:0030007 9.57 ATP4A ATP12A
10 establishment or maintenance of transmembrane electrochemical gradient GO:0010248 9.56 ATP4A ATP12A
11 osteoblast differentiation GO:0001649 9.56 SP7 IBSP COL1A1 BMP2
12 response to pH GO:0009268 9.55 CLCN7 CA2
13 positive regulation of osteoblast proliferation GO:0033690 9.54 LRP5 BMP2
14 response to steroid hormone GO:0048545 9.54 IGFBP2 COL1A1 CA2
15 osteoclast differentiation GO:0030316 9.5 TNFSF11 TCIRG1 OSTM1
16 intramembranous ossification GO:0001957 9.48 CTSK COL1A1
17 osteoclast proliferation GO:0002158 9.46 TNFSF11 TCIRG1
18 tooth eruption GO:0044691 9.33 TNFSF11 TCIRG1 COL1A1
19 bone resorption GO:0045453 9.26 TNFSF11 TCIRG1 PTH CTSK
20 ossification GO:0001503 9.1 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 9.56 TNFSF11 TNFRSF11B THPO BMP2
2 sodium:potassium-exchanging ATPase activity GO:0005391 9.16 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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