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 53
Osteosclerosis 57 12 76 55 44 15 73
Worth Syndrome 12 76 53 59 75
Osteosclerosis, Autosomal Dominant 57 53 55
Endosteal Hyperostosis, Worth Type 53 59 75
Hyperostosis, Endosteal 57 13 40
Worth Disease 29 6 73
Autosomal Dominant Osteosclerosis, Worth Type 53 59
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 53
Hyperostosis Corticalis Generalisata Benign Form of Worth with Torus Palatinus 75
Benign Form of Worth Hyperostosis Corticalis Generalisata with Torus Platinus 12
Osteosclerosis, Autosomal Dominant, Worth Type 53
Ostéosclérose Autosomique Dominante Type Worth 59
Worth Type Autosomal Dominant Osteosclerosis 37
Autosomal Dominant Endosteal Hyperostosis 12
Endosteal Hyperostosis Autosomal Dominant 75
Autosomal Dominant Osteosclerosis 12
Osteosclerosis Autosomal Dominant 75
Wenhy 75

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:

OMIM 57 144750
Disease Ontology 12 DOID:0080037 DOID:4254
ICD10 33 Q78.2
NCIt 50 C41236
SNOMED-CT 68 49347007
Orphanet 59 ORPHA2790
UMLS via Orphanet 74 C0432273 C2931308
ICD10 via Orphanet 34 Q78.2
MedGen 42 C0432273
KEGG 37 H00450

Summaries for Endosteal Hyperostosis, Autosomal Dominant

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2790Disease definitionWorth 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. 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. Affiliated tissues include bone, cortex and myeloid, and related phenotypes are nystagmus and facial palsy

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

UniProtKB/Swiss-Prot : 75 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 : 76 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 151)
# Related Disease Score Top Affiliating Genes
1 osteopetrosis, autosomal dominant 2 32.3 CLCN7 CTSK LRP5 TCIRG1 TNFSF11
2 osteopetrosis 31.9 CLCN7 CSF1 CTSK LRP5 OSTM1 PLEKHM1
3 pycnodysostosis 31.8 CTSK CLCN7
4 osteopathia striata with cranial sclerosis 31.6 TNFRSF11B LRP5 AMER1
5 bone inflammation disease 29.9 TNFSF11 TNFRSF11B CTSK
6 osteonecrosis 29.9 TNFSF11 TNFRSF11B BMP2
7 osteoporosis 29.8 TNFSF11 TNFRSF11B LRP5 CTSK CSF1 BMP2
8 hyperostosis 29.8 TNFRSF11B LRP5 ANKH
9 bone disease 29.6 CLCN7 CSF1 CTSK LRP5 OSTM1 TNFRSF11B
10 osteomesopyknosis 12.2
11 distal osteosclerosis 12.2
12 osteosclerosis with ichthyosis and premature ovarian failure 12.1
13 osteosclerosis with ichthyosis and fractures 12.0
14 osteosclerosis abnormalities of nervous system and meninges 12.0
15 osteosclerosis-developmental delay-craniosynostosis syndrome 12.0
16 raine syndrome 11.9
17 camurati-engelmann disease 11.6
18 van buchem disease, type 2 11.6
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 van buchem disease 11.0
28 robinow syndrome 11.0
29 achondroplasia 11.0
30 axial osteomalacia 10.9
31 craniometaphyseal dysplasia, autosomal dominant 10.9
32 dentin dysplasia with sclerotic bones 10.9
33 lenz-majewski hyperostotic dwarfism 10.9
34 craniodiaphyseal dysplasia 10.9
35 osteopetrosis, autosomal recessive 5 10.9
36 osteosclerotic metaphyseal dysplasia 10.9
37 robinow syndrome, autosomal dominant 2 10.9
38 osteopetrosis, autosomal dominant 3 10.9
39 hepatitis 10.5
40 hepatitis c 10.4
41 myelofibrosis 10.4
42 hyperparathyroidism 10.4
43 leukemia 10.3
44 polyarticular onset juvenile idiopathic arthritis 10.2 TNFSF11 TNFRSF11B
45 hemophilic arthropathy 10.2 TNFSF11 TNFRSF11B
46 myeloma, multiple 10.2
47 primary hyperparathyroidism 10.2
48 kummell's disease 10.2 TNFSF11 TNFRSF11B
49 tooth ankylosis 10.2 TNFSF11 BMP2
50 chronic apical periodontitis 10.2 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Endosteal Hyperostosis, Autosomal Dominant:

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

MGI Mouse Phenotypes related to Endosteal Hyperostosis, Autosomal Dominant:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.26 AMER1 ANKH BMP2 CLCN7 CSF1 CTSK
2 hematopoietic system MP:0005397 10.25 AMER1 ANKH BMP2 CLCN7 CSF1 CTSK
3 craniofacial MP:0005382 10.23 AMER1 ANKH BMP2 CLCN7 CSF1 CTSK
4 growth/size/body region MP:0005378 10.21 AMER1 ANKH BMP2 CLCN7 CSF1 CTSK
5 immune system MP:0005387 10.17 AMER1 ANKH BMP2 CLCN7 CSF1 CTSK
6 homeostasis/metabolism MP:0005376 10.15 AMER1 ANKH BMP2 CLCN7 CSF1 CTSK
7 cardiovascular system MP:0005385 10.1 AMER1 ANKH BMP2 CSF1 IGF2 LEMD3
8 limbs/digits/tail MP:0005371 10.07 AMER1 ANKH BMP2 CLCN7 CSF1 CTSK
9 mortality/aging MP:0010768 9.93 AMER1 ANKH BMP2 CLCN7 CSF1 IGF2
10 skeleton MP:0005390 9.44 AMER1 ANKH BMP2 CLCN7 CSF1 CTSK
11 respiratory system MP:0005388 9.43 ANKH 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 29 LRP5

Anatomical Context for Endosteal Hyperostosis, Autosomal Dominant

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

41
Bone, Cortex, Myeloid, T Cells, Prostate, Heart, Bone Marrow

Publications for Endosteal Hyperostosis, Autosomal Dominant

Articles related to Endosteal Hyperostosis, Autosomal Dominant:

(show all 46)
# Title Authors Year
1
Brown Tumour in the Mandible and Skull Osteosclerosis Associated with Primary Hyperparathyroidism - A Case Report. ( 29531614 )
2018
2
Hyperparathyroidism-induced osteosclerosis mimicking diffuse osteo-medullary metastases on 18F-FDG PET/CT: The role of the «rugger jersey» spine sign. ( 28456414 )
2018
3
A novel FAM20C mutation causing hypophosphatemic osteomalacia with osteosclerosis (mild Raine syndrome) in an elderly man with spontaneous osteonecrosis of the knee. ( 30151622 )
2018
4
Prevalence and morphometric analysis of idiopathic osteosclerosis in a Chilean population. ( 28933800 )
2018
5
A case of multiple myeloma presenting with diffuse osteosclerosis and multiple bone infarcts. ( 29233690 )
2018
6
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
7
Unique Variant of NOD2 Pediatric Granulomatous Arthritis With Severe 1,25-Dihydroxyvitamin D-Mediated Hypercalcemia and Generalized Osteosclerosis. ( 29933504 )
2018
8
The Pathology of Type II Modic Changes: Fat Deposition or Osteosclerosis? A Study Using CT Scan. ( 29967778 )
2018
9
Worth syndrome "mandibular osteosclerosis" as an incidental finding: a report of 2 cases. ( 30028190 )
2018
10
Idiopathic osteosclerosis in the maxillomandibular area. ( 30244367 )
2018
11
Elevated marrow inflammatory cells and osteoclasts in subchondral osteosclerosis in human knee osteoarthritis. ( 26250062 )
2016
12
Problems and pitfalls in grading of bone marrow fibrosis, collagen deposition and osteosclerosis - a consensus-based study. ( 26402166 )
2016
13
Intramedullary osteosclerosis of right femur confirmed on triphasic bone SPECT/CT in a patient with equivocal radiological features. ( 26917893 )
2016
14
Idiopathic Acquired Osteosclerosis in a Middle-Aged Woman With Systemic Lupus Erythematosus. ( 27005479 )
2016
15
Skeletal idiopathic osteosclerosis helps to perform personal identification of unknown decedents: A novel contribution from anatomical variants through CT scan. ( 27320398 )
2016
16
Frequency and pattern of idiopathic osteosclerosis and condensing osteitis lesions in panoramic radiography of Iranian patients. ( 27605989 )
2016
17
A case of hepatitis C-associated osteosclerosis: accelerated bone turnover controlled by pulse steroid therapy. ( 27933174 )
2016
18
Prevalence of idiopathic osteosclerosis in an Iranian population. ( 27966515 )
2016
19
Role of Endothelin-1 in a Syndrome of Myelofibrosis and Osteosclerosis. ( 26358171 )
2015
20
Acute Myeloid Leukemia with Isolated Trisomy 19 Associated with Diffuse Myelofibrosis and Osteosclerosis. ( 26694466 )
2015
21
Prevalence of Osteosclerosis Among Patients Visiting Dental Institute in Rural Area of Western India. ( 26436044 )
2015
22
Radiologic assessment and frequency of idiopathic osteosclerosis of jawbones: an interpopulation comparison. ( 24316662 )
2014
23
Idiopathic Osteosclerosis of the Jaw in a Brazilian Population: a Retrospective Study. ( 27688365 )
2014
24
The A242T mutation in the low-density lipoprotein receptor-related protein 5 gene in one Chinese family with osteosclerosis. ( 23318847 )
2013
25
Intramedullary osteosclerosis: An incidental sclerotic lesion in a trauma patient. ( 27330650 )
2013
26
Worth syndrome as a diagnosis for mandibular osteosclerosis. ( 22065804 )
2011
27
A case of hepatitis C-associated osteosclerosis with xanthogranulomatous cholecystitis. ( 21841329 )
2011
28
A case of hepatitis C-associated osteosclerosis that was improved with the combination therapy of peginterferon alfa-2b and ribavirin. ( 26189530 )
2011
29
Osteosclerosis owing to Notch gain of function is solely Rbpj-dependent. ( 20499347 )
2010
30
Decrease of osteosclerosis in subchondral bone of medial compartmental osteoarthritic knee seven to nineteen years after high tibial valgus osteotomy. ( 12828381 )
2002
31
Hepatitis C-associated osteosclerosis: late onset after blood transfusion in an elderly woman. ( 9435422 )
1998
32
A histomorphometric study of haematological disorders with respect to marrow fibrosis and osteosclerosis. ( 9637273 )
1998
33
Histological evaluation of a tooth with hyperplastic pulpitis and periapical osteosclerosis. ( 9477826 )
1997
34
Diffuse osteosclerosis in intravenous drug abusers. ( 8259784 )
1993
35
Film panel cases Society of Pediatric Radiology. Tuberous sclerosis with osteosclerosis of vertebrae. ( 2349028 )
1990
36
Osteosclerosis in F344/DuCrj rats. ( 3392948 )
1988
37
Osteosclerosis in leprosy. ( 7152894 )
1982
38
Focal osteosclerosis and apical periodontal pathoses in "European" and Cape coloured dental outpatients. ( 103854 )
1978
39
Generalized osteosclerosis in primary hyperparathyroidism. ( 4804093 )
1974
40
Metastatic cerebellar sarcoma (desmoplastic medulloblastoma) with diffuse osteosclerosis and leukoerythroblastic anemia. ( 5648948 )
1968
41
Fluoride osteosclerosis simulating carcinoma of the prostate with widespread bony metastasis: a case report. ( 5956782 )
1966
42
Localized osteosclerosis in hyperparathyroidism. ( 13920210 )
1962
43
Osteosclerosis in renal failure. ( 24543824 )
1955
44
Osteopetrosis; osteopetrosis generalisata, marble bones; Albers-Schönberg's disease, osteosclerosis fragilitas generalisata. ( 18861074 )
1948
45
Localised Osteosclerosis. ( 29638703 )
1931
46
Acute Myelocythæmia Associated with Osteosclerosis. ( 29583496 )
1912

Variations for Endosteal Hyperostosis, Autosomal Dominant

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

75
# 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_002335.3(LRP5): c.724G> A (p.Ala242Thr) single nucleotide variant Pathogenic rs121908670 GRCh37 Chromosome 11, 68131252: 68131252
2 LRP5 NM_002335.3(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

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:

37
# 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
12.12 ATP6V0A2 CLCN7 OSTM1 TCIRG1
2 11.67 ATP6V0A2 CTSK TCIRG1
3 11.56 CSF1 CTSK TNFRSF11B TNFSF11
4 10.98 ATP6V0A2 CSF1 CTSK TCIRG1 TNFSF11
5 10.91 TNFRSF11B TNFSF11
6 10.56 BMP2 CSF1 IGF2 THPO TNFSF11
7 10.51 TNFRSF11B TNFSF11
8 10.34 CTSK TNFRSF11B TNFSF11

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 9.87 BMP2 CSF1 CTSK IGF2 THPO TNFRSF11B
2 vacuolar proton-transporting V-type ATPase complex GO:0016471 9.26 ATP6V0A2 TCIRG1
3 proton-transporting V-type ATPase, V0 domain GO:0033179 9.16 ATP6V0A2 TCIRG1
4 lysosomal membrane GO:0005765 9.02 ATP6V0A2 CLCN7 OSTM1 PLEKHM1 TCIRG1
5 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 18)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein phosphorylation GO:0001934 9.75 BMP2 IGF2 THPO
2 positive regulation of protein kinase B signaling GO:0051897 9.72 IGF2 THPO TNFSF11
3 positive regulation of cell proliferation GO:0008284 9.72 CSF1 IGF2 LRP5 TCIRG1 THPO
4 animal organ morphogenesis GO:0009887 9.65 BMP2 IGF2 TNFSF11
5 ossification GO:0001503 9.58 BMP2 IGF2 TNFSF11
6 adipose tissue development GO:0060612 9.57 AMER1 LRP5
7 ATP hydrolysis coupled proton transport GO:0015991 9.56 ATP6V0A2 TCIRG1
8 skeletal system development GO:0001501 9.56 ANKH BMP2 IGF2 TNFRSF11B
9 positive regulation of mitotic nuclear division GO:0045840 9.54 IGF2 LRP5
10 insulin receptor signaling pathway GO:0008286 9.54 ATP6V0A2 IGF2 TCIRG1
11 bone resorption GO:0045453 9.52 CTSK TNFSF11
12 positive regulation of osteoclast differentiation GO:0045672 9.51 CSF1 TNFSF11
13 positive regulation of bone resorption GO:0045780 9.49 PLEKHM1 TNFSF11
14 branching involved in mammary gland duct morphogenesis GO:0060444 9.46 CSF1 LRP5
15 vacuolar acidification GO:0007035 9.43 ATP6V0A2 TCIRG1
16 osteoclast proliferation GO:0002158 9.16 CSF1 TNFSF11
17 osteoclast differentiation GO:0030316 9.13 CSF1 OSTM1 TNFSF11
18 regulation of signaling receptor activity GO:0010469 9.1 BMP2 CSF1 IGF2 THPO TNFRSF11B TNFSF11

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

# Name GO ID Score Top Affiliating Genes
1 proton transmembrane transporter activity GO:0015078 9.26 ATP6V0A2 TCIRG1
2 growth factor activity GO:0008083 9.26 BMP2 CSF1 IGF2 THPO
3 proton-transporting ATPase activity, rotational mechanism GO:0046961 9.16 ATP6V0A2 TCIRG1
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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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