WENHY
MCID: END081
MIFTS: 62

Endosteal Hyperostosis, Autosomal Dominant (WENHY)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases
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Aliases & Classifications for Endosteal Hyperostosis, Autosomal Dominant

MalaCards integrated aliases for Endosteal Hyperostosis, Autosomal Dominant:

Name: Endosteal Hyperostosis, Autosomal Dominant 57 19
Osteosclerosis 57 11 75 53 5 43 14 71 33
Worth Syndrome 11 19 58 75 73 43 14
Osteosclerosis, Autosomal Dominant 57 19 53
Endosteal Hyperostosis, Worth Type 19 58 73
Hyperostosis, Endosteal 57 12 38
Worth Disease 28 5 71
Autosomal Dominant Osteosclerosis, Worth Type 19 58
Autosomal Dominant Endosteal Hyperostosis 11 75
Hyperostosis Corticalis Generalisata, Benign Form of Worth, with Torus Palatinus 57
Hyperostosis Corticalis Generalisata, Benign Form of Worth with Torus Palatinus 19
Hyperostosis Corticalis Generalisata Benign Form of Worth with Torus Palatinus 73
Benign Form of Worth Hyperostosis Corticalis Generalisata with Torus Platinus 11
Osteosclerosis, Autosomal Dominant, Worth Type 19
Worth Type Autosomal Dominant Osteosclerosis 19
Endosteal Hyperostosis Autosomal Dominant 73
Autosomal Dominant Osteosclerosis 11
Osteosclerosis Autosomal Dominant 73
Acquired Osteosclerosis 33
Worth's Syndrome 11
Wenhy 73

Characteristics:


Inheritance:

Endosteal Hyperostosis, Autosomal Dominant: Autosomal dominant 57
Endosteal Hyperostosis, Worth Type: Autosomal dominant 58

Prevelance:

Endosteal Hyperostosis, Worth Type: <1/1000000 (Worldwide) 58

Age Of Onset:

Endosteal Hyperostosis, Worth Type: Adolescent 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset of disease in late childhood
allelic to type i osteopetrosis , osteoporosis-pseudoglioma , type ii van buchem disease , and high bone mass


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0080037 DOID:4254
OMIM® 57 144750
NCIt 49 C41236
SNOMED-CT 68 254131007 49347007
ICD10 31 Q78.2
ICD10 via Orphanet 32 Q78.2
UMLS via Orphanet 72 C0432273 C2931308
Orphanet 58 ORPHA2790
MedGen 40 C0432273
ICD11 33 2061303143
UMLS 71 C0029464 C0432273

Summaries for Endosteal Hyperostosis, Autosomal Dominant

UniProtKB/Swiss-Prot: 73 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 camurati-engelmann disease 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 Signal Transduction and Ion channel transport. The drugs Soy Bean and Salicylic acid have been mentioned in the context of this disorder. Affiliated tissues include palate, bone and cortex, and related phenotypes are craniofacial hyperostosis and abnormal cortical bone morphology

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 08-Dec-2022)

GARD: 19 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.

Orphanet: 58 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.

Disease Ontology 11 Worth syndrome: A hyperostosis that has material basis in a mutation in the LRP5 gene which results in increased bone density and bony structures located in palate.

Osteosclerosis: A bone remodeling disease that results in abnormal elevated bone density or mass.

Wikipedia 75 Osteosclerosis: Osteosclerosis is a disorder that is characterized by abnormal hardening of bone and an elevation in... more...

Worth syndrome: Worth syndrome, also known as benign form of Worth hyperostosis corticalis generalisata with torus... 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 347)
# Related Disease Score Top Affiliating Genes
1 camurati-engelmann disease 32.3 TNFRSF11B SP7 SOST LRP5
2 osteopetrosis, autosomal dominant 1 32.2 LRP5 DKK1 CLCN7
3 osteopetrosis, autosomal dominant 2 32.1 TNFSF11 TCIRG1 OSTM1 LRP5 CTSK CLCN7
4 osteopetrosis 32.1 TNFSF11 TNFRSF11B TCIRG1 OSTM1 LRP5 CTSK
5 osteopathia striata with cranial sclerosis 32.0 SOST LRP5 AMER1
6 pycnodysostosis 31.9 TNFSF11 TCIRG1 SOST OSTM1 CTSK CLCN7
7 osteopetrosis, autosomal recessive 5 31.9 TCIRG1 OSTM1 CLCN7
8 osteopetrosis, autosomal recessive 6 31.9 TNFSF11 TCIRG1 CLCN7
9 axial osteomalacia 31.8 TCIRG1 PTH OSTM1 LEMD3 CLCN7
10 craniodiaphyseal dysplasia 31.7 SP7 SOST LRP5 AMER1
11 van buchem disease 31.7 TNFSF11 SP7 SOST PTH LRP5 DKK1
12 craniometaphyseal dysplasia, autosomal dominant 31.4 TNFSF11 TNFRSF11B TCIRG1 SP7 SOST OSTM1
13 hyperparathyroidism 31.0 TNFSF11 TNFRSF11B SOST PTH
14 hyperostosis 30.8 TNFRSF11B SOST LRP5 COL1A1 AMER1
15 osteomalacia 30.7 TNFSF11 SOST PTH
16 primary hyperparathyroidism 30.7 TNFSF11 SOST PTH COL1A1
17 renal osteodystrophy 30.5 TNFSF11 TNFRSF11B PTH IGFBP2
18 osteonecrosis 30.5 TNFRSF11B PTH LRP5 BMP2
19 chronic kidney disease 30.5 TNFSF11 TNFRSF11B SOST PTH IBSP DKK1
20 osteoarthritis 30.5 TNFSF11 TNFRSF11B CTSK BMP2
21 mccune-albright syndrome 30.5 SOST PTH LRP5
22 paget's disease of bone 30.4 TNFSF11 TNFRSF11B PTH CTSK
23 mammary paget's disease 30.3 TNFSF11 TNFRSF11B SP7 SOST PTH CTSK
24 kidney disease 30.2 TNFSF11 TNFRSF11B SOST PTH LRP5 IBSP
25 osteopetrosis, autosomal recessive 1 30.2 TCIRG1 CLCN7
26 sclerosteosis 1 30.1 TNFRSF11B SP7 SOST
27 spondylolysis 30.1 PTH CTSK BMP2
28 osteomyelitis 30.1 TNFSF11 CTSK BMP2
29 renal tubular acidosis 30.1 TCIRG1 PTH CA2
30 hyperphosphatemia 30.1 TNFRSF11B PTH BMP2
31 bone disease 30.0 TNFSF11 TNFRSF11B SP7 SOST PTH OSTM1
32 enthesopathy 30.0 SOST PTH
33 tooth agenesis 29.9 LRP5 DKK1 COL1A1 CLCN7 BMP2
34 osteitis fibrosa 29.9 SOST PTH
35 tooth resorption 29.8 TNFSF11 SP7 PTH IBSP CTSK BMP2
36 cleidocranial dysplasia 1 29.8 TNFSF11 SP7 IBSP CTSK COL1A1 BMP2
37 osteogenic sarcoma 29.8 TNFSF11 TNFRSF11B SP7 PTH IBSP BMP2
38 sclerosteosis 29.7 TNFSF11 SP7 SOST PTH LRP5 DKK1
39 osteoporosis 29.7 TNFSF11 TNFRSF11B TCIRG1 SP7 SOST PTH
40 diabetes mellitus 29.6 TNFSF11 SOST PTH LRP5 IGFBP2 COL1A1
41 osteochondrodysplasia 29.3 TNFSF11 TNFRSF11B TCIRG1 SP7 SOST PTH
42 osteomesopyknosis 11.6
43 craniofacial dysostosis with diaphyseal hyperplasia 11.4
44 raine syndrome 11.3
45 osteosclerosis with ichthyosis and premature ovarian failure 11.2
46 van buchem disease type 2 11.2
47 osteosclerosis-developmental delay-craniosynostosis syndrome 11.2
48 achondroplasia 11.2
49 dysosteosclerosis 11.2
50 distal osteosclerosis 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 30 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 craniofacial hyperostosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004493
2 abnormal cortical bone morphology 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003103
3 diaphyseal thickening 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005019
4 generalized osteosclerosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0005789
5 torus palatinus 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100789
6 clavicular sclerosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100923
7 abnormal rib morphology 30 Hallmark (90%) HP:0000772
8 abnormal form of the vertebral bodies 58 30 Frequent (33%) Frequent (79-30%)
HP:0003312
9 sclerotic vertebral body 30 Frequent (33%) HP:0100861
10 nystagmus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000639
11 facial palsy 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010628
12 mandibular prognathia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000303
13 sensorineural hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000407
14 dental malocclusion 30 HP:0000689
15 abnormality of the ribs 58 Very frequent (99-80%)
16 hyperostosis 30 HP:0100774
17 vertebral body sclerosis 58 Frequent (79-30%)
18 thickened cortex of long bones 30 HP:0000935
19 growth abnormality 30 HP:0001507
20 flat forehead 30 HP:0004425
21 abnormal pelvic girdle bone morphology 30 HP:0002644
22 metacarpal diaphyseal endosteal sclerosis 30 HP:0006174
23 metatarsal diaphyseal endosteal sclerosis 30 HP:0008114

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.11 AMER1 ATP4A BMP2 CA2 CLCN7 COL1A1
2 no effect GR00402-S-2 10.11 ATP4A CA2 COL1A1 DKK1 IBSP IGFBP2

MGI Mouse Phenotypes related to Endosteal Hyperostosis, Autosomal Dominant:

45 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.41 AMER1 ATP4A BMP2 CA2 CLCN7 COL1A1
2 limbs/digits/tail MP:0005371 10.37 AMER1 BMP2 CLCN7 COL1A1 CTSK DKK1
3 growth/size/body region MP:0005378 10.36 AMER1 ATP4A BMP2 CA2 CLCN7 COL1A1
4 craniofacial MP:0005382 10.28 AMER1 BMP2 CLCN7 COL1A1 CTSK DKK1
5 immune system MP:0005387 10.27 AMER1 ATP4A BMP2 CA2 CLCN7 COL1A1
6 cellular MP:0005384 10.22 AMER1 BMP2 CLCN7 COL1A1 CTSK DKK1
7 skeleton MP:0005390 10.19 AMER1 BMP2 CA2 CLCN7 COL1A1 CTSK
8 normal MP:0002873 10.16 BMP2 CLCN7 COL1A1 IGFBP2 LRP5 SOST
9 respiratory system MP:0005388 9.92 CA2 CLCN7 COL1A1 CTSK DKK1 SP7
10 hematopoietic system MP:0005397 9.83 AMER1 ATP4A BMP2 CLCN7 COL1A1 CTSK
11 vision/eye MP:0005391 9.81 CLCN7 COL1A1 DKK1 LRP5 OSTM1 PTH
12 mortality/aging MP:0010768 9.5 AMER1 ATP4A BMP2 CA2 CLCN7 COL1A1

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
2
Salicylic acid Approved, Investigational, Vet_approved 69-72-7 338

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Evaluation of Enamel Matrix Derivative on the Bone Regenerative Potential of the Dental Implant With Transcrestal Sinus Lifting Technique: Randomized-Controlled CBCT Study Completed NCT05507047 Phase 4 Enamel Matrix Protein
2 Effects of Soy Isoflavone on Bone Health Among Saudi Female Students Imam Abdulrahman Bin Faisal University. Completed NCT04547010 Phase 3
3 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
4 Subperiosteal Minimally Invasive Aesthetic Ridge Augmentation Technique With and Without Low Level Laser Therapy: A Comparative Clinical Trial Completed NCT04190576
5 Effects of Virtual Reality Exercises on Total Body Fat Ratio and Bone Health in Children With Acute Lymphoblastic Leukemia at Remitted Completed NCT04015882
6 Influence of Low-level Laser Therapy on Radiographic and Biochemical Profiles in Type II Controlled Diabetic Patients After Dental Implant Insertion: A Randomized Case Control Study Completed NCT05279911
7 Effects of Yili Child Formula Milk on Bone Health in 4-6 Year Children: a 12-month Randomized Controlled Trial Enrolling by invitation NCT05074836

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 28 LRP5

Anatomical Context for Endosteal Hyperostosis, Autosomal Dominant

Organs/tissues related to Endosteal Hyperostosis, Autosomal Dominant:

FMA: Palate
MalaCards : Bone, Cortex, Bone Marrow, Myeloid, Prostate, Spinal Cord, Breast

Publications for Endosteal Hyperostosis, Autosomal Dominant

Articles related to Endosteal Hyperostosis, Autosomal Dominant:

(show top 50) (show all 1504)
# 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. 53 62 57 5
12579474 2003
2
Differential diagnosis and treatment of autosomal dominant osteosclerosis of the mandible. 62 57 5
11883972 2002
3
[Van Buchem disease. Maxillofacial changes, diagnostic classification and general principles of treatment]. 62 57 5
10434540 1999
4
Dominant endosteal hyperostosis. Skeletal characteristics and review of the literature. 57 5
11701785 2001
5
Endosteal hyperostosis. 57 5
1002767 1976
6
Neurological involvement in Worth type endosteal hyperostosis: report of a family. 62 57
8030669 1994
7
Autosomal dominant endosteal hyperostosis. Report of a Spanish family with neurological involvement. 62 57
3568443 1987
8
Autosomal dominant osteosclerosis. 62 57
198847 1977
9
Autosomal dominant osteosclerosis. 62 57
198844 1977
10
Idiopathic osteosclerosis. A report of 6 related cases. 62 57
5635141 1968
11
High bone density due to a mutation in LDL-receptor-related protein 5. 5
12015390 2002
12
Van Buchem's disease (hyperostosis corticalis generalisata) 57
181111 1976
13
Van Buchem's disease (hyperostosis corticalis generalisata familiaris). A case report. 57
4339940 1972
14
[Generalized hyperostosis corticalis (dominant transmission) (Worth's type)]. 57
4942110 1971
15
Hyperostosis corticalis generalisata congenita. 57
5329553 1966
16
Mechanisms of the anabolic effects of teriparatide on bone: insight from the treatment of a patient with pycnodysostosis. 53 62
18302508 2008
17
Proteasome inhibitor bortezomib impairs both myelofibrosis and osteosclerosis induced by high thrombopoietin levels in mice. 53 62
17374740 2007
18
Osteoporosis and osteosclerosis in sickle cell/beta-thalassemia: the role of the RANKL/osteoprotegerin axis. 53 62
16704959 2006
19
Osteosclerosis in advanced chronic idiopathic myelofibrosis is associated with endothelial overexpression of osteoprotegerin. 53 62
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. 53 62
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. 53 62
15726648 2005
22
Osteosclerosis in idiopathic myelofibrosis is related to the overproduction of osteoprotegerin (OPG). 53 62
15504545 2004
23
[Fluoride toxicity]. 53 62
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. 53 62
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. 53 62
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. 53 62
12162999 2002
27
Hyperparathyroidism and increased serum IGF-binding protein-2 levels in hepatitis C-associated osteosclerosis. 53 62
9920116 1999
28
[Thrombopoietin is a multifunctional factor]. 53 62
9369068 1997
29
Debilitating hip degeneration in trichothiodystrophy: Association with ERCC2/XPD mutations, osteosclerosis, osteopenia, coxa valga, contractures, and osteonecrosis. 62
36103153 2022
30
HIF-1α-mediated autophagy and canonical Wnt/β-catenin signalling activation are involved in fluoride-induced osteosclerosis in rats. 62
36220573 2022
31
To be or not to be heavier: The role of dermal bones in the buoyancy of the Late Triassic temnospondyl amphibian Metoposaurus krasiejowensis. 62
36165276 2022
32
Regulation of Wnt signaling by non-coding RNAs during osteoblast differentiation. 62
36370525 2022
33
Myelofibrosis progression grading based on type-I and type-III collagen and fibrillin-1 expression boosted by whole slide image analysis. 62
36416374 2022
34
Prenatal ultrasonographic features in Blomstrand osteochondrodysplasia: Antenatal case series confirmed by postmortem radiology and molecular diagnosis. 62
35808914 2022
35
Osteopetrosis: Gene-based nosology and significance Dysosteosclerosis. 62
36402365 2022
36
Denosumab Can Prevent Collapse in Patients with Early-Stage Steroid-Induced Osteonecrosis of the Femoral Head by Inhibiting Osteoclasts and Autophagy. 62
36398455 2022
37
Rare Bone Metastasis of Neuroendocrine Tumors of Unknown Origin: A Case Report and Literature Review. 62
35856167 2022
38
Erdheim-Chester disease long-bone osteosclerosis can be reproduced with a xenografted mouse model and its pathogenesis may involve dysregulation of bone metabolism key cytokines. 62
35998913 2022
39
How Has Molecular Biology Enhanced Our Undertaking of axSpA and Its Management. 62
36308677 2022
40
Outcome of re-operation for local recurrence following pre-operative denosumab administration and curettage for giant cell tumour of bone with difficult joint preservation. 62
36282294 2022
41
Lipoteichoic Acid and Lipopolysaccharides Are Affected by p38 and Inflammatory Markers and Modulate Their Promoting and Inhibitory Effects on Osteogenic Differentiation. 62
36293485 2022
42
Image-guided percutaneous biopsy and pathological diagnosis in atypical tuberculous spondylitis: a case series and clinical outcomes. 62
36388828 2022
43
Bone characteristics in condylar hyperplasia of the temporomandibular joint: a microcomputed tomography, histology, and Raman microspectrometry study. 62
36180268 2022
44
Systematic lymphatic abnormality-related osseous lesions: a study based on CT lymphangiography. 62
36060599 2022
45
Resveratrol protection against IL-1β-induced chondrocyte damage via the SIRT1/FOXO1 signaling pathway. 62
36064420 2022
46
Cranial and vertebral osteosarcoma commonly has T2 signal heterogeneity, contrast enhancement, and osteolysis on MRI: A case series of 35 dogs. 62
35452145 2022
47
A DEEP-LEARNING MODEL FOR IDIOPATHIC OSTEOSCLEROSIS DETECTION ON PANORAMIC RADIOGRAPHS. 62
36167054 2022
48
Inhibition of interleukin-1β reduces myelofibrosis and osteosclerosis in mice with JAK2-V617F driven myeloproliferative neoplasm. 62
36100613 2022
49
Dysosteosclerosis: Clinical and Radiological Evolution Reflecting Genetic Heterogeneity. 62
35991533 2022
50
Cathepsin K Mutation-A Subtle Clinical Presentation. 62
35854980 2022

Variations for Endosteal Hyperostosis, Autosomal Dominant

ClinVar genetic disease variations for Endosteal Hyperostosis, Autosomal Dominant:

5 (show all 42)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LRP5 NM_002335.4(LRP5):c.640G>A (p.Ala214Thr) SNV Pathogenic
6283 rs121908671 GRCh37: 11:68125269-68125269
GRCh38: 11:68357801-68357801
2 LRP5 NM_002335.4(LRP5):c.641C>T (p.Ala214Val) SNV Pathogenic
6284 rs121908672 GRCh37: 11:68125270-68125270
GRCh38: 11:68357802-68357802
3 LRP5 NM_002335.4(LRP5):c.2555C>T (p.Thr852Met) SNV Likely Pathogenic
1179140 GRCh37: 11:68181208-68181208
GRCh38: 11:68413740-68413740
4 CLCN7 NM_001287.6(CLCN7):c.856C>T (p.Arg286Trp) SNV Likely Pathogenic
1068483 GRCh37: 16:1506174-1506174
GRCh38: 16:1456173-1456173
5 LRP5 NM_002335.4(LRP5):c.512G>T (p.Gly171Val) SNV Likely Pathogenic
6280 rs121908668 GRCh37: 11:68125141-68125141
GRCh38: 11:68357673-68357673
6 LRP5 NM_002335.4(LRP5):c.724G>A (p.Ala242Thr) SNV Likely Pathogenic
6282 rs121908670 GRCh37: 11:68131252-68131252
GRCh38: 11:68363784-68363784
7 CLCN7 NM_001287.6(CLCN7):c.2030G>T (p.Gly677Val) SNV Uncertain Significance
1482073 GRCh37: 16:1497699-1497699
GRCh38: 16:1447698-1447698
8 CLCN7 NM_001287.6(CLCN7):c.689A>G (p.Lys230Arg) SNV Uncertain Significance
1478516 GRCh37: 16:1507744-1507744
GRCh38: 16:1457743-1457743
9 TCIRG1 NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr) SNV Uncertain Significance
235702 rs140963213 GRCh37: 11:67814983-67814983
GRCh38: 11:68047516-68047516
10 LRP5 NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) SNV Uncertain Significance
183255 rs61889560 GRCh37: 11:68191036-68191036
GRCh38: 11:68423568-68423568
11 CLCN7 NM_001287.6(CLCN7):c.698_712dup (p.Ser237_Val238insGlyValIleLeuSer) DUP Uncertain Significance
1701975 GRCh37: 16:1507720-1507721
GRCh38: 16:1457719-1457720
12 TNFSF11 NM_003701.4(TNFSF11):c.704A>G (p.Tyr235Cys) SNV Uncertain Significance
1701974 GRCh37: 13:43180804-43180804
GRCh38: 13:42606668-42606668
13 LRP5 NM_002335.4(LRP5):c.316G>C (p.Gly106Arg) SNV Uncertain Significance
1333885 GRCh37: 11:68115539-68115539
GRCh38: 11:68348071-68348071
14 LRP5 NM_002335.4(LRP5):c.1199C>T (p.Ala400Val) SNV Uncertain Significance
520692 rs201320326 GRCh37: 11:68153967-68153967
GRCh38: 11:68386499-68386499
15 CLCN7 NM_001287.6(CLCN7):c.857G>A (p.Arg286Gln) SNV Uncertain Significance
438670 rs760956030 GRCh37: 16:1506173-1506173
GRCh38: 16:1456172-1456172
16 TNFRSF11A NM_003839.4(TNFRSF11A):c.1618A>G (p.Met540Val) SNV Uncertain Significance
327738 rs117028614 GRCh37: 18:60052034-60052034
GRCh38: 18:62384801-62384801
17 CLCN7 NM_001287.6(CLCN7):c.1354-7C>T SNV Likely Benign
317948 rs41286691 GRCh37: 16:1501724-1501724
GRCh38: 16:1451723-1451723
18 LRP5 NM_002335.4(LRP5):c.34CTG[6] (p.Leu18_Leu20del) MICROSAT Likely Benign
204504 rs72555376 GRCh37: 11:68080215-68080223
GRCh38: 11:68312747-68312755
19 LRP5 NM_002335.4(LRP5):c.687-8G>A SNV Likely Benign
197206 rs190810239 GRCh37: 11:68131207-68131207
GRCh38: 11:68363739-68363739
20 LRP5 NM_002335.4(LRP5):c.4089C>T (p.Asp1363=) SNV Likely Benign
194943 rs3736229 GRCh37: 11:68204445-68204445
GRCh38: 11:68436977-68436977
21 LRP5 NM_002335.4(LRP5):c.4635C>T (p.Thr1545=) SNV Likely Benign
36482 rs145406397 GRCh37: 11:68216325-68216325
GRCh38: 11:68448857-68448857
22 LRP5 NM_002335.4(LRP5):c.1999G>A (p.Val667Met) SNV Benign
6276 rs4988321 GRCh37: 11:68174189-68174189
GRCh38: 11:68406721-68406721
23 PLEKHM1 NM_014798.3(PLEKHM1):c.2913G>A (p.Gly971=) SNV Benign
1291719 GRCh37: 17:43516989-43516989
GRCh38: 17:45439623-45439623
24 LRP5 NM_002335.4(LRP5):c.4000+9C>T SNV Benign
36481 rs148685646 GRCh37: 11:68201315-68201315
GRCh38: 11:68433847-68433847
25 LRP5 NM_002335.4(LRP5):c.4000+10T>A SNV Benign
194836 rs116068042 GRCh37: 11:68201316-68201316
GRCh38: 11:68433848-68433848
26 TCIRG1 NM_006019.4(TCIRG1):c.1672G>C (p.Val558Leu) SNV Benign
194393 rs35089741 GRCh37: 11:67816463-67816463
GRCh38: 11:68048996-68048996
27 LRP5 NM_002335.4(LRP5):c.2220C>T (p.Asn740=) SNV Benign
193639 rs2306862 GRCh37: 11:68177510-68177510
GRCh38: 11:68410042-68410042
28 CLCN7 NM_001287.6(CLCN7):c.900G>A (p.Ala300=) SNV Benign
193627 rs41286695 GRCh37: 16:1506130-1506130
GRCh38: 16:1456129-1456129
29 TNFSF11 NM_003701.4(TNFSF11):c.80A>G (p.Glu27Gly) SNV Benign
193256 rs200788562 GRCh37: 13:43148519-43148519
GRCh38: 13:42574383-42574383
30 CLCN7 NM_001287.6(CLCN7):c.1252G>A (p.Val418Met) SNV Benign
65634 rs12926089 GRCh37: 16:1502857-1502857
GRCh38: 16:1452856-1452856
31 TNFSF11 NM_003701.4(TNFSF11):c.924T>C (p.Phe308=) SNV Benign
312237 rs9562415 GRCh37: 13:43181024-43181024
GRCh38: 13:42606888-42606888
32 TNFSF11 NM_003701.4(TNFSF11):c.239C>T (p.Ser80Leu) SNV Benign
312231 rs138974661 GRCh37: 13:43155281-43155281
GRCh38: 13:42581145-42581145
33 TNFSF11 NM_003701.4(TNFSF11):c.107C>G (p.Pro36Arg) SNV Benign
312229 rs138818878 GRCh37: 13:43148546-43148546
GRCh38: 13:42574410-42574410
34 TCIRG1 NM_006019.4(TCIRG1):c.166C>T (p.Arg56Trp) SNV Benign
305782 rs36027301 GRCh37: 11:67809268-67809268
GRCh38: 11:68041801-68041801
35 TNFRSF11A NM_003839.4(TNFRSF11A):c.575C>T (p.Ala192Val) SNV Benign
259182 rs1805034 GRCh37: 18:60027241-60027241
GRCh38: 18:62360008-62360008
36 LRP5 NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val) SNV Benign
258640 rs3736228 GRCh37: 11:68201295-68201295
GRCh38: 11:68433827-68433827
37 CLCN7 NM_001287.6(CLCN7):c.1798-10C>T SNV Benign
257953 rs35939214 GRCh37: 16:1498777-1498777
GRCh38: 16:1448776-1448776
38 TNFSF11 NM_003701.4(TNFSF11):c.396A>G (p.Gln132=) SNV Benign
716176 rs34151971 GRCh37: 13:43174896-43174896
GRCh38: 13:42600760-42600760
39 TNFRSF11A NM_003839.4(TNFRSF11A):c.421C>T (p.His141Tyr) SNV Benign
327729 rs35211496 GRCh37: 18:60021761-60021761
GRCh38: 18:62354528-62354528
40 CLCN7 NM_001287.6(CLCN7):c.350C>T (p.Thr117Met) SNV Benign
317963 rs201003681 GRCh37: 16:1511407-1511407
GRCh38: 16:1461406-1461406
41 CLCN7 NM_001287.6(CLCN7):c.696C>T (p.Ser232=) SNV Benign
317957 rs117183989 GRCh37: 16:1507737-1507737
GRCh38: 16:1457736-1457736
42 CLCN7 NM_001287.6(CLCN7):c.801G>A (p.Thr267=) SNV Benign
317954 rs61743590 GRCh37: 16:1507276-1507276
GRCh38: 16:1457275-1457275

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 GeneCards Suite gene sharing:

(show all 13)
# Super pathways Score Top Affiliating Genes
1 13.56 TCIRG1 SOST PTH LRP5 LEMD3 DKK1
2
Show member pathways
12.28 TCIRG1 OSTM1 CLCN7 ATP4A
3 12.05 TNFSF11 TNFRSF11B PTH LRP5
4
Show member pathways
11.77 SOST LRP5 DKK1
5 11.71 THPO SP7 PTH BMP2
6
Show member pathways
11.67 BMP2 CTSK LEMD3 TNFRSF11B
7 11.31 TNFSF11 TNFRSF11B PTH COL1A1 CA2
8 11.21 TNFSF11 PTH IBSP COL1A1
9 11.18 TNFSF11 TNFRSF11B SP7 SOST PTH LRP5
10 11.15 SP7 SOST DKK1
11
Show member pathways
10.87 SOST LRP5 DKK1
12 10.87 TNFSF11 TNFRSF11B SP7 LRP5 COL1A1
13 10.5 TNFSF11 TCIRG1 OSTM1 CLCN7

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 10 TNFSF11 TNFRSF11B THPO SOST PTH IGFBP2
2 extracellular space GO:0005615 9.7 ATP4A BMP2 COL1A1 CTSK DKK1 IBSP

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 response to xenobiotic stimulus GO:0009410 10.19 ATP4A COL1A1 IGFBP2 PTH TNFRSF11B
2 skeletal system development GO:0001501 10.15 TNFRSF11B PTH COL1A1 BMP2
3 osteoblast differentiation GO:0001649 10.11 SP7 IBSP COL1A1 BMP2
4 negative regulation of BMP signaling pathway GO:0030514 10.09 SOST LEMD3 DKK1
5 response to mechanical stimulus GO:0009612 10.05 SOST IGFBP2 COL1A1
6 bone mineralization GO:0030282 10.04 BMP2 IBSP PTH
7 negative regulation of canonical Wnt signaling pathway GO:0090090 10.02 AMER1 BMP2 DKK1 IGFBP2 SOST
8 response to nutrient GO:0007584 10 TNFRSF11B IGFBP2 COL1A1
9 Wnt signaling pathway GO:0016055 9.98 SOST LRP5 DKK1 BMP2 AMER1
10 response to insulin GO:0032868 9.95 SP7 IGFBP2 CTSK COL1A1
11 response to organic cyclic compound GO:0014070 9.93 SP7 IGFBP2 CTSK COL1A1
12 cellular response to zinc ion starvation GO:0034224 9.9 SP7 CTSK
13 transepithelial chloride transport GO:0030321 9.89 OSTM1 CLCN7
14 negative regulation of cardiac muscle cell differentiation GO:2000726 9.88 DKK1 BMP2
15 intramembranous ossification GO:0001957 9.86 CTSK COL1A1
16 osteoclast differentiation GO:0030316 9.86 TNFSF11 TCIRG1 OSTM1 BMP2
17 bone development GO:0060348 9.85 TNFSF11 LRP5 BMP2 AMER1
18 pH reduction GO:0045851 9.84 TCIRG1 ATP4A
19 osteoclast proliferation GO:0002158 9.83 TNFSF11 TCIRG1
20 regulation of proton transport GO:0010155 9.78 TCIRG1 ATP4A
21 tooth eruption GO:0044691 9.63 TNFSF11 TCIRG1 COL1A1
22 bone resorption GO:0045453 9.56 TNFSF11 TCIRG1 PTH CTSK
23 ossification GO:0001503 9.32 TNFSF11 TCIRG1 SOST IBSP COL1A1 BMP2

Sources for Endosteal Hyperostosis, Autosomal Dominant

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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