MCID: END081
MIFTS: 47

Endosteal Hyperostosis, Autosomal Dominant

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal 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
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

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 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 and cortex, and related phenotypes are nystagmus and facial palsy

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.

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

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 56)
# Related Disease Score Top Affiliating Genes
1 osteopetrosis, autosomal dominant 2 33.0 CLCN7 TNFSF11
2 pycnodysostosis 31.7 CLCN7 CTSK
3 osteopathia striata with cranial sclerosis 31.5 AMER1 LRP5 TNFRSF11B
4 osteopetrosis 28.9 CLCN7 CSF1 CTSK LRP5 OSTM1 PLEKHM1
5 osteomesopyknosis 12.1
6 distal osteosclerosis 12.1
7 osteosclerosis with ichthyosis and premature ovarian failure 12.0
8 osteosclerosis with ichthyosis and fractures 11.9
9 osteosclerosis abnormalities of nervous system and meninges 11.9
10 osteosclerosis-developmental delay-craniosynostosis syndrome 11.9
11 raine syndrome 11.8
12 camurati-engelmann disease 11.4
13 van buchem disease, type 2 11.4
14 cote katsantoni syndrome 11.2
15 foix-alajouanine syndrome 11.2
16 osteopoikilosis 11.1
17 craniofacial dysostosis with diaphyseal hyperplasia 11.1
18 dysosteosclerosis 11.1
19 melorheostosis 11.1
20 osteopetrosis, autosomal dominant 1 11.0
21 van buchem disease 10.9
22 robinow syndrome 10.9
23 achondroplasia 10.8
24 craniometaphyseal dysplasia, autosomal dominant 10.8
25 lenz-majewski hyperostotic dwarfism 10.8
26 polyarticular onset juvenile idiopathic arthritis 10.7 TNFRSF11B TNFSF11
27 hemophilic arthropathy 10.7 TNFRSF11B TNFSF11
28 osteopetrosis, autosomal recessive 2 10.7 CLCN7 TNFSF11
29 kummell's disease 10.7 TNFRSF11B TNFSF11
30 paget disease of bone 5, juvenile-onset 10.6 TNFRSF11B TNFSF11
31 periodontitis, chronic 10.6 TNFRSF11B TNFSF11
32 chronic apical periodontitis 10.6 TNFRSF11B TNFSF11
33 tooth ankylosis 10.5 BMP2 TNFSF11
34 multicentric carpotarsal osteolysis syndrome 10.5 CTSK TNFRSF11B TNFSF11
35 root resorption 10.5 CTSK TNFRSF11B TNFSF11
36 familial expansile osteolysis 10.5 TNFRSF11B TNFSF11
37 glucocorticoid-induced osteoporosis 10.4 BMP2 TNFRSF11B TNFSF11
38 ischemic bone disease 10.4 BMP2 TNFRSF11B TNFSF11
39 osteomyelitis 10.4 BMP2 CTSK TNFSF11
40 periapical periodontitis 10.4 TNFRSF11B TNFSF11
41 periodontitis 10.4 CTSK TNFRSF11B TNFSF11
42 osteonecrosis 10.4 BMP2 TNFRSF11B TNFSF11
43 aortic valve disease 2 10.4 BMP2 TNFRSF11B TNFSF11
44 mandibular cancer 10.2 CSF1 TNFSF11
45 tooth resorption 10.2 BMP2 CTSK TNFRSF11B TNFSF11
46 multicentric reticulohistiocytosis 10.2 CSF1 TNFRSF11B TNFSF11
47 osteopetrosis, autosomal recessive 6 10.1 CLCN7 PLEKHM1 TCIRG1
48 paget's disease of bone 10.1 CSF1 TNFRSF11B TNFSF11
49 jaw cancer 10.0 CSF1 TNFSF11
50 bone resorption disease 10.0 BMP2 CTSK LRP5 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

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 20)
# 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 vertebral body sclerosis 59 32 frequent (33%) Frequent (79-30%) HP:0100861
12 torus palatinus 59 32 hallmark (90%) Very frequent (99-80%) HP:0100789
13 clavicular sclerosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100923
14 dental malocclusion 32 HP:0000689
15 abnormality of pelvic girdle bone morphology 32 HP:0002644
16 flat forehead 32 HP:0004425
17 thickened cortex of long bones 32 HP:0000935
18 metacarpal diaphyseal endosteal sclerosis 32 HP:0006174
19 metatarsal diaphyseal endosteal sclerosis 32 HP:0008114
20 growth abnormality 32 HP:0001507

MGI Mouse Phenotypes related to Endosteal Hyperostosis, Autosomal Dominant:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.21 CSF1 CTSK IGF2 LRP5 OSTM1 SNX10
2 hematopoietic system MP:0005397 10.21 LRP5 OSTM1 PLEKHM1 SNX10 TCIRG1 THPO
3 cellular MP:0005384 10.2 AMER1 BMP2 CLCN7 CSF1 CTSK IGF2
4 growth/size/body region MP:0005378 10.18 LRP5 OSTM1 SNX10 TCIRG1 TNFRSF11B TNFSF11
5 homeostasis/metabolism MP:0005376 10.1 AMER1 BMP2 CLCN7 CSF1 CTSK IGF2
6 immune system MP:0005387 10.1 AMER1 BMP2 CLCN7 CSF1 CTSK IGF2
7 limbs/digits/tail MP:0005371 9.93 AMER1 BMP2 CLCN7 CSF1 CTSK IGF2
8 mortality/aging MP:0010768 9.73 AMER1 BMP2 CLCN7 CSF1 IGF2 LEMD3
9 skeleton MP:0005390 9.44 AMER1 BMP2 CLCN7 CSF1 CTSK IGF2

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

Publications for Endosteal Hyperostosis, Autosomal Dominant

Articles related to Endosteal Hyperostosis, Autosomal Dominant:

# Title Authors Year
1
Worth syndrome as a diagnosis for mandibular osteosclerosis. ( 22065804 )
2011

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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.12 ATP6V0A2 CLCN7 OSTM1 TCIRG1
2 11.63 ATP6V0A2 CTSK TCIRG1
3 11.56 CSF1 CTSK TNFRSF11B TNFSF11
4 10.98 ATP6V0A2 CSF1 CTSK TCIRG1 TNFSF11
5 10.88 TNFRSF11B TNFSF11
6 10.4 TNFRSF11B TNFSF11
7 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 9.91 BMP2 CSF1 CTSK IGF2 THPO TNFRSF11B
2 endosome membrane GO:0010008 9.46 ATP6V0A2 PLEKHM1 SNX10 TCIRG1
3 vacuolar proton-transporting V-type ATPase complex GO:0016471 9.32 ATP6V0A2 TCIRG1
4 proton-transporting V-type ATPase, V0 domain GO:0033179 9.26 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 26)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein phosphorylation GO:0001934 9.8 BMP2 IGF2 THPO
2 positive regulation of protein kinase B signaling GO:0051897 9.78 IGF2 THPO TNFSF11
3 ion transmembrane transport GO:0034220 9.78 ATP6V0A2 CLCN7 OSTM1 TCIRG1
4 skeletal system development GO:0001501 9.77 BMP2 IGF2 TNFRSF11B
5 animal organ morphogenesis GO:0009887 9.71 BMP2 IGF2 TNFSF11
6 ATP hydrolysis coupled proton transport GO:0015991 9.63 ATP6V0A2 TCIRG1
7 ossification GO:0001503 9.63 BMP2 IGF2 TNFSF11
8 adipose tissue development GO:0060612 9.62 AMER1 LRP5
9 phagosome acidification GO:0090383 9.61 ATP6V0A2 TCIRG1
10 positive regulation of mitotic nuclear division GO:0045840 9.6 IGF2 LRP5
11 ATP synthesis coupled proton transport GO:0015986 9.58 ATP6V0A2 TCIRG1
12 bone resorption GO:0045453 9.58 CTSK TNFSF11
13 beta-catenin destruction complex disassembly GO:1904886 9.57 AMER1 LRP5
14 positive regulation of osteoclast differentiation GO:0045672 9.56 CSF1 TNFSF11
15 positive regulation of bone resorption GO:0045780 9.52 PLEKHM1 TNFSF11
16 regulation of ossification GO:0030278 9.51 CSF1 LRP5
17 insulin receptor signaling pathway GO:0008286 9.5 ATP6V0A2 IGF2 TCIRG1
18 vacuolar acidification GO:0007035 9.49 ATP6V0A2 TCIRG1
19 branching involved in mammary gland duct morphogenesis GO:0060444 9.43 CSF1 LRP5
20 bone development GO:0060348 9.43 AMER1 LRP5 TNFSF11
21 regulation of signaling receptor activity GO:0010469 9.43 BMP2 CSF1 IGF2 THPO TNFRSF11B TNFSF11
22 positive regulation of osteoblast proliferation GO:0033690 9.4 BMP2 LRP5
23 vacuolar proton-transporting V-type ATPase complex assembly GO:0070072 9.37 ATP6V0A2 TCIRG1
24 osteoclast proliferation GO:0002158 9.16 CSF1 TNFSF11
25 osteoclast differentiation GO:0030316 8.92 CSF1 OSTM1 SNX10 TNFSF11
26 multicellular organism development GO:0007275 10.02 BMP2 IGF2 LRP5 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 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 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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