MCID: HYP299
MIFTS: 44

Hyperostosis, Endosteal

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

Aliases & Classifications for Hyperostosis, Endosteal

MalaCards integrated aliases for Hyperostosis, Endosteal:

Name: Hyperostosis, Endosteal 54 13
Osteosclerosis 54 12 52 42 14 69
Endosteal Hyperostosis, Worth Type 50 56 71
Worth Syndrome 50 56 71
Autosomal Dominant Osteosclerosis, Worth Type 50 56
Osteosclerosis, Autosomal Dominant 50 52
Hyperostosis Corticalis Generalisata, Benign Form of Worth, with Torus Palatinus 24
Hyperostosis Corticalis Generalisata, Benign Form of Worth with Torus Palatinus 50
Hyperostosis Corticalis Generalisata Benign Form of Worth with Torus Palatinus 71
Osteosclerosis, Autosomal Dominant, Worth Type 50
Endosteal Hyperostosis, Autosomal Dominant 50
Endosteal Hyperostosis Autosomal Dominant 71
Osteosclerosis Autosomal Dominant 71
Wenhy 71

Characteristics:

Orphanet epidemiological data:

56
autosomal dominant osteosclerosis, worth type
Inheritance: Autosomal dominant;

OMIM:

54
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
hyperostosis, endosteal:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 144750
Disease Ontology 12 DOID:4254
ICD10 33 Q78.2
NCIt 47 C41236
SNOMED-CT 64 49347007
Orphanet 56 ORPHA2790
UMLS via Orphanet 70 C0432273 C2931308
ICD10 via Orphanet 34 Q78.2
MedGen 40 C0432273
UMLS 69 C0029464

Summaries for Hyperostosis, Endosteal

NIH Rare Diseases : 50 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. last updated: 11/15/2009

MalaCards based summary : Hyperostosis, Endosteal, also known as osteosclerosis, is related to pycnodysostosis and van buchem disease, type 2, and has symptoms including nystagmus, sensorineural hearing impairment and facial palsy. An important gene associated with Hyperostosis, Endosteal 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 craniofacial and growth/size/body region

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

UniProtKB/Swiss-Prot : 71 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.

Description from OMIM: 144750

Related Diseases for Hyperostosis, Endosteal

Diseases related to Hyperostosis, Endosteal via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 130)
id Related Disease Score Top Affiliating Genes
1 pycnodysostosis 31.7 CLCN7 CTSK
2 van buchem disease, type 2 24.5 AMER1 ATP6V0A2 BMP2 CLCN7 CSF1 CTSK
3 osteosclerosis with ichthyosis and premature ovarian failure 11.9
4 osteosclerosis abnormalities of nervous system and meninges 11.8
5 osteosclerosis-developmental delay-craniosynostosis syndrome 11.8
6 raine syndrome 11.7
7 osteomesopyknosis 11.6
8 osteopetrosis 11.5
9 osteopoikilosis 11.0
10 dysosteosclerosis 11.0
11 melorheostosis 11.0
12 craniofacial dysostosis with diaphyseal hyperplasia 11.0
13 osteopetrosis, autosomal dominant 1 10.9
14 osteopathia striata with cranial sclerosis 10.8
15 worth's syndrome 10.7
16 foix-alajouanine syndrome 10.7
17 achondroplasia 10.7
18 cote katsantoni syndrome 10.7
19 polyembryoma 10.7 TNFRSF11B TNFSF11
20 lenz-majewski hyperostotic dwarfism 10.7
21 robinow syndrome 10.7
22 craniodiaphyseal dysplasia 10.7
23 axial osteomalacia 10.7
24 robinow syndrome, autosomal dominant 2 10.7
25 osteopetrosis, autosomal dominant 2 10.7
26 camurati-engelmann disease 10.7
27 craniometaphyseal dysplasia 10.7
28 hyperostosis cranialis interna 10.7
29 lipodystrophy 10.7
30 tibial hemimelia 10.6 TNFRSF11B TNFSF11
31 obsessive-compulsive disorder 10.6 CLCN7 TNFSF11
32 paget disease of bone 2, early-onset 10.6 TNFRSF11B TNFSF11
33 familial mediterranean fever, ar 10.5 CLCN7 TNFSF11
34 hennekam van der horst syndrome 10.5 TNFRSF11B TNFSF11
35 binocular vision disease 10.5 BMP2 TNFSF11
36 metaphyseal anadysplasia 2 10.5 CTSK TNFRSF11B TNFSF11
37 peripheral scars of retina 10.5 TNFRSF11B TNFSF11
38 glossitis 10.5 CTSK TNFRSF11B TNFSF11
39 bone resorption disease 10.4 BMP2 TNFRSF11B TNFSF11
40 neurodegeneration, childhood-onset, with brain atrophy 10.4 CLCN7 PLEKHM1
41 ovarian insufficiency, familial 10.4 BMP2 TNFRSF11B TNFSF11
42 pleomorphic lipoma 10.4 BMP2 CTSK TNFSF11
43 vulva fibroepithelial polyp 10.4 CTSK TNFRSF11B TNFSF11
44 craniosynostosis 7 10.4 BMP2 TNFRSF11B TNFSF11
45 spinocerebellar ataxia 4 10.4 OSTM1 TNFRSF11B TNFSF11
46 lower clivus meningioma 10.3 TNFRSF11B TNFSF11
47 bronchus cancer 10.2 BMP2 CTSK TNFRSF11B TNFSF11
48 cortical blindness 10.2 CSF1 TNFRSF11B TNFSF11
49 hepatitis 10.2
50 hepatitis c 10.2

Graphical network of the top 20 diseases related to Hyperostosis, Endosteal:



Diseases related to Hyperostosis, Endosteal

Symptoms & Phenotypes for Hyperostosis, Endosteal

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Ears:
hearing loss, sensorineural

Head And Neck- Teeth:
malocclusion
tooth loss

Head And Neck- Face:
flattened forehead (adolescence)

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

Growth- Height:
normal height

Skeletal- Limbs:
thickened cortex of long bones

Head And Neck- Mouth:
torus palatinus

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 Hyperostosis, Endosteal:

56 32 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nystagmus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000639
2 sensorineural hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000407
3 facial palsy 56 32 occasional (7.5%) Occasional (29-5%) HP:0010628
4 diaphyseal thickening 56 32 hallmark (90%) Very frequent (99-80%) HP:0005019
5 torus palatinus 56 32 hallmark (90%) Very frequent (99-80%) HP:0100789
6 craniofacial hyperostosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0004493
7 mandibular prognathia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000303
8 abnormal cortical bone morphology 56 32 hallmark (90%) Very frequent (99-80%) HP:0003103
9 generalized osteosclerosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0005789
10 abnormal form of the vertebral bodies 56 32 frequent (33%) Frequent (79-30%) HP:0003312
11 abnormality of the ribs 56 32 hallmark (90%) Very frequent (99-80%) HP:0000772
12 vertebral body sclerosis 56 32 frequent (33%) Frequent (79-30%) HP:0100861
13 clavicular sclerosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0100923
14 flat forehead 32 HP:0004425
15 dental malocclusion 32 HP:0000689
16 thickened cortex of long bones 32 HP:0000935
17 metacarpal diaphyseal endosteal sclerosis 32 HP:0006174
18 metatarsal diaphyseal endosteal sclerosis 32 HP:0008114
19 abnormality of pelvic girdle bone morphology 32 HP:0002644
20 growth abnormality 32 HP:0001507

MGI Mouse Phenotypes related to Hyperostosis, Endosteal:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.21 TNFRSF11B TNFSF11 AMER1 BMP2 CLCN7 CSF1
2 growth/size/body region MP:0005378 10.18 AMER1 BMP2 CLCN7 CSF1 CTSK IGF2
3 hematopoietic system MP:0005397 10.18 AMER1 BMP2 CLCN7 CSF1 CTSK IGF2
4 cellular MP:0005384 10.16 AMER1 BMP2 CLCN7 CSF1 CTSK IGF2
5 homeostasis/metabolism MP:0005376 10.1 AMER1 BMP2 CLCN7 CSF1 CTSK IGF2
6 immune system MP:0005387 10.07 LRP5 OSTM1 SNX10 TCIRG1 THPO TNFRSF11B
7 limbs/digits/tail MP:0005371 9.93 AMER1 BMP2 CLCN7 CSF1 CTSK IGF2
8 mortality/aging MP:0010768 9.73 LRP5 OSTM1 SNX10 TCIRG1 TNFRSF11B TNFSF11
9 skeleton MP:0005390 9.44 AMER1 BMP2 CLCN7 CSF1 CTSK IGF2

Drugs & Therapeutics for Hyperostosis, Endosteal

Search Clinical Trials , NIH Clinical Center for Hyperostosis, Endosteal

Cochrane evidence based reviews: osteosclerosis

Genetic Tests for Hyperostosis, Endosteal

Genetic tests related to Hyperostosis, Endosteal:

id Genetic test Affiliating Genes
1 Hyperostosis Corticalis Generalisata, Benign Form of Worth, with Torus Palatinus 24 LRP5

Anatomical Context for Hyperostosis, Endosteal

MalaCards organs/tissues related to Hyperostosis, Endosteal:

39
Bone, Cortex

Publications for Hyperostosis, Endosteal

Variations for Hyperostosis, Endosteal

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

71
id 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 Hyperostosis, Endosteal:

6
id 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.640G> A (p.Ala214Thr) single nucleotide variant Pathogenic rs121908671 GRCh37 Chromosome 11, 68125269: 68125269
3 LRP5 NM_002335.3(LRP5): c.641C> T (p.Ala214Val) single nucleotide variant Pathogenic rs121908672 GRCh37 Chromosome 11, 68125270: 68125270

Expression for Hyperostosis, Endosteal

Search GEO for disease gene expression data for Hyperostosis, Endosteal.

Pathways for Hyperostosis, Endosteal

Pathways related to Hyperostosis, Endosteal according to GeneCards Suite gene sharing:

id 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 10.4 TNFRSF11B TNFSF11
6 10.34 CTSK TNFRSF11B TNFSF11

GO Terms for Hyperostosis, Endosteal

Cellular components related to Hyperostosis, Endosteal according to GeneCards Suite gene sharing:

id 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 Hyperostosis, Endosteal according to GeneCards Suite gene sharing:

(show all 22)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of protein phosphorylation GO:0001934 9.78 BMP2 IGF2 THPO
2 skeletal system development GO:0001501 9.74 BMP2 IGF2 TNFRSF11B
3 ion transmembrane transport GO:0034220 9.71 ATP6V0A2 CLCN7 OSTM1 TCIRG1
4 positive regulation of protein kinase B signaling GO:0051897 9.63 IGF2 THPO TNFSF11
5 ossification GO:0001503 9.61 BMP2 IGF2 TNFSF11
6 adipose tissue development GO:0060612 9.6 AMER1 LRP5
7 phagosome acidification GO:0090383 9.59 ATP6V0A2 TCIRG1
8 ATP hydrolysis coupled proton transport GO:0015991 9.58 ATP6V0A2 TCIRG1
9 positive regulation of mitotic nuclear division GO:0045840 9.58 IGF2 LRP5
10 regulation of canonical Wnt signaling pathway GO:0060828 9.56 AMER1 LRP5
11 ATP synthesis coupled proton transport GO:0015986 9.55 ATP6V0A2 TCIRG1
12 bone resorption GO:0045453 9.54 CTSK TNFSF11
13 beta-catenin destruction complex disassembly GO:1904886 9.52 AMER1 LRP5
14 positive regulation of osteoclast differentiation GO:0045672 9.51 CSF1 TNFSF11
15 vacuolar acidification GO:0007035 9.48 ATP6V0A2 TCIRG1
16 insulin receptor signaling pathway GO:0008286 9.43 ATP6V0A2 IGF2 TCIRG1
17 positive regulation of osteoblast proliferation GO:0033690 9.37 BMP2 LRP5
18 branching involved in mammary gland duct morphogenesis GO:0060444 9.32 CSF1 LRP5
19 positive regulation of bone resorption GO:0045780 9.19 TNFSF11
20 vacuolar proton-transporting V-type ATPase complex assembly GO:0070072 9.16 ATP6V0A2 TCIRG1
21 osteoclast proliferation GO:0002158 8.96 CSF1 TNFSF11
22 osteoclast differentiation GO:0030316 8.92 CSF1 OSTM1 SNX10 TNFSF11

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

id 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 Hyperostosis, Endosteal

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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