MCID: HYP299
MIFTS: 49

Hyperostosis, Endosteal malady

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

Aliases & Classifications for Hyperostosis, Endosteal

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Sources:
49OMIM, 11diseasecard, 10Disease Ontology, 47Novoseek, 12DISEASES, 36MeSH, 65UMLS, 45NIH Rare Diseases, 51Orphanet, 67UniProtKB/Swiss-Prot, 22GeneTests, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Hyperostosis, Endosteal:

Name: Hyperostosis, Endosteal 49 11
Osteosclerosis 49 10 47 12 36 65
Endosteal Hyperostosis, Worth Type 45 51 67
Worth Syndrome 45 51 67
Autosomal Dominant Osteosclerosis, Worth Type 45 51
Osteosclerosis, Autosomal Dominant 45 47
Hyperostosis Corticalis Generalisata, Benign Form of Worth, with Torus Palatinus 22
 
Hyperostosis Corticalis Generalisata, Benign Form of Worth with Torus Palatinus 45
Hyperostosis Corticalis Generalisata Benign Form of Worth with Torus Palatinus 67
Osteosclerosis, Autosomal Dominant, Worth Type 45
Endosteal Hyperostosis, Autosomal Dominant 45
Endosteal Hyperostosis Autosomal Dominant 67
Osteosclerosis Autosomal Dominant 67
Wenhy 67

Characteristics:

Orphanet epidemiological data:

51
endosteal hyperostosis, worth type:
Inheritance: Autosomal dominant

HPO:

61
hyperostosis, endosteal:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 144750
Disease Ontology10 DOID:4254
ICD1027 Q78.2
NCIt42 C41236
SNOMED-CT59 49347007
Orphanet51 2790
ICD10 via Orphanet28 Q78.2
UMLS via Orphanet66 C0432273, C2931308
MedGen34 C0432273
UMLS65 C0029464

Summaries for Hyperostosis, Endosteal

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UniProtKB/Swiss-Prot:67 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.

MalaCards based summary: Hyperostosis, Endosteal, also known as osteosclerosis, is related to pycnodysostosis and van buchem disease, type 2, and has symptoms including torus palatinus, craniofacial hyperostosis and abnormal cortical bone morphology. An important gene associated with Hyperostosis, Endosteal is LRP5 (LDL Receptor Related Protein 5), and among its related pathways are Osteoblast Signaling and Osteoclast Signaling. Affiliated tissues include bone, lung and cortex, and related mouse phenotypes are endocrine/exocrine gland and cellular.

Disease Ontology:10 A bone remodeling disease that results in abnormal elevated bone density or mass.

Description from OMIM:49 144750

Related Diseases for Hyperostosis, Endosteal

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

(show top 50)    (show all 129)
idRelated DiseaseScoreTop Affiliating Genes
1pycnodysostosis30.4CLCN7, CTSK
2van buchem disease, type 225.0ATP6V0A2, BMP2, CA2, CLCN7, CSF1, CTSK
3osteosclerosis with ichthyosis and premature ovarian failure12.0
4osteosclerosis abnormalities of nervous system and meninges11.9
5osteosclerosis-developmental delay-craniosynostosis syndrome11.9
6osteomesopyknosis11.6
7osteopetrosis11.4
8raine syndrome11.4
9craniofacial dysostosis with diaphyseal hyperplasia11.1
10achondroplasia11.0
11worth's syndrome10.8
12cote katsantoni syndrome10.8
13foix-alajouanine syndrome10.8
14hemorrhagic fever10.6TNFRSF11B, TNFSF11
15paget disease of bone 2, early-onset10.6TNFRSF11B, TNFSF11
16degenerative myopia10.6TNFRSF11B, TNFSF11
17obsessive-compulsive disorder10.6CLCN7, TNFSF11
18tibial hemimelia10.5TNFRSF11B, TNFSF11
19familial mediterranean fever, ar10.5CLCN7, TNFSF11
20paracoccidioidomycosis10.5BMP2, TNFSF11
21polycystic bone disease10.5TNFRSF11B, TNFSF11
22collagenopathy, types ii and xi10.4CTSK, TNFRSF11B, TNFSF11
23intrahepatic biliary papillomatosis10.4TNFRSF11B, TNFSF11
24marcus gunn phenomenon10.4CTSK, TNFRSF11B, TNFSF11
25gait apraxia10.4LEMD3, LRP5
26foster-kennedy syndrome10.4CTSK, TNFRSF11B, TNFSF11
27bone structure disease10.4BMP2, TNFRSF11B, TNFSF11
28ethmoid sinus cancer10.4BMP2, TNFSF11
29ceroid lipofuscinosis, neuronal, 610.3BMP2, TNFRSF11B, TNFSF11
30melorheostosis10.3
31hepatitis10.3
32spastic paraplegia-epilepsy-intellectual disability syndrome10.3CLCN7, TCIRG1, TNFSF11
33hepatitis c10.3
34dicrocoeliasis10.3BMP2, TNFRSF11B
35myelofibrosis10.2
36hyperparathyroidism10.2
37mucocele of appendix10.2BMP2, CTSK, TNFRSF11B, TNFSF11
38otosalpingitis10.2CSF1, CTSK, TNFSF11
39leukemia10.1
40myeloma10.1
41pulmonary neuroendocrine tumor10.1CSF1, TNFRSF11B, TNFSF11
42multiple myeloma10.1
43acrodermatitis chronica atrophicans10.0TNFRSF11B, TNFSF11
44primary hyperparathyroidism10.0
45rectosigmoid junction neoplasm10.0CSF1, TNFSF11
46osteopetrosis, autosomal dominant 110.0
47chromosomal disease9.9BMP2, CTSK, LRP5, TNFRSF11B, TNFSF11
48small cell cancer of the lung, somatic9.9BMP2, IGF2, TNFRSF11B, TNFSF11
49prostatitis9.9
50bone diseases9.9

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



Diseases related to hyperostosis, endosteal

Symptoms for Hyperostosis, Endosteal

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Symptoms by clinical synopsis from OMIM:

144750

Clinical features from OMIM:

144750

Symptoms:

 51 (show all 14)
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • palate exostoses/torus palatinus
  • clavicle absent/abnormal
  • anomalies of the ribs
  • osteosclerosis/osteopetrosis/bone condensation
  • enlarged diaphysis/diaphyses
  • cortical anomaly/thick bone cortical layer
  • autosomal dominant inheritance
  • enlargment of jaw/large jaw
  • abnormal vertebral size/shape
  • facial palsy
  • prognathism/prognathia
  • nystagmus
  • sensorineural deafness/hearing loss

HPO human phenotypes related to Hyperostosis, Endosteal:

(show all 20)
id Description Frequency HPO Source Accession
1 torus palatinus hallmark (90%) HP:0100789
2 craniofacial hyperostosis hallmark (90%) HP:0004493
3 abnormal cortical bone morphology hallmark (90%) HP:0003103
4 abnormality of the ribs hallmark (90%) HP:0000772
5 abnormal form of the vertebral bodies typical (50%) HP:0003312
6 facial palsy occasional (7.5%) HP:0010628
7 nystagmus occasional (7.5%) HP:0000639
8 sensorineural hearing impairment occasional (7.5%) HP:0000407
9 mandibular prognathia occasional (7.5%) HP:0000303
10 clavicular sclerosis HP:0100923
11 vertebral body sclerosis HP:0100861
12 torus palatinus HP:0100789
13 metatarsal diaphyseal endosteal sclerosis HP:0008114
14 metacarpal diaphyseal endosteal sclerosis HP:0006174
15 flat forehead HP:0004425
16 abnormality of pelvic girdle bone morphology HP:0002644
17 growth abnormality HP:0001507
18 thickened cortex of long bones HP:0000935
19 dental malocclusion HP:0000689
20 sensorineural hearing impairment HP:0000407

Drugs & Therapeutics for Hyperostosis, Endosteal

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hyperostosis, Endosteal


Cochrane evidence based reviews: osteosclerosis

Genetic Tests for Hyperostosis, Endosteal

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Genetic tests related to Hyperostosis, Endosteal:

id Genetic test Affiliating Genes
1 Hyperostosis Corticalis Generalisata, Benign Form of Worth, with Torus Palatinus22 LRP5

Anatomical Context for Hyperostosis, Endosteal

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MalaCards organs/tissues related to Hyperostosis, Endosteal:

33
Bone, Lung, Cortex, Breast, B cells, Prostate, Appendix

Animal Models for Hyperostosis, Endosteal or affiliated genes

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MGI Mouse Phenotypes related to Hyperostosis, Endosteal:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.0CA2, CSF1, CTSK, IGF2, LRP5, TCIRG1
2MP:00053847.7BMP2, CLCN7, CSF1, CTSK, IGF2, LEMD3
3MP:00053827.3BMP2, CLCN7, CSF1, CTSK, IGF2, LRP5
4MP:00053716.9BMP2, CLCN7, CSF1, CTSK, IGF2, LRP5
5MP:00053766.8BMP2, CA2, CLCN7, CSF1, CTSK, IGF2
6MP:00053976.5BMP2, CLCN7, CSF1, CTSK, IGF2, LRP5
7MP:00053786.4BMP2, CA2, CLCN7, CSF1, CTSK, IGF2
8MP:00107686.3BMP2, CA2, CLCN7, CSF1, IGF2, LEMD3
9MP:00053875.9BMP2, CA2, CLCN7, CSF1, CTSK, IGF2
10MP:00053905.7BMP2, CA2, CLCN7, CSF1, CTSK, IGF2

Publications for Hyperostosis, Endosteal

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Variations for Hyperostosis, Endosteal

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

67
id Symbol AA change Variation ID SNP ID
1LRP5p.Ala214ThrVAR_021810
2LRP5p.Ala214ValVAR_021811
3LRP5p.Ala242ThrVAR_021812

Clinvar genetic disease variations for Hyperostosis, Endosteal:

5
id Gene Variation Type Significance SNP ID Assembly Location
1LRP5NM_002335.3(LRP5): c.724G> A (p.Ala242Thr)single nucleotide variantPathogenicrs121908670GRCh37Chr 11, 68131252: 68131252
2LRP5NM_002335.3(LRP5): c.640G> A (p.Ala214Thr)single nucleotide variantPathogenicrs121908671GRCh37Chr 11, 68125269: 68125269
3LRP5NM_002335.3(LRP5): c.641C> T (p.Ala214Val)single nucleotide variantPathogenicrs121908672GRCh37Chr 11, 68125270: 68125270

Expression for genes affiliated with Hyperostosis, Endosteal

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

Pathways for genes affiliated with Hyperostosis, Endosteal

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GO Terms for genes affiliated with Hyperostosis, Endosteal

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

idNameGO IDScoreTop Affiliating Genes
1lysosomal membraneGO:00057658.6ATP6V0A2, OSTM1, PLEKHM1, TCIRG1

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1bone resorptionGO:004545310.4CTSK, TNFSF11
2positive regulation of osteoblast proliferationGO:003369010.4BMP2, LRP5
3osteoclast proliferationGO:000215810.1CSF1, TNFSF11
4osteoclast differentiationGO:003031610.1CSF1, TNFSF11
5ATP synthesis coupled proton transportGO:00159869.9ATP6V0A2, TCIRG1
6phagosome acidificationGO:00903839.8ATP6V0A2, TCIRG1
7ATP hydrolysis coupled proton transportGO:00159919.8ATP6V0A2, TCIRG1
8positive regulation of bone resorptionGO:00457809.6CA2, TNFSF11
9positive regulation of protein kinase B signalingGO:00518979.5IGF2, THPO, TNFSF11
10ossificationGO:00015039.3CSF1, IGF2, TNFSF11
11positive regulation of protein phosphorylationGO:00019349.1BMP2, IGF2, THPO
12positive regulation of osteoclast differentiationGO:00456729.0CA2, CSF1, TNFSF11
13ion transmembrane transportGO:00342208.9ATP6V0A2, CLCN7, OSTM1, TCIRG1

Sources for Hyperostosis, Endosteal

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet