MCID: HYP299
MIFTS: 45

Hyperostosis, Endosteal malady

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

Aliases & Classifications for Hyperostosis, Endosteal

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Sources:
50OMIM, 12diseasecard, 11Disease Ontology, 13DISEASES, 48Novoseek, 37MeSH, 66UMLS, 46NIH Rare Diseases, 52Orphanet, 68UniProtKB/Swiss-Prot, 23GeneTests, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Hyperostosis, Endosteal:

Name: Hyperostosis, Endosteal 50 12
Osteosclerosis 50 11 13 48 37 66
Endosteal Hyperostosis, Worth Type 46 52 68
Worth Syndrome 46 52 68
Autosomal Dominant Osteosclerosis, Worth Type 46 52
Endosteal Hyperostosis, Autosomal Dominant 50 46
Osteosclerosis, Autosomal Dominant 46 48
 
Hyperostosis Corticalis Generalisata, Benign Form of Worth, with Torus Palatinus 23
Hyperostosis Corticalis Generalisata, Benign Form of Worth with Torus Palatinus 46
Hyperostosis Corticalis Generalisata Benign Form of Worth with Torus Palatinus 68
Osteosclerosis, Autosomal Dominant, Worth Type 46
Endosteal Hyperostosis Autosomal Dominant 68
Osteosclerosis Autosomal Dominant 68
Wenhy 68

Characteristics:

Orphanet epidemiological data:

52
endosteal hyperostosis, worth type:
Inheritance: Autosomal dominant

HPO:

62
hyperostosis, endosteal:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 144750
Disease Ontology11 DOID:4254
ICD1028 Q78.2
NCIt43 C41236
SNOMED-CT60 49347007
Orphanet52 ORPHA2790
ICD10 via Orphanet29 Q78.2
UMLS via Orphanet67 C0432273, C2931308
MedGen35 C0432273

Summaries for Hyperostosis, Endosteal

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UniProtKB/Swiss-Prot:68 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 abnormality of the ribs, abnormal cortical bone morphology and craniofacial hyperostosis. 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 and cortex, and related mouse phenotypes are respiratory system and endocrine/exocrine gland.

Disease Ontology:11 A bone remodeling disease that results in abnormal elevated bone density or mass.

Description from OMIM:50 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 136)
idRelated DiseaseScoreTop Affiliating Genes
1pycnodysostosis30.6CLCN7, CTSK
2van buchem disease, type 224.6ANKH, ATP6V0A2, BMP2, CA2, CLCN7, CSF1
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
10achondroplasia10.8
11worth's syndrome10.8
12cote katsantoni syndrome10.8
13foix-alajouanine syndrome10.8
14osteopetrosis, autosomal recessive 710.7TNFRSF11B, TNFSF11
15hemorrhagic shock and encephalopathy syndrome10.6TNFRSF11B, TNFSF11
16tibial hemimelia10.6TNFRSF11B, TNFSF11
17blastomycosis10.6BMP2, TNFSF11
18obsessive-compulsive disorder10.6CLCN7, TNFSF11
19solar retinopathy10.6TNFRSF11B, TNFSF11
20juvenile retinoschisis10.6TNFRSF11B, TNFSF11
21familial mediterranean fever, ad10.6CLCN7, TNFSF11
22inflammatory liposarcoma10.6TNFRSF11B, TNFSF11
23anaerobic meningitis10.5CTSK, TNFRSF11B, TNFSF11
24pleomorphic lipoma10.4BMP2, CTSK, TNFSF11
25bone resorption disease10.4BMP2, TNFRSF11B, TNFSF11
26bacillary angiomatosis10.4TNFRSF11B, TNFSF11
27polyclonal hypergammaglobulinemia10.4CSF1, TNFSF11
28maternal 14q32.2 hypermethylation syndrome10.4CLCN7, TCIRG1, TNFSF11
29melorheostosis10.3
30chronic rheumatic pericarditis10.3CSF1, TNFSF11
31polyneuropathy in collagen vascular disease10.3BMP2, TNFSF11
32descending colon cancer10.3BMP2, TNFRSF11B
33hepatitis10.3
34malignant giant cell tumor of the tendon sheath10.3CSF1, TNFSF11
35hepatitis c10.3
36myopia10.3CSF1, TNFRSF11B, TNFSF11
37trichodontoosseous syndrome10.3CLCN7, PLEKHM1
38acquired hyperkeratosis10.2TNFRSF11B, TNFSF11
39myelofibrosis10.2
40pneumatosis cystoides intestinalis10.2BMP2, CTSK, TNFRSF11B, TNFSF11
41lung occult small cell carcinoma10.2CSF1, TNFRSF11B, TNFSF11
42hyperparathyroidism10.2
43leukemia10.1
44myeloma10.1
45neuroma10.1CSF1, CTSK, TNFRSF11B, TNFSF11
46multiple myeloma10.1
47small cell cancer of the lung, somatic10.0BMP2, IGF2, TNFRSF11B, TNFSF11
48urinary schistosomiasis10.0ANKH, LRP5
49physical disorder10.0BMP2, CTSK, LRP5, TNFRSF11B, TNFSF11
50primary hyperparathyroidism10.0

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:

 52 (show all 13)
  • mandibular prognathia
  • sensorineural hearing impairment
  • nystagmus
  • abnormality of the ribs
  • abnormal cortical bone morphology
  • abnormal form of the vertebral bodies
  • craniofacial hyperostosis
  • diaphyseal thickening
  • generalized osteosclerosis
  • facial palsy
  • torus palatinus
  • vertebral body sclerosis
  • clavicular sclerosis

HPO human phenotypes related to Hyperostosis, Endosteal:

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

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 Palatinus23 LRP5

Anatomical Context for Hyperostosis, Endosteal

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MalaCards organs/tissues related to Hyperostosis, Endosteal:

34
Bone, Cortex

Animal Models for Hyperostosis, Endosteal or affiliated genes

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MGI Mouse Phenotypes related to Hyperostosis, Endosteal:

39 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.3ANKH, CLCN7, CSF1, CTSK, IGF2, TNFSF11
2MP:00053798.1CA2, CSF1, CTSK, IGF2, LRP5, TCIRG1
3MP:00053847.1ANKH, BMP2, CLCN7, CSF1, CTSK, IGF2
4MP:00053827.0ANKH, BMP2, CLCN7, CSF1, CTSK, IGF2
5MP:00053976.5ANKH, BMP2, CLCN7, CSF1, CTSK, IGF2
6MP:00053766.2ANKH, BMP2, CA2, CLCN7, CSF1, CTSK
7MP:00053876.2ANKH, BMP2, CA2, CLCN7, CSF1, CTSK
8MP:00053786.0ANKH, BMP2, CA2, CLCN7, CSF1, CTSK
9MP:00107686.0ANKH, BMP2, CA2, CLCN7, CSF1, IGF2
10MP:00053715.6ANKH, BMP2, CLCN7, CSF1, CTSK, IGF2
11MP:00053905.4ANKH, BMP2, CA2, CLCN7, CSF1, CTSK

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:

68
id Symbol AA change Variation ID SNP ID
1LRP5p.Ala214ThrVAR_021810rs121908671
2LRP5p.Ala214ValVAR_021811rs121908672
3LRP5p.Ala242ThrVAR_021812rs121908670

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
1vacuolar proton-transporting V-type ATPase complexGO:001647110.3ATP6V0A2, TCIRG1
2vacuolar proton-transporting V-type ATPase, V0 domainGO:000022010.3ATP6V0A2, TCIRG1
3lysosomal membraneGO:00057658.3ATP6V0A2, CLCN7, OSTM1, PLEKHM1, TCIRG1
4extracellular spaceGO:00056157.7BMP2, CA2, CSF1, CTSK, IGF2, THPO

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of osteoblast proliferationGO:003369010.3BMP2, LRP5
2bone resorptionGO:004545310.3CTSK, TNFSF11
3ATP synthesis coupled proton transportGO:001598610.2ATP6V0A2, TCIRG1
4vacuolar proton-transporting V-type ATPase complex assemblyGO:007007210.2ATP6V0A2, TCIRG1
5phagosome acidificationGO:009038310.2ATP6V0A2, TCIRG1
6osteoclast proliferationGO:000215810.2CSF1, TNFSF11
7response to pHGO:000926810.1CA2, CLCN7
8vacuolar acidificationGO:000703510.1ATP6V0A2, TCIRG1
9branching involved in mammary gland duct morphogenesisGO:006044410.1CSF1, LRP5
10positive regulation of bone resorptionGO:004578010.0CA2, TNFSF11
11positive regulation of protein kinase B signalingGO:00518979.9IGF2, THPO, TNFSF11
12positive regulation of mitotic nuclear divisionGO:00458409.8IGF2, LRP5
13positive regulation of protein phosphorylationGO:00019349.8BMP2, IGF2, THPO
14insulin receptor signaling pathwayGO:00082869.8ATP6V0A2, IGF2, TCIRG1
15osteoclast differentiationGO:00303169.7CSF1, OSTM1, TNFSF11
16positive regulation of osteoclast differentiationGO:00456729.7CA2, CSF1, TNFSF11
17positive regulation of MAPK cascadeGO:00434109.6BMP2, IGF2, TNFRSF11B
18ossificationGO:00015039.3CSF1, IGF2, TNFSF11
19ion transmembrane transportGO:00342209.1ATP6V0A2, CLCN7, OSTM1, TCIRG1
20skeletal system developmentGO:00015018.7ANKH, BMP2, IGF2, TNFRSF11B

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

idNameGO IDScoreTop Affiliating Genes
1proton-transporting ATPase activity, rotational mechanismGO:004696110.1ATP6V0A2, TCIRG1
2growth factor activityGO:00080839.1BMP2, CSF1, IGF2, THPO
3cytokine activityGO:00051258.7BMP2, CSF1, THPO, TNFRSF11B, TNFSF11

Sources for Hyperostosis, Endosteal

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet