MCID: HYP299
MIFTS: 49

Hyperostosis, Endosteal malady

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

Aliases & Classifications for Hyperostosis, Endosteal

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Hyperostosis, Endosteal:

Name: Hyperostosis, Endosteal 52 12
Osteosclerosis 52 11 50 39 13 68
Worth Syndrome 11 48 54 70 27
Endosteal Hyperostosis, Worth Type 48 54 70
Autosomal Dominant Osteosclerosis, Worth Type 48 54
Endosteal Hyperostosis, Autosomal Dominant 52 48
Osteosclerosis, Autosomal Dominant 48 50
Worth's Syndrome 11 13
Hyperostosis Corticalis Generalisata, Benign Form of Worth, with Torus Palatinus 24
Hyperostosis Corticalis Generalisata, Benign Form of Worth with Torus Palatinus 48
 
Hyperostosis Corticalis Generalisata Benign Form of Worth with Torus Palatinus 70
Benign Form of Worth Hyperostosis Corticalis Generalisata with Torus Platinus 11
Osteosclerosis, Autosomal Dominant, Worth Type 48
Endosteal Hyperostosis Autosomal Dominant 70
Autosomal Dominant Endosteal Hyperostosis 11
Osteosclerosis Autosomal Dominant 70
Autosomal Dominant Osteosclerosis 11
Worth Disease 68
Wenhy 70

Characteristics:

Orphanet epidemiological data:

54
worth syndrome:
Inheritance: Autosomal dominant

HPO:

64
hyperostosis, endosteal:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 144750
Disease Ontology11 DOID:0080037, DOID:4254
ICD1030 Q78.2
NCIt45 C41236
SNOMED-CT62 49347007
Orphanet54 ORPHA2790
UMLS via Orphanet69 C0432273, C2931308
ICD10 via Orphanet31 Q78.2
MedGen37 C0432273

Summaries for Hyperostosis, Endosteal

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UniProtKB/Swiss-Prot:70 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 palate, bone and cortex, and related mouse phenotypes are endocrine/exocrine gland and respiratory system.

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

Wikipedia:71 Worth syndrome, also known as benign form of Worth hyperostosis corticalis generalisata with torus... more...

Description from OMIM:52 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 130)
idRelated DiseaseScoreTop Affiliating Genes
1pycnodysostosis31.8CLCN7, CTSK
2van buchem disease, type 225.5ANKH, ATP6V0A2, BMP2, CA2, CLCN7, CSF1
3osteosclerosis with ichthyosis and premature ovarian failure11.9
4osteosclerosis abnormalities of nervous system and meninges11.8
5osteosclerosis-developmental delay-craniosynostosis syndrome11.8
6osteomesopyknosis11.6
7raine syndrome11.6
8osteopetrosis11.5
9melorheostosis11.0
10craniofacial dysostosis with diaphyseal hyperplasia11.0
11osteopetrosis, autosomal dominant 110.8
12achondroplasia10.7
13cote katsantoni syndrome10.7
14foix-alajouanine syndrome10.7
15robinow syndrome, autosomal dominant 210.7
16craniometaphyseal dysplasia10.7
17osteopetrosis, autosomal recessive 110.7
18buschke-ollendorff syndrome10.7
19osteopetrosis, autosomal dominant 210.7
20camurati-engelmann disease10.7
21osteopathia striata with cranial sclerosis10.7
22hyperostosis cranialis interna10.7
23craniodiaphyseal dysplasia10.7
24axial osteomalacia10.7
25lipodystrophy10.7
26osteopetrosis, autosomal recessive 710.6TNFRSF11B, TNFSF11
27hemorrhagic shock and encephalopathy syndrome10.5TNFRSF11B, TNFSF11
28tibial hemimelia10.5TNFRSF11B, TNFSF11
29blastomycosis10.5BMP2, TNFSF11
30obsessive-compulsive disorder10.5CLCN7, TNFSF11
31solar retinopathy10.5TNFRSF11B, TNFSF11
32inflammatory liposarcoma10.5TNFRSF11B, TNFSF11
33familial mediterranean fever, ad10.5CLCN7, TNFSF11
34anaerobic meningitis10.4CTSK, TNFRSF11B, TNFSF11
35pleomorphic lipoma10.4BMP2, CTSK, TNFSF11
36bone resorption disease10.4BMP2, TNFRSF11B, TNFSF11
37bacillary angiomatosis10.3TNFRSF11B, TNFSF11
38polyclonal hypergammaglobulinemia10.3CSF1, TNFSF11
39maternal 14q32.2 hypermethylation syndrome10.3CLCN7, TCIRG1, TNFSF11
40trichodontoosseous syndrome10.3CLCN7, PLEKHM1
41chronic rheumatic pericarditis10.3CSF1, TNFSF11
42polyneuropathy in collagen vascular disease10.3BMP2, TNFSF11
43descending colon cancer10.2BMP2, TNFRSF11B
44malignant giant cell tumor of the tendon sheath10.2CSF1, TNFSF11
45myopia10.2CSF1, TNFRSF11B, TNFSF11
46acquired hyperkeratosis10.2TNFRSF11B, TNFSF11
47pneumatosis cystoides intestinalis10.2BMP2, CTSK, TNFRSF11B, TNFSF11
48hepatitis10.2
49lung occult small cell carcinoma10.2CSF1, TNFRSF11B, TNFSF11
50hepatitis c10.2

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



Diseases related to hyperostosis, endosteal

Symptoms & Phenotypes for Hyperostosis, Endosteal

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Symptoms by clinical synopsis from OMIM:

144750

Clinical features from OMIM:

144750

Human phenotypes related to Hyperostosis, Endosteal:

 64 54 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the ribs64 54 hallmark (90%) Very frequent (99-80%) HP:0000772
2 abnormal cortical bone morphology64 54 hallmark (90%) Very frequent (99-80%) HP:0003103
3 craniofacial hyperostosis64 54 hallmark (90%) Very frequent (99-80%) HP:0004493
4 torus palatinus64 54 hallmark (90%) Very frequent (99-80%) HP:0100789
5 abnormal form of the vertebral bodies64 54 typical (50%) Frequent (79-30%) HP:0003312
6 mandibular prognathia64 54 occasional (7.5%) Occasional (29-5%) HP:0000303
7 sensorineural hearing impairment64 54 occasional (7.5%) Occasional (29-5%) HP:0000407
8 nystagmus64 54 occasional (7.5%) Occasional (29-5%) HP:0000639
9 facial palsy64 54 occasional (7.5%) Occasional (29-5%) HP:0010628
10 dental malocclusion64 HP:0000689
11 thickened cortex of long bones64 HP:0000935
12 growth abnormality64 HP:0001507
13 abnormality of pelvic girdle bone morphology64 HP:0002644
14 flat forehead64 HP:0004425
15 metacarpal diaphyseal endosteal sclerosis64 HP:0006174
16 metatarsal diaphyseal endosteal sclerosis64 HP:0008114
17 vertebral body sclerosis64 54 Frequent (79-30%) HP:0100861
18 clavicular sclerosis64 54 Very frequent (99-80%) HP:0100923
19 diaphyseal thickening54 Very frequent (99-80%)
20 generalized osteosclerosis54 Very frequent (99-80%)

MGI Mouse Phenotypes related to Hyperostosis, Endosteal according to GeneCards Suite gene sharing:

41 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.9CA2, CSF1, CTSK, IGF2, LRP5, TCIRG1
2MP:00053888.8ANKH, CLCN7, CSF1, CTSK, IGF2, TNFSF11
3MP:00053847.7ANKH, BMP2, CLCN7, CSF1, CTSK, IGF2
4MP:00053827.4ANKH, BMP2, CLCN7, CSF1, CTSK, IGF2
5MP:00053977.1ANKH, BMP2, CLCN7, CSF1, CTSK, IGF2
6MP:00053767.1ANKH, BMP2, CA2, CLCN7, CSF1, CTSK
7MP:00053786.9ANKH, BMP2, CA2, CLCN7, CSF1, CTSK
8MP:00053716.9ANKH, BMP2, CLCN7, CSF1, CTSK, IGF2
9MP:00107686.7ANKH, BMP2, CA2, CLCN7, CSF1, IGF2
10MP:00053876.6ANKH, BMP2, CA2, CLCN7, CSF1, CTSK
11MP:00053905.5ANKH, BMP2, CA2, CLCN7, CSF1, CTSK

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 Worth Disease27
2 Hyperostosis Corticalis Generalisata, Benign Form of Worth, with Torus Palatinus24 LRP5

Anatomical Context for Hyperostosis, Endosteal

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MalaCards organs/tissues related to Hyperostosis, Endosteal:

36
Bone, Cortex

FMA organs/tissues related to Hyperostosis, Endosteal:

17
Palate

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:

70
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)SNVPathogenicrs121908670GRCh37Chr 11, 68131252: 68131252
2LRP5NM_002335.3(LRP5): c.640G> A (p.Ala214Thr)SNVPathogenicrs121908671GRCh37Chr 11, 68125269: 68125269
3LRP5NM_002335.3(LRP5): c.641C> T (p.Ala214Val)SNVPathogenicrs121908672GRCh37Chr 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:00164719.7ATP6V0A2, TCIRG1
2vacuolar proton-transporting V-type ATPase, V0 domainGO:00002209.5ATP6V0A2, TCIRG1
3lysosomal membraneGO:00057658.7ATP6V0A2, CLCN7, OSTM1, PLEKHM1, TCIRG1
4extracellular spaceGO:00056158.4BMP2, CA2, CSF1, CTSK, IGF2, THPO

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

(show all 20)
idNameGO IDScoreTop Affiliating Genes
1bone resorptionGO:004545310.7CTSK, TNFSF11
2positive regulation of osteoblast proliferationGO:003369010.6BMP2, LRP5
3branching involved in mammary gland duct morphogenesisGO:006044410.5CSF1, LRP5
4positive regulation of mitotic nuclear divisionGO:004584010.5IGF2, LRP5
5osteoclast proliferationGO:000215810.4CSF1, TNFSF11
6positive regulation of bone resorptionGO:004578010.4CA2, TNFSF11
7ATP synthesis coupled proton transportGO:001598610.2ATP6V0A2, TCIRG1
8response to pHGO:000926810.2CA2, CLCN7
9phagosome acidificationGO:009038310.2ATP6V0A2, TCIRG1
10positive regulation of protein kinase B signalingGO:005189710.2IGF2, THPO, TNFSF11
11positive regulation of MAPK cascadeGO:004341010.2BMP2, IGF2, TNFRSF11B
12positive regulation of protein phosphorylationGO:000193410.1BMP2, IGF2, THPO
13osteoclast differentiationGO:003031610.1CSF1, OSTM1, TNFSF11
14ossificationGO:000150310.0CSF1, IGF2, TNFSF11
15positive regulation of osteoclast differentiationGO:00456729.9CA2, CSF1, TNFSF11
16insulin receptor signaling pathwayGO:00082869.8ATP6V0A2, IGF2, TCIRG1
17vacuolar acidificationGO:00070359.8ATP6V0A2, TCIRG1
18ion transmembrane transportGO:00342209.5ATP6V0A2, CLCN7, OSTM1, TCIRG1
19vacuolar proton-transporting V-type ATPase complex assemblyGO:00700729.5ATP6V0A2, TCIRG1
20skeletal system developmentGO:00015019.1ANKH, BMP2, IGF2, TNFRSF11B

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

idNameGO IDScoreTop Affiliating Genes
1cytokine activityGO:00051259.6BMP2, CSF1, THPO, TNFRSF11B, TNFSF11
2proton-transporting ATPase activity, rotational mechanismGO:00469619.5ATP6V0A2, TCIRG1
3growth factor activityGO:00080839.4BMP2, CSF1, IGF2, THPO

Sources for Hyperostosis, Endosteal

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet