MCID: HYP299
MIFTS: 46

Hyperostosis, Endosteal malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Hyperostosis, Endosteal

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

Aliases & Descriptions for Hyperostosis, Endosteal:

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


Classifications:



Characteristics (Orphanet epidemiological data):

51
endosteal hyperostosis, worth type:
Inheritance: Autosomal dominant


External Ids:

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

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 hyperparathyroidism and pycnodysostosis, and has symptoms including abnormality of the ribs, abnormal cortical bone morphology and craniofacial hyperostosis. An important gene associated with Hyperostosis, Endosteal is LRP5 (Low Density Lipoprotein Receptor-Related Protein 5), and among its related pathways are Osteoblast Signaling and Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway. Affiliated tissues include bone and cortex, and related mouse phenotypes are pigmentation and limbs/digits/tail.

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 168)
idRelated DiseaseScoreTop Affiliating Genes
1hyperparathyroidism30.7ANKH, LRP5, TNFRSF11A
2pycnodysostosis30.2CLCN7, CTSK
3rheumatoid arthritis29.6CTSK, TGFB1, TNFRSF11A, TNFRSF11B, TNFSF11
4osteoporosis29.5CA2, CTSK, LRP5, TGFB1, TNFRSF11A, TNFRSF11B
5hepatitis10.6
6hepatitis c10.6
7myelofibrosis10.5
8osteopetrosis10.4
9leukemia10.4
10myeloma10.4
11multiple myeloma10.3
12osteomesopyknosis10.3
13primary hyperparathyroidism10.3
14osteosclerosis with ichthyosis and premature ovarian failure10.3
15familial mediterranean fever, ar10.3CLCN7, TNFSF11
16raine syndrome10.2
17poems syndrome10.2
18prostatitis10.2
19craniofacial dysostosis with diaphyseal hyperplasia10.2
20osteosclerosis-developmental delay-craniosynostosis syndrome10.2
21dyskinesia of esophagus10.2TNFRSF11B, TNFSF11
22atrial fibrillation, familial, 810.2TNFRSF11A, TNFSF11
23craniometaphyseal dysplasia10.1
24osteopetrosis, autosomal dominant 110.1
25osteopathia striata with cranial sclerosis10.1
26ectodermal dysplasia10.1
27melorheostosis10.1
28periostitis10.1
29osteosclerosis abnormalities of nervous system and meninges10.1
30pericardial effusion10.1TNFRSF11B, TNFSF11
31ichthyosis with confetti10.1LRP5, TGFB1
32anterior cruciate ligament tears10.1LRP5, TNFRSF11B, TNFSF11
33peripheral nerve schwannoma10.1TNFRSF11A, TNFRSF11B
34factitious disorder10.1LRP5, TGFB1
35paget disease of bone 2, early-onset10.1TNFRSF11A, TNFRSF11B, TNFSF11
36hemorrhagic fever10.1TNFRSF11A, TNFRSF11B, TNFSF11
37paget disease of bone 5, juvenile-onset10.1TNFRSF11A, TNFRSF11B, TNFSF11
38polycystic bone disease10.1TNFRSF11A, TNFRSF11B, TNFSF11
39primary syphilis10.1TNFRSF11A, TNFRSF11B, TNFSF11
40desmosterolosis10.1
41medulloblastoma10.1
42hypoparathyroidism-retardation-dysmorphism syndrome10.1
43chondrodysplasia, blomstrand type10.1
44achondroplasia10.1
45werner syndrome10.1
46van buchem disease, type 210.1
47buschke-ollendorff syndrome10.1
48osteopetrosis, autosomal dominant 210.1
49camurati-engelmann disease10.1
50arthritis10.1

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 21)
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 autosomal dominant inheritance HP:0000006
11 sensorineural hearing impairment HP:0000407
12 dental malocclusion HP:0000689
13 thickened cortex of long bones HP:0000935
14 growth abnormality HP:0001507
15 abnormality of pelvic girdle bone morphology HP:0002644
16 flat forehead HP:0004425
17 metacarpal diaphyseal endosteal sclerosis HP:0006174
18 metatarsal diaphyseal endosteal sclerosis HP:0008114
19 torus palatinus HP:0100789
20 vertebral body sclerosis HP:0100861
21 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 Palatinus22 LRP5

Anatomical Context for Hyperostosis, Endosteal

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MalaCards organs/tissues related to Hyperostosis, Endosteal:

33
Bone, Cortex

Animal Models for Hyperostosis, Endosteal or affiliated genes

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MGI Mouse Phenotypes related to Hyperostosis, Endosteal:

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.8CLCN7, IKBKG, LRP5, OSTM1
2MP:00053717.9ANKH, CLCN7, CTSK, LRP5, OSTM1, TCIRG1
3MP:00053797.8CA2, CTSK, IKBKG, LRP5, TCIRG1, TGFB1
4MP:00053867.7ANKH, CLCN7, IKBKG, LRP5, OSTM1, TCIRG1
5MP:00053907.6ANKH, CA2, CLCN7, CTSK, LRP5, OSTM1
6MP:00053847.4ANKH, CLCN7, CTSK, IKBKG, LRP5, TCIRG1
7MP:00053827.4ANKH, CLCN7, CTSK, LRP5, OSTM1, TCIRG1
8MP:00053767.0ANKH, CA2, CTSK, IKBKG, LRP5, OSTM1
9MP:00107686.8ANKH, CA2, CLCN7, IKBKG, LRP5, OSTM1
10MP:00053786.4ANKH, CA2, CLCN7, CTSK, IKBKG, LRP5
11MP:00053875.8ANKH, CLCN7, CTSK, IKBKG, LRP5, OSTM1
12MP:00053975.6ANKH, CLCN7, CTSK, IKBKG, LRP5, OSTM1

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:00057659.4CLCN7, OSTM1, PLEKHM1, TCIRG1
2extracellular spaceGO:00056158.0CA2, CTSK, TGFB1, THPO, TNFRSF11B, TNFSF11

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

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of bone resorptionGO:004578010.5CA2, TNFSF11
2positive regulation of fever generation by positive regulation of prostaglandin secretionGO:007181210.4TNFRSF11A, TNFSF11
3TNFSF11-mediated signaling pathwayGO:007184710.4TNFRSF11A, TNFSF11
4positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signalingGO:007184810.4TNFRSF11A, TNFSF11
5response to pHGO:000926810.3CA2, CLCN7
6bone resorptionGO:004545310.2CTSK, TNFSF11
7positive regulation of osteoclast differentiationGO:004567210.2CA2, TNFSF11
8positive regulation of sequence-specific DNA binding transcription factor activityGO:005109110.0LRP5, TNFRSF11A, TNFSF11
9lymph node developmentGO:004853510.0TGFB1, TNFRSF11A
10mammary gland alveolus developmentGO:00607499.9TNFRSF11A, TNFSF11
11positive regulation of protein kinase B signalingGO:00518979.4TGFB1, THPO, TNFSF11
12tumor necrosis factor-mediated signaling pathwayGO:00332099.4IKBKG, TNFRSF11A, TNFRSF11B, TNFSF11
13positive regulation of NF-kappaB transcription factor activityGO:00510929.3IKBKG, TGFB1, TNFRSF11A, TNFSF11
14osteoclast differentiationGO:00303169.0OSTM1, SNX10, TNFRSF11A, TNFSF11
15regulation of apoptotic processGO:00429818.9LRP5, TGFB1, TNFRSF11A, TNFRSF11B
16inflammatory responseGO:00069548.4IKBKG, TGFB1, TNFRSF11A, TNFRSF11B

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

idNameGO IDScoreTop Affiliating Genes
1tumor necrosis factor-activated receptor activityGO:000503110.0TNFRSF11A, TNFRSF11B
2cytokine activityGO:00051258.6TGFB1, THPO, TNFRSF11B, TNFSF11

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