MCID: HYP299
MIFTS: 35

Hyperostosis, Endosteal malady

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

Summaries for Hyperostosis, Endosteal

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

MalaCards based summary: Hyperostosis, Endosteal, also known as osteosclerosis, is related to hepatitis and hepatitis c, and has symptoms including abnormality of the ribs, abnormality of the clavicles and abnormal cortical bone morphology. An important gene associated with Hyperostosis, Endosteal is LRP5 (low density lipoprotein receptor-related protein 5). Affiliated tissues include bone and cortex.

Description from OMIM:47 144750

Aliases & Classifications for Hyperostosis, Endosteal

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Sources:
47OMIM, 10Disease Ontology, 11diseasecard, 43NIH Rare Diseases, 22GeneTests, 12DISEASES, 45Novoseek, 49Orphanet, 35MeSH, 40NCIt, 57SNOMED-CT, 62UMLS, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Hyperostosis, Endosteal, Aliases & Descriptions:

Name: Hyperostosis, Endosteal 47 11
Osteosclerosis 47 10 12 45
Hyperostosis Corticalis Generalisata, Benign Form of Worth with Torus Palatinus 43 22
Autosomal Dominant Osteosclerosis, Worth Type 43 49
Endosteal Hyperostosis, Autosomal Dominant 47 43
 
Endosteal Hyperostosis, Worth Type 43 49
Osteosclerosis, Autosomal Dominant 43 45
Worth Syndrome 43 49
Osteosclerosis, Autosomal Dominant, Worth Type 43


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Bone diseases


Characteristics (Orphanet epidemiological data):

49
autosomal dominant osteosclerosis, worth type:
Inheritance: Autosomal dominant


External Ids:

OMIM47 144750
Disease Ontology10 DOID:4254
MeSH35 D010026
NCIt40 C41236
SNOMED-CT57 49347007
Orphanet49 2790
ICD10 via Orphanet28 Q78.2
UMLS via Orphanet63 C0432273, C2931308

Related Diseases for Hyperostosis, Endosteal

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

(show top 50)    (show all 129)
idRelated DiseaseScoreTop Affiliating Genes
1hepatitis10.5
2hepatitis c10.5
3myelofibrosis10.5
4osteopetrosis10.4
5hyperparathyroidism10.4
6leukemia10.4
7myeloma10.4
8worth's syndrome10.4
9multiple myeloma10.3
10osteomesopyknosis10.3
11primary hyperparathyroidism10.3
12achondroplasia10.2
13craniofacial dysostosis with diaphyseal hyperplasia10.2
14osteosclerosis with ichthyosis and premature ovarian failure10.2
15poems syndrome10.2
16prostatitis10.2
17osteoporosis10.1
18raine syndrome10.1
19osteopetrosis, autosomal dominant 210.1
20osteopathia striata with cranial sclerosis10.1
21trichothiodystrophy10.1
22ectodermal dysplasia10.1
23melorheostosis10.1
24periostitis10.1
25mental retardation10.1
26osteosclerosis-developmental delay-craniosynostosis syndrome10.1
27rheumatoid arthritis10.0
28desmosterolosis10.0
29medulloblastoma10.0
30hypoparathyroidism-retardation-dysmorphism syndrome10.0
31chondrodysplasia, blomstrand type10.0
32werner syndrome10.0
33osteopetrosis, autosomal dominant 110.0
34buschke-ollendorff syndrome10.0
35camurati-engelmann disease10.0
36craniometaphyseal dysplasia10.0
37arthritis10.0
38schnitzler syndrome10.0
39renal osteodystrophy10.0
40dysosteosclerosis10.0
41osteosclerosis abnormalities of nervous system and meninges10.0
42plasma cell leukemia10.0
43schwartz-jampel syndrome, type 19.9
44pycnodysostosis9.9
45gaucher disease, type i9.9
46gaucher disease, type iii9.9
47insensitivity to pain, congenital, with anhidrosis9.9
48prostate cancer9.9
49diastrophic dysplasia9.9
50metaphyseal chondrodysplasia, schmid type9.9

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:

 49 (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 23)
id Description Frequency HPO Source Accession
1 abnormality of the ribs hallmark (90%) HP:0000772
2 abnormality of the clavicles hallmark (90%) HP:0000889
3 abnormal cortical bone morphology hallmark (90%) HP:0003103
4 craniofacial hyperostosis hallmark (90%) HP:0004493
5 increased bone mineral density hallmark (90%) HP:0011001
6 torus palatinus hallmark (90%) HP:0100789
7 abnormal form of the vertebral bodies typical (50%) HP:0003312
8 mandibular prognathia occasional (7.5%) HP:0000303
9 sensorineural hearing impairment occasional (7.5%) HP:0000407
10 nystagmus occasional (7.5%) HP:0000639
11 facial palsy occasional (7.5%) HP:0010628
12 autosomal dominant inheritance HP:0000006
13 sensorineural hearing impairment HP:0000407
14 dental malocclusion HP:0000689
15 thickened cortex of long bones HP:0000935
16 growth abnormality HP:0001507
17 abnormality of pelvic girdle bone morphology HP:0002644
18 flat forehead HP:0004425
19 metacarpal diaphyseal endosteal sclerosis HP:0006174
20 metatarsal diaphyseal endosteal sclerosis HP:0008114
21 torus palatinus HP:0100789
22 vertebral body sclerosis HP:0100861
23 clavicular sclerosis HP:0100923

Drugs & Therapeutics for Hyperostosis, Endosteal

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Drug clinical trials:

Search ClinicalTrials for Hyperostosis, Endosteal

Search NIH Clinical Center for Hyperostosis, Endosteal

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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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:

64
id Symbol AA change Variation ID SNP ID
1LRP5p.Ala214ThrVAR_021810
2LRP5p.Ala214ValVAR_021811
3LRP5p.Ala242ThrVAR_021812

Clinvar genetic disease variations for Hyperostosis, Endosteal:

7
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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Compounds for genes affiliated with Hyperostosis, Endosteal

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GO Terms for genes affiliated with Hyperostosis, Endosteal

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Products for genes affiliated with Hyperostosis, Endosteal

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hyperostosis, Endosteal

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet