MCID: HYP299
MIFTS: 18

Hyperostosis, Endosteal malady

Bone, Fetal categories

Summaries for Hyperostosis, Endosteal

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Worth syndrome, also known as benign form of Worth hyperostosis corticalis generalisata with torus... more...

MalaCards: Hyperostosis, Endosteal, also known as autosomal dominant osteosclerosis, worth type, is related to hyperostosis corticalis generalisata, benign form of worth with torus palatinus and worth's syndrome, and has symptoms including dense/thickened skull/calvarium/cranial/facial hyperostosis, palate exostoses/torus palatinus and clavicle absent/abnormal. An important gene associated with Hyperostosis, Endosteal is LRP5 (low density lipoprotein receptor-related protein 5).

Description from OMIM:47 144750

Aliases & Classifications for Hyperostosis, Endosteal

Sources:
49Orphanet, 47OMIM, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Bone


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

hyperostosis, endosteal 47
autosomal dominant osteosclerosis, worth type 49
endosteal hyperostosis, worth type 49
worth syndrome 49


External Ids:

OMIM47 144750
ICD10 via Orphanet26 Q78.2

Related Diseases for Hyperostosis, Endosteal

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Hyperostosis, Endosteal via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hyperostosis corticalis generalisata, benign form of worth with torus palatinus10.4
2worth's syndrome10.0

Clinical Features for Hyperostosis, Endosteal

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

144750

Clinical synopsis 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

Drugs & Therapeutics for Hyperostosis, Endosteal

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Hyperostosis, Endosteal

Drug clinical trials:

Search ClinicalTrials for Hyperostosis, Endosteal

Search NIH Clinical Center for Hyperostosis, Endosteal

Search CenterWatch for Hyperostosis, Endosteal

Genetic Tests for Hyperostosis, Endosteal

Anatomical Context for Hyperostosis, Endosteal

Animal Models for Hyperostosis, Endosteal or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Hyperostosis, Endosteal

Sources:
51PubMed
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Articles related to Hyperostosis, Endosteal:

idTitleAuthorsYear
1
Distinctive spinal changes in two patients with unusual forms of autosomal dominant endosteal hyperostosis: a case series. (18031587)
2007
2
Dominant endosteal hyperostosis. Skeletal characteristics and review of the literature. (11701785)
2001
3
Neurological involvement in Worth type endosteal hyperostosis: report of a family. (8030669)
1994

Genetic Variations for Hyperostosis, Endosteal

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Hyperostosis, Endosteal:

63
id Symbol AA change Variation SNP ID
1LRP5p.Ala214ThrVAR_021810
2LRP5p.Ala214ValVAR_021811
3LRP5p.Ala242ThrVAR_021812

Expression for genes affiliated with Hyperostosis, Endosteal

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hyperostosis, Endosteal

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

Pathways for genes affiliated with Hyperostosis, Endosteal

Compounds for genes affiliated with Hyperostosis, Endosteal

GO Terms for genes affiliated with Hyperostosis, Endosteal

Products for genes affiliated with Hyperostosis, Endosteal

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hyperostosis, Endosteal

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet