MCID: HYP299
MIFTS: 24

Hyperostosis, Endosteal malady

Bone diseases, Fetal diseases categories

Summaries for Hyperostosis, Endosteal

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 osteosclerosis, and has symptoms including sensorineural deafness/hearing loss, nystagmus and prognathism/prognathia. An important gene associated with Hyperostosis, Endosteal is LRP5 (low density lipoprotein receptor-related protein 5). Affiliated tissues include bone.

Description from OMIM:46 144750

Aliases & Classifications for Hyperostosis, Endosteal

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Sources:
48Orphanet, 46OMIM, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
autosomal dominant osteosclerosis, worth type:
Inheritance: Autosomal dominant


Aliases & Descriptions:

hyperostosis, endosteal 46
autosomal dominant osteosclerosis, worth type 48
endosteal hyperostosis, worth type 48
worth syndrome 48


External Ids:

OMIM46 144750
ICD10 via Orphanet26 Q78.2
SNOMED-CT via Orphanet57 254131007

Related Diseases for Hyperostosis, Endosteal

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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 palatinus10.3
2osteosclerosis10.0
3hyperostosis corticalis generalisata10.0

Clinical Features for Hyperostosis, Endosteal

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

144750

Clinical synopsis from OMIM:

144750

Symptoms:

48 (show all 14)
  • sensorineural deafness/hearing loss
  • nystagmus
  • prognathism/prognathia
  • facial palsy
  • abnormal vertebral size/shape
  • enlargment of jaw/large jaw
  • autosomal dominant inheritance
  • cortical anomaly/thick bone cortical layer
  • enlarged diaphysis/diaphyses
  • osteosclerosis/osteopetrosis/bone condensation
  • anomalies of the ribs
  • clavicle absent/abnormal
  • palate exostoses/torus palatinus
  • dense/thickened skull/calvarium/cranial/facial hyperostosis

Drugs & Therapeutics for Hyperostosis, Endosteal

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Sources:
5CenterWatch, 41NIH 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

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Anatomical Context for Hyperostosis, Endosteal

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Sources:
32MalaCards
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MalaCards organs/tissues related to Hyperostosis, Endosteal:

32
Bone

Animal Models for Hyperostosis, Endosteal or affiliated genes

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Publications for Hyperostosis, Endosteal

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Genetic Variations for Hyperostosis, Endosteal

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Hyperostosis, Endosteal:

62
id Symbol AA change Variation ID SNP ID
1LRP5p.Ala214ThrVAR_021810
2LRP5p.Ala214ValVAR_021811
3LRP5p.Ala242ThrVAR_021812

Expression for genes affiliated with Hyperostosis, Endosteal

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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

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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

Sources for Hyperostosis, Endosteal

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet