MCID: HYP299
MIFTS: 22

Hyperostosis, Endosteal malady

Genetic diseases, Bone diseases, Fetal diseases, Rare diseases categories
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Summaries for Hyperostosis, Endosteal

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47OMIM, 33MalaCards
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MalaCards: Hyperostosis, Endosteal, also known as autosomal dominant osteosclerosis, worth type, is related to worth's syndrome 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:47 144750

Aliases & Classifications for Hyperostosis, Endosteal

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Sources:
49Orphanet, 47OMIM, 63UMLS via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet
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Classifications:

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


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:

UMLS via Orphanet63 C0432273, C2931308
OMIM47 144750
ICD10 via Orphanet26 Q78.2
SNOMED-CT via Orphanet59 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
1worth's syndrome10.2
2osteosclerosis10.0
3hyperostosis corticalis generalisata10.0
4hyperostosis corticalis generalisata, benign form of worth with torus palatinus10.0

Symptoms for Hyperostosis, Endosteal

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

144750

Clinical features from OMIM:

144750

Symptoms:

49 (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:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Genetic Tests for Hyperostosis, Endosteal

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Anatomical Context for Hyperostosis, Endosteal

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33MalaCards
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MalaCards organs/tissues related to Hyperostosis, Endosteal:

33
Bone

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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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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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:

1
id Gene Name 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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hyperostosis, Endosteal

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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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet