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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MalaCards based summary: 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). Affiliated tissues include bone.

Description from OMIM:46 144750

Aliases & Classifications for Hyperostosis, Endosteal

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Sources:
46OMIM, 48Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Hyperostosis, Endosteal, Aliases & Descriptions:

Name: Hyperostosis, Endosteal 46
Autosomal Dominant Osteosclerosis, Worth Type 48
 
Endosteal Hyperostosis, Worth Type 48
Worth Syndrome 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM46 144750
ICD10 via Orphanet26 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:

idRelated DiseaseScoreTop Affiliating Genes
1hyperostosis corticalis generalisata, benign form of worth with torus palatinus10.4
2worth's syndrome10.2
3osteosclerosis10.0
4hyperostosis corticalis generalisata10.0

Symptoms for Hyperostosis, Endosteal

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Symptoms by clinical synopsis from OMIM:

144750

Clinical features from OMIM:

144750

Symptoms:

48 (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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Anatomical Context for Hyperostosis, Endosteal

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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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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:

6
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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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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet