VBCH2
MCID: VNB003
MIFTS: 11

Van Buchem Disease Type 2 (VBCH2) malady

Bone category

Summaries for Van Buchem Disease Type 2

Sources:
47OMIM, 33MalaCards
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MalaCards: Van Buchem Disease Type 2, also known as osteosclerosis of the skull and enlarged mandible, is related to exudative vitreoretinopathy and osteoporosis-pseudoglioma syndrome. An important gene associated with Van Buchem Disease Type 2 is LRP5 (low density lipoprotein receptor-related protein 5).

Description from OMIM:47 607636

Aliases & Classifications for Van Buchem Disease Type 2

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 61UMLS, 47OMIM
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Classifications:

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


Aliases & Descriptions:

van buchem disease type 2 43 20 22 61
osteosclerosis of the skull and enlarged mandible 43
van buchem disease, type 2 47
vbch2 43


Related Diseases for Van Buchem Disease Type 2

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Van Buchem Disease Type 2 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1exudative vitreoretinopathy10.0LRP5
2osteoporosis-pseudoglioma syndrome10.0LRP5

Clinical Features for Van Buchem Disease Type 2

Sources:
47OMIM
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Clinical features from OMIM:

607636

Clinical synopsis from OMIM:

607636

Drugs & Therapeutics for Van Buchem Disease Type 2

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

Search CenterWatch for Van Buchem Disease Type 2

Drug clinical trials:

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Search NIH Clinical Center for Van Buchem Disease Type 2

Search CenterWatch for Van Buchem Disease Type 2

Genetic Tests for Van Buchem Disease Type 2

Sources:
20GeneTests, 22GTR
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Genetic tests related to Van Buchem Disease Type 2:

id Genetic test Affiliating Genes
1 Van Buchem Disease, Type 220 LRP5
2 Van Buchem Disease Type 222

Anatomical Context for Van Buchem Disease Type 2

Animal Models for Van Buchem Disease Type 2 or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Van Buchem Disease Type 2

Genetic Variations for Van Buchem Disease Type 2

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Van Buchem Disease Type 2:

63
id Symbol AA change Variation SNP ID
1LRP5p.Ala242ThrVAR_021812

Expression for genes affiliated with Van Buchem Disease Type 2

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Van Buchem Disease Type 2

Search GEO for disease gene expression data for Van Buchem Disease Type 2.

Pathways for genes affiliated with Van Buchem Disease Type 2

Compounds for genes affiliated with Van Buchem Disease Type 2

GO Terms for genes affiliated with Van Buchem Disease Type 2

Products for genes affiliated with Van Buchem Disease Type 2

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Van Buchem Disease Type 2

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