VBCH2
MCID: VNB003
MIFTS: 15

Van Buchem Disease Type 2 (VBCH2) malady

Genetic diseases, Rare diseases, Bone diseases categories

Summaries for Van Buchem Disease Type 2

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Sources:
48OMIM, 34MalaCards
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MalaCards: Van Buchem Disease Type 2, is also known as osteosclerosis of the skull and enlarged mandible An important gene associated with Van Buchem Disease Type 2 is LRP5 (low density lipoprotein receptor-related protein 5).

Description from OMIM:48 607636

Aliases & Classifications for Van Buchem Disease Type 2

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Sources:
44NIH Rare Diseases, 21GeneTests, 23GTR, 63UMLS, 48OMIM
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Classifications:

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


Aliases & Descriptions:

van buchem disease type 2 44 21 23 63
osteosclerosis of the skull and enlarged mandible 44
van buchem disease, type 2 48
vbch2 44


Related Diseases for Van Buchem Disease Type 2

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Symptoms for Van Buchem Disease Type 2

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Sources:
48OMIM
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Symptoms by clinical synopsis from OMIM:

607636

Clinical features from OMIM:

607636

Drugs & Therapeutics for Van Buchem Disease Type 2

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Van Buchem Disease Type 2

Drug clinical trials:

Search ClinicalTrials for Van Buchem Disease Type 2

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

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21GeneTests, 23GTR
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Genetic tests related to Van Buchem Disease Type 2:

id Genetic test Affiliating Genes
1 Van Buchem Disease, Type 221 LRP5
2 Van Buchem Disease Type 223

Anatomical Context for Van Buchem Disease Type 2

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Animal Models for Van Buchem Disease Type 2 or affiliated genes

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Publications for Van Buchem Disease Type 2

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Variations for Van Buchem Disease Type 2

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Sources:
65UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Van Buchem Disease Type 2:

65
id Symbol AA change Variation ID SNP ID
1LRP5p.Ala242ThrVAR_021812

Expression for genes affiliated with Van Buchem Disease Type 2

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Van Buchem Disease Type 2

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Pathways for genes affiliated with Van Buchem Disease Type 2

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Compounds for genes affiliated with Van Buchem Disease Type 2

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GO Terms for genes affiliated with Van Buchem Disease Type 2

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Products for genes affiliated with Van Buchem Disease Type 2

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Van Buchem Disease Type 2

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet