VBCH2
MCID: VNB003
MIFTS: 15

Van Buchem Disease Type 2 (VBCH2) malady

Genetic diseases, Rare diseases, Bone diseases categories
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Summaries for Van Buchem Disease Type 2

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Sources:
47OMIM, 33MalaCards
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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:47 607636

Aliases & Classifications for Van Buchem Disease Type 2

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Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 62UMLS, 47OMIM
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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 43 20 22 62
osteosclerosis of the skull and enlarged mandible 43
van buchem disease, type 2 47
vbch2 43


Related Diseases for Van Buchem Disease Type 2

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Symptoms for Van Buchem Disease Type 2

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Sources:
47OMIM
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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:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Van Buchem Disease Type 2

Search NIH Clinical Center for Van Buchem Disease Type 2

Genetic Tests for Van Buchem Disease Type 2

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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

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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:
64UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Van Buchem Disease Type 2:

64
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, 15Gene 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
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