VBCH2
MCID: VNB003
MIFTS: 16

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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MalaCards based summary: Van Buchem Disease Type 2, is also known as osteosclerosis of the skull and enlarged mandible, and has symptoms including autosomal dominant inheritance, mandibular prognathia and thickened cortex of long bones. An important gene associated with Van Buchem Disease Type 2 is LRP5 (low density lipoprotein receptor-related protein 5).

Description from OMIM:46 607636

Aliases & Classifications for Van Buchem Disease Type 2

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Van Buchem Disease Type 2, Aliases & Descriptions:

Name: Van Buchem Disease Type 2 42 21 23 61
Osteosclerosis of the Skull and Enlarged Mandible 42
 
Van Buchem Disease, Type 2 46
Vbch2 42


Classifications:

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


Related Diseases for Van Buchem Disease Type 2

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Symptoms for Van Buchem Disease Type 2

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Symptoms by clinical synopsis from OMIM:

607636

Clinical features from OMIM:

607636

HPO human phenotypes related to Van Buchem Disease Type 2:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 mandibular prognathia HP:0000303
3 thickened cortex of long bones HP:0000935
4 thickened calvaria HP:0002684

Drugs & Therapeutics for Van Buchem Disease Type 2

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

63
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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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

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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
  • Proteins
  • Kits and Assays

Sources for Van Buchem Disease Type 2

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet