MCID: VNB004
MIFTS: 17

Van Buchem Disease, Type 2 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 van buchem disease type 2, 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). Affiliated tissues include bone and cortex.

Description from OMIM:45 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 45 10
Van Buchem Disease Type 2 41 20 22 60
 
Osteosclerosis of the Skull and Enlarged Mandible 41
Vbch2 41


Classifications:

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


External Ids:

OMIM45 607636

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 220 LRP5
2 Van Buchem Disease Type 222

Anatomical Context for Van Buchem Disease, Type 2

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MalaCards organs/tissues related to Van Buchem Disease, Type 2:

31
Bone, Cortex

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:

62
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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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet