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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MalaCards based summary: Van Buchem Disease Type 2, is also known as osteosclerosis of the skull and enlarged mandible and has symptoms including 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 20 22 62
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 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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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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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

Sources for Van Buchem Disease Type 2

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet