MCID: VNB004
MIFTS: 20

Van Buchem Disease, Type 2 malady

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Van Buchem Disease, Type 2

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Aliases & Descriptions for Van Buchem Disease, Type 2:

Name: Van Buchem Disease, Type 2 49 11 22
Van Buchem Disease Type 2 45 65
Van Buchem Disease 2 67 24
 
Vbch2 45 67
Osteosclerosis of the Skull and Enlarged Mandible 45

Characteristics:

HPO:

61
van buchem disease, type 2:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 607636
MedGen34 C1843323
MeSH36 D010009
UMLS65 C1843323

Summaries for Van Buchem Disease, Type 2

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UniProtKB/Swiss-Prot:67 Van Buchem disease 2: VBCH2 is an autosomal dominant sclerosing bone dysplasia characterized by cranial osteosclerosis, thickened calvaria and cortices of long bones, enlarged mandible and normal serum alkaline phosphatase levels.

MalaCards based summary: Van Buchem Disease, Type 2, is also known as van buchem disease type 2, and has symptoms including mandibular prognathia, thickened cortex of long bones and thickened calvaria. An important gene associated with Van Buchem Disease, Type 2 is LRP5 (LDL Receptor Related Protein 5). Affiliated tissues include bone and cortex.

Description from OMIM:49 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 mandibular prognathia HP:0000303
2 thickened cortex of long bones HP:0000935
3 thickened calvaria HP:0002684

Drugs & Therapeutics for Van Buchem Disease, Type 2

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Interventional clinical trials:

Search ClinicalTrials, 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 222 LRP5

Anatomical Context for Van Buchem Disease, Type 2

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

33
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:

67
id Symbol AA change Variation ID SNP ID
1LRP5p.Ala242ThrVAR_021812

Clinvar genetic disease variations for Van Buchem Disease, Type 2:

5
id Gene Variation Type Significance SNP ID Assembly Location
1LRP5NM_002335.3(LRP5): c.724G> A (p.Ala242Thr)single nucleotide variantPathogenicrs121908670GRCh37Chr 11, 68131252: 68131252

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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GO Terms for genes affiliated with Van Buchem Disease, Type 2

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Sources for Van Buchem Disease, Type 2

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet