MCID: VNB004
MIFTS: 19

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 51 24 12
Van Buchem Disease Type 2 47 67
Van Buchem Disease 2 69 26
 
Vbch2 47 69
Osteosclerosis of the Skull and Enlarged Mandible 47

Characteristics:

HPO:

63
van buchem disease, type 2:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 607636
MedGen36 C1843323
MeSH38 D010009

Summaries for Van Buchem Disease, Type 2

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UniProtKB/Swiss-Prot:69 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:51 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

Human phenotypes related to Van Buchem Disease, Type 2:

 63
id Description HPO Frequency HPO Source Accession
1 mandibular prognathia63 HP:0000303
2 thickened cortex of long bones63 HP:0000935
3 thickened calvaria63 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 226
2 Van Buchem Disease, Type 224 LRP5

Anatomical Context for Van Buchem Disease, Type 2

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

35
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:

69
id Symbol AA change Variation ID SNP ID
1LRP5p.Ala242ThrVAR_021812rs121908670

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)SNVPathogenicrs121908670GRCh37Chr 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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet