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

About this section

Aliases & Descriptions for Van Buchem Disease, Type 2:

Name: Van Buchem Disease, Type 2 50 23 12
Van Buchem Disease Type 2 46 66
Van Buchem Disease 2 68 25
 
Vbch2 46 68
Osteosclerosis of the Skull and Enlarged Mandible 46

Characteristics:

HPO:

62
van buchem disease, type 2:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 607636
MedGen35 C1843323
MeSH37 D010009

Summaries for Van Buchem Disease, Type 2

About this section
UniProtKB/Swiss-Prot:68 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:50 607636

Related Diseases for Van Buchem Disease, Type 2

About this section

Symptoms for Van Buchem Disease, Type 2

About this section

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

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Van Buchem Disease, Type 2

Genetic Tests for Van Buchem Disease, Type 2

About this section

Genetic tests related to Van Buchem Disease, Type 2:

id Genetic test Affiliating Genes
1 Van Buchem Disease Type 225
2 Van Buchem Disease, Type 223 LRP5

Anatomical Context for Van Buchem Disease, Type 2

About this section

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

34
Bone, Cortex

Animal Models for Van Buchem Disease, Type 2 or affiliated genes

About this section

Publications for Van Buchem Disease, Type 2

About this section

Variations for Van Buchem Disease, Type 2

About this section

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

68
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)single nucleotide variantPathogenicrs121908670GRCh37Chr 11, 68131252: 68131252

Expression for genes affiliated with Van Buchem Disease, Type 2

About this section
Search GEO for disease gene expression data for Van Buchem Disease, Type 2.

Pathways for genes affiliated with Van Buchem Disease, Type 2

About this section

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

About this section

Sources for Van Buchem Disease, Type 2

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet