MCID: VNB004
MIFTS: 17

Van Buchem Disease, Type 2 malady

Genetic diseases, Rare diseases, Bone diseases categories

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 46 9
Van Buchem Disease Type 2 42 20 22 61
 
Osteosclerosis of the Skull and Enlarged Mandible 42
Vbch2 42


Classifications:



External Ids:

OMIM46 607636

Summaries for Van Buchem Disease, Type 2

About this section
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:46 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 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

About this section

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

About this section

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

About this section

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

31
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:

63
id Symbol AA change Variation ID SNP ID
1LRP5p.Ala242ThrVAR_021812

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

Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet