VBCH2
MCID: VNB004
MIFTS: 19

Van Buchem Disease, Type 2 (VBCH2) malady

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Van Buchem Disease, Type 2

Aliases & Descriptions for Van Buchem Disease, Type 2:

Name: Van Buchem Disease, Type 2 54 24 13
Van Buchem Disease Type 2 50 69
Van Buchem Disease 2 66 29
Vbch2 50 66
Osteosclerosis of the Skull and Enlarged Mandible 50

Characteristics:

HPO:

32
van buchem disease, type 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 607636
MedGen 40 C1843323
MeSH 42 D010009

Summaries for Van Buchem Disease, Type 2

UniProtKB/Swiss-Prot : 66 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 calvaria and thickened cortex of long bones. 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: 607636

Related Diseases for Van Buchem Disease, Type 2

Symptoms & Phenotypes for Van Buchem Disease, Type 2

Symptoms by clinical synopsis from OMIM:

607636

Clinical features from OMIM:

607636

Human phenotypes related to Van Buchem Disease, Type 2:

32
id Description HPO Frequency HPO Source Accession
1 mandibular prognathia 32 HP:0000303
2 thickened calvaria 32 HP:0002684
3 thickened cortex of long bones 32 HP:0000935

Drugs & Therapeutics for Van Buchem Disease, Type 2

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

Genetic Tests for Van Buchem Disease, Type 2

Genetic tests related to Van Buchem Disease, Type 2:

id Genetic test Affiliating Genes
1 Van Buchem Disease Type 2 29
2 Van Buchem Disease, Type 2 24 LRP5

Anatomical Context for Van Buchem Disease, Type 2

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

39
Bone, Cortex

Publications for Van Buchem Disease, Type 2

Variations for Van Buchem Disease, Type 2

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

66
id Symbol AA change Variation ID SNP ID
1 LRP5 p.Ala242Thr VAR_021812 rs121908670

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 LRP5 NM_002335.3(LRP5): c.724G> A (p.Ala242Thr) single nucleotide variant Pathogenic rs121908670 GRCh37 Chromosome 11, 68131252: 68131252

Expression for Van Buchem Disease, Type 2

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

Pathways for Van Buchem Disease, Type 2

GO Terms for Van Buchem Disease, Type 2

Sources for Van Buchem Disease, Type 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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