VBCH2
MCID: VNB003
MIFTS: 16

Van Buchem Disease Type 2 (VBCH2)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Van Buchem Disease Type 2

MalaCards integrated aliases for Van Buchem Disease Type 2:

Name: Van Buchem Disease Type 2 20 29 6 39
Vbch2 20 72
Osteosclerosis of the Skull and Enlarged Mandible 20
Van Buchem Disease 2 72

Characteristics:

HPO:

31
van buchem disease type 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

MeSH 44 D010009
MedGen 41 C1843323
SNOMED-CT via HPO 68 109504005 22810007 263681008

Summaries for Van Buchem Disease Type 2

UniProtKB/Swiss-Prot : 72 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 vbch2. An important gene associated with Van Buchem Disease Type 2 is LRP5 (LDL Receptor Related Protein 5). Affiliated tissues include cortex, and related phenotypes are mandibular prognathia and thickened calvaria

Related Diseases for Van Buchem Disease Type 2

Diseases in the Van Buchem Disease family:

Van Buchem Disease Type 2

Symptoms & Phenotypes for Van Buchem Disease Type 2

Human phenotypes related to Van Buchem Disease Type 2:

31
# Description HPO Frequency HPO Source Accession
1 mandibular prognathia 31 HP:0000303
2 thickened calvaria 31 HP:0002684
3 thickened cortex of long bones 31 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:

# Genetic test Affiliating Genes
1 Van Buchem Disease Type 2 29 LRP5

Anatomical Context for Van Buchem Disease Type 2

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

40
Cortex

Publications for Van Buchem Disease Type 2

Articles related to Van Buchem Disease Type 2:

# Title Authors PMID Year
1
Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. 6
12579474 2003
2
High bone density due to a mutation in LDL-receptor-related protein 5. 6
12015390 2002
3
[Van Buchem disease. Maxillofacial changes, diagnostic classification and general principles of treatment]. 6
10434540 1999

Variations for Van Buchem Disease Type 2

ClinVar genetic disease variations for Van Buchem Disease Type 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LRP5 NM_002335.4(LRP5):c.724G>A (p.Ala242Thr) SNV Pathogenic 6282 rs121908670 GRCh37: 11:68131252-68131252
GRCh38: 11:68363784-68363784
2 LRP5 NM_002335.4(LRP5):c.1199C>T (p.Ala400Val) SNV Uncertain significance 520692 rs201320326 GRCh37: 11:68153967-68153967
GRCh38: 11:68386499-68386499
3 LRP5 NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) SNV Uncertain significance 183255 rs61889560 GRCh37: 11:68191036-68191036
GRCh38: 11:68423568-68423568

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
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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