VBCH2
MCID: VNB004
MIFTS: 19

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 58 13
Van Buchem Disease Type 2 54 30 6 41 74
Vbch2 58 54 76
Osteosclerosis of the Skull and Enlarged Mandible 54
Van Buchem Disease 2 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
allelic to type i osteopetrosis , osteoporosis-pseudoglioma , high bone mass , autosomal dominant endosteal hyperostosis


HPO:

33
van buchem disease, type 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 607636
MeSH 45 D010009
MedGen 43 C1843323
SNOMED-CT via HPO 70 109504005 22810007 263681008
UMLS 74 C1843323

Summaries for Van Buchem Disease, Type 2

UniProtKB/Swiss-Prot : 76 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. An important gene associated with Van Buchem Disease, Type 2 is LRP5 (LDL Receptor Related Protein 5). Affiliated tissues include bone and cortex, and related phenotypes are mandibular prognathia and thickened calvaria

Description from OMIM: 607636

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:

33
# Description HPO Frequency HPO Source Accession
1 mandibular prognathia 33 HP:0000303
2 thickened calvaria 33 HP:0002684
3 thickened cortex of long bones 33 HP:0000935

Symptoms via clinical synopsis from OMIM:

58
Skeletal Skull:
enlarged mandible
increased calvarial thickness
cranial osteosclerosis

Laboratory Abnormalities:
normal alkaline phosphatase

Skeletal Limbs:
thickened cortices of long bones

Clinical features from OMIM:

607636

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 30 LRP5

Anatomical Context for Van Buchem Disease, Type 2

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

42
Bone, Cortex

Publications for Van Buchem Disease, Type 2

Articles related to Van Buchem Disease, Type 2:

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

Variations for Van Buchem Disease, Type 2

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

76
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 LRP5 NM_002335.2(LRP5): c.724G> A (p.Ala242Thr) single nucleotide variant Pathogenic rs121908670 GRCh37 Chromosome 11, 68131252: 68131252
2 LRP5 NM_002335.2(LRP5): c.724G> A (p.Ala242Thr) single nucleotide variant Pathogenic rs121908670 GRCh38 Chromosome 11, 68363784: 68363784
3 LRP5 NM_002335.2(LRP5): c.3107G> A (p.Arg1036Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs61889560 GRCh37 Chromosome 11, 68191036: 68191036
4 LRP5 NM_002335.2(LRP5): c.3107G> A (p.Arg1036Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs61889560 GRCh38 Chromosome 11, 68423568: 68423568
5 LRP5 NM_002335.3(LRP5): c.1199C> T (p.Ala400Val) single nucleotide variant Uncertain significance rs201320326 GRCh38 Chromosome 11, 68386499: 68386499
6 LRP5 NM_002335.3(LRP5): c.1199C> T (p.Ala400Val) single nucleotide variant Uncertain significance rs201320326 GRCh37 Chromosome 11, 68153967: 68153967

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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