MCID: VNB004
MIFTS: 17

Van Buchem Disease, Type 2

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Van Buchem Disease, Type 2

MalaCards integrated aliases for Van Buchem Disease, Type 2:

Name: Van Buchem Disease, Type 2 53 13
Van Buchem Disease Type 2 49 28 69
Vbch2 53 49 71
Osteosclerosis of the Skull and Enlarged Mandible 49
Van Buchem Disease 2 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
van buchem disease, type 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 607636
MedGen 39 C1843323
MeSH 41 D010009
SNOMED-CT via HPO 65 263681008 109504005 22810007
UMLS 69 C1843323

Summaries for Van Buchem Disease, Type 2

UniProtKB/Swiss-Prot : 71 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 via clinical synopsis from OMIM:

53
SkeletalSkull:
enlarged mandible
increased calvarial thickness
cranial osteosclerosis

LaboratoryAbnormalities:
normal alkaline phosphatase

SkeletalLimbs:
thickened cortices of long bones


Clinical features from OMIM:

607636

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 28 LRP5

Anatomical Context for Van Buchem Disease, Type 2

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

38
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:

71
# 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_002335.3(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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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