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 57 13
Van Buchem Disease Type 2 53 29 6 40 73
Vbch2 57 53 75
Osteosclerosis of the Skull and Enlarged Mandible 53
Van Buchem Disease 2 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

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


Classifications:



External Ids:

OMIM 57 607636
MedGen 42 C1843323
MeSH 44 D010009
SNOMED-CT via HPO 69 263681008 109504005 22810007
UMLS 73 C1843323

Summaries for Van Buchem Disease, Type 2

UniProtKB/Swiss-Prot : 75 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 cortex of long bones

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:

57
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

Human phenotypes related to Van Buchem Disease, Type 2:

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

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:

41
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:

75
# 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
2 LRP5 NM_002335.3(LRP5): c.724G> A (p.Ala242Thr) single nucleotide variant Pathogenic rs121908670 GRCh38 Chromosome 11, 68363784: 68363784

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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