MCID: VNB004
MIFTS: 19

Van Buchem Disease, Type 2 malady

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Van Buchem Disease, Type 2

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Aliases & Descriptions for Van Buchem Disease, Type 2:

Name: Van Buchem Disease, Type 2 52 24 12
Van Buchem Disease Type 2 48 68
Van Buchem Disease 2 70 27
 
Vbch2 48 70
Osteosclerosis of the Skull and Enlarged Mandible 48

Characteristics:

HPO:

64
van buchem disease, type 2:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 607636
MedGen37 C1843323
MeSH39 D010009

Summaries for Van Buchem Disease, Type 2

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UniProtKB/Swiss-Prot:70 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 cortex of long bones and thickened calvaria. 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:52 607636

Related Diseases for Van Buchem Disease, Type 2

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Symptoms & Phenotypes for Van Buchem Disease, Type 2

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Symptoms by clinical synopsis from OMIM:

607636

Clinical features from OMIM:

607636

Human phenotypes related to Van Buchem Disease, Type 2:

 64
id Description HPO Frequency HPO Source Accession
1 mandibular prognathia64 HP:0000303
2 thickened cortex of long bones64 HP:0000935
3 thickened calvaria64 HP:0002684

Drugs & Therapeutics for Van Buchem Disease, Type 2

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Interventional clinical trials:

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

Genetic Tests for Van Buchem Disease, Type 2

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Genetic tests related to Van Buchem Disease, Type 2:

id Genetic test Affiliating Genes
1 Van Buchem Disease Type 227
2 Van Buchem Disease, Type 224 LRP5

Anatomical Context for Van Buchem Disease, Type 2

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

36
Bone, Cortex

Publications for Van Buchem Disease, Type 2

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Variations for Van Buchem Disease, Type 2

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

70
id Symbol AA change Variation ID SNP ID
1LRP5p.Ala242ThrVAR_021812rs121908670

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1LRP5NM_002335.3(LRP5): c.724G> A (p.Ala242Thr)SNVPathogenicrs121908670GRCh37Chr 11, 68131252: 68131252

Expression for genes affiliated with Van Buchem Disease, Type 2

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

Pathways for genes affiliated with Van Buchem Disease, Type 2

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GO Terms for genes affiliated with Van Buchem Disease, Type 2

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Sources for Van Buchem Disease, Type 2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet