Van Buchem Disease (VBCH) malady

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

Aliases & Classifications for Van Buchem Disease

Aliases & Descriptions for Van Buchem Disease:

Name: Van Buchem Disease 54 12 50 24 25 56 66 13 52 69
Hyperostosis Corticalis Generalisata 50 24 25 56 66
Hyperphosphatasemia Tarda 50 25 56 66 29
Sost-Related Sclerosing Bone Dysplasia 12 25 14
Endosteal Hyperostosis Autosomal Recessive 50 66
Sclerosteosis 25 69
Vbch 50 66
Hyperotosis Corticalis Generalisata Familiaris 25
Sost Sclerosing Bone Dysplasia 25
Smith-Lemli-Opitz Syndrome 69


Orphanet epidemiological data:

hyperostosis corticalis generalisata
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy;


van buchem disease:
Inheritance autosomal recessive inheritance


External Ids:

OMIM 54 239100
Disease Ontology 12 DOID:0080036
Orphanet 56 ORPHA3416
ICD10 via Orphanet 34 M85.2
MedGen 40 C0432272
MeSH 42 D010009

Summaries for Van Buchem Disease

Genetics Home Reference : 25 SOST-related sclerosing bone dysplasia is a disorder of bone development characterized by excessive bone formation (hyperostosis). As a result of hyperostosis, bones throughout the body are denser and wider than normal, particularly the bones of the skull. Affected individuals typically have an enlarged jaw with misaligned teeth. People with this condition may also have a sunken appearance of the middle of the face (midface hypoplasia), bulging eyes with shallow eye sockets (ocular proptosis), and a prominent forehead. People with this condition often experience headaches because increased thickness of the skull bones increases pressure on the brain. The excessive bone formation seen in this condition seems to occur throughout a person's life, so the skeletal features become more pronounced over time. However, the excessive bone growth may only occur in certain areas.

MalaCards based summary : Van Buchem Disease, also known as hyperostosis corticalis generalisata, is related to sost-related sclerosing bone dysplasias and van buchem disease, type 2, and has symptoms including facial palsy, mandibular prognathia and abnormal cortical bone morphology. An important gene associated with Van Buchem Disease is SOST (Sclerostin), and among its related pathways/superpathways are Wnt Signaling Pathway and Pluripotency and Wnt Signaling Pathways: beta-Catenin-dependent Wnt Signaling. Affiliated tissues include bone, eye and brain, and related phenotypes are growth/size/body region and behavior/neurological

Disease Ontology : 12 A hyperostosis that has material basis in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located in skull.

OMIM : 54 Van Buchem disease is an autosomal recessive bone dysplasia characterized by a symmetrically increased thickness of... (239100) more...

UniProtKB/Swiss-Prot : 66 Van Buchem disease: VBCH is an autosomal recessive sclerosing bone dysplasia characterized by endosteal hyperostosis of the mandible, skull, ribs, clavicles, and diaphyses of the long bones. Affected patients present a symmetrically increased thickness of bones, most frequently found as an enlarged jawbone, but also an enlargement of the skull, ribs, diaphysis of long bones, as well as tubular bones of hands and feet. The clinical consequence of increased thickness of the skull include facial nerve palsy causing hearing loss, visual problems, neurological pain, and, very rarely, blindness as a consequence of optic atrophy. Serum alkaline phosphatase levels are elevated.

Related Diseases for Van Buchem Disease

Graphical network of the top 20 diseases related to Van Buchem Disease:

Diseases related to Van Buchem Disease

Symptoms & Phenotypes for Van Buchem Disease

Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


Human phenotypes related to Van Buchem Disease:

56 32 (show all 15)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 facial palsy 56 32 Frequent (79-30%) HP:0010628
2 mandibular prognathia 56 32 Very frequent (99-80%) HP:0000303
3 abnormal cortical bone morphology 56 32 Very frequent (99-80%) HP:0003103
4 sensorineural hearing impairment 56 32 Frequent (79-30%) HP:0000407
5 generalized osteosclerosis 56 32 Very frequent (99-80%) HP:0005789
6 diaphyseal thickening 56 32 Very frequent (99-80%) HP:0005019
7 abnormality of the clavicle 56 32 Very frequent (99-80%) HP:0000889
8 cranial hyperostosis 56 32 Very frequent (99-80%) HP:0004437
9 headache 32 HP:0002315
10 hearing impairment 32 HP:0000365
11 cranial nerve paralysis 32 HP:0006824
12 increased bone mineral density 32 HP:0011001
13 elevated alkaline phosphatase 32 HP:0003155
14 thickened cortex of long bones 32 HP:0000935
15 optic atrophy from cranial nerve compression 32 HP:0007958

UMLS symptoms related to Van Buchem Disease:

constipation, seizures, vomiting, unspecified visual loss

MGI Mouse Phenotypes related to Van Buchem Disease:

44 (show all 11)
id Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.01 COL1A1 LRP5 LRP6 MEF2A MEF2C MEOX1
2 behavior/neurological MP:0005386 9.97 COL1A1 LRP5 LRP6 MEF2A MEF2C VDR
3 cellular MP:0005384 9.95 MEF2A MEF2C VDR COL1A1 LRP5 LRP6
4 craniofacial MP:0005382 9.93 COL1A1 LRP5 LRP6 MEF2C MEOX1 VDR
5 limbs/digits/tail MP:0005371 9.91 COL1A1 LRP5 LRP6 MEF2C MEOX1 SOST
6 mortality/aging MP:0010768 9.87 MEF2C MEOX1 VDR COL1A1 LRP5 LRP6
7 embryo MP:0005380 9.83 COL1A1 LRP5 LRP6 MEF2C MEOX1
8 nervous system MP:0003631 9.7 MEOX1 VDR COL1A1 LRP5 LRP6 MEF2A
9 muscle MP:0005369 9.65 COL1A1 MEF2A MEF2C MEOX1 VDR
10 normal MP:0002873 9.5 MEF2C MEOX1 SOST COL1A1 LRP5 LRP6
11 skeleton MP:0005390 9.17 COL1A1 LRP5 LRP6 MEF2C MEOX1 SOST

Drugs & Therapeutics for Van Buchem Disease

Search Clinical Trials , NIH Clinical Center for Van Buchem Disease

Genetic Tests for Van Buchem Disease

Genetic tests related to Van Buchem Disease:

id Genetic test Affiliating Genes
1 Hyperphosphatasemia Tarda 29
2 Van Buchem Disease 24 SOST

Anatomical Context for Van Buchem Disease

MalaCards organs/tissues related to Van Buchem Disease:

Bone, Eye, Brain, Cortex

The Foundational Model of Anatomy Ontology organs/tissues related to Van Buchem Disease:


Publications for Van Buchem Disease

Articles related to Van Buchem Disease:

(show all 20)
id Title Authors Year
Van Buchem disease: clinical, biochemical, and densitometric features of patients and disease carriers. ( 23074140 )
Sost, ECR5, Mef2C and van Buchem disease. ( 24049632 )
A rare cause of facial nerve palsy in children: hyperostosis corticalis generalisata (Van Buchem disease). Three new pediatric cases and a literature review. ( 22445802 )
Egill SkallagrA-msson: the first case of Van Buchem disease? ( 21677924 )
Case 150: Van Buchem disease (hyperostosis corticalis generalisata). ( 19789259 )
Sclerostin in mineralized matrices and van Buchem disease. ( 19587164 )
Genomic deletion of a long-range bone enhancer misregulates sclerostin in Van Buchem disease. ( 15965026 )
Polymorphisms in the sclerosteosis/van Buchem disease gene (SOST) region are associated with bone-mineral density in elderly whites. ( 15514891 )
Van Buchem disease: lifetime evolution of radioclinical features. ( 14520501 )
Patients with Van Buchem disease, an osteosclerotic genetic disease, have elevated bone formation markers, higher bone density, and greater derived polar moment of inertia than normal. ( 14671168 )
A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population. ( 12116252 )
Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease. ( 11836356 )
Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12-q21. ( 10330353 )
Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21. ( 9463328 )
Syringohydromyelia with Van Buchem disease. ( 9111683 )
Facial paralysis at the age of 2 months as a first clinical sign of van Buchem disease (endosteal hyperostosis). ( 3276528 )
Van Buchem disease: surgical treatment of the mandible. ( 3377422 )
The syndromic status of sclerosteosis and van Buchem disease. ( 6323069 )
Van Buchem disease. ( 199895 )
Generalized cortical hyperostosis (Van Buchem disease): nosologic considerations. ( 198845 )

Variations for Van Buchem Disease

ClinVar genetic disease variations for Van Buchem Disease:

id Gene Variation Type Significance SNP ID Assembly Location
1 SOST NM_025237.2(SOST): c.70C> T (p.Gln24Ter) single nucleotide variant Pathogenic rs387906320 GRCh37 Chromosome 17, 41836040: 41836040
2 SOST SOST, IVS1DS, A-T, +3 AND/OR IVS1AS, A-C, -67 single nucleotide variant Pathogenic
3 SOST NM_025237.2(SOST): c.372G> A (p.Trp124Ter) single nucleotide variant Pathogenic rs104894644 GRCh37 Chromosome 17, 41832980: 41832980
4 SOST NM_025237.2(SOST): c.376C> T (p.Arg126Ter) single nucleotide variant Pathogenic rs104894645 GRCh37 Chromosome 17, 41832976: 41832976

Expression for Van Buchem Disease

Search GEO for disease gene expression data for Van Buchem Disease.

Pathways for Van Buchem Disease

Pathways related to Van Buchem Disease according to GeneCards Suite gene sharing:

(show all 16)
id Super pathways Score Top Affiliating Genes
Show member pathways
12.21 LRP5 LRP6 SOST
Show member pathways
11.66 LRP5 LRP6 SOST
Show member pathways
11.53 LRP5 LRP6 MEF2A
4 11.35 MEF2A MEF2C
Show member pathways
11.31 MEF2A MEF2C
6 11.26 LRP5 LRP6
7 11.16 COL1A1 VDR
8 11.09 COL1A1 VDR
9 11.06 MEF2A MEF2C
10 11.01 MEF2A MEF2C
11 10.98 MEF2A MEF2C
Show member pathways
10.9 LRP5 LRP6
13 10.82 LRP5 LRP6
14 10.7 LRP5 LRP6
Show member pathways
10.12 LRP5 LRP6 SOST
16 10.07 MEF2A MEF2C

GO Terms for Van Buchem Disease

Cellular components related to Van Buchem Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 9.33 LRP5 LRP6 VDR
2 Wnt signalosome GO:1990909 8.96 LRP5 LRP6
3 Wnt-Frizzled-LRP5/6 complex GO:1990851 8.62 LRP5 LRP6

Biological processes related to Van Buchem Disease according to GeneCards Suite gene sharing:

(show all 20)
id Name GO ID Score Top Affiliating Genes
1 Wnt signaling pathway GO:0016055 9.71 LRP5 LRP6 SOST
2 multicellular organism development GO:0007275 9.63 LRP5 LRP6 MEF2A MEF2C MEOX1 VDR
3 response to mechanical stimulus GO:0009612 9.59 COL1A1 SOST
4 response to nutrient levels GO:0031667 9.58 COL1A1 MEF2C
5 cellular response to transforming growth factor beta stimulus GO:0071560 9.58 COL1A1 MEF2C
6 cellular response to calcium ion GO:0071277 9.57 MEF2A MEF2C
7 blood vessel development GO:0001568 9.56 COL1A1 MEF2C
8 face morphogenesis GO:0060325 9.55 COL1A1 LRP6
9 positive regulation of muscle cell differentiation GO:0051149 9.52 MEF2A MEF2C
10 endochondral ossification GO:0001958 9.51 COL1A1 MEF2C
11 negative regulation of protein serine/threonine kinase activity GO:0071901 9.49 LRP5 LRP6
12 regulation of canonical Wnt signaling pathway GO:0060828 9.48 LRP5 LRP6
13 beta-catenin destruction complex disassembly GO:1904886 9.46 LRP5 LRP6
14 negative regulation of ossification GO:0030279 9.43 MEF2C SOST
15 response to peptide hormone GO:0043434 9.43 COL1A1 LRP5 LRP6
16 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.43 LRP5 LRP6 MEF2A MEF2C MEOX1 VDR
17 cellular response to parathyroid hormone stimulus GO:0071374 9.4 MEF2C SOST
18 neural crest cell differentiation GO:0014033 9.37 LRP6 MEF2C
19 Wnt signaling pathway involved in dorsal/ventral axis specification GO:0044332 9.32 LRP5 LRP6
20 positive regulation of transcription, DNA-templated GO:0045893 9.1 COL1A1 LRP5 LRP6 MEF2A MEF2C SOST

Molecular functions related to Van Buchem Disease according to GeneCards Suite gene sharing:

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.81 MEF2A MEF2C MEOX1 VDR
2 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.67 MEF2A MEF2C MEOX1
3 sequence-specific DNA binding GO:0043565 9.67 MEF2A MEF2C MEOX1 VDR
4 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding GO:0001077 9.63 MEF2A MEF2C MEOX1
5 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.52 MEF2A MEF2C
6 core promoter sequence-specific DNA binding GO:0001046 9.48 MEF2C MEOX1
7 Wnt-protein binding GO:0017147 9.43 LRP5 LRP6
8 activating transcription factor binding GO:0033613 9.4 MEF2A MEF2C
9 HMG box domain binding GO:0071837 9.32 MEF2C MEOX1
10 Wnt-activated receptor activity GO:0042813 9.26 LRP5 LRP6
11 toxin transporter activity GO:0019534 9.16 LRP5 LRP6
12 coreceptor activity involved in Wnt signaling pathway GO:0071936 8.96 LRP5 LRP6
13 coreceptor activity involved in canonical Wnt signaling pathway GO:1904928 8.62 LRP5 LRP6

Sources for Van Buchem Disease

9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
52 Novoseek
55 OMIM via Orphanet
59 PubMed
65 SNOMED-CT via Orphanet
68 Tocris
70 UMLS via Orphanet
Loading form....