VBCH
MCID: VNB005
MIFTS: 50

Van Buchem Disease (VBCH)

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

Aliases & Classifications for Van Buchem Disease

MalaCards integrated aliases for Van Buchem Disease:

Name: Van Buchem Disease 58 12 54 26 60 76 13 56 74
Hyperostosis Corticalis Generalisata 58 77 54 26 60 76 38
Hyperphosphatasemia Tarda 58 54 26 60 76 30
Sost-Related Sclerosing Bone Dysplasia 12 26 15
Vbch 58 54 76
Endosteal Hyperostosis Autosomal Recessive 54 76
Sclerosteosis 26 74
Hyperotosis Corticalis Generalisata Familiaris 26
Endosteal Hyperostosis, Autosomal Recessive 58
Sost Sclerosing Bone Dysplasia 26
Smith-Lemli-Opitz Syndrome 74
Disease, Van Buchem 41

Characteristics:

Orphanet epidemiological data:

60
hyperostosis corticalis generalisata
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
van buchem disease:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080036
OMIM 58 239100
KEGG 38 H01774
MeSH 45 D010009
ICD10 via Orphanet 35 M85.2
UMLS via Orphanet 75 C0432272
Orphanet 60 ORPHA3416
MedGen 43 C0432272

Summaries for Van Buchem Disease

Genetics Home Reference : 26 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 sclerosteosis 1 and sclerosteosis 2, and has symptoms including seizures, constipation and vomiting. An important gene associated with Van Buchem Disease is SOST (Sclerostin), and among its related pathways/superpathways are Wnt signaling pathway and Signaling by Wnt. Affiliated tissues include bone, eye and brain, and related phenotypes are mandibular prognathia and abnormal cortical bone morphology

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.

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3416Disease definitionHyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull, mandible, clavicles, ribs and diaphyses of the long bones, as well as the tubular bones of the hands and feet. Clinical manifestations include increased skull thickness with cranial nerve entrapment causing inconsistent cranial nerve palsies.Visit the Orphanet disease page for more resources.

OMIM : 58 Van Buchem disease is an autosomal recessive bone dysplasia characterized by 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, resulting in increased cortical bone density. The clinical consequences of increased thickness of the skull include facial nerve palsy causing hearing loss, visual problems, neurologic pain, and very rarely, blindness resulting from optic atrophy. Bone anomalies appear in the first decade of life and progress with age (summary by Wergedal et al., 2003). (239100)

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Worth syndrome, also known as benign form of Worth hyperostosis corticalis generalisata with torus... more...

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

Human phenotypes related to Van Buchem Disease:

60 33 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 mandibular prognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000303
2 abnormal cortical bone morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0003103
3 generalized osteosclerosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0005789
4 diaphyseal thickening 60 33 hallmark (90%) Very frequent (99-80%) HP:0005019
5 abnormality of the clavicle 60 33 hallmark (90%) Very frequent (99-80%) HP:0000889
6 cranial hyperostosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0004437
7 facial palsy 60 33 frequent (33%) Frequent (79-30%) HP:0010628
8 sensorineural hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000407
9 hearing impairment 33 HP:0000365
10 cranial nerve paralysis 33 HP:0006824
11 headache 33 HP:0002315
12 increased bone mineral density 33 HP:0011001
13 elevated alkaline phosphatase 33 HP:0003155
14 thickened cortex of long bones 33 HP:0000935
15 optic atrophy from cranial nerve compression 33 HP:0007958

Symptoms via clinical synopsis from OMIM:

58
Head:
cranial hyperostosis

Ears:
hearing loss

Neuro:
headaches
cranial nerve palsy

Eyes:
optic atrophy from cranial nerve compression

Radiology:
thickened cortex of long bones

Skel:
osteosclerosis

Lab:
hyperphosphatasemia

Clinical features from OMIM:

239100

UMLS symptoms related to Van Buchem Disease:


seizures, constipation, vomiting, unspecified visual loss

MGI Mouse Phenotypes related to Van Buchem Disease:

47 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.04 COL1A1 LRP4 LRP5 LRP6 MEF2A SOST
2 growth/size/body region MP:0005378 10.03 COL1A1 LRP4 LRP5 LRP6 MEF2A MEOX1
3 craniofacial MP:0005382 9.95 COL1A1 LRP4 LRP5 LRP6 MEOX1 VDR
4 homeostasis/metabolism MP:0005376 9.95 COL1A1 LRP4 LRP5 LRP6 MEOX1 SOST
5 limbs/digits/tail MP:0005371 9.92 COL1A1 KREMEN1 LRP4 LRP5 LRP6 MEOX1
6 embryo MP:0005380 9.85 COL1A1 LRP4 LRP5 LRP6 MEOX1
7 mortality/aging MP:0010768 9.8 COL1A1 LRP4 LRP5 LRP6 MEF2A MEOX1
8 integument MP:0010771 9.77 COL1A1 LRP4 LRP6 MEOX1 VDR
9 nervous system MP:0003631 9.7 COL1A1 LRP4 LRP5 LRP6 MEF2A MEOX1
10 normal MP:0002873 9.5 COL1A1 KREMEN1 LRP5 LRP6 MEF2A MEOX1
11 skeleton MP:0005390 9.23 COL1A1 KREMEN1 LRP4 LRP5 LRP6 MEOX1

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:

# Genetic test Affiliating Genes
1 Hyperphosphatasemia Tarda 30 SOST

Anatomical Context for Van Buchem Disease

MalaCards organs/tissues related to Van Buchem Disease:

42
Bone, Eye, Brain, Cortex

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

20
Skull

Publications for Van Buchem Disease

Articles related to Van Buchem Disease:

(show all 35)
# Title Authors Year
1
Genetics of Sost/SOST in sclerosteosis and van Buchem disease animal models. ( 29080811 )
2018
2
Van Buchem disease: First case report in Taiwan. ( 29390344 )
2017
3
Decompressive surgery in a patient with hyperostosis corticalis generalisata for relief of cognitive disability and dysaesthesia. ( 25976340 )
2015
4
Van Buchem disease: clinical, biochemical, and densitometric features of patients and disease carriers. ( 23074140 )
2013
5
A rare cause of facial nerve palsy in children: hyperostosis corticalis generalisata (Van Buchem disease). Three new pediatric cases and a literature review. ( 22445802 )
2012
6
Sost, ECR5, Mef2C and van Buchem disease. ( 24049632 )
2012
7
Egill Skallagrímsson: the first case of Van Buchem disease? ( 21677924 )
2011
8
Case 150: Van Buchem disease (hyperostosis corticalis generalisata). ( 19789259 )
2009
9
Sclerostin in mineralized matrices and van Buchem disease. ( 19587164 )
2009
10
Genomic deletion of a long-range bone enhancer misregulates sclerostin in Van Buchem disease. ( 15965026 )
2005
11
Polymorphisms in the sclerosteosis/van Buchem disease gene (SOST) region are associated with bone-mineral density in elderly whites. ( 15514891 )
2004
12
Van Buchem disease: lifetime evolution of radioclinical features. ( 14520501 )
2003
13
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 )
2003
14
Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease. ( 11836356 )
2002
15
A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population. ( 12116252 )
2002
16
Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12-q21. ( 10330353 )
1999
17
[Van Buchem disease. Maxillofacial changes, diagnostic classification and general principles of treatment]. ( 10434540 )
1999
18
Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21. ( 9463328 )
1998
19
Syringohydromyelia with Van Buchem disease. ( 9111683 )
1997
20
Hyperostosis corticalis generalisata: surgical management and long-term follow-up of one patient. ( 2503576 )
1989
21
Facial paralysis at the age of 2 months as a first clinical sign of van Buchem disease (endosteal hyperostosis). ( 3276528 )
1988
22
Van Buchem disease: surgical treatment of the mandible. ( 3377422 )
1988
23
The syndromic status of sclerosteosis and van Buchem disease. ( 6323069 )
1984
24
Generalized cortical hyperostosis (Van Buchem disease): nosologic considerations. ( 198845 )
1977
25
Van Buchem disease. ( 199895 )
1977
26
Van Buchem's disease (hyperostosis corticalis generalisata) ( 181111 )
1976
27
Hyperostosis corticalis generalisata familiaris. ( 4371569 )
1974
28
Van Buchem's disease (hyperostosis corticalis generalisata familiaris). A case report. ( 4339940 )
1972
29
Hyperostosis corticalis generalisata. Eight new cases. ( 4940141 )
1971
30
The pathogenesis of hyperostosis corticalis generalisata and calcitonin. ( 4247355 )
1970
31
Van Buchem's disease (hyperostosis corticalis generalisata familiaris). A case report. ( 4867898 )
1968
32
Hyperostosis corticalis generalisata congenita. ( 5329553 )
1966
33
Hyperostosis corticalis generalisata. Report of seven cases. ( 13924477 )
1962
34
Hyperostosis corticalis generalisata. Report of seven cases. ( 24547017 )
1962
35
An uncommon familial systemic disease of the skeleton: hyperostosis corticalis generalisata familiaris. ( 13258333 )
1955

Variations for Van Buchem Disease

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 KEGG:

38
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310

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

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.47 KREMEN1 LRP5 LRP6 SOST
2 12.07 KREMEN1 LRP5 LRP6
3
Show member pathways
11.99 LRP5 LRP6 SOST
4
Show member pathways
11.81 KREMEN1 LRP5 LRP6 SOST
5
Show member pathways
11.75 LRP5 LRP6 MEF2A
6
Show member pathways
11.64 KREMEN1 LRP5 LRP6
7 11.42 LRP5 LRP6
8 11.38 LRP5 LRP6 MEF2A SOST VDR
9 11.25 LRP5 LRP6
10 11.16 COL1A1 VDR
11 11.07 COL1A1 VDR
12
Show member pathways
10.95 LRP5 LRP6
13 10.81 LRP5 LRP6
14 10.78 KREMEN1 LRP5 LRP6
15
Show member pathways
10.25 KREMEN1 LRP5 LRP6 SOST

GO Terms for Van Buchem Disease

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

# Name GO ID Score Top Affiliating Genes
1 Wnt signalosome GO:1990909 8.96 LRP5 LRP6
2 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 22)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.83 LRP5 LRP6 MEF2A MEOX1 VDR
2 multicellular organism development GO:0007275 9.73 LRP4 LRP5 LRP6 MEF2A MEOX1 VDR
3 positive regulation of transcription, DNA-templated GO:0045893 9.72 COL1A1 LRP5 LRP6 MEF2A SOST
4 endocytosis GO:0006897 9.65 LRP4 LRP5 LRP6
5 canonical Wnt signaling pathway GO:0060070 9.61 LRP5 LRP6
6 response to mechanical stimulus GO:0009612 9.6 COL1A1 SOST
7 response to peptide hormone GO:0043434 9.59 COL1A1 LRP6
8 odontogenesis of dentin-containing tooth GO:0042475 9.58 LRP4 LRP6
9 embryonic limb morphogenesis GO:0030326 9.58 LRP4 LRP6
10 limb development GO:0060173 9.57 KREMEN1 LRP4
11 dendrite morphogenesis GO:0048813 9.56 LRP4 MEF2A
12 toxin transport GO:1901998 9.55 LRP5 LRP6
13 bone morphogenesis GO:0060349 9.54 LRP5 LRP6
14 regulation of canonical Wnt signaling pathway GO:0060828 9.52 KREMEN1 LRP4
15 face morphogenesis GO:0060325 9.51 COL1A1 LRP6
16 negative regulation of protein serine/threonine kinase activity GO:0071901 9.49 LRP5 LRP6
17 gastrulation with mouth forming second GO:0001702 9.46 LRP5 LRP6
18 negative regulation of canonical Wnt signaling pathway GO:0090090 9.46 KREMEN1 LRP4 LRP6 SOST
19 bone remodeling GO:0046849 9.4 LRP5 LRP6
20 branching involved in mammary gland duct morphogenesis GO:0060444 9.37 LRP5 LRP6
21 negative regulation of ossification GO:0030279 9.13 KREMEN1 LRP4 SOST
22 Wnt signaling pathway GO:0016055 9.02 KREMEN1 LRP4 LRP5 LRP6 SOST

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

# Name GO ID Score Top Affiliating Genes
1 Wnt-protein binding GO:0017147 9.37 LRP5 LRP6
2 Wnt-activated receptor activity GO:0042813 9.32 LRP5 LRP6
3 apolipoprotein binding GO:0034185 9.26 LRP4 LRP6
4 toxin transmembrane transporter activity GO:0019534 9.16 LRP5 LRP6
5 coreceptor activity involved in canonical Wnt signaling pathway GO:1904928 8.96 LRP5 LRP6
6 coreceptor activity involved in Wnt signaling pathway GO:0071936 8.62 LRP5 LRP6
7 protein binding GO:0005515 10.06 COL1A1 KREMEN1 LRP4 LRP5 LRP6 MEF2A

Sources for Van Buchem Disease

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
Content
Loading form....