MCID: VNB005
MIFTS: 51

Van Buchem Disease

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

Aliases & Classifications for Van Buchem Disease

MalaCards integrated aliases for Van Buchem Disease:

Name: Van Buchem Disease 53 12 49 24 55 71 13 51 69
Hyperostosis Corticalis Generalisata 53 72 49 24 55 71 36
Hyperphosphatasemia Tarda 53 49 24 55 71 28
Sost-Related Sclerosing Bone Dysplasia 12 24 14
Vbch 53 49 71
Endosteal Hyperostosis Autosomal Recessive 49 71
Sclerosteosis 24 69
Hyperotosis Corticalis Generalisata Familiaris 24
Endosteal Hyperostosis, Autosomal Recessive 53
Sost Sclerosing Bone Dysplasia 24
Smith-Lemli-Opitz Syndrome 69

Characteristics:

Orphanet epidemiological data:

55
hyperostosis corticalis generalisata
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
van buchem disease:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 239100
Disease Ontology 12 DOID:0080036
Orphanet 55 ORPHA3416
UMLS via Orphanet 70 C0432272
ICD10 via Orphanet 33 M85.2
MedGen 39 C0432272
MeSH 41 D010009
KEGG 36 H01774
UMLS 69 C0432272

Summaries for Van Buchem Disease

Genetics Home Reference : 24 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 hyperostosis and sclerosteosis, 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 Signaling by Wnt. Affiliated tissues include bone, eye and brain, and related phenotypes are cellular and growth/size/body region

OMIM : 53 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 : 71 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.

NIH Rare Diseases : 49 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. Last updated: 3/30/2016

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.

Wikipedia : 72 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

Symptoms via clinical synopsis from OMIM:

53
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

Human phenotypes related to Van Buchem Disease:

55 31 (show all 15)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 facial palsy 55 31 frequent (33%) Frequent (79-30%) HP:0010628
2 mandibular prognathia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000303
3 abnormal cortical bone morphology 55 31 hallmark (90%) Very frequent (99-80%) HP:0003103
4 sensorineural hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000407
5 generalized osteosclerosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0005789
6 diaphyseal thickening 55 31 hallmark (90%) Very frequent (99-80%) HP:0005019
7 abnormality of the clavicle 55 31 hallmark (90%) Very frequent (99-80%) HP:0000889
8 cranial hyperostosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0004437
9 headache 31 HP:0002315
10 hearing impairment 31 HP:0000365
11 cranial nerve paralysis 31 HP:0006824
12 increased bone mineral density 31 HP:0011001
13 elevated alkaline phosphatase 31 HP:0003155
14 thickened cortex of long bones 31 HP:0000935
15 optic atrophy from cranial nerve compression 31 HP:0007958

UMLS symptoms related to Van Buchem Disease:


unspecified visual loss, vomiting, seizures, constipation

MGI Mouse Phenotypes related to Van Buchem Disease:

43 (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 LRP4 LRP5 LRP6 MEOX1 VDR COL1A1
4 homeostasis/metabolism MP:0005376 9.95 SOST VDR COL1A1 LRP4 LRP5 LRP6
5 limbs/digits/tail MP:0005371 9.92 COL1A1 KREMEN1 LRP4 LRP5 LRP6 MEOX1
6 embryo MP:0005380 9.85 LRP4 LRP5 LRP6 MEOX1 COL1A1
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 28 SOST

Anatomical Context for Van Buchem Disease

MalaCards organs/tissues related to Van Buchem Disease:

38
Bone, Eye, Brain, Cortex

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

18
Skull

Publications for Van Buchem Disease

Articles related to Van Buchem Disease:

(show all 22)
# 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
Van Buchem disease: clinical, biochemical, and densitometric features of patients and disease carriers. ( 23074140 )
2013
4
Sost, ECR5, Mef2C and van Buchem disease. ( 24049632 )
2012
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
Egill SkallagrA-msson: the first case of Van Buchem disease? ( 21677924 )
2011
7
Sclerostin in mineralized matrices and van Buchem disease. ( 19587164 )
2009
8
Case 150: Van Buchem disease (hyperostosis corticalis generalisata). ( 19789259 )
2009
9
Genomic deletion of a long-range bone enhancer misregulates sclerostin in Van Buchem disease. ( 15965026 )
2005
10
Polymorphisms in the sclerosteosis/van Buchem disease gene (SOST) region are associated with bone-mineral density in elderly whites. ( 15514891 )
2004
11
Van Buchem disease: lifetime evolution of radioclinical features. ( 14520501 )
2003
12
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
13
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
14
Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease. ( 11836356 )
2002
15
Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12-q21. ( 10330353 )
1999
16
Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21. ( 9463328 )
1998
17
Syringohydromyelia with Van Buchem disease. ( 9111683 )
1997
18
Van Buchem disease: surgical treatment of the mandible. ( 3377422 )
1988
19
Facial paralysis at the age of 2 months as a first clinical sign of van Buchem disease (endosteal hyperostosis). ( 3276528 )
1988
20
The syndromic status of sclerosteosis and van Buchem disease. ( 6323069 )
1984
21
Generalized cortical hyperostosis (Van Buchem disease): nosologic considerations. ( 198845 )
1977
22
Van Buchem disease. ( 199895 )
1977

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:

36
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310

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

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.47 KREMEN1 LRP5 LRP6 SOST
2
Show member pathways
12.19 KREMEN1 LRP5 LRP6
3 12.07 KREMEN1 LRP5 LRP6
4
Show member pathways
11.96 KREMEN1 LRP5 LRP6 SOST
5
Show member pathways
11.73 LRP5 LRP6 SOST
6
Show member pathways
11.63 LRP5 LRP6 MEF2A
7 11.41 LRP5 LRP6
8 11.23 LRP5 LRP6
9 11.13 COL1A1 VDR
10 11.05 COL1A1 VDR
11
Show member pathways
10.92 LRP5 LRP6
12 10.75 LRP5 LRP6
13 10.58 KREMEN1 LRP5 LRP6
14
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 9.16 LRP5 LRP6
2 Wnt-Frizzled-LRP5/6 complex GO:1990851 8.96 LRP5 LRP6
3 receptor complex GO:0043235 8.92 LRP4 LRP5 LRP6 VDR

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.85 LRP5 LRP6 MEF2A MEOX1 VDR
2 multicellular organism development GO:0007275 9.85 LRP4 LRP5 LRP6 MEF2A MEOX1 VDR
3 positive regulation of transcription, DNA-templated GO:0045893 9.83 COL1A1 LRP5 LRP6 MEF2A SOST
4 endocytosis GO:0006897 9.67 LRP4 LRP5 LRP6
5 negative regulation of canonical Wnt signaling pathway GO:0090090 9.62 KREMEN1 LRP4 LRP6 SOST
6 response to mechanical stimulus GO:0009612 9.58 COL1A1 SOST
7 response to peptide hormone GO:0043434 9.58 COL1A1 LRP5 LRP6
8 embryonic digit morphogenesis GO:0042733 9.57 LRP4 LRP5
9 odontogenesis of dentin-containing tooth GO:0042475 9.56 LRP4 LRP6
10 dendrite morphogenesis GO:0048813 9.55 LRP4 MEF2A
11 Wnt signaling pathway GO:0016055 9.55 KREMEN1 LRP4 LRP5 LRP6 SOST
12 limb development GO:0060173 9.54 KREMEN1 LRP4
13 face morphogenesis GO:0060325 9.52 COL1A1 LRP6
14 negative regulation of protein serine/threonine kinase activity GO:0071901 9.51 LRP5 LRP6
15 beta-catenin destruction complex disassembly GO:1904886 9.48 LRP5 LRP6
16 negative regulation of ossification GO:0030279 9.43 KREMEN1 LRP4 SOST
17 Wnt signaling pathway involved in dorsal/ventral axis specification GO:0044332 9.13 LRP4 LRP5 LRP6
18 regulation of canonical Wnt signaling pathway GO:0060828 8.92 KREMEN1 LRP4 LRP5 LRP6

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

# Name GO ID Score Top Affiliating Genes
1 apolipoprotein binding GO:0034185 9.37 LRP4 LRP6
2 toxin transmembrane transporter activity GO:0019534 9.32 LRP5 LRP6
3 coreceptor activity involved in canonical Wnt signaling pathway GO:1904928 9.26 LRP5 LRP6
4 coreceptor activity involved in Wnt signaling pathway GO:0071936 9.16 LRP5 LRP6
5 Wnt-protein binding GO:0017147 9.13 LRP4 LRP5 LRP6
6 Wnt-activated receptor activity GO:0042813 8.8 LRP4 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
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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