VBCH
MCID: VNB005
MIFTS: 58

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 57 12 20 43 58 72 13 54 70
Hyperostosis Corticalis Generalisata 57 73 20 43 58 72 36
Hyperphosphatasemia Tarda 57 20 43 58 72 29
Sost-Related Sclerosing Bone Dysplasia 12 43 15
Vbch 57 20 72
Endosteal Hyperostosis Autosomal Recessive 20 72
Sclerosteosis 43 70
Hyperotosis Corticalis Generalisata Familiaris 43
Endosteal Hyperostosis, Autosomal Recessive 57
Sost Sclerosing Bone Dysplasia 43
Smith-Lemli-Opitz Syndrome 70
Disease, Van Buchem 39

Characteristics:

Orphanet epidemiological data:

58
hyperostosis corticalis generalisata
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
van buchem disease:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0080036
OMIM® 57 239100
KEGG 36 H01774
MeSH 44 D010009
ICD10 via Orphanet 33 M85.2
UMLS via Orphanet 71 C0432272
Orphanet 58 ORPHA3416
MedGen 41 C0432272
UMLS 70 C0175694 C0265301 C0432272

Summaries for Van Buchem Disease

MedlinePlus Genetics : 43 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.Abnormal bone growth can pinch (compress) the cranial nerves, which emerge from the brain and extend to various areas of the head and neck. Compression of the cranial nerves can lead to paralyzed facial muscles (facial nerve palsy), hearing loss, vision loss, and a sense of smell that is diminished (hyposmia) or completely absent (anosmia). Abnormal bone growth can cause life-threatening complications if it compresses the part of the brain that is connected to the spinal cord (the brainstem).There are two forms of SOST-related sclerosing bone dysplasia: sclerosteosis and van Buchem disease. The two forms are distinguished by the severity of their symptoms.Sclerosteosis is the more severe form of the disorder. People with sclerosteosis are often tall and have webbed or fused fingers (syndactyly), most often involving the second and third fingers. The syndactyly is present from birth, while the skeletal features typically appear in early childhood. People with sclerosteosis may also have absent or malformed nails.Van Buchem disease represents the milder form of the disorder. People with van Buchem disease are typically of average height and do not have syndactyly or nail abnormalities. Affected individuals tend to have less severe cranial nerve compression, resulting in milder neurological features. In people with van Buchem disease, the skeletal features typically appear in childhood or adolescence.

MalaCards based summary : Van Buchem Disease, also known as hyperostosis corticalis generalisata, is related to sclerosteosis 2 and sclerosteosis 1, 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. The drugs Simvastatin and tannic acid have been mentioned in the context of this disorder. Affiliated tissues include skull, bone 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.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3416 Definition Hyperostosis 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.

OMIM® : 57 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) (Updated 20-May-2021)

KEGG : 36 Hyperostosis corticalis generalisata, also known as Van Buchem disease (VBCH), is autosomal recessive disease. This disease is characterized by progressive bone overgrowth, with narrowing of the neuroforamina in the skull causing cranial neuropathies. VBD is due to a homozygous deletion of a 52-kb regulatory element 35 kb downstream of the SOST gene, which leads to impaired production of sclerostin. Sclerostin, the gene product of SOST, is an inhibitor of the canonical Wnt signaling pathway. VBCH phenotype can be caused by mutation in the LRP5 gene.

UniProtKB/Swiss-Prot : 72 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 : 73 Worth syndrome, also known as benign form of Worth hyperostosis corticalis generalisata with torus... more...

Related Diseases for Van Buchem Disease

Diseases in the Van Buchem Disease family:

Van Buchem Disease Type 2

Diseases related to Van Buchem Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 128)
# Related Disease Score Top Affiliating Genes
1 sclerosteosis 2 32.1 SOST LRP5 LRP4 KREMEN1
2 sclerosteosis 1 31.7 SP7 SOST LRP5 LRP4 DKK1 BGLAP
3 facial paralysis 31.1 TGFB1 SOST LRP5
4 hyperostosis 30.9 TGFB1 SOST LRP5 LRP4 KREMEN1 COL1A1
5 mammary paget's disease 30.4 TNFSF11 PTH BGLAP
6 osteopetrosis 30.2 TNFSF11 RUNX2 LRP5 BGLAP
7 cenani-lenz syndactyly syndrome 30.1 SOST LRP6 LRP5 LRP4
8 endosteal hyperostosis, autosomal dominant 30.0 TNFSF11 SP7 SOST PTH LRP5 COL1A1
9 paget's disease of bone 30.0 VDR TNFSF11 SOST PTH DKK1 BGLAP
10 osteogenic sarcoma 29.5 TNFSF11 SP7 RUNX2 PTH BGLAP
11 bone resorption disease 29.2 VDR TNFSF11 SP7 SOST RUNX2 PTH
12 bone disease 28.9 WNT3A VDR TNFSF11 SP7 SOST RUNX2
13 osteochondrodysplasia 28.7 WNT1 TNFSF11 SP7 SOST RUNX2 PTH
14 sclerosteosis 28.4 WNT3A VDR TNFSF11 TGFB1 SP7 SOST
15 van buchem disease type 2 11.8
16 sost-related sclerosing bone dysplasias 10.5
17 primary bone dysplasia with increased bone density 10.4
18 overgrowth syndrome 10.4
19 autosomal recessive disease 10.4
20 chiari malformation type i 10.4 LRP4 DKK1
21 chiari malformation 10.4 LRP4 DKK1
22 malignant ovarian brenner tumor 10.3 TNFSF11 PTH
23 craniodiaphyseal dysplasia 10.3 SOST LRP5 DKK1
24 kummell's disease 10.3 TNFSF11 SOST DKK1
25 frozen shoulder 10.3 TGFB1 CTNNB1 COL1A1
26 3-methylglutaconic aciduria, type iii 10.2
27 beta-thalassemia major 10.2 VDR COL1A1 BGLAP
28 gorham's disease 10.2 TNFSF11 PTH
29 spondylitis 10.2 TNFSF11 SOST DKK1
30 colon adenoma 10.2 VDR DKK1 CTNNB1
31 idiopathic hypercalciuria 10.2 VDR TNFSF11 BGLAP
32 vitamin d-dependent rickets 10.2 VDR PTH BGLAP
33 mccune-albright syndrome 10.2 SOST LRP5 BGLAP
34 hypervitaminosis d 10.2 VDR PTH
35 connective tissue benign neoplasm 10.2 TNFSF11 PTH CTNNB1
36 otosclerosis 10.2 VDR TGFB1 COL1A1
37 chondrodysplasia, blomstrand type 10.2 TNFSF11 PTH BGLAP
38 hypocalcemia, autosomal dominant 1 10.2 VDR PTH BGLAP
39 oncogenic osteomalacia 10.2 SFRP4 PTH
40 extraosseous osteosarcoma 10.2 SP7 BGLAP
41 autosomal recessive hypophosphatemic rickets 10.1 SOST SFRP4 PTH
42 secondary hyperparathyroidism 10.1 VDR PTH BGLAP
43 aggressive periodontitis 10.1 VDR TNFSF11 BGLAP
44 bone structure disease 10.1 RUNX2 COL1A1 BGLAP
45 hypophosphatasia 10.1 RUNX2 PTH BGLAP
46 bone cancer 10.1 VDR TNFSF11 PTH COL1A1
47 osseous heteroplasia, progressive 10.1 RUNX2 PTH BGLAP
48 spondyloarthropathy 1 10.1 TNFSF11 PTH BGLAP
49 chromosome 2q35 duplication syndrome 10.1
50 trigeminal neuralgia 10.1

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:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 mandibular prognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000303
2 abnormal cortical bone morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0003103
3 diaphyseal thickening 58 31 hallmark (90%) Very frequent (99-80%) HP:0005019
4 generalized osteosclerosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0005789
5 cranial hyperostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0004437
6 abnormal clavicle morphology 31 hallmark (90%) HP:0000889
7 facial palsy 58 31 frequent (33%) Frequent (79-30%) HP:0010628
8 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
9 hearing impairment 31 HP:0000365
10 cranial nerve paralysis 31 HP:0006824
11 increased bone mineral density 31 HP:0011001
12 headache 31 HP:0002315
13 abnormality of the clavicle 58 Very frequent (99-80%)
14 thickened cortex of long bones 31 HP:0000935
15 elevated alkaline phosphatase 31 HP:0003155
16 optic atrophy from cranial nerve compression 31 HP:0007958

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head:
cranial hyperostosis

Eyes:
optic atrophy from cranial nerve compression

Ears:
hearing loss

Lab:
hyperphosphatasemia

Radiology:
thickened cortex of long bones

Neuro:
headaches
cranial nerve palsy

Skel:
osteosclerosis

Clinical features from OMIM®:

239100 (Updated 20-May-2021)

UMLS symptoms related to Van Buchem Disease:


seizures; constipation; vomiting; unspecified visual loss

MGI Mouse Phenotypes related to Van Buchem Disease:

46 (show all 22)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.47 BGLAP COL1A1 CTNNB1 DKK1 LRP4 LRP5
2 cellular MP:0005384 10.45 BGLAP COL1A1 CTNNB1 DKK1 LRP4 LRP5
3 craniofacial MP:0005382 10.44 COL1A1 CTNNB1 DKK1 LRP4 LRP5 LRP6
4 growth/size/body region MP:0005378 10.44 COL1A1 CTNNB1 DKK1 LRP4 LRP5 LRP6
5 limbs/digits/tail MP:0005371 10.4 COL1A1 CTNNB1 DKK1 KREMEN1 LRP4 LRP5
6 mortality/aging MP:0010768 10.38 COL1A1 CTNNB1 DKK1 LRP4 LRP5 LRP6
7 endocrine/exocrine gland MP:0005379 10.35 BGLAP COL1A1 CTNNB1 LRP4 LRP5 PTH
8 immune system MP:0005387 10.3 BGLAP COL1A1 CTNNB1 LRP5 LRP6 PTH
9 hematopoietic system MP:0005397 10.29 BGLAP COL1A1 CTNNB1 LRP5 PTH RUNX2
10 embryo MP:0005380 10.28 COL1A1 CTNNB1 DKK1 LRP4 LRP5 LRP6
11 nervous system MP:0003631 10.21 COL1A1 CTNNB1 DKK1 LRP4 LRP5 LRP6
12 digestive/alimentary MP:0005381 10.19 COL1A1 CTNNB1 LRP6 RUNX2 SFRP4 TGFB1
13 integument MP:0010771 10.16 COL1A1 CTNNB1 LRP4 LRP6 MEOX1 RUNX2
14 muscle MP:0005369 10.16 COL1A1 CTNNB1 LRP4 MEOX1 RUNX2 TGFB1
15 hearing/vestibular/ear MP:0005377 10.03 COL1A1 CTNNB1 LRP6 VDR WNT1 WNT3A
16 reproductive system MP:0005389 10.03 BGLAP COL1A1 CTNNB1 KREMEN1 LRP4 LRP6
17 normal MP:0002873 10.02 COL1A1 CTNNB1 KREMEN1 LRP5 LRP6 MEOX1
18 renal/urinary system MP:0005367 9.97 COL1A1 CTNNB1 DKK1 LRP4 LRP6 SFRP4
19 skeleton MP:0005390 9.96 BGLAP COL1A1 CTNNB1 DKK1 KREMEN1 LRP4
20 no phenotypic analysis MP:0003012 9.95 COL1A1 CTNNB1 LRP6 MEOX1 RUNX2 TNFSF11
21 respiratory system MP:0005388 9.93 COL1A1 CTNNB1 DKK1 LRP4 LRP6 RUNX2
22 vision/eye MP:0005391 9.28 COL1A1 CTNNB1 DKK1 LRP5 LRP6 PTH

Drugs & Therapeutics for Van Buchem Disease

Drugs for Van Buchem Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Simvastatin Approved Phase 2 79902-63-9 54454
2
tannic acid Approved Phase 1, Phase 2 1401-55-4
3
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
4 Phytosterol Phase 1, Phase 2
5 Anesthetics Phase 2
6 Antioxidants Phase 2
7 Protective Agents Phase 2
8 Cholic Acids Phase 1, Phase 2
9 Gastrointestinal Agents Phase 1, Phase 2

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 The Effects of Dietary Cholesterol in the Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
2 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
3 Investigation of Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
4 Short-Term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
5 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
6 Smith-Lemli-Opitz Syndrome: A Pilot Study of Cholic Acid Supplementation Not yet recruiting NCT03720990 Phase 1, Phase 2 Cholic Acid
7 Open-label, Pilot Study to Assess Cholesterol-Lovastatin Solution in the Treatment of Syndromic Ichthyoses Withdrawn NCT01110642 Phase 2 Lovastatin
8 The Feasibility of Screening for Smith-Lemli-Opitz Syndrome Completed NCT00070850
9 Clinical and Basic Investigations Into Smith-Lemli-Opitz Syndrome Completed NCT00001721
10 Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
11 Smith-Lemli Opitz Syndrome: A Clinical Investigation of the Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Terminated NCT01434745 Simvastatin
12 Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation Terminated NCT01356420
13 Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation Withdrawn NCT01413425

Search 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 29

Anatomical Context for Van Buchem Disease

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

19
Skull

MalaCards organs/tissues related to Van Buchem Disease:

40
Bone, Brain, Eye, Spinal Cord, Cortex, Colon, Kidney

Publications for Van Buchem Disease

Articles related to Van Buchem Disease:

(show top 50) (show all 106)
# Title Authors PMID Year
1
Genomic deletion of a long-range bone enhancer misregulates sclerostin in Van Buchem disease. 57 54 61
15965026 2005
2
Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. 61 54 6
12579474 2003
3
Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease. 61 57 54
11836356 2002
4
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. 61 57
14671168 2003
5
A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population. 61 57
12116252 2002
6
Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12-q21. 61 57
10330353 1999
7
[Van Buchem disease. Maxillofacial changes, diagnostic classification and general principles of treatment]. 61 6
10434540 1999
8
Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21. 61 57
9463328 1998
9
Facial paralysis at the age of 2 months as a first clinical sign of van Buchem disease (endosteal hyperostosis). 61 57
3276528 1988
10
The syndromic status of sclerosteosis and van Buchem disease. 61 57
6323069 1984
11
Generalized cortical hyperostosis (Van Buchem disease): nosologic considerations. 57 61
198845 1977
12
Hyperostosis corticalis generalisata. Report of seven cases. 61 57
13924477 1962
13
High bone density due to a mutation in LDL-receptor-related protein 5. 6
12015390 2002
14
Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein. 57
11179006 2001
15
A rare case of bone dystrophy. 57
18135657 1949
16
Sclerostin in mineralized matrices and van Buchem disease. 61 54
19587164 2009
17
Genetic analysis and effect of triiodothyronine and prednisone trial on bone turnover in a patient with craniotubular hyperostosis. 61 54
18538647 2008
18
Osteocyte-derived sclerostin inhibits bone formation: its role in bone morphogenetic protein and Wnt signaling. 54 61
18292354 2008
19
Control of the SOST bone enhancer by PTH using MEF2 transcription factors. 61 54
17696759 2007
20
SOST is a target gene for PTH in bone. 61 54
15946907 2005
21
SOST/sclerostin, an osteocyte-derived negative regulator of bone formation. 54 61
15869900 2005
22
A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene. 61 54
15869924 2005
23
Bone morphogenetic proteins and their antagonists: the sclerostin paradigm. 61 54
16323824 2005
24
Polymorphisms in the sclerosteosis/van Buchem disease gene (SOST) region are associated with bone-mineral density in elderly whites. 61 54
15514891 2004
25
Identification of the disease-causing gene in sclerosteosis--discovery of a novel bone anabolic target? 54 61
15615113 2004
26
Macrocephaly and sclerosis of the tubular bones in an isolated patient: a mild case of craniodiaphyseal dysplasia? 54 61
14564212 2003
27
Molecular Basis for Craniofacial Phenotypes Caused by Sclerostin Deletion. 61
33078679 2021
28
Looking for new anabolic treatment from rare diseases of bone formation. 61
33258798 2021
29
Sclerostin: from bench to bedside. 61
33206222 2020
30
Enostosis, hyperostosis corticalis generalisata and possible overlap syndrome in a 7000 years old mummy from Libya. 61
32707461 2020
31
The Osteocyte as the New Discovery of Therapeutic Options in Rare Bone Diseases. 61
32733380 2020
32
Elevated plasma RANTES in fibrodysplasia ossificans progressiva - A novel therapeutic target? 61
31443758 2019
33
Methylation of bone SOST impairs SP7, RUNX2, and ERĪ± transactivation in patients with postmenopausal osteoporosis. 61
30257098 2019
34
High bone mass in adults. 61
29407041 2018
35
Clinical utility of bone markers in various diseases. 61
29920402 2018
36
Sclerostin neutralization unleashes the osteoanabolic effects of Dkk1 inhibition. 61
29875318 2018
37
Genetics of Sost/SOST in sclerosteosis and van Buchem disease animal models. 61
29080811 2018
38
Computational and functional characterization of four SNPs in the SOST locus associated with osteoporosis. 61
29307778 2018
39
Van Buchem disease: First case report in Taiwan. 61
29390344 2017
40
Sclerostin: Intracellular mechanisms of action and its role in the pathogenesis of skeletal and vascular disorders. 61
29264888 2017
41
Sclerostin deficiency in humans. 61
27742500 2017
42
Role and mechanism of action of sclerostin in bone. 61
27742498 2017
43
N-cadherin restrains PTH repressive effects on sclerostin/SOST by regulating LRP6-PTH1R interaction. 61
27723935 2016
44
Genetic control of bone mass. 61
26747728 2016
45
From disease to treatment: from rare skeletal disorders to treatments for osteoporosis. 61
26892377 2016
46
Decompressive surgery in a patient with hyperostosis corticalis generalisata for relief of cognitive disability and dysaesthesia. 61
25976340 2015
47
LRP receptor family member associated bone disease. 61
26048454 2015
48
Sclerostin and skeletal health. 61
25669441 2015
49
Crystallization and preliminary X-ray crystallographic analysis of the sclerostin-neutralizing Fab AbD09097. 61
25849496 2015
50
Correlative bone imaging in a case of Schnitzler's syndrome and brief review of the literature. 61
25840575 2015

Variations for Van Buchem Disease

ClinVar genetic disease variations for Van Buchem Disease:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LRP5 NM_002335.4(LRP5):c.724G>A (p.Ala242Thr) SNV Pathogenic 6282 rs121908670 GRCh37: 11:68131252-68131252
GRCh38: 11:68363784-68363784
2 LRP5 NM_002335.4(LRP5):c.1199C>T (p.Ala400Val) SNV Uncertain significance 520692 rs201320326 GRCh37: 11:68153967-68153967
GRCh38: 11:68386499-68386499
3 LRP5 NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) SNV Uncertain significance 183255 rs61889560 GRCh37: 11:68191036-68191036
GRCh38: 11:68423568-68423568

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 46)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.93 WNT3A WNT16 WNT1 SOST LRP6 LRP5
2 12.88 WNT3A WNT16 WNT1 TGFB1 LRP6 LRP5
3
Show member pathways
12.82 WNT3A WNT16 WNT1 TNFSF11 TGFB1 LRP6
4
Show member pathways
12.6 WNT3A WNT1 LRP6 LRP5 KREMEN1 DKK1
5
Show member pathways
12.53 WNT3A WNT16 WNT1 TGFB1 DKK1 CTNNB1
6
Show member pathways
12.52 WNT3A WNT16 WNT1 LRP6 LRP5
7
Show member pathways
12.48 WNT3A TGFB1 DKK1 CTNNB1
8 12.46 WNT3A WNT16 WNT1 LRP6 LRP5 KREMEN1
9
Show member pathways
12.39 WNT3A WNT16 WNT1 PTH
10
Show member pathways
12.36 WNT3A WNT16 WNT1 TGFB1 CTNNB1
11 12.36 WNT3A WNT16 WNT1 TGFB1 CTNNB1 COL1A1
12 12.3 WNT3A TGFB1 LRP6 LRP5 DKK1 CTNNB1
13 12.26 WNT3A WNT16 WNT1 TGFB1 LRP6 LRP5
14
Show member pathways
12.24 WNT3A TGFB1 LRP6 LRP5 CTNNB1
15 12.22 WNT3A WNT16 WNT1 TGFB1 CTNNB1
16
Show member pathways
12.22 WNT3A WNT16 WNT1 SFRP4 LRP6 LRP5
17 12.12 WNT3A WNT16 WNT1 CTNNB1
18 12.08 WNT1 TGFB1 SFRP4 CTNNB1
19 12.05 WNT3A WNT16 WNT1 TGFB1 CTNNB1
20 12.02 WNT1 LRP6 LRP5 DKK1 CTNNB1
21 11.96 TGFB1 SP7 RUNX2 PTH BGLAP
22 11.88 WNT3A WNT1 CTNNB1
23 11.83 TNFSF11 TGFB1 PTH
24 11.82 WNT1 TGFB1 LRP6 LRP5 DKK1 CTNNB1
25 11.7 WNT1 TGFB1 RUNX2 CTNNB1
26 11.67 TGFB1 RUNX2 PTH
27
Show member pathways
11.66 WNT3A WNT16 WNT1 CTNNB1
28 11.6 WNT3A WNT1 TNFSF11 TGFB1 DKK1
29 11.58 LRP6 LRP5 CTNNB1
30 11.58 VDR TNFSF11 SOST RUNX2 PTH LRP6
31 11.57 WNT3A TGFB1 DKK1
32 11.56 WNT1 LRP6 DKK1 CTNNB1
33 11.53 VDR TNFSF11 RUNX2 PTH COL1A1 BGLAP
34 11.5 WNT3A WNT16 WNT1 SOST SFRP4 LRP6
35 11.49 TGFB1 RUNX2 BGLAP
36 11.39 VDR TNFSF11 RUNX2 PTH COL1A1 BGLAP
37
Show member pathways
11.32 WNT3A LRP6 LRP5
38 11.3 WNT3A TGFB1 CTNNB1
39 11.21 WNT1 LRP6 LRP5 DKK1 CTNNB1
40 11.18 WNT3A WNT1 LRP6 LRP5 KREMEN1 DKK1
41 11.07 WNT1 SFRP4 CTNNB1
42 10.98 TNFSF11 PTH COL1A1 BGLAP
43
Show member pathways
10.96 WNT3A SOST LRP6 LRP5 KREMEN1 DKK1
44 10.84 VDR TGFB1
45 10.8 DKK1 CTNNB1
46 10.68 VDR PTH

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 extracellular region GO:0005576 9.93 WNT3A WNT16 WNT1 TNFSF11 TGFB1 SOST
2 cell surface GO:0009986 9.85 WNT3A WNT1 TGFB1 SFRP4 LRP6 LRP4
3 endoplasmic reticulum lumen GO:0005788 9.71 WNT3A WNT1 COL1A1 BGLAP
4 extracellular space GO:0005615 9.7 WNT3A WNT16 WNT1 TNFSF11 TGFB1 SOST
5 Golgi lumen GO:0005796 9.62 WNT3A WNT1 TGFB1 BGLAP
6 Wnt signalosome GO:1990909 9.43 LRP6 LRP5 CTNNB1
7 Wnt-Frizzled-LRP5/6 complex GO:1990851 8.8 WNT3A LRP6 LRP5

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

(show top 50) (show all 68)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.22 VDR TNFSF11 SFRP4 RUNX2 LRP4 CTNNB1
2 positive regulation of cell proliferation GO:0008284 10.14 WNT3A WNT1 TGFB1 RUNX2 LRP5 CTNNB1
3 positive regulation of transcription, DNA-templated GO:0045893 10.13 WNT3A WNT1 TGFB1 SOST RUNX2 LRP6
4 multicellular organism development GO:0007275 10.11 WNT3A WNT16 WNT1 VDR TNFSF11 SFRP4
5 response to drug GO:0042493 10.05 TGFB1 PTH CTNNB1 COL1A1 BGLAP
6 neuron differentiation GO:0030182 10 WNT3A WNT16 WNT1 RUNX2 CTNNB1
7 negative regulation of canonical Wnt signaling pathway GO:0090090 9.99 SOST SFRP4 LRP6 LRP4 KREMEN1 DKK1
8 positive regulation of canonical Wnt signaling pathway GO:0090263 9.97 WNT3A TGFB1 SFRP4 COL1A1
9 positive regulation of gene expression GO:0010628 9.97 WNT3A WNT16 VDR TNFSF11 TGFB1 SFRP4
10 ossification GO:0001503 9.96 TNFSF11 SOST RUNX2 COL1A1 BGLAP
11 osteoblast differentiation GO:0001649 9.95 WNT3A SP7 RUNX2 COL1A1 BGLAP
12 skeletal system development GO:0001501 9.93 VDR RUNX2 PTH CTNNB1 COL1A1 BGLAP
13 positive regulation of transcription by RNA polymerase II GO:0045944 9.93 WNT3A WNT1 VDR TNFSF11 TGFB1 SP7
14 cellular calcium ion homeostasis GO:0006874 9.91 VDR TGFB1 PTH
15 response to nutrient levels GO:0031667 9.9 PTH COL1A1 BGLAP
16 positive regulation of osteoblast differentiation GO:0045669 9.89 RUNX2 LRP5 CTNNB1
17 cell fate commitment GO:0045165 9.89 WNT3A WNT16 WNT1
18 hemopoiesis GO:0030097 9.89 WNT3A RUNX2 CTNNB1
19 cellular response to growth factor stimulus GO:0071363 9.89 TGFB1 CTNNB1 BGLAP
20 response to mechanical stimulus GO:0009612 9.88 SOST COL1A1 BGLAP
21 response to peptide hormone GO:0043434 9.88 LRP6 LRP5 COL1A1
22 bone development GO:0060348 9.88 WNT1 TNFSF11 LRP5 BGLAP
23 positive regulation of DNA-binding transcription factor activity GO:0051091 9.88 WNT3A WNT1 TNFSF11 LRP6 LRP5 CTNNB1
24 negative regulation of cell differentiation GO:0045596 9.87 WNT1 TGFB1 CTNNB1
25 negative regulation of Wnt signaling pathway GO:0030178 9.87 SOST SFRP4 DKK1
26 limb development GO:0060173 9.87 LRP4 KREMEN1 DKK1 CTNNB1
27 negative regulation of fat cell differentiation GO:0045599 9.86 WNT3A WNT1 TGFB1
28 embryonic digit morphogenesis GO:0042733 9.86 LRP5 LRP4 CTNNB1
29 regulation of cell differentiation GO:0045595 9.85 WNT3A RUNX2 CTNNB1
30 positive regulation of epithelial to mesenchymal transition GO:0010718 9.85 TGFB1 CTNNB1 COL1A1
31 T cell differentiation GO:0030217 9.84 TGFB1 RUNX2 CTNNB1
32 midbrain development GO:0030901 9.83 WNT3A WNT1 LRP6 CTNNB1
33 odontogenesis of dentin-containing tooth GO:0042475 9.83 TGFB1 RUNX2 LRP6 LRP4 CTNNB1
34 bone morphogenesis GO:0060349 9.82 SFRP4 LRP6 LRP5
35 osteoclast differentiation GO:0030316 9.81 TNFSF11 TGFB1 CTNNB1
36 face morphogenesis GO:0060325 9.81 TGFB1 LRP6 COL1A1
37 bone resorption GO:0045453 9.8 TNFSF11 PTH CTNNB1
38 beta-catenin destruction complex disassembly GO:1904886 9.8 WNT3A WNT1 LRP6 CTNNB1
39 bone remodeling GO:0046849 9.79 WNT16 LRP6 LRP5
40 response to vitamin D GO:0033280 9.79 TGFB1 PTH BGLAP
41 osteoblast development GO:0002076 9.78 RUNX2 LRP5 BGLAP
42 regulation of osteoclast differentiation GO:0045670 9.77 TNFSF11 CTNNB1 BGLAP
43 midbrain dopaminergic neuron differentiation GO:1904948 9.75 WNT1 LRP6 CTNNB1
44 regulation of osteoblast differentiation GO:0045667 9.74 RUNX2 CTNNB1
45 negative regulation of cell-cell adhesion GO:0022408 9.74 WNT1 TGFB1
46 gastrulation with mouth forming second GO:0001702 9.73 LRP5 CTNNB1
47 hematopoietic stem cell differentiation GO:0060218 9.73 SP7 MEOX1
48 embryonic brain development GO:1990403 9.73 WNT1 CTNNB1
49 negative regulation of oxidative stress-induced neuron death GO:1903204 9.73 WNT1 CTNNB1
50 regulation of ossification GO:0030278 9.73 RUNX2 LRP6

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

# Name GO ID Score Top Affiliating Genes
1 receptor ligand activity GO:0048018 9.54 WNT3A WNT1 PTH
2 Wnt-activated receptor activity GO:0042813 9.46 LRP6 LRP5
3 co-receptor binding GO:0039706 9.43 WNT3A DKK1
4 Wnt-protein binding GO:0017147 9.43 SFRP4 LRP6 LRP5
5 toxin transmembrane transporter activity GO:0019534 9.4 LRP6 LRP5
6 cytokine activity GO:0005125 9.35 WNT3A WNT16 WNT1 TNFSF11 TGFB1
7 coreceptor activity involved in canonical Wnt signaling pathway GO:1904928 9.32 LRP6 LRP5
8 coreceptor activity involved in Wnt signaling pathway GO:0071936 9.16 LRP6 LRP5
9 frizzled binding GO:0005109 8.92 WNT3A WNT16 WNT1 LRP6

Sources for Van Buchem Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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