VBCH
MCID: VNB005
MIFTS: 56

Van Buchem Disease (VBCH)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Van Buchem Disease

MalaCards integrated aliases for Van Buchem Disease:

Name: Van Buchem Disease 57 11 19 42 58 73 12 53 71 75
Hyperostosis Corticalis Generalisata 57 19 42 58 75 73
Hyperphosphatasemia Tarda 57 19 42 58 73 28
Sost-Related Sclerosing Bone Dysplasia 11 42 14
Vbch 57 19 73
Endosteal Hyperostosis Autosomal Recessive 19 73
Sclerosteosis 42 71
Hyperotosis Corticalis Generalisata Familiaris 42
Endosteal Hyperostosis, Autosomal Recessive 57
Sost Sclerosing Bone Dysplasia 42
Smith-Lemli-Opitz Syndrome 71

Characteristics:


Inheritance:

Van Buchem Disease: Autosomal recessive 57
Hyperostosis Corticalis Generalisata: Autosomal dominant,Autosomal recessive 58

Prevelance:

Hyperostosis Corticalis Generalisata: <1/1000000 (Worldwide) 58

Age Of Onset:

Hyperostosis Corticalis Generalisata: Adolescent,Childhood 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 11 DOID:0080036
OMIM® 57 239100
MeSH 43 D010009
ICD10 via Orphanet 32 M85.2
UMLS via Orphanet 72 C0432272
Orphanet 58 ORPHA3416
MedGen 40 C0432272
UMLS 71 C0175694 C0265301 C0432272

Summaries for Van Buchem Disease

MedlinePlus Genetics: 42 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 1 and sclerosteosis 2, and has symptoms including constipation, vomiting and seizures. An important gene associated with Van Buchem Disease is SOST (Sclerostin), and among its related pathways/superpathways are Signal Transduction and Signaling by WNT. The drugs Benzocaine and Tannic acid have been mentioned in the context of this disorder. Affiliated tissues include skull, bone and spinal cord, and related phenotypes are mandibular prognathia and abnormal cortical bone morphology

UniProtKB/Swiss-Prot: 73 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.

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 08-Dec-2022)

GARD: 19 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.

Orphanet: 58 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.

Disease Ontology: 11 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 75 Van buchem disease: Van Buchem disease, or hyperostosis corticalis generalisata, is an autosomal recessive skeletal disease... more...

Hyperostosis corticalis generalisata: 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 151)
# Related Disease Score Top Affiliating Genes
1 sclerosteosis 1 32.2 SP7 SOST LRP4 BGLAP
2 sclerosteosis 2 32.1 SOST LRP5 LRP4 KREMEN1
3 hyperostosis 30.9 TGFB1 SOST LRP5 LRP4 KREMEN1 COL1A1
4 osteopetrosis, autosomal dominant 1 30.6 LRP6 LRP5 DKK1
5 paget's disease of bone 30.5 TNFSF11 PTH BGLAP
6 osteopetrosis 30.3 TNFSF11 RUNX2 LRP5 BGLAP
7 cenani-lenz syndactyly syndrome 30.3 SOST LRP6 LRP5 LRP4
8 chromosome 2q35 duplication syndrome 30.2 WNT10B SOST LRP6 LRP5 LRP4
9 mammary paget's disease 30.0 TNFSF11 SP7 SOST RUNX2 PTH BGLAP
10 mccune-albright syndrome 29.9 SOST PTH MEPE LRP5
11 endosteal hyperostosis, autosomal dominant 29.8 WNT10B TNFSF11 SP7 SOST SFRP4 PTH
12 bone disease 29.5 VDR TNFSF11 SP7 SOST RUNX2 PTH
13 osteogenic sarcoma 29.5 VDR TNFSF11 TGFB1 SP7 RUNX2 PTH
14 osteochondrodysplasia 28.6 WNT1 TNFSF11 SP7 SOST SFRP4 RUNX2
15 sclerosteosis 28.5 WNT10B WNT1 VDR TNFSF11 TGFB1 SP7
16 osteoporosis 28.4 WNT1 VDR TNFSF11 TGFB1 SP7 SOST
17 van buchem disease type 2 11.6
18 bell's palsy 10.5
19 sost-related sclerosing bone dysplasias 10.5
20 primary bone dysplasia with increased bone density 10.5
21 overgrowth syndrome 10.5
22 facial paralysis 10.4
23 malignant ovarian brenner tumor 10.3 TNFSF11 PTH
24 osteogenesis imperfecta, type i 10.3 SOST COL1A1 BGLAP
25 osteogenesis imperfecta, type vii 10.3 SOST COL1A1
26 osteopathia striata with cranial sclerosis 10.3 SOST LRP6 LRP5
27 vitreoretinopathy 10.3 TGFB1 LRP5 CTNNB1
28 enterobiasis 10.3 LRP6 CTNNB1
29 3-methylglutaconic aciduria, type iii 10.3
30 hypervitaminosis d 10.3 VDR PTH
31 chiari malformation 10.3 LRP4 DKK1
32 hypercalcemia, infantile, 1 10.3 VDR PTH
33 osteogenesis imperfecta, type xv 10.2 WNT1 SOST LRP5
34 ureteral disease 10.2 TGFB1 CTNNB1 COL1A1
35 osteitis fibrosa 10.2 SOST PTH BGLAP
36 pycnodysostosis 10.2 TNFSF11 SOST BGLAP
37 osteopetrosis, autosomal dominant 2 10.2 TNFSF11 LRP5 BGLAP
38 pelvic organ prolapse 10.2 TGFB1 CTNNB1 COL1A1
39 spondylitis 10.2 TNFSF11 SOST DKK1
40 chronic apical periodontitis 10.2 TNFSF11 RUNX2
41 tetraamelia syndrome 10.2 WNT10B SOST LRP5
42 gorham's disease 10.2 TNFSF11 PTH
43 vitamin d hydroxylation-deficient rickets, type 1a 10.2 VDR PTH
44 root resorption 10.2 VDR TNFSF11 RUNX2
45 parathyroid adenoma 10.2 VDR PTH CTNNB1
46 connective tissue benign neoplasm 10.2 TNFSF11 PTH CTNNB1
47 hypocalcemia, autosomal dominant 1 10.2 VDR PTH BGLAP
48 exostosis 10.2 SOST RUNX2 BGLAP
49 epicondylitis 10.2 TGFB1 COL1A1
50 secondary hyperparathyroidism 10.2 VDR PTH BGLAP

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

UMLS symptoms related to Van Buchem Disease:


constipation; vomiting; seizures; unspecified visual loss

MGI Mouse Phenotypes related to Van Buchem Disease:

45 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.48 BGLAP COL1A1 CTNNB1 DKK1 LRP4 LRP5
2 limbs/digits/tail MP:0005371 10.43 COL1A1 CTNNB1 DKK1 KREMEN1 LRP4 LRP5
3 growth/size/body region MP:0005378 10.38 COL1A1 CTNNB1 DKK1 LRP4 LRP5 LRP6
4 nervous system MP:0003631 10.36 COL1A1 CTNNB1 DKK1 LRP4 LRP5 LRP6
5 skeleton MP:0005390 10.32 BGLAP COL1A1 CTNNB1 DKK1 KREMEN1 LRP4
6 endocrine/exocrine gland MP:0005379 10.3 BGLAP COL1A1 CTNNB1 LRP4 LRP5 PTH
7 cellular MP:0005384 10.3 BGLAP COL1A1 CTNNB1 DKK1 LRP4 LRP5
8 craniofacial MP:0005382 10.29 COL1A1 CTNNB1 DKK1 LRP4 LRP5 LRP6
9 muscle MP:0005369 10.27 COL1A1 CTNNB1 LRP4 MEOX1 RUNX2 TGFB1
10 normal MP:0002873 10.25 COL1A1 CTNNB1 KREMEN1 LRP5 LRP6 MEOX1
11 immune system MP:0005387 10.25 BGLAP COL1A1 CTNNB1 LRP5 LRP6 MEPE
12 renal/urinary system MP:0005367 10.18 COL1A1 CTNNB1 DKK1 LRP4 LRP6 SFRP4
13 embryo MP:0005380 10.16 COL1A1 CTNNB1 DKK1 LRP4 LRP5 LRP6
14 no phenotypic analysis MP:0003012 10.14 COL1A1 CTNNB1 LRP6 MEOX1 RUNX2 TNFSF11
15 respiratory system MP:0005388 10.14 COL1A1 CTNNB1 DKK1 LRP4 LRP6 RUNX2
16 reproductive system MP:0005389 10.11 BGLAP COL1A1 CTNNB1 KREMEN1 LRP4 LRP6
17 digestive/alimentary MP:0005381 10.1 COL1A1 CTNNB1 LRP6 RUNX2 SFRP4 TGFB1
18 hematopoietic system MP:0005397 9.93 BGLAP COL1A1 CTNNB1 LRP5 MEPE PTH
19 vision/eye MP:0005391 9.91 COL1A1 CTNNB1 DKK1 LRP5 LRP6 PTH
20 mortality/aging MP:0010768 9.83 COL1A1 CTNNB1 DKK1 LRP4 LRP5 LRP6
21 integument MP:0010771 9.28 COL1A1 CTNNB1 LRP4 LRP6 MEOX1 RUNX2

Drugs & Therapeutics for Van Buchem Disease

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

(show all 14)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
2
Tannic acid Approved Phase 1, Phase 2 1401-55-4 16129878 16129778
3
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 2 67-97-0, 1406-16-2 5280795 10883523
4 Vitamins Phase 2
5 Calciferol Phase 2
6 Anesthetics Phase 2
7 Antioxidants Phase 2
8 Protective Agents Phase 2
9
7-dehydrocholesterol Phase 1, Phase 2 434-16-2 439423
10 Dehydrocholesterols Phase 1, Phase 2
11 Gastrointestinal Agents Phase 1, Phase 2
12 Cholic Acids Phase 1, Phase 2
13
Simvastatin Approved 79902-63-9 54454
14 Phytosterol

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 The Effects of Dietary Cholesterol in the Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
2 Short-Term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
3 Investigation of Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
4 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
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 Active, not 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 Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
10 Clinical and Basic Investigations Into Smith-Lemli-Opitz Syndrome Completed NCT00001721
11 Natural History Investigation Into Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism Recruiting NCT05047354
12 Pilot Study of the Use of Functional Near-Infrared Spectroscopy (fNIRS) Combined With Diffuse Correlation Spectroscopy (DCS) in Neurocognitive Disease as Compared to Healthy Neurotypical Controls Recruiting NCT05642221
13 Smith-Lemli Opitz Syndrome: A Clinical Investigation of the Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Terminated NCT01434745 Simvastatin
14 Smith-Lemli-Opitz Syndrome: A Longitudinal Clinical Study of Patients Receiving Cholesterol Supplementation Terminated NCT01356420
15 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 28

Anatomical Context for Van Buchem Disease

Organs/tissues related to Van Buchem Disease:

FMA: Skull
MalaCards : Bone, Spinal Cord, Brain, Eye, Cortex

Publications for Van Buchem Disease

Articles related to Van Buchem Disease:

(show top 50) (show all 207)
# Title Authors PMID Year
1
Genomic deletion of a long-range bone enhancer misregulates sclerostin in Van Buchem disease. 53 62 57
15965026 2005
2
Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease. 53 62 57
11836356 2002
3
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. 62 57
14671168 2003
4
A 52-kb deletion in the SOST-MEOX1 intergenic region on 17q12-q21 is associated with van Buchem disease in the Dutch population. 62 57
12116252 2002
5
Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing protein. 62 57
11179006 2001
6
Localization of the gene for sclerosteosis to the van Buchem disease-gene region on chromosome 17q12-q21. 62 57
10330353 1999
7
Van Buchem disease (hyperostosis corticalis generalisata) maps to chromosome 17q12-q21. 62 57
9463328 1998
8
Facial paralysis at the age of 2 months as a first clinical sign of van Buchem disease (endosteal hyperostosis). 62 57
3276528 1988
9
The syndromic status of sclerosteosis and van Buchem disease. 62 57
6323069 1984
10
Generalized cortical hyperostosis (Van Buchem disease): nosologic considerations. 62 57
198845 1977
11
Hyperostosis corticalis generalisata. Report of seven cases. 62 57
13924477 1962
12
A rare case of bone dystrophy. 57
18135657 1949
13
Sclerostin in mineralized matrices and van Buchem disease. 53 62
19587164 2009
14
Genetic analysis and effect of triiodothyronine and prednisone trial on bone turnover in a patient with craniotubular hyperostosis. 53 62
18538647 2008
15
Osteocyte-derived sclerostin inhibits bone formation: its role in bone morphogenetic protein and Wnt signaling. 53 62
18292354 2008
16
Control of the SOST bone enhancer by PTH using MEF2 transcription factors. 53 62
17696759 2007
17
SOST is a target gene for PTH in bone. 53 62
15946907 2005
18
SOST/sclerostin, an osteocyte-derived negative regulator of bone formation. 53 62
15869900 2005
19
A generalized skeletal hyperostosis in two siblings caused by a novel mutation in the SOST gene. 53 62
15869924 2005
20
Bone morphogenetic proteins and their antagonists: the sclerostin paradigm. 53 62
16323824 2005
21
Polymorphisms in the sclerosteosis/van Buchem disease gene (SOST) region are associated with bone-mineral density in elderly whites. 53 62
15514891 2004
22
Identification of the disease-causing gene in sclerosteosis--discovery of a novel bone anabolic target? 53 62
15615113 2004
23
Macrocephaly and sclerosis of the tubular bones in an isolated patient: a mild case of craniodiaphyseal dysplasia? 53 62
14564212 2003
24
Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. 53 62
12579474 2003
25
Sclerostin ablation prevents aortic valve stenosis in mice. 62
36240434 2022
26
Positive and Negative Regulators of Sclerostin Expression. 62
35563281 2022
27
A Novel Mutation in a Gene Causes Sclerosteosis in a Family of Mediterranean Origin. 62
35208525 2022
28
Identification of Compound Heterozygous Variants in LRP4 Demonstrates That a Pathogenic Variant outside the Third β-Propeller Domain Can Cause Sclerosteosis. 62
35052419 2021
29
Differential diagnosis of a diffuse sclerosis in an identified male skull (early 20th century Coimbra, Portugal): A multimethodological approach for the identification of osteosclerotic dysplasias in skeletonized individuals. 62
34243133 2021
30
Recombinant sclerostin inhibits bone formation in vitro and in a mouse model of sclerosteosis. 62
34249611 2021
31
Sclerostin: from bench to bedside. 62
33206222 2021
32
Low magnitude vibration alleviates age-related bone loss by inhibiting cell senescence of osteogenic cells in naturally senescent rats. 62
33888646 2021
33
Molecular Basis for Craniofacial Phenotypes Caused by Sclerostin Deletion. 62
33078679 2021
34
Looking for new anabolic treatment from rare diseases of bone formation. 62
33258798 2021
35
Anatomical similarity between the Sost-knockout mouse and sclerosteosis in humans. 62
31729194 2020
36
Enostosis, hyperostosis corticalis generalisata and possible overlap syndrome in a 7000 years old mummy from Libya. 62
32707461 2020
37
Titanium particles damage osteocytes and inhibit osteoblast differentiation. 62
32623526 2020
38
A novel biallelic splice-site variant in the LRP4 gene causes sclerosteosis 2. 62
32286743 2020
39
The Osteocyte as the New Discovery of Therapeutic Options in Rare Bone Diseases. 62
32733380 2020
40
Opportunities and Challenges in Functional Genomics Research in Osteoporosis: Report From a Workshop Held by the Causes Working Group of the Osteoporosis and Bone Research Academy of the Royal Osteoporosis Society on October 5th 2020. 62
33658983 2020
41
Sclerostin Antibody-Induced Changes in Bone Mass Are Site Specific in Developing Crania. 62
31441963 2019
42
Elevated plasma RANTES in fibrodysplasia ossificans progressiva - A novel therapeutic target? 62
31443758 2019
43
Methylation of bone SOST impairs SP7, RUNX2, and ERα transactivation in patients with postmenopausal osteoporosis. 62
30257098 2019
44
Deficiency of lrp4 in zebrafish and human LRP4 mutation induce aberrant activation of Jagged-Notch signaling in fin and limb development. 62
30327840 2019
45
High bone mass in adults. 62
29407041 2018
46
Sclerosteosis: Report of type 1 or 2 in three Indian Tamil families and literature review. 62
30077757 2018
47
Conditional Deletion of Sost in MSC-Derived Lineages Identifies Specific Cell-Type Contributions to Bone Mass and B-Cell Development. 62
29750826 2018
48
Clinical utility of bone markers in various diseases. 62
29920402 2018
49
Mutations in the fourth β-propeller domain of LRP4 are associated with isolated syndactyly with fusion of the third and fourth fingers. 62
29524275 2018
50
Sclerostin neutralization unleashes the osteoanabolic effects of Dkk1 inhibition. 62
29875318 2018

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 GeneCards Suite gene sharing:

(show all 41)
# Super pathways Score Top Affiliating Genes
1 13.8 WNT10B WNT1 TGFB1 SOST PTH LRP6
2
Show member pathways
12.92 CTNNB1 DKK1 KREMEN1 LRP5 LRP6 SOST
3
Show member pathways
12.88 WNT10B WNT1 SFRP4 LRP6 LRP5 DKK1
4
Show member pathways
12.84 WNT10B WNT1 SOST SFRP4 LRP6 LRP5
5
Show member pathways
12.51 WNT1 LRP6 LRP5 KREMEN1 DKK1 CTNNB1
6
Show member pathways
12.5 CTNNB1 DKK1 TGFB1 WNT1 WNT10B
7
Show member pathways
12.5 CTNNB1 LRP5 LRP6 SFRP4 TNFSF11 WNT1
8 12.48 WNT10B WNT1 LRP6 LRP5 KREMEN1 DKK1
9 12.33 VDR TNFSF11 TGFB1 PTH LRP5 BGLAP
10 12.29 TGFB1 LRP6 LRP5 DKK1 CTNNB1
11 12.27 WNT10B WNT1 TGFB1 SOST SFRP4 LRP6
12 12.25 WNT10B WNT1 TGFB1 LRP6 LRP5 CTNNB1
13 12.23 WNT10B WNT1 TGFB1 LRP6 LRP5 CTNNB1
14
Show member pathways
12.14 TGFB1 LRP6 LRP5 CTNNB1
15
Show member pathways
12.13 WNT10B WNT1 TGFB1 CTNNB1
16 12.11 WNT10B WNT1 LRP6 LRP5
17 12.11 WNT10B WNT1 TGFB1 SFRP4 CTNNB1
18
Show member pathways
12.02 CTNNB1 RUNX2 TGFB1 WNT1
19 12.02 WNT1 LRP6 LRP5 DKK1 CTNNB1
20
Show member pathways
11.98 WNT10B WNT1 SOST LRP6 LRP5 DKK1
21 11.97 WNT10B TGFB1 SP7 RUNX2 PTH BGLAP
22 11.96 WNT10B WNT1 TGFB1 CTNNB1
23
Show member pathways
11.92 WNT10B TGFB1 RUNX2 CTNNB1
24 11.79 WNT1 TGFB1 LRP6 LRP5 DKK1 CTNNB1
25 11.71 TGFB1 DKK1 CTNNB1
26
Show member pathways
11.71 SP7 RUNX2 COL1A1 BGLAP
28 11.59 WNT1 TNFSF11 TGFB1 DKK1
29 11.57 CTNNB1 DKK1 LRP6 WNT1
30 11.54 WNT1 DKK1 CTNNB1
31 11.49 TGFB1 RUNX2 BGLAP
32 11.45 VDR TNFSF11 RUNX2 PTH COL1A1 BGLAP
33 11.41 SP7 SOST RUNX2 DKK1 CTNNB1
34 11.32 BGLAP COL1A1 PTH RUNX2 TNFSF11 VDR
35 11.26 WNT1 LRP6 LRP5 DKK1
36 11.23 WNT10B TNFSF11 TGFB1 SP7 SOST RUNX2
37 11.15 WNT1 TNFSF11 SP7 LRP6 LRP5 COL1A1
38
Show member pathways
11.12 SOST LRP6 LRP5 KREMEN1 DKK1
39 11.02 CTNNB1 SFRP4 WNT1
40 10.83 VDR TGFB1
41 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 space GO:0005615 10.26 WNT10B WNT1 TNFSF11 TGFB1 SOST SFRP4
2 extracellular region GO:0005576 10.02 BGLAP COL1A1 DKK1 LRP6 MEPE PTH
3 Wnt-Frizzled-LRP5/6 complex GO:1990851 9.46 LRP6 LRP5
4 Wnt signalosome GO:1990909 9.1 LRP6 LRP5 CTNNB1

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

(show all 50)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of DNA-templated transcription GO:0045893 10.51 WNT1 TGFB1 SOST RUNX2 LRP6 LRP5
2 positive regulation of gene expression GO:0010628 10.4 CTNNB1 DKK1 PTH RUNX2 SFRP4 TGFB1
3 positive regulation of transcription by RNA polymerase II GO:0045944 10.38 CTNNB1 LRP5 LRP6 MEOX1 PTH RUNX2
4 response to xenobiotic stimulus GO:0009410 10.31 BGLAP COL1A1 CTNNB1 PTH TGFB1
5 positive regulation of osteoblast differentiation GO:0045669 10.21 CTNNB1 LRP5 RUNX2 WNT10B
6 negative regulation of canonical Wnt signaling pathway GO:0090090 10.21 SOST SFRP4 LRP4 KREMEN1 DKK1 CTNNB1
7 positive regulation of canonical Wnt signaling pathway GO:0090263 10.19 WNT10B TGFB1 SFRP4 COL1A1
8 response to mechanical stimulus GO:0009612 10.18 SOST COL1A1 BGLAP
9 negative regulation of Wnt signaling pathway GO:0030178 10.16 DKK1 SFRP4 SOST
10 embryonic digit morphogenesis GO:0042733 10.16 CTNNB1 LRP4 LRP5
11 positive regulation of epithelial to mesenchymal transition GO:0010718 10.15 COL1A1 CTNNB1 TGFB1
12 positive regulation of DNA-binding transcription factor activity GO:0051091 10.15 WNT10B WNT1 TNFSF11 LRP6 LRP5 CTNNB1
13 osteoblast differentiation GO:0001649 10.14 BGLAP COL1A1 CTNNB1 RUNX2 SP7 WNT10B
14 ossification GO:0001503 10.13 BGLAP COL1A1 RUNX2 SOST TNFSF11
15 odontogenesis of dentin-containing tooth GO:0042475 10.12 CTNNB1 LRP4 RUNX2 TGFB1
16 chondrocyte differentiation GO:0002062 10.11 WNT10B TGFB1 RUNX2 CTNNB1
17 negative regulation of fat cell differentiation GO:0045599 10.09 WNT10B WNT1 TGFB1
18 bone resorption GO:0045453 10.09 CTNNB1 PTH TNFSF11
19 stem cell proliferation GO:0072089 10.08 TGFB1 RUNX2 CTNNB1
20 positive regulation of bone mineralization GO:0030501 10.08 PTH TGFB1 VDR WNT10B
21 osteoblast development GO:0002076 10.07 RUNX2 LRP5 BGLAP
22 limb development GO:0060173 10.07 LRP4 KREMEN1 DKK1 CTNNB1
23 positive regulation of stem cell proliferation GO:2000648 10.06 TGFB1 RUNX2 CTNNB1
24 osteoclast differentiation GO:0030316 10.06 TNFSF11 TGFB1 CTNNB1
25 bone development GO:0060348 10.06 WNT1 TNFSF11 LRP5 BGLAP
26 face morphogenesis GO:0060325 10.04 COL1A1 DKK1 TGFB1
27 response to organic cyclic compound GO:0014070 10.03 TGFB1 SP7 COL1A1 BGLAP
28 skeletal system development GO:0001501 10.03 BGLAP COL1A1 CTNNB1 MEPE PTH RUNX2
29 cell population proliferation GO:0008283 10.02 WNT10B WNT1 TGFB1 RUNX2 CTNNB1
30 T cell differentiation GO:0030217 10.02 WNT10B TGFB1 RUNX2 CTNNB1
31 positive regulation of hematopoietic stem cell proliferation GO:1902035 10.01 WNT10B WNT1
32 cellular response to zinc ion starvation GO:0034224 10 SP7 BGLAP
33 response to vitamin D GO:0033280 10 TGFB1 PTH BGLAP
34 bone trabecula formation GO:0060346 9.99 WNT10B COL1A1
35 neuron fate determination GO:0048664 9.99 WNT1 CTNNB1
36 tooth eruption GO:0044691 9.98 TNFSF11 COL1A1
37 embryonic axis specification GO:0000578 9.98 WNT1 CTNNB1
38 Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation GO:1904953 9.97 WNT1 LRP6
39 cell morphogenesis involved in differentiation GO:0000904 9.97 DKK1 CTNNB1
40 Wnt signaling pathway involved in somitogenesis GO:0090244 9.95 LRP6 DKK1
41 canonical Wnt signaling pathway involved in midbrain dopaminergic neuron differentiation GO:1904954 9.95 WNT1 CTNNB1
42 astrocyte-dopaminergic neuron signaling GO:0036520 9.93 WNT1 CTNNB1
43 midbrain dopaminergic neuron differentiation GO:1904948 9.91 WNT1 LRP6 CTNNB1
44 response to nutrient levels GO:0031667 9.88 PTH COL1A1 BGLAP
45 negative regulation of cell differentiation GO:0045596 9.88 WNT1 TGFB1 CTNNB1
46 regulation of osteoclast differentiation GO:0045670 9.86 TNFSF11 CTNNB1 BGLAP
47 canonical Wnt signaling pathway GO:0060070 9.86 CTNNB1 DKK1 LRP5 LRP6 SFRP4 SOST
48 multicellular organism development GO:0007275 9.85 WNT10B WNT1 VDR KREMEN1 DKK1
49 negative regulation of ossification GO:0030279 9.81 TGFB1 SOST LRP4 KREMEN1 DKK1
50 Wnt signaling pathway GO:0016055 9.44 WNT10B WNT1 SOST SFRP4 LRP6 LRP5

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 9.85 WNT10B WNT1 PTH
2 frizzled binding GO:0005109 9.73 WNT10B WNT1 LRP6
3 Wnt-protein binding GO:0017147 9.63 SFRP4 LRP6 LRP5
4 toxin transmembrane transporter activity GO:0019534 9.5 LRP6 LRP5
5 coreceptor activity involved in canonical Wnt signaling pathway GO:1904928 9.26 LRP6 LRP5
6 coreceptor activity involved in Wnt signaling pathway GO:0071936 8.92 LRP6 LRP5

Sources for Van Buchem Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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