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VBCH
MCID: VNB005
MIFTS: 58
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Van Buchem Disease (VBCH)
Categories:
Bone diseases, Fetal diseases, Genetic diseases, Rare diseases
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MalaCards integrated aliases for Van Buchem Disease:
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; HPO:31Classifications:
MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases Anatomical: Bone diseases
ICD10:
33
Orphanet: 58
Rare bone diseases
Developmental anomalies during embryogenesis |
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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... |
Human phenotypes related to Van Buchem Disease:58 31 (show all 16)
Symptoms via clinical synopsis from OMIM®:57 (Updated 20-May-2021)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)
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Drugs for Van Buchem Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 9)
Interventional clinical trials:(show all 13)
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Genetic tests related to Van Buchem Disease:
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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
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Articles related to Van Buchem Disease:(show top 50) (show all 106)
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Genes related to Van Buchem Disease (2 elite genes):(show all 23) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Van Buchem Disease:6
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Search
GEO
for disease gene expression data for Van Buchem Disease.
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Pathways related to Van Buchem Disease according to KEGG:36
Pathways related to Van Buchem Disease according to GeneCards Suite gene sharing:(show all 46)
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Cellular components related to Van Buchem Disease according to GeneCards Suite gene sharing:
Biological processes related to Van Buchem Disease according to GeneCards Suite gene sharing:(show top 50) (show all 68)
Molecular functions related to Van Buchem Disease according to GeneCards Suite gene sharing:
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