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CRBM
MCID: CHR003
MIFTS: 56
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Cherubism (CRBM)
Categories:
Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases
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MalaCards integrated aliases for Cherubism:
Characteristics:Orphanet epidemiological data:60
cherubism
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Childhood; Age of death: normal life expectancy; OMIM:58
Inheritance:
autosomal dominant
Miscellaneous:
onset 14 months to 4 years of age progresses through puberty, then stabilizes may regress in adulthood HPO:33GeneReviews:25
Penetrance
Penetrance has not been systematically studied in cherubism. a previous report of reduced penetrance in females compared to males [anderson &mcclendon 1962] was subsequently shown to have bias in terms of how unaffected status was ascribed to the adult females [reichenberger et al 2012]...
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Bone diseases Blood diseases Oral diseases
ICD10:
35
Orphanet: 60
Rare systemic and rhumatological diseases
Rare bone diseases
Developmental anomalies during embryogenesis
Rare immunological diseases
Rare odontological diseases
External Ids:
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Genetics Home Reference
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26
Cherubism is a disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths. These growths give the cheeks a swollen, rounded appearance and often interfere with normal tooth development. In some people the condition is so mild that it may not be noticeable, while other cases are severe enough to cause problems with vision, breathing, speech, and swallowing. Enlargement of the jaw usually continues throughout childhood and stabilizes during puberty. The abnormal growths are gradually replaced with normal bone in early adulthood. As a result, many affected adults have a normal facial appearance.
MalaCards based summary : Cherubism, also known as crbm, is related to bone disease and ramon syndrome. An important gene associated with Cherubism is SH3BP2 (SH3 Domain Binding Protein 2), and among its related pathways/superpathways are Natural killer cell mediated cytotoxicity and Cytokine Signaling in Immune system. Affiliated tissues include bone, testes and lymph node, and related phenotypes are full cheeks and bone cyst NIH Rare Diseases : 54 Cherubism is a rare disorder characterized by progressive, painless, bilateral swelling of the jaw during childhood. This fibro-osseous (bone structure) condition is self-limiting, with symptoms typically resolving in adulthood. Diagnosis is based on a combination of clinical signs, family history, radiographic findings (panoramic x-rays, CT scan), biopsy, and genetic testing. Cherubism is inherited in an autosomal dominant fashion and is caused by mutations in the SH3BP2 gene. Treatment tends to be conservative (wait-and-see), with surgery reserved for the most severe cases. UniProtKB/Swiss-Prot : 76 Cherubism: An autosomal dominant syndrome characterized by excessive bone degradation of the upper and lower jaws, which often begins around three years of age. It is followed by development of fibrous tissue masses, which causes a characteristic facial swelling. Wikipedia : 77 Cherubism is a rare genetic disorder that causes prominence in the lower portion in the face. The name... more...
Description from OMIM:
118400
GeneReviews:
NBK1137
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Human phenotypes related to Cherubism:60 33 (show all 23)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:118400MGI Mouse Phenotypes related to Cherubism:47 (show all 15)
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Interventional clinical trials:
Cochrane evidence based reviews: cherubism |
MalaCards organs/tissues related to Cherubism:42
Bone,
Testes,
Lymph Node,
Bone Marrow,
Ovary,
B Cells,
Myeloid
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Articles related to Cherubism:(show top 50) (show all 282)
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Genes related to Cherubism (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Cherubism:76
ClinVar genetic disease variations for Cherubism:6 (show top 50) (show all 410)
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Pathways related to Cherubism according to KEGG:38
Pathways related to Cherubism according to GeneCards Suite gene sharing:(show all 26)
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Cellular components related to Cherubism according to GeneCards Suite gene sharing:
Biological processes related to Cherubism according to GeneCards Suite gene sharing:(show all 18)
Molecular functions related to Cherubism according to GeneCards Suite gene sharing:
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