Details of Disease

General Information of Disease (ID: DISHLJI0)

Disease Name Cherubism
Synonyms Crbm; familial multilocular cystic disease of the jaws; CRBM; familial fibrous dysplasia of the jaws; cherubism
Definition
Cherubism is a rare, self-limiting, fibro-osseous, genetic disease of childhood and adolescence characterized by varying degrees of progressive bilateral enlargement of the mandible and/or maxilla, with clinical repercussions in severe cases.|This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'immune system disorder' (MONDO:0005046) ontology branch (https://orcid.org/0000-0001-8216-5084)
Disease Hierarchy
DISGXLG5: Hereditary neoplastic syndrome
DISCMCGL: Autoinflammatory syndrome
DISD0WVL: Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
DIS5PU87: Skeletal system disorder
DIS3HIWD: Autosomal dominant disease
DIS8I9FS: Hereditary disorder of connective tissue
DISHLJI0: Cherubism
Disease Identifiers
MONDO ID
MONDO_0007315
MESH ID
D002636
UMLS CUI
C0008029
OMIM ID
118400
MedGen ID
40219
Orphanet ID
184
SNOMED CT ID
76098004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SH3BP5 OTOOEGUJ Disputed Genetic Variation [1]
BAMBI OTCEJ8W5 moderate Altered Expression [2]
PLCG2 OTGVC9MY moderate Biomarker [3]
NFATC1 OT4TMERS Strong Biomarker [4]
PSTPIP2 OTG6F93V Strong Biomarker [5]
SH3BP2 OT90JNBS Strong Autosomal dominant [1]
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⏷ Show the Full List of 6 DOT(s)

References

1 Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Nat Genet. 2001 Jun;28(2):125-6. doi: 10.1038/88832.
2 Rescue of a cherubism bone marrow stromal culture phenotype by reducing TGF signaling.Bone. 2018 Jun;111:28-35. doi: 10.1016/j.bone.2018.03.009. Epub 2018 Mar 9.
3 SH3BP2 cherubism mutation potentiates TNF--induced osteoclastogenesis via NFATc1 and TNF--mediated inflammatory bone loss.J Bone Miner Res. 2014 Dec;29(12):2618-35. doi: 10.1002/jbmr.2295.
4 Defining a new aggressiveness classification and using NFATc1 localization as a prognostic factor in cherubism.Hum Pathol. 2016 Dec;58:62-71. doi: 10.1016/j.humpath.2016.07.019. Epub 2016 Aug 3.
5 Autoinflammatory bone disorders.Curr Opin Rheumatol. 2007 Sep;19(5):492-8. doi: 10.1097/BOR.0b013e32825f5492.