CRBM
MCID: CHR003
MIFTS: 50

Cherubism (CRBM) malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Blood diseases, Oral diseases

Aliases & Classifications for Cherubism

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Cherubism:

Name: Cherubism 52 11 23 48 24 25 54 70 12 50 39 13 68
Crbm 48 54 70
Familial Multilocular Cystic Disease of the Jaws 25
 
Familial Benign Giant-Cell Tumor of the Jaw 25
Familial Fibrous Dysplasia of Jaw 25

Characteristics:

Orphanet epidemiological data:

54
cherubism:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Childhood; Age of death: normal life expectancy

HPO:

64
cherubism:
Inheritance: autosomal dominant inheritance
Onset and clinical course: childhood onset

GeneReviews:

23
Penetrance: penetrance is close to 100% in males and 50%-75% in females [anderson & mcclendon 1962, roginsky et al 2009]. ...


Classifications:



External Ids:

OMIM52 118400
Disease Ontology11 DOID:1856
ICD1030 M27.8
MeSH39 D002636
NCIt45 C84630
SNOMED-CT62 53432004, 76098004
Orphanet54 ORPHA184
UMLS via Orphanet69 C0008029
MESH via Orphanet40 D002636
ICD10 via Orphanet31 K10.8
MedGen37 C0008029

Summaries for Cherubism

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Genetics Home Reference:25 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 ramon syndrome and noonan-like/multiple giant cell lesion syndrome, and has symptoms including Array, Array and Array. An important gene associated with Cherubism is SH3BP2 (SH3 Domain Binding Protein 2), and among its related pathways are Alzheimers Disease Pathway and Integrins in angiogenesis. Affiliated tissues include bone, testes and b cells, and related mouse phenotypes are neoplasm and craniofacial.

NIH Rare Diseases:48 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. last updated: 3/11/2017

UniProtKB/Swiss-Prot:70 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:71 Cherubism is a rare genetic disorder that causes prominence in the lower portion in the face. The name... more...

Description from OMIM:52 118400

GeneReviews for NBK1137

Related Diseases for Cherubism

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Graphical network of the top 20 diseases related to Cherubism:



Diseases related to cherubism

Symptoms & Phenotypes for Cherubism

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Symptoms by clinical synopsis from OMIM:

118400

Clinical features from OMIM:

118400

Human phenotypes related to Cherubism:

 54 64 (show all 22)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the teeth54 Frequent (79-30%)
2 abnormality of the mandible54 Very frequent (99-80%)
3 full cheeks64 54 Very frequent (99-80%) HP:0000293
4 visual impairment64 54 Occasional (29-5%) HP:0000505
5 proptosis64 54 Occasional (29-5%) HP:0000520
6 progressive visual loss64 54 Occasional (29-5%) HP:0000529
7 optic atrophy64 54 Occasional (29-5%) HP:0000648
8 oligodontia64 54 Frequent (79-30%) HP:0000677
9 abnormality of the voice64 54 Occasional (29-5%) HP:0001608
10 upper airway obstruction64 54 Occasional (29-5%) HP:0002781
11 obstructive sleep apnea64 54 Occasional (29-5%) HP:0002870
12 abnormality of dental morphology64 54 Frequent (79-30%) HP:0006482
13 feeding difficulties in infancy64 54 Occasional (29-5%) HP:0008872
14 bone cyst64 54 Very frequent (99-80%) HP:0012062
15 broad jaw64 54 Very frequent (99-80%) HP:0012802
16 round face64 HP:0000311
17 striae distensae64 HP:0001065
18 constriction of peripheral visual field64 HP:0001133
19 optic neuropathy64 HP:0001138
20 reduced visual acuity64 HP:0007663
21 macular scar64 HP:0200056
22 marcus gunn pupil64 HP:0200057

MGI Mouse Phenotypes related to Cherubism according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.3FGFR3, PTPN11, SRC, TNFSF11
2MP:00053829.0FGFR3, PTPN11, SH3BP2, SRC, TNFSF11
3MP:00053719.0FGFR3, PTPN11, SH3BP2, SRC, TNFSF11
4MP:00053888.9FGFR3, PTPN11, SH3BP2, SRC, TNFSF11
5MP:00107718.6FGFR3, PTPN11, SH3BP2, SRC, TNFSF11, TNKS
6MP:00053918.2FGFR3, PTPN11, SH3BP2, SRC, TNFSF11
7MP:00107687.7FGFR3, PTPN11, SH3BP2, SRC, STRN, TNFSF11

Drugs & Therapeutics for Cherubism

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Natural History of Cherubism Observational StudyCompletedNCT01916772
2Genetic and Functional Analysis of CherubismRecruitingNCT01630447

Search NIH Clinical Center for Cherubism


Cochrane evidence based reviews: cherubism

Genetic Tests for Cherubism

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Genetic tests related to Cherubism:

id Genetic test Affiliating Genes
1 Cherubism24 SH3BP2

Anatomical Context for Cherubism

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MalaCards organs/tissues related to Cherubism:

36
Bone, Testes, B cells, Ovary, Bone marrow

Publications for Cherubism

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Articles related to Cherubism:

(show top 50)    (show all 252)
idTitleAuthorsYear
1
Nonfamilial cherubism: A case report and review of literature. (28479714)
2017
2
Cherubism: An Unusual Study With Long-Term Follow-Up. (27315317)
2016
3
Cherubism. A case report. (27427211)
2016
4
Case Report of Nonfamilial Cherubism in a Toddler: Description of Clinic-Radiographic Features and Osseous-Dental Treatments. (28105052)
2016
5
Early Presentation of Cherubism. (27567661)
2016
6
Defining a new aggressiveness classification and using NFATc1 localization as a prognostic factor in cherubism. (27498064)
2016
7
Non-Familial Cherubism with Bilateral Maxilla and Mandible Involvement - Clinicoradiographic Findings. (27588230)
2016
8
Cherubism: A Case Report with Surgical Intervention. (27272835)
2016
9
Cherubism in sub-saharan Africa: a first case-report in a child. (25918610)
2015
10
Cherubism misdiagnosed as giant cell tumor: a case report and review of literature. (26064398)
2015
11
Cherubism allele heterozygosity amplifies microbe-induced inflammatory responses in murine macrophages. (25705883)
2015
12
Recurrent cherubism in an adult patient. (25933153)
2015
13
The calcineurin inhibitor tacrolimus as a new therapy in severe cherubism. (25491283)
2015
14
Cherubism With Bilateral Mandible and Maxilla Involvement: A Case Report. (26656340)
2015
15
Cherubism: a case report. (25861190)
2015
16
Cherubism. (25606831)
2015
17
Painless bilateral swelling of the face: think about cherubism. (26245886)
2015
18
Cherubism Study Results May Apply to Common Inflammatory Bone Diseases. (26473261)
2015
19
Late Reactivation of Cherubism in a Patient With New-Onset Polycystic Ovary Syndrome. (25957872)
2015
20
Fibrous dysplasia and cherubism. (26933277)
2015
21
Oral and Maxillofacial Pathology. Case of Month. Cherubism. (26237934)
2015
22
Bone marrow transplantation improves autoinflammation and inflammatory bone loss in SH3BP2 knock-in cherubism mice. (25445458)
2015
23
Ophthalmic manifestations of cherubism. (25727591)
2015
24
A case of cherubism with spondyloarthropathy. (25960037)
2015
25
Clinicoradiologic features of cherubism: a case report and literature review. (25184726)
2014
26
Cherubism: A rare case report. (25097445)
2014
27
Living with orofacial conditions: psychological distress and quality of life in adults affected with Treacher Collins syndrome, cherubism, or oligodontia/ectodermal dysplasia-a comparative study. (25344415)
2014
28
Cherubism with multiple dental abnormalities: a rare presentation. (25301429)
2014
29
Familial case of cherubism from South India: differential diagnosis and report of 2 cases. (25548687)
2014
30
Cherubism: a case report. (25178340)
2014
31
SH3BP2 Cherubism Mutation Potentiates TNF-I+-Induced Osteoclastogenesis Via NFATc1 and TNF-I+-Mediated Inflammatory Bone Loss. (24916406)
2014
32
Etanercept administration to neonatal SH3BP2 knock-in cherubism mice prevents TNF-I+-induced inflammation and bone loss. (24978678)
2014
33
A c.1244G>A (p.Arg415Gln) mutation in SH3BP2 gene causes cherubism in a Turkish family: report of a family with review of the literature. (24608212)
2014
34
Non-hereditary cherubism. (24959043)
2014
35
Orthodontic treatment in cherubism: an overview and a case report. (25549525)
2014
36
Non-familial cherubism: clinical and radiological findings. (24695657)
2014
37
Enhanced TLR-MYD88 signaling stimulates autoinflammation in SH3BP2 cherubism mice and defines the etiology of cherubism. (25220465)
2014
38
Odontogenic Myxoma of the Face: Mimicry of Cherubism. (25200927)
2014
39
Postpubertal cherubism with Noonan syndrome. (24718001)
2014
40
Cherubism: Report of Three Cases and Literature Review. (25264591)
2014
41
Cherubism: a case report of a three-generation inheritance and literature review. (24280174)
2014
42
Maxillo-facial radiology case 120. Cherubism. (24984391)
2014
43
A possible case of cherubism in a 17th-century Korean mummy. (25093864)
2014
44
Erratum to: Living with orofacial conditions: psychological distress and quality of life in adults affected with Treacher Collins syndrome, cherubism, or oligodontia/ectodermal dysplasia-a comparative study. (25480422)
2014
45
Cherubism. (23833006)
2013
46
Rare form of cherubism: Case report with review of literature. (23956593)
2013
47
Cherubism: Report of a case. (24124304)
2013
48
Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life. (23298620)
2013
49
Analysis of giant cell tumour of bone cells for Noonan syndrome/cherubism-related mutations. (22725657)
2013
50
Clinical and imagiological findings of central giant cell lesion and cherubism. (23657418)
2013

Variations for Cherubism

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UniProtKB/Swiss-Prot genetic disease variations for Cherubism:

70
id Symbol AA change Variation ID SNP ID
1SH3BP2p.Arg415ProVAR_013257rs121909149
2SH3BP2p.Arg415GlnVAR_013258rs121909149
3SH3BP2p.Pro418HisVAR_013259rs121909146
4SH3BP2p.Pro418LeuVAR_013260rs121909146
5SH3BP2p.Pro418ArgVAR_013261rs121909146
6SH3BP2p.Gly420GluVAR_013262rs28938171
7SH3BP2p.Gly420ArgVAR_013263rs28938170

Clinvar genetic disease variations for Cherubism:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SH3BP2NM_ 001122681.1(SH3BP2): c.1253C> T (p.Pro418Leu)SNVPathogenicrs121909146GRCh37Chr 4, 2833309: 2833309
2SH3BP2NM_ 003023.4(SH3BP2): c.1253C> G (p.Pro418Arg)SNVPathogenicrs121909146GRCh37Chr 4, 2833309: 2833309
3SH3BP2NM_ 001122681.1(SH3BP2): c.1253C> A (p.Pro418His)SNVPathogenicrs121909146GRCh37Chr 4, 2833309: 2833309
4SH3BP2NM_ 001122681.1(SH3BP2): c.1244G> C (p.Arg415Pro)SNVPathogenicrs121909149GRCh37Chr 4, 2833300: 2833300
5SH3BP2NM_ 001122681.1(SH3BP2): c.1244G> A (p.Arg415Gln)SNVPathogenicrs121909149GRCh37Chr 4, 2833300: 2833300
6SH3BP2NM_ 001122681.1(SH3BP2): c.1258G> C (p.Gly420Arg)SNVPathogenicrs28938170GRCh37Chr 4, 2833314: 2833314
7SH3BP2NM_ 001122681.1(SH3BP2): c.1259G> A (p.Gly420Glu)SNVPathogenicrs28938171GRCh37Chr 4, 2833315: 2833315

Expression for genes affiliated with Cherubism

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Search GEO for disease gene expression data for Cherubism.

Pathways for genes affiliated with Cherubism

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Pathways related to Cherubism according to GeneCards Suite gene sharing:

(show all 16)
idSuper pathwaysScoreTop Affiliating Genes
19.7FGFR3, SRC
29.5PTPN11, SRC
39.5PTPN11, SRC
49.5PTPN11, SRC
59.5PTPN11, SRC
69.5PTPN11, SRC
79.5PTPN11, SRC
89.5PTPN11, SRC
99.5PTPN11, SRC
109.2SRC, STRN
11
Show member pathways
9.2FGFR3, PTPN11, SRC
12
Show member pathways
9.2FGFR3, PTPN11, SRC
13
Show member pathways
9.2FGFR3, PTPN11, SRC
14
Show member pathways
9.1PTPN11, SRC, TNKS
15
Show member pathways
8.9PTPN11, SRC, TNFSF11
16
Show member pathways
8.9PTPN11, SRC, TNFSF11

GO Terms for genes affiliated with Cherubism

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Biological processes related to Cherubism according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1phosphatidylinositol-3-phosphate biosynthetic processGO:003609210.2FGFR3, PTPN11
2epidermal growth factor receptor signaling pathwayGO:000717310.2PTPN11, SRC
3neurotrophin TRK receptor signaling pathwayGO:004801110.2PTPN11, SRC
4positive regulation of phosphatidylinositol 3-kinase activityGO:004355210.2FGFR3, SRC
5platelet-derived growth factor receptor signaling pathwayGO:004800810.2PTPN11, SRC
6bone resorptionGO:004545310.1SRC, TNFSF11
7positive regulation of intracellular signal transductionGO:190253310.0SRC, TNFSF11
8positive regulation of MAP kinase activityGO:004340610.0SRC, TNFSF11
9positive regulation of ERK1 and ERK2 cascadeGO:00703749.7FGFR3, PTPN11, SRC
10positive regulation of signal transductionGO:00099679.6PTPN11, SH3BP2

Molecular functions related to Cherubism according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
11-phosphatidylinositol-3-kinase activityGO:001630310.2FGFR3, PTPN11
2cell adhesion molecule bindingGO:005083910.1PTPN11, SRC
3insulin receptor bindingGO:000515810.1PTPN11, SRC
4phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:004693410.0FGFR3, PTPN11
5estrogen receptor bindingGO:00303319.8SRC, STRN
6SH3/SH2 adaptor activityGO:00050709.2PTPN11, SH3BP2, SRC

Sources for Cherubism

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet