MCID: CHR003
MIFTS: 54

Cherubism malady

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

Aliases & Classifications for Cherubism

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 65UMLS, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Cherubism:

Name: Cherubism 49 10 11 21 45 22 23 47 12 51 67 36 65
Crbm 45 51 67
Familial Multilocular Cystic Disease of the Jaws 23
 
Familial Benign Giant-Cell Tumor of the Jaw 23
Familial Fibrous Dysplasia of Jaw 23

Characteristics:

Orphanet epidemiological data:

51
cherubism:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Childhood; Age of death: normal life expectancy

HPO:

61
cherubism:
Onset and clinical course: childhood onset
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 118400
Disease Ontology10 DOID:1856
ICD1027 M27.8
MeSH36 D002636
NCIt42 C84630
SNOMED-CT59 53432004, 76098004
Orphanet51 184
ICD10 via Orphanet28 K10.8
MESH via Orphanet37 D002636
UMLS via Orphanet66 C0008029
MedGen34 C0008029
UMLS65 C0008029

Summaries for Cherubism

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Genetics Home Reference:23 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 al gazali khidr prem chandran syndrome, and has symptoms including neoplasm of the skeletal system, abnormality of the mandible and reduced number of teeth. An important gene associated with Cherubism is SH3BP2 (SH3 Domain Binding Protein 2), and among its related pathways are Bladder cancer and Alzheimers Disease Pathway. Affiliated tissues include bone, thyroid and breast, and related mouse phenotypes are craniofacial and respiratory system.

NIH Rare Diseases:45 Cherubism is a rare disorder characterized by abnormal bone tissue in the lower part of the face. the enlarged bone is replaced with painless, cyst-like growths that give the cheeks a swollen, rounded appearance and frequently interfere with normal tooth development. the condition may be mild or severe. people with the severe form may have problems with vision, breathing, speech, and swallowing. many adults with cherubism have a normal facial appearance. most people with cherubism do not any other signs and symptoms. the condition is inherited in an autosomal dominant fashion and is caused by mutations in the sh3bp2 gene., in most cases. last updated: 8/17/2010

UniProtKB/Swiss-Prot:67 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:68 Cherubism is a rare genetic disorder that causes prominence in the lower portion in the face. The name... more...

Description from OMIM:49 118400

GeneReviews summary 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 for Cherubism

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Symptoms by clinical synopsis from OMIM:

118400

Clinical features from OMIM:

118400

Symptoms:

 51 (show all 13)
  • high cheek bones
  • enlargment of jaw/large jaw
  • bone/osseous neoplasm/tumor/carcinoma/cancer
  • autosomal dominant inheritance
  • tooth shape anomaly
  • anodontia/oligodontia/hypodontia
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • proptosis/exophthalmos
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • visual loss/blindness/amblyopia
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • apnea/sleep apnea
  • abnormal cry/voice/phonation disorder/nasal speech

HPO human phenotypes related to Cherubism:

(show all 20)
id Description Frequency HPO Source Accession
1 neoplasm of the skeletal system hallmark (90%) HP:0010622
2 abnormality of the mandible hallmark (90%) HP:0000277
3 reduced number of teeth typical (50%) HP:0009804
4 abnormality of dental morphology typical (50%) HP:0006482
5 feeding difficulties in infancy occasional (7.5%) HP:0008872
6 apnea occasional (7.5%) HP:0002104
7 abnormality of the voice occasional (7.5%) HP:0001608
8 optic atrophy occasional (7.5%) HP:0000648
9 proptosis occasional (7.5%) HP:0000520
10 visual impairment occasional (7.5%) HP:0000505
11 marcus gunn pupil HP:0200057
12 macular scarring HP:0200056
13 reduced visual acuity HP:0007663
14 optic neuropathy HP:0001138
15 constriction of peripheral visual field HP:0001133
16 striae distensae HP:0001065
17 oligodontia HP:0000677
18 proptosis HP:0000520
19 visual impairment HP:0000505
20 round face HP:0000311

Drugs & Therapeutics for Cherubism

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Natural History of Cherubism Observational StudyRecruitingNCT01916772
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 Cherubism22 SH3BP2

Anatomical Context for Cherubism

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MalaCards organs/tissues related to Cherubism:

33
Bone, Thyroid, Breast, Prostate, Bone marrow, T cells, Monocytes

Animal Models for Cherubism or affiliated genes

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MGI Mouse Phenotypes related to Cherubism:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.8FGFR3, PTPN11, SH3BP2, SRC, TNFSF11
2MP:00053888.8FAT4, FGFR3, PTPN11, SH3BP2, SRC
3MP:00030128.6FAT4, FGFR3, PTPN11, TNFSF11, TNKS
4MP:00107718.5FGFR3, PTPN11, SH3BP2, SRC, TNFSF11, TNKS
5MP:00053718.4FAT4, FGFR3, PTPN11, SH3BP2, SRC, TNFSF11
6MP:00053908.0FAT4, FGFR3, PTPN11, SH3BP2, SRC, TNFSF11

Publications for Cherubism

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Articles related to Cherubism:

(show top 50)    (show all 244)
idTitleAuthorsYear
1
Cherubism in sub-saharan Africa: a first case-report in a child. (25918610)
2015
2
Bone marrow transplantation improves autoinflammation and inflammatory bone loss in SH3BP2 knock-in cherubism mice. (25445458)
2015
3
Cherubism misdiagnosed as giant cell tumor: a case report and review of literature. (26064398)
2015
4
Painless bilateral swelling of the face: think about cherubism. (26245886)
2015
5
Cherubism Study Results May Apply to Common Inflammatory Bone Diseases. (26473261)
2015
6
Cherubism with multiple dental abnormalities: a rare presentation. (25301429)
2014
7
Non-hereditary cherubism. (24959043)
2014
8
Cherubism: A rare case report. (25097445)
2014
9
Enhanced TLR-MYD88 signaling stimulates autoinflammation in SH3BP2 cherubism mice and defines the etiology of cherubism. (25220465)
2014
10
Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life. (23298620)
2013
11
Mutations of the SH3BP2 gene in 2 families of cherubism. (22795151)
2012
12
The surgical and orthodontic management of cherubism in a growing child. (21676623)
2012
13
Clinical and radiological features of nonfamilial cherubism: A case report. (23049582)
2012
14
Loss of Tankyrase-mediated destruction of 3BP2 is the underlying pathogenic mechanism of cherubism. (22153076)
2011
15
SH3BP2-encoding exons involved in cherubism are not associated with central giant cell granuloma. (21680150)
2011
16
Enhancement of B-cell receptor signaling by a point mutation of adaptor protein 3BP2 identified in human inherited disease cherubism. (21794028)
2011
17
Cherubism: clinicoradiographic features and treatment. (24421967)
2010
18
Oral and maxillofacial pathology. Case of the month: cherubism. (19388439)
2009
19
A cherubism with aneurysmal bone cyst. (19386735)
2009
20
Fine-needle aspiration cytological features of Cherubism. (18232001)
2008
21
Frequency of USP6 rearrangements in myositis ossificans, brown tumor, and cherubism: molecular cytogenetic evidence that a subset of "myositis ossificans-like lesions" are the early phases in the formation of soft-tissue aneurysmal bone cyst. (18265974)
2008
22
A new mutation in the SH3BP2 gene showing reduced penetrance in a family affected with cherubism. (17321449)
2007
23
Cherubism in siblings: A case report. (17456964)
2007
24
Jawing about TNF: new hope for cherubism. (17218248)
2007
25
Clinicopathologic study of 24 cases of cherubism. (16053841)
2005
26
Cherubism: clinical evidence and therapy. (12621291)
2003
27
An extreme case of cherubism. (11883969)
2002
28
Cherubism. (23119899)
2002
29
Cherubism--clinical picture and treatment. (11355438)
2001
30
Orbital involvement in cherubism. (11272784)
2001
31
Aggressive form of cherubism: report of a case. (10716121)
2000
32
Cherubism: a 36-year long-term follow-up of 2 generations in different families and review of the literature. (11113824)
2000
33
Familial craniofacial fibrous dysplasia: absence of linkage to GNAS1 and the gene for cherubism. (11073546)
2000
34
Cherubism: clinicopathologic features. (10450884)
1999
35
Cherubism: a study of three generations. (11507493)
1998
36
Cherubism: a radiological and clinical presentation. (9763913)
1998
37
Imaging quiz case 2. Cherubism. (9006516)
1997
38
Cherubism: presentation of a case. (9188969)
1997
39
Cherubism: report of an aggressive case and review of the literature. (8492214)
1993
40
Cherubism: diagnosis, treatment, and comparison with central giant cell granulomas and giant cell tumors. (1545971)
1992
41
The computed tomographic appearances of cherubism. (3823963)
1987
42
Cherubism: two case reports and a review of the literature. (3466413)
1986
43
An unusually extensive case of cherubism. (3457129)
1986
44
Cherubism--a case report. (3759886)
1986
45
Cherubism, gingival fibromatosis, epilepsy, and mental deficiency (Ramon syndrome) with juvenile rheumatoid arthritis. (3789007)
1986
46
Cherubism: report of a nonfamilial case. (3862707)
1985
47
Cherubism: a study of twenty cases from one family. (285398)
1979
48
Cherubism--an initial unilateral presentation. (280369)
1978
49
Non familial cherubism: report of two cases. (4515489)
1973
50
Cherubism. The hereditary form of fibrous dysplasia localized to the jaws. (5150866)
1971

Variations for Cherubism

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UniProtKB/Swiss-Prot genetic disease variations for Cherubism:

67
id Symbol AA change Variation ID SNP ID
1SH3BP2p.Arg415ProVAR_013257
2SH3BP2p.Arg415GlnVAR_013258
3SH3BP2p.Pro418HisVAR_013259
4SH3BP2p.Pro418LeuVAR_013260
5SH3BP2p.Pro418ArgVAR_013261
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)single nucleotide variantPathogenicrs121909146GRCh37Chr 4, 2833309: 2833309
2SH3BP2NM_001122681.1(SH3BP2): c.1253C> G (p.Pro418Arg)single nucleotide variantPathogenicrs121909146GRCh37Chr 4, 2833309: 2833309
3SH3BP2NM_001122681.1(SH3BP2): c.1253C> A (p.Pro418His)single nucleotide variantPathogenicrs121909146GRCh37Chr 4, 2833309: 2833309
4SH3BP2NM_001122681.1(SH3BP2): c.1244G> C (p.Arg415Pro)single nucleotide variantPathogenicrs121909149GRCh37Chr 4, 2833300: 2833300
5SH3BP2NM_001122681.1(SH3BP2): c.1244G> A (p.Arg415Gln)single nucleotide variantPathogenicrs121909149GRCh37Chr 4, 2833300: 2833300
6SH3BP2NM_001122681.1(SH3BP2): c.1258G> C (p.Gly420Arg)single nucleotide variantPathogenicrs28938170GRCh37Chr 4, 2833314: 2833314
7SH3BP2NM_001122681.1(SH3BP2): c.1259G> A (p.Gly420Glu)single nucleotide variantPathogenicrs28938171GRCh37Chr 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 18)
idSuper pathwaysScoreTop Affiliating Genes
19.8FGFR3, SRC
29.8FGFR3, SRC
39.6PTPN11, SRC
49.6PTPN11, SRC
59.6PTPN11, SRC
69.6PTPN11, SRC
79.6PTPN11, SRC
89.6PTPN11, SRC
99.6PTPN11, SRC
109.6PTPN11, SRC
119.6PTPN11, SRC
129.5PTPN11, TNFSF11
139.3SRC, STRN
14
Show member pathways
9.2FGFR3, PTPN11, SRC
15
Show member pathways
9.2FGFR3, PTPN11, SRC
16
Show member pathways
9.2PTPN11, SRC, TNFSF11
17
Show member pathways
9.1PTPN11, SRC, TNKS
18
Show member pathways
8.8FGFR3, PTPN11, SRC, TNKS

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
1positive regulation of MAP kinase activityGO:004340610.1SRC, TNFSF11
2regulation of phosphatidylinositol 3-kinase signalingGO:001406610.0FGFR3, PTPN11
3platelet-derived growth factor receptor signaling pathwayGO:00480089.9PTPN11, SRC
4phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.9FGFR3, PTPN11
5integrin-mediated signaling pathwayGO:00072299.9PTPN11, SRC
6positive regulation of phosphatidylinositol 3-kinase activityGO:00435529.8FGFR3, SRC
7positive regulation of protein kinase B signalingGO:00518979.6SRC, TNFSF11
8T cell costimulationGO:00312959.6PTPN11, SRC
9epidermal growth factor receptor signaling pathwayGO:00071739.4FGFR3, PTPN11, SRC
10fibroblast growth factor receptor signaling pathwayGO:00085439.3FGFR3, PTPN11, SRC

Sources for Cherubism

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet