MCID: CHR003
MIFTS: 51

Cherubism malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral diseases, Cancer diseases categories

Aliases & Classifications for Cherubism

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

Aliases & Descriptions for Cherubism:

Name: Cherubism 49 10 11 21 45 22 23 47 12 51 65 36 67
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


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

OMIM49 118400
Disease Ontology10 DOID:1856
NCIt42 C84630
MeSH36 D002636
Orphanet51 184
SNOMED-CT59 76098004, 53432004
ICD10 via Orphanet28 K10.8
MESH via Orphanet37 D002636
UMLS via Orphanet66 C0008029
MedGen34 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 fibrous dysplasia and ramon syndrome, and has symptoms including abnormality of the mandible, neoplasm of the skeletal system and abnormality of dental morphology. An important gene associated with Cherubism is SH3BP2 (SH3-Domain Binding Protein 2), and among its related pathways are Alzheimers Disease Pathway and Bladder cancer. Affiliated tissues include bone, b cells and testes, and related mouse phenotypes are craniofacial and limbs/digits/tail.

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 cherubism

Related Diseases for Cherubism

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Diseases related to Cherubism via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 97)
idRelated DiseaseScoreTop Affiliating Genes
1fibrous dysplasia10.5
2ramon syndrome10.3
3gingivitis10.2
4fibromatosis10.2
5neurofibromatosis10.2
6giant cell tumor10.2
7mucopolysaccharidosis is10.1
8aneurysmal bone cysts10.1
9mucopolysaccharidosis iva10.1
10neurofibromatosis, type 110.1
11mccune-albright syndrome, somatic, mosaic10.1
12ectodermal dysplasia10.1
13mucopolysaccharidosis iv10.1
14giant cell reparative granuloma10.1
15osteitis fibrosa10.1
16secondary syphilis10.1
17bone development disease10.1
18bone structure disease10.1
19osteochondrodysplasia10.1
20osteofibrous dysplasia10.1
21skeletal dysplasias10.1
22skeletal dysplasia10.1
23aneurysm10.1
24rheumatoid arthritis9.9
25schwartz-jampel syndrome, type 19.9
26megalencephaly-capillary malformation-polymicrogyria syndrome, somatic9.9
27sandhoff disease, infantile, juvenile, and adult forms9.9
28diastrophic dysplasia9.9
29cardiofaciocutaneous syndrome9.9
30otofaciocervical syndrome9.9
31costello syndrome9.9
32catel-manzke syndrome9.9
33meckel syndrome 19.9
34bohring-opitz syndrome9.9
35phelan-mcdermid syndrome9.9
36menkes disease9.9
37melnick-needles syndrome9.9
38fragile x syndrome9.9
39arthritis9.9
40congestive heart failure9.9
41craniosynostosis9.9
42polycystic ovary syndrome9.9
43skin disease9.9
44oculocerebrorenal syndrome9.9
45acromegaly9.9
46fibroma9.9
47cold-induced sweating syndrome9.9
48obstructive sleep apnea9.9
49myositis ossificans9.9
50juvenile rheumatoid arthritis9.9

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 22)
id Description Frequency HPO Source Accession
1 abnormality of the mandible hallmark (90%) HP:0000277
2 neoplasm of the skeletal system hallmark (90%) HP:0010622
3 abnormality of dental morphology typical (50%) HP:0006482
4 reduced number of teeth typical (50%) HP:0009804
5 visual impairment occasional (7.5%) HP:0000505
6 proptosis occasional (7.5%) HP:0000520
7 optic atrophy occasional (7.5%) HP:0000648
8 abnormality of the voice occasional (7.5%) HP:0001608
9 apnea occasional (7.5%) HP:0002104
10 feeding difficulties in infancy occasional (7.5%) HP:0008872
11 autosomal dominant inheritance HP:0000006
12 round face HP:0000311
13 visual impairment HP:0000505
14 proptosis HP:0000520
15 oligodontia HP:0000677
16 striae distensae HP:0001065
17 constriction of peripheral visual field HP:0001133
18 optic neuropathy HP:0001138
19 reduced visual acuity HP:0007663
20 childhood onset HP:0011463
21 macular scarring HP:0200056
22 marcus gunn pupil HP:0200057

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, B cells, Testes, Ovary, Bone marrow

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:00053718.6FAT4, FGFR3, PTPN11, SRC, TNFSF11
3MP:00030128.5FAT4, FGFR3, PTPN11, TNFSF11, TNKS
4MP:00053908.3FAT4, FGFR3, PTPN11, SH3BP2, SRC, TNFSF11
5MP:00053888.2FAT4, FGFR3, PTPN11, SH3BP2, SRC
6MP:00107718.0FGFR3, PTPN11, SH3BP2, SRC, TNFSF11, TNKS
7MP:00053848.0FAT4, FGFR3, PTPN11, SH3BP2, SRC, TNKS
8MP:00107687.4FAT4, FGFR3, PTPN11, SH3BP2, SRC, TNFSF11

Publications for Cherubism

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Articles related to Cherubism:

(show top 50)    (show all 239)
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 with multiple dental abnormalities: a rare presentation. (25301429)
2014
6
Non-hereditary cherubism. (24959043)
2014
7
Cherubism: A rare case report. (25097445)
2014
8
Enhanced TLR-MYD88 signaling stimulates autoinflammation in SH3BP2 cherubism mice and defines the etiology of cherubism. (25220465)
2014
9
Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life. (23298620)
2013
10
Mutations of the SH3BP2 gene in 2 families of cherubism. (22795151)
2012
11
The surgical and orthodontic management of cherubism in a growing child. (21676623)
2012
12
Clinical and radiological features of nonfamilial cherubism: A case report. (23049582)
2012
13
Loss of Tankyrase-mediated destruction of 3BP2 is the underlying pathogenic mechanism of cherubism. (22153076)
2011
14
SH3BP2-encoding exons involved in cherubism are not associated with central giant cell granuloma. (21680150)
2011
15
Enhancement of B-cell receptor signaling by a point mutation of adaptor protein 3BP2 identified in human inherited disease cherubism. (21794028)
2011
16
Treatment of cherubism with salmon calcitonin: a case report. (21912506)
2011
17
Cherubism: clinicoradiographic features and treatment. (24421967)
2010
18
Pro416Arg cherubism mutation in Sh3bp2 knock-in mice affects osteoblasts and alters bone mineral and matrix properties. (20117257)
2010
19
Oral and maxillofacial pathology. Case of the month: cherubism. (19388439)
2009
20
A cherubism with aneurysmal bone cyst. (19386735)
2009
21
Fine-needle aspiration cytological features of Cherubism. (18232001)
2008
22
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
23
A new mutation in the SH3BP2 gene showing reduced penetrance in a family affected with cherubism. (17321449)
2007
24
Cherubism in siblings: A case report. (17456964)
2007
25
Jawing about TNF: new hope for cherubism. (17218248)
2007
26
Clinicopathologic study of 24 cases of cherubism. (16053841)
2005
27
Cherubism: clinical evidence and therapy. (12621291)
2003
28
An extreme case of cherubism. (11883969)
2002
29
Cherubism. (23119899)
2002
30
Cherubism--clinical picture and treatment. (11355438)
2001
31
Orbital involvement in cherubism. (11272784)
2001
32
Aggressive form of cherubism: report of a case. (10716121)
2000
33
Cherubism: a 36-year long-term follow-up of 2 generations in different families and review of the literature. (11113824)
2000
34
Familial craniofacial fibrous dysplasia: absence of linkage to GNAS1 and the gene for cherubism. (11073546)
2000
35
Cherubism: clinicopathologic features. (10450884)
1999
36
Cherubism: a study of three generations. (11507493)
1998
37
Cherubism: a radiological and clinical presentation. (9763913)
1998
38
Imaging quiz case 2. Cherubism. (9006516)
1997
39
Cherubism: diagnosis, treatment, and comparison with central giant cell granulomas and giant cell tumors. (1545971)
1992
40
The computed tomographic appearances of cherubism. (3823963)
1987
41
Cherubism: two case reports and a review of the literature. (3466413)
1986
42
An unusually extensive case of cherubism. (3457129)
1986
43
Cherubism--a case report. (3759886)
1986
44
Cherubism, gingival fibromatosis, epilepsy, and mental deficiency (Ramon syndrome) with juvenile rheumatoid arthritis. (3789007)
1986
45
Cherubism: report of a nonfamilial case. (3862707)
1985
46
Surgical and pathological considerations in cherubism. (6807908)
1981
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 15)
idSuper pathways (with members indented)ScoreTop 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
10
Show member pathways
9.6PTPN11, TNFSF11
11
Show member pathways
9.3FGFR3, PTPN11, SRC
12
Show member pathways
9.3FGFR3, PTPN11, SRC
139.3SRC, STRN
14
Show member pathways
9.2PTPN11, SRC, TNFSF11
15
Show member pathways
9.1PTPN11, 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 7)
idNameGO IDScoreTop Affiliating Genes
1bone resorptionGO:004545310.0SRC, TNFSF11
2positive regulation of signal transductionGO:00099679.6PTPN11, SH3BP2
3positive regulation of canonical Wnt signaling pathwayGO:00902639.5FGFR3, SRC, TNKS
4positive regulation of ERK1 and ERK2 cascadeGO:00703749.4FGFR3, PTPN11, SRC
5inner ear developmentGO:00488399.4FGFR3, PTPN11
6fibroblast growth factor receptor signaling pathwayGO:00085439.3FGFR3, PTPN11, SRC
7epidermal growth factor receptor signaling pathwayGO:00071739.3FGFR3, PTPN11, SRC

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

idNameGO IDScoreTop Affiliating Genes
1SH3/SH2 adaptor activityGO:00050709.3PTPN11, SH3BP2, 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