MCID: CHR003
MIFTS: 50

Cherubism 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, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Cherubism:

Name: Cherubism 51 11 23 47 24 25 53 69 12 49 38 13 67
Crbm 47 53 69
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:

53
cherubism:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Childhood; Age of death: normal life expectancy

HPO:

63
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:

OMIM51 118400
Disease Ontology11 DOID:1856
ICD1029 M27.8
MeSH38 D002636
NCIt44 C84630
SNOMED-CT61 53432004, 76098004
Orphanet53 ORPHA184
UMLS via Orphanet68 C0008029
MESH via Orphanet39 D002636
ICD10 via Orphanet30 K10.8
MedGen36 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 al gazali khidr prem chandran 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:47 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:69 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:70 Cherubism is a rare genetic disorder that causes prominence in the lower portion in the face. The name... more...

Description from OMIM:51 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 for Cherubism

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Symptoms by clinical synopsis from OMIM:

118400

Clinical features from OMIM:

118400

Human phenotypes related to Cherubism:

 63 53 (show all 25)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the mandible63 53 hallmark (90%) Very frequent (99-80%) HP:0000277
2 neoplasm of the skeletal system63 hallmark (90%) HP:0010622
3 abnormality of dental morphology63 53 typical (50%) Frequent (79-30%) HP:0006482
4 reduced number of teeth63 typical (50%) HP:0009804
5 visual impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0000505
6 proptosis63 53 occasional (7.5%) Occasional (29-5%) HP:0000520
7 optic atrophy63 53 occasional (7.5%) Occasional (29-5%) HP:0000648
8 abnormality of the voice63 53 occasional (7.5%) Occasional (29-5%) HP:0001608
9 apnea63 occasional (7.5%) HP:0002104
10 feeding difficulties in infancy63 53 occasional (7.5%) Occasional (29-5%) HP:0008872
11 round face63 HP:0000311
12 oligodontia63 53 Frequent (79-30%) HP:0000677
13 striae distensae63 HP:0001065
14 constriction of peripheral visual field63 HP:0001133
15 optic neuropathy63 HP:0001138
16 reduced visual acuity63 HP:0007663
17 macular scarring63 HP:0200056
18 marcus gunn pupil63 HP:0200057
19 abnormality of the teeth53 Frequent (79-30%)
20 full cheeks53 Very frequent (99-80%)
21 progressive visual loss53 Occasional (29-5%)
22 upper airway obstruction53 Occasional (29-5%)
23 obstructive sleep apnea53 Occasional (29-5%)
24 bone cyst53 Very frequent (99-80%)
25 broad jaw53 Very frequent (99-80%)

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:

35
Bone, B cells, Testes, Ovary, Bone marrow

Animal Models for Cherubism or affiliated genes

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MGI Mouse Phenotypes related to Cherubism:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.1FGFR3, PTPN11, SH3BP2, SRC, TNFSF11
2MP:00053719.1FGFR3, PTPN11, SH3BP2, SRC, TNFSF11
3MP:00053889.0FGFR3, PTPN11, SH3BP2, SRC, TNFSF11
4MP:00053909.0FGFR3, PTPN11, SH3BP2, SRC, TNFSF11
5MP:00107718.5FGFR3, PTPN11, SH3BP2, SRC, TNFSF11, TNKS
6MP:00053918.3FGFR3, PTPN11, SH3BP2, SRC, TNFSF11

Publications for Cherubism

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Articles related to Cherubism:

(show top 50)    (show all 250)
idTitleAuthorsYear
1
Early Presentation of Cherubism. (27567661)
2016
2
Cherubism in sub-saharan Africa: a first case-report in a child. (25918610)
2015
3
Bone marrow transplantation improves autoinflammation and inflammatory bone loss in SH3BP2 knock-in cherubism mice. (25445458)
2015
4
Cherubism misdiagnosed as giant cell tumor: a case report and review of literature. (26064398)
2015
5
Painless bilateral swelling of the face: think about cherubism. (26245886)
2015
6
Recurrent cherubism in an adult patient. (25933153)
2015
7
Cherubism allele heterozygosity amplifies microbe-induced inflammatory responses in murine macrophages. (25705883)
2015
8
Cherubism: A rare case report. (25097445)
2014
9
Cherubism: a case report of a three-generation inheritance and literature review. (24280174)
2014
10
Maxillo-facial radiology case 120. Cherubism. (24984391)
2014
11
Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life. (23298620)
2013
12
Mutations of the SH3BP2 gene in 2 families of cherubism. (22795151)
2012
13
Aggressive form of cherubism. (22439132)
2012
14
Diagnostic discussion. Cherubism. (22662494)
2012
15
Enhancement of B-cell receptor signaling by a point mutation of adaptor protein 3BP2 identified in human inherited disease cherubism. (21794028)
2011
16
Management of a patient suffering with Cherubism with dental implants. (21780729)
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
A cherubism with aneurysmal bone cyst. (19386735)
2009
20
Diagnosis and treatment of familial cherubism characterized by early onset and rapid development. (19165006)
2009
21
A novel mutation of the SH3BP2 gene in an aggressive case of cherubism. (17368082)
2008
22
Cherubism in siblings: A case report. (17456964)
2007
23
Jawing about TNF: new hope for cherubism. (17218248)
2007
24
SH3BP2 is rarely mutated in exon 9 in giant cell lesions outside cherubism. (17545756)
2007
25
Testing your diagnostic skills. Case no. 2: cherubism. (16602153)
2006
26
Clinicopathologic study of 24 cases of cherubism. (16053841)
2005
27
Oral diagnosis. Symmetrical enlargement of the maxilla and mandible. Cherubism. (15206263)
2004
28
Cherubism: clinical evidence and therapy. (12621291)
2003
29
An extreme case of cherubism. (11883969)
2002
30
Cherubism. (23119899)
2002
31
Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. (11381256)
2001
32
Cherubism and its charlatans. (11728115)
2001
33
Cherubism: clinicopathologic features. (10450884)
1999
34
Cherubism: a radiological and clinical presentation. (9763913)
1998
35
Imaging quiz case 2. Cherubism. (9006516)
1997
36
Cherubism: presentation of a case. (9188969)
1997
37
Pathologic quiz case 2. Cherubism. (8859129)
1996
38
Cherubism. (1583713)
1992
39
Cherubism. (3397668)
1988
40
The computed tomographic appearances of cherubism. (3823963)
1987
41
An unusually extensive case of cherubism. (3457129)
1986
42
Cherubism--a case report. (3759886)
1986
43
Cherubism: report of a nonfamilial case. (3862707)
1985
44
Hereditary fibrous dysplasia of the jaws (cherubism): report of case. (6578225)
1983
45
Cherubism: a study of twenty cases from one family. (285398)
1979
46
Cherubism. The hereditary form of fibrous dysplasia localized to the jaws. (5150866)
1971
47
Cherubism: an analysis of treatment. (5778235)
1969
48
Cherubism--hereditary fibrous dysplasia of the jaws. Roentgenographic features. (5769295)
1969
49
Cherubism: report of three cases. (13680915)
1961
50
Familial intraosseous fibrous swellings of the jaws (cherubism). (13087995)
1953

Variations for Cherubism

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UniProtKB/Swiss-Prot genetic disease variations for Cherubism:

69
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_001122681.1(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 18)
idSuper pathwaysScoreTop Affiliating Genes
19.7FGFR3, SRC
29.7FGFR3, SRC
39.5SRC, STRN
49.4PTPN11, SRC
59.4PTPN11, SRC
69.4PTPN11, SRC
79.4PTPN11, SRC
89.4PTPN11, SRC
99.4PTPN11, SRC
109.4PTPN11, SRC
119.4PTPN11, SRC
12
Show member pathways
9.4PTPN11, TNFSF11
13
Show member pathways
9.1FGFR3, PTPN11, SRC
14
Show member pathways
9.1FGFR3, PTPN11, SRC
15
Show member pathways
9.1FGFR3, PTPN11, SRC
16
Show member pathways
9.0PTPN11, SRC, TNFSF11
17
Show member pathways
8.5FGFR3, PTPN11, SRC, TNKS
18
Show member pathways
8.5FGFR3, PTPN11, SRC, STRN

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 intracellular signal transductionGO:190253310.1SRC, TNFSF11
2positive regulation of phosphatidylinositol 3-kinase activityGO:004355210.1FGFR3, SRC
3phosphatidylinositol-3-phosphate biosynthetic processGO:003609210.0FGFR3, PTPN11
4positive regulation of signal transductionGO:00099679.8PTPN11, SH3BP2
5platelet-derived growth factor receptor signaling pathwayGO:00480089.7PTPN11, SRC
6bone resorptionGO:00454539.7SRC, TNFSF11
7neurotrophin TRK receptor signaling pathwayGO:00480119.7PTPN11, SRC
8positive regulation of MAP kinase activityGO:00434069.5SRC, TNFSF11
9epidermal growth factor receptor signaling pathwayGO:00071739.4PTPN11, SRC
10positive regulation of ERK1 and ERK2 cascadeGO:00703749.1FGFR3, PTPN11, SRC

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

idNameGO IDScoreTop Affiliating Genes
11-phosphatidylinositol-3-kinase activityGO:00163039.9FGFR3, PTPN11
2phosphatidylinositol-4,5-bisphosphate 3-kinase activityGO:00469349.8FGFR3, PTPN11
3estrogen receptor bindingGO:00303319.7SRC, STRN
4cell adhesion molecule bindingGO:00508399.7PTPN11, SRC
5insulin receptor bindingGO:00051589.4PTPN11, SRC
6SH3/SH2 adaptor activityGO:00050709.4PTPN11, SH3BP2, SRC

Sources for Cherubism

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet