MCID: CHR003
MIFTS: 51

Cherubism

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

Aliases & Classifications for Cherubism

MalaCards integrated aliases for Cherubism:

Name: Cherubism 54 12 23 50 24 25 56 71 13 52 42 14 69
Crbm 50 56 71
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:

56
cherubism
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
onset 14 months to 4 years of age
progresses through puberty, then stabilizes
may regress in adulthood


HPO:

32
cherubism:
Onset and clinical course childhood onset
Inheritance autosomal dominant inheritance


GeneReviews:

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

Classifications:



Summaries for Cherubism

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 progressive visual loss, visual impairment and optic atrophy. An important gene associated with Cherubism is SH3BP2 (SH3 Domain Binding Protein 2), and among its related pathways/superpathways are PEDF Induced Signaling and RANK Signaling in Osteoclasts. Affiliated tissues include bone, testes and lymph node, and related phenotypes are behavior/neurological and cellular

NIH Rare Diseases : 50 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 : 71 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 : 72 Cherubism is a rare genetic disorder that causes prominence in the lower portion in the face. The name... more...

Description from OMIM: 118400
GeneReviews: NBK1137

Related Diseases for Cherubism

Graphical network of the top 20 diseases related to Cherubism:



Diseases related to Cherubism

Symptoms & Phenotypes for Cherubism

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Eyes:
decreased visual acuity
proptosis
upward displacement of the globes
lower eyelid retraction
orbital mass
more
Head And Neck- Face:
round face due to facial swelling
broad cheeks due to facial swelling
symmetric, hard, painless, swelling of the jaw region
maxillary enlargement
mandibular enlargement
more
Head And Neck- Teeth:
oligodontia
agenesis of teeth
displaced teeth

Skeletal- Skull:
loss of bone and replacement by fibrous tissue restricted to jaw
multilocular radiolucencies in the jaw bones
histology shows multiple osteoclast-like cells in a fibrous and cellular stroma


Clinical features from OMIM:

118400

Human phenotypes related to Cherubism:

56 32 (show all 22)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 progressive visual loss 56 32 occasional (7.5%) Occasional (29-5%) HP:0000529
2 visual impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000505
3 optic atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000648
4 broad jaw 56 32 hallmark (90%) Very frequent (99-80%) HP:0012802
5 proptosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000520
6 full cheeks 56 32 hallmark (90%) Very frequent (99-80%) HP:0000293
7 feeding difficulties in infancy 56 32 occasional (7.5%) Occasional (29-5%) HP:0008872
8 oligodontia 56 32 frequent (33%) Frequent (79-30%) HP:0000677
9 upper airway obstruction 56 32 occasional (7.5%) Occasional (29-5%) HP:0002781
10 obstructive sleep apnea 56 32 occasional (7.5%) Occasional (29-5%) HP:0002870
11 abnormality of the voice 56 32 occasional (7.5%) Occasional (29-5%) HP:0001608
12 abnormality of dental morphology 56 32 frequent (33%) Frequent (79-30%) HP:0006482
13 bone cyst 56 32 hallmark (90%) Very frequent (99-80%) HP:0012062
14 round face 32 HP:0000311
15 reduced visual acuity 32 HP:0007663
16 optic neuropathy 32 HP:0001138
17 constriction of peripheral visual field 32 HP:0001133
18 striae distensae 32 HP:0001065
19 abnormality of the teeth 56 Frequent (79-30%)
20 abnormality of the mandible 56 Very frequent (99-80%)
21 macular scar 32 HP:0200056
22 marcus gunn pupil 32 HP:0200057

MGI Mouse Phenotypes related to Cherubism:

44 (show all 13)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10 CSF1 FGFR3 SH3BP2 SRC TNFSF11 TNKS
2 cellular MP:0005384 9.99 CSF1 FGFR3 NFATC1 SH3BP2 SRC TNKS
3 integument MP:0010771 9.98 CSF1 FGFR3 NFATC1 SH3BP2 SRC TNFSF11
4 craniofacial MP:0005382 9.97 CSF1 FGFR3 NFATC1 SH3BP2 SRC TNFSF11
5 hematopoietic system MP:0005397 9.95 FGFR3 NFATC1 CSF1 SH3BP2 SRC TNFSF11
6 immune system MP:0005387 9.93 CSF1 FGFR3 NFATC1 SH3BP2 SRC TNFSF11
7 mortality/aging MP:0010768 9.91 CSF1 FGFR3 NFATC1 SH3BP2 SRC TNFSF11
8 limbs/digits/tail MP:0005371 9.88 CSF1 FGFR3 NFATC1 SH3BP2 SRC TNFSF11
9 muscle MP:0005369 9.72 CSF1 NFATC1 SH3BP2 TNFSF11 TNKS
10 no phenotypic analysis MP:0003012 9.65 CSF1 FGFR3 NFATC1 TNFSF11 TNKS
11 respiratory system MP:0005388 9.63 CSF1 FGFR3 NFATC1 SH3BP2 SRC TNFSF11
12 skeleton MP:0005390 9.43 FGFR3 NFATC1 SH3BP2 SRC TNFSF11 CSF1
13 vision/eye MP:0005391 9.02 CSF1 FGFR3 SH3BP2 SRC TNFSF11

Drugs & Therapeutics for Cherubism

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Natural History of Cherubism Observational Study Completed NCT01916772
2 Genetic and Functional Analysis of Cherubism Recruiting NCT01630447

Search NIH Clinical Center for Cherubism

Cochrane evidence based reviews: cherubism

Genetic Tests for Cherubism

Genetic tests related to Cherubism:

id Genetic test Affiliating Genes
1 Cherubism 24 SH3BP2

Anatomical Context for Cherubism

MalaCards organs/tissues related to Cherubism:

39
Bone, Testes, Lymph Node, B Cells, Bone Marrow, Ovary

Publications for Cherubism

Articles related to Cherubism:

(show top 50) (show all 254)
id Title Authors Year
1
Clinical and genetic analysis of patients with cherubism. ( 28644570 )
2017
2
Craniofacial and Dental Features in Six Children With Cherubism. ( 28857986 )
2017
3
Nonfamilial cherubism: A case report and review of literature. ( 28479714 )
2017
4
Cherubism mice also deficient in c-Fos exhibit inflammatory bone destruction executed by macrophages that express MMP14 despite the absence of TRAP+ osteoclasts. ( 28914985 )
2017
5
Clinicopathologic and Molecular Characteristics of Familial Cherubism with Associated Odontogenic Tumorous Proliferations. ( 28721660 )
2017
6
Cherubism: An Unusual Study With Long-Term Follow-Up. ( 27315317 )
2016
7
Defining a new aggressiveness classification and using NFATc1 localization as a prognostic factor in cherubism. ( 27498064 )
2016
8
Cherubism: A Case Report with Surgical Intervention. ( 27272835 )
2016
9
Non-Familial Cherubism with Bilateral Maxilla and Mandible Involvement - Clinicoradiographic Findings. ( 27588230 )
2016
10
Cherubism. A case report. ( 27427211 )
2016
11
Case Report of Nonfamilial Cherubism in a Toddler: Description of Clinic-Radiographic Features and Osseous-Dental Treatments. ( 28105052 )
2016
12
Early Presentation of Cherubism. ( 27567661 )
2016
13
Painless bilateral swelling of the face: think about cherubism. ( 26245886 )
2015
14
Cherubism misdiagnosed as giant cell tumor: a case report and review of literature. ( 26064398 )
2015
15
Cherubism in sub-saharan Africa: a first case-report in a child. ( 25918610 )
2015
16
Oral and Maxillofacial Pathology. Case of Month. Cherubism. ( 26237934 )
2015
17
A case of cherubism with spondyloarthropathy. ( 25960037 )
2015
18
Fibrous dysplasia and cherubism. ( 26933277 )
2015
19
Cherubism Study Results May Apply to Common Inflammatory Bone Diseases. ( 26473261 )
2015
20
Ophthalmic manifestations of cherubism. ( 25727591 )
2015
21
Late Reactivation of Cherubism in a Patient With New-Onset Polycystic Ovary Syndrome. ( 25957872 )
2015
22
Bone marrow transplantation improves autoinflammation and inflammatory bone loss in SH3BP2 knock-in cherubism mice. ( 25445458 )
2015
23
Cherubism allele heterozygosity amplifies microbe-induced inflammatory responses in murine macrophages. ( 25705883 )
2015
24
Cherubism: a case report. ( 25861190 )
2015
25
Cherubism. ( 25606831 )
2015
26
The calcineurin inhibitor tacrolimus as a new therapy in severe cherubism. ( 25491283 )
2015
27
Recurrent cherubism in an adult patient. ( 25933153 )
2015
28
Etanercept administration to neonatal SH3BP2 knock-in cherubism mice prevents TNF-I+-induced inflammation and bone loss. ( 24978678 )
2014
29
Non-hereditary cherubism. ( 24959043 )
2014
30
Cherubism with multiple dental abnormalities: a rare presentation. ( 25301429 )
2014
31
Cherubism: A rare case report. ( 25097445 )
2014
32
A possible case of cherubism in a 17th-century Korean mummy. ( 25093864 )
2014
33
Non-familial cherubism: clinical and radiological findings. ( 24695657 )
2014
34
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
35
Odontogenic Myxoma of the Face: Mimicry of Cherubism. ( 25200927 )
2014
36
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
37
Orthodontic treatment in cherubism: an overview and a case report. ( 25549525 )
2014
38
SH3BP2 Cherubism Mutation Potentiates TNF-I+-Induced Osteoclastogenesis Via NFATc1 and TNF-I+-Mediated Inflammatory Bone Loss. ( 24916406 )
2014
39
Cherubism: a case report of a three-generation inheritance and literature review. ( 24280174 )
2014
40
Familial case of cherubism from South India: differential diagnosis and report of 2 cases. ( 25548687 )
2014
41
Clinicoradiologic features of cherubism: a case report and literature review. ( 25184726 )
2014
42
Maxillo-facial radiology case 120. Cherubism. ( 24984391 )
2014
43
Postpubertal cherubism with Noonan syndrome. ( 24718001 )
2014
44
Cherubism: Report of Three Cases and Literature Review. ( 25264591 )
2014
45
Enhanced TLR-MYD88 signaling stimulates autoinflammation in SH3BP2 cherubism mice and defines the etiology of cherubism. ( 25220465 )
2014
46
Cherubism: a case report. ( 25178340 )
2014
47
Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life. ( 23298620 )
2013
48
Anti-tumor necrosis factor treatment in cherubism--clinical, radiological and histological findings in two children. ( 23069372 )
2013
49
Cherubism: panoramic and CT features in adults. ( 24048692 )
2013
50
Cherubism. ( 23833006 )
2013

Variations for Cherubism

UniProtKB/Swiss-Prot genetic disease variations for Cherubism:

71
id Symbol AA change Variation ID SNP ID
1 SH3BP2 p.Arg415Pro VAR_013257 rs121909149
2 SH3BP2 p.Arg415Gln VAR_013258 rs121909149
3 SH3BP2 p.Pro418His VAR_013259 rs121909146
4 SH3BP2 p.Pro418Leu VAR_013260 rs121909146
5 SH3BP2 p.Pro418Arg VAR_013261 rs121909146
6 SH3BP2 p.Gly420Glu VAR_013262 rs28938171
7 SH3BP2 p.Gly420Arg VAR_013263 rs28938170

ClinVar genetic disease variations for Cherubism:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SH3BP2 NM_001122681.1(SH3BP2): c.1253C> T (p.Pro418Leu) single nucleotide variant Pathogenic rs121909146 GRCh37 Chromosome 4, 2833309: 2833309
2 SH3BP2 NM_003023.4(SH3BP2): c.1253C> G (p.Pro418Arg) single nucleotide variant Pathogenic rs121909146 GRCh37 Chromosome 4, 2833309: 2833309
3 SH3BP2 NM_001122681.1(SH3BP2): c.1253C> A (p.Pro418His) single nucleotide variant Pathogenic rs121909146 GRCh37 Chromosome 4, 2833309: 2833309
4 SH3BP2 NM_001122681.1(SH3BP2): c.1244G> C (p.Arg415Pro) single nucleotide variant Pathogenic rs121909149 GRCh37 Chromosome 4, 2833300: 2833300
5 SH3BP2 NM_001122681.1(SH3BP2): c.1244G> A (p.Arg415Gln) single nucleotide variant Pathogenic rs121909149 GRCh37 Chromosome 4, 2833300: 2833300
6 SH3BP2 NM_001122681.1(SH3BP2): c.1258G> C (p.Gly420Arg) single nucleotide variant Pathogenic rs28938170 GRCh37 Chromosome 4, 2833314: 2833314
7 SH3BP2 NM_001122681.1(SH3BP2): c.1259G> A (p.Gly420Glu) single nucleotide variant Pathogenic rs28938171 GRCh37 Chromosome 4, 2833315: 2833315

Expression for Cherubism

Search GEO for disease gene expression data for Cherubism.

Pathways for Cherubism

GO Terms for Cherubism

Cellular components related to Cherubism according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 nuclear body GO:0016604 8.8 BABAM1 NFATC1 TNKS

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

id Name GO ID Score Top Affiliating Genes
1 positive regulation of MAP kinase activity GO:0043406 9.43 SRC TNFSF11
2 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.4 FGFR3 SRC
3 osteoclast differentiation GO:0030316 9.37 CSF1 TNFSF11
4 bone resorption GO:0045453 9.32 SRC TNFSF11
5 positive regulation of osteoclast differentiation GO:0045672 9.26 CSF1 TNFSF11
6 branching involved in mammary gland duct morphogenesis GO:0060444 9.16 CSF1 SRC
7 positive regulation of intracellular signal transduction GO:1902533 8.96 SRC TNFSF11
8 osteoclast proliferation GO:0002158 8.62 CSF1 TNFSF11

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

id Name GO ID Score Top Affiliating Genes
1 SH3/SH2 adaptor activity GO:0005070 8.62 SH3BP2 SRC

Sources for Cherubism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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