MCID: CHR003
MIFTS: 57

Cherubism

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

Aliases & Classifications for Cherubism

MalaCards integrated aliases for Cherubism:

Name: Cherubism 53 12 72 23 49 24 55 71 36 13 51 41 14 69
Crbm 53 49 55 71
Familial Multilocular Cystic Disease of the Jaws 24
Familial Benign Giant-Cell Tumor of the Jaw 24
Familial Fibrous Dysplasia of Jaw 24

Characteristics:

Orphanet epidemiological data:

55
cherubism
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant

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


HPO:

31
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:



External Ids:

OMIM 53 118400
Disease Ontology 12 DOID:1856
ICD10 32 M27.8
MeSH 41 D002636
NCIt 46 C84630
SNOMED-CT 64 53432004 76098004
Orphanet 55 ORPHA184
MESH via Orphanet 42 D002636
UMLS via Orphanet 70 C0008029
ICD10 via Orphanet 33 K10.8
MedGen 39 C0008029
KEGG 36 H00497
UMLS 69 C0008029

Summaries for Cherubism

Genetics Home Reference : 24 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 noonan syndrome 1 and ramon syndrome, and has symptoms including visual impairment, optic atrophy and feeding difficulties in infancy. An important gene associated with Cherubism is SH3BP2 (SH3 Domain Binding Protein 2), and among its related pathways/superpathways are Cytokine Signaling in Immune system and PAK Pathway. Affiliated tissues include bone, testes and lymph node, and related phenotypes are growth/size/body region and behavior/neurological

NIH Rare Diseases : 49 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

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

(show all 48)
# Related Disease Score Top Affiliating Genes
1 noonan syndrome 1 29.8 PTPN11 SH3BP2 SRC
2 ramon syndrome 11.6
3 al gazali khidr prem chandran syndrome 11.3
4 noonan-like/multiple giant cell lesion syndrome 11.0
5 fibrous dysplasia 10.2
6 villonodular synovitis 10.1 PTPN11 TNFSF11
7 gingival fibromatosis 10.0
8 gingivitis 10.0
9 fibromatosis 10.0
10 pseudo-turner syndrome 10.0
11 bone resorption disease 10.0 NFATC1 TNFSF11
12 neurofibromatosis, type iv, of riccardi 9.9
13 giant cell reparative granuloma 9.9
14 giant cell tumor 9.9
15 bone remodeling disease 9.9 NFATC1 TNFSF11
16 multicentric reticulohistiocytosis 9.9 CSF1 TNFSF11
17 mandibular cancer 9.9 CSF1 TNFSF11
18 jaw cancer 9.9 CSF1 TNFSF11
19 aneurysmal bone cysts 9.9
20 epilepsy 9.9
21 aneurysm 9.9
22 adamantinoma of long bones 9.8 CSF1 TNFSF11
23 joint disorders 9.8 CSF1 TNFSF11
24 endosteal hyperostosis, autosomal dominant 9.8 CSF1 TNFSF11
25 apnea, obstructive sleep 9.7
26 blood group, i system 9.7
27 treacher collins syndrome 1 9.7
28 myositis 9.7
29 rheumatoid arthritis 9.7
30 fragile x syndrome 9.7
31 cohen-gibson syndrome 9.7
32 arthritis 9.7
33 craniosynostosis 9.7
34 ectodermal dysplasia 9.7
35 polycystic ovary syndrome 9.7
36 sleep apnea 9.7
37 spondyloarthropathy 9.7
38 hyperparathyroidism 9.7
39 sleep disorder 9.7
40 myositis ossificans 9.7
41 juvenile rheumatoid arthritis 9.7
42 neuropathy 9.7
43 chorioretinitis 9.7
44 odontogenic myxoma 9.7
45 osteopetrosis 9.6 CSF1 SRC TNFSF11
46 pigmented villonodular synovitis 9.5 CSF1 PTPN11 TNFSF11
47 langerhans cell histiocytosis 9.5 CSF1 TNFSF11
48 leukemia, acute myeloid 9.4 CSF1 PTPN11 SRC

Graphical network of the top 20 diseases related to Cherubism:



Diseases related to Cherubism

Symptoms & Phenotypes for Cherubism

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
proptosis
macular scarring
optic neuropathy
upward displacement of the globes
lower eyelid retraction
more
Head And Neck Face:
mandibular enlargement
round face due to facial swelling
broad cheeks due to facial swelling
symmetric, hard, painless, swelling of the jaw region
maxillary 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:

55 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000505
2 optic atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000648
3 feeding difficulties in infancy 55 31 occasional (7.5%) Occasional (29-5%) HP:0008872
4 full cheeks 55 31 hallmark (90%) Very frequent (99-80%) HP:0000293
5 progressive visual loss 55 31 occasional (7.5%) Occasional (29-5%) HP:0000529
6 abnormality of the voice 55 31 occasional (7.5%) Occasional (29-5%) HP:0001608
7 abnormality of dental morphology 55 31 frequent (33%) Frequent (79-30%) HP:0006482
8 obstructive sleep apnea 55 31 occasional (7.5%) Occasional (29-5%) HP:0002870
9 proptosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000520
10 bone cyst 55 31 hallmark (90%) Very frequent (99-80%) HP:0012062
11 broad jaw 55 31 hallmark (90%) Very frequent (99-80%) HP:0012802
12 upper airway obstruction 55 31 occasional (7.5%) Occasional (29-5%) HP:0002781
13 oligodontia 55 31 frequent (33%) Frequent (79-30%) HP:0000677
14 abnormality of the dentition 55 Frequent (79-30%)
15 reduced visual acuity 31 HP:0007663
16 striae distensae 31 HP:0001065
17 round face 31 HP:0000311
18 abnormality of the mandible 55 Very frequent (99-80%)
19 optic neuropathy 31 HP:0001138
20 lower eyelid retraction 31 HP:0030802
21 constriction of peripheral visual field 31 HP:0001133
22 macular scar 31 HP:0200056
23 marcus gunn pupil 31 HP:0200057

MGI Mouse Phenotypes related to Cherubism:

43 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.1 SH3BP2 SRC TNFSF11 TNKS CSF1 FGFR3
2 behavior/neurological MP:0005386 10.08 CSF1 FGFR3 PTPN11 SH3BP2 SRC TNFSF11
3 cellular MP:0005384 10.07 CSF1 FGFR3 NFATC1 PTPN11 SH3BP2 SRC
4 craniofacial MP:0005382 10.05 CSF1 FGFR3 NFATC1 PTPN11 SH3BP2 SRC
5 integument MP:0010771 10.03 CSF1 FGFR3 NFATC1 PTPN11 SH3BP2 SRC
6 hematopoietic system MP:0005397 10.02 FGFR3 NFATC1 PTPN11 SH3BP2 SRC TNFSF11
7 immune system MP:0005387 10 CSF1 FGFR3 NFATC1 PTPN11 SH3BP2 SRC
8 mortality/aging MP:0010768 9.97 CSF1 FGFR3 NFATC1 PTPN11 SH3BP2 SRC
9 limbs/digits/tail MP:0005371 9.95 CSF1 FGFR3 NFATC1 PTPN11 SH3BP2 SRC
10 muscle MP:0005369 9.8 CSF1 NFATC1 PTPN11 SH3BP2 TNFSF11 TNKS
11 no phenotypic analysis MP:0003012 9.73 CSF1 FGFR3 NFATC1 PTPN11 TNFSF11 TNKS
12 respiratory system MP:0005388 9.7 NFATC1 PTPN11 SH3BP2 SRC TNFSF11 CSF1
13 skeleton MP:0005390 9.5 CSF1 FGFR3 NFATC1 PTPN11 SH3BP2 SRC
14 vision/eye MP:0005391 9.1 CSF1 FGFR3 PTPN11 SH3BP2 SRC TNFSF11

Drugs & Therapeutics for Cherubism

Interventional clinical trials:


# 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

Anatomical Context for Cherubism

MalaCards organs/tissues related to Cherubism:

38
Bone, Testes, Lymph Node, Ovary, Bone Marrow, B Cells

Publications for Cherubism

Articles related to Cherubism:

(show top 50) (show all 255)
# Title Authors Year
1
Clinicopathologic and Molecular Characteristics of Familial Cherubism with Associated Odontogenic Tumorous Proliferations. ( 28721660 )
2017
2
Clinical and genetic analysis of patients with cherubism. ( 28644570 )
2017
3
Craniofacial and Dental Features in Six Children With Cherubism. ( 28857986 )
2017
4
Nonfamilial cherubism: A case report and review of literature. ( 28479714 )
2017
5
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
6
Cherubism: An Unusual Study With Long-Term Follow-Up. ( 27315317 )
2016
7
Non-Familial Cherubism with Bilateral Maxilla and Mandible Involvement - Clinicoradiographic Findings. ( 27588230 )
2016
8
Early Presentation of Cherubism. ( 27567661 )
2016
9
Cherubism. A case report. ( 27427211 )
2016
10
Case Report of Nonfamilial Cherubism in a Toddler: Description of Clinic-Radiographic Features and Osseous-Dental Treatments. ( 28105052 )
2016
11
Cherubism: A Case Report with Surgical Intervention. ( 27272835 )
2016
12
Defining a new aggressiveness classification and using NFATc1 localization as a prognostic factor in cherubism. ( 27498064 )
2016
13
Late Reactivation of Cherubism in a Patient With New-Onset Polycystic Ovary Syndrome. ( 25957872 )
2015
14
Fibrous dysplasia and cherubism. ( 26933277 )
2015
15
A case of cherubism with spondyloarthropathy. ( 25960037 )
2015
16
Cherubism allele heterozygosity amplifies microbe-induced inflammatory responses in murine macrophages. ( 25705883 )
2015
17
Cherubism misdiagnosed as giant cell tumor: a case report and review of literature. ( 26064398 )
2015
18
Cherubism With Bilateral Mandible and Maxilla Involvement: A Case Report. ( 26656340 )
2015
19
Recurrent cherubism in an adult patient. ( 25933153 )
2015
20
Cherubism: a case report. ( 25861190 )
2015
21
Oral and Maxillofacial Pathology. Case of Month. Cherubism. ( 26237934 )
2015
22
Ophthalmic manifestations of cherubism. ( 25727591 )
2015
23
Cherubism in sub-saharan Africa: a first case-report in a child. ( 25918610 )
2015
24
Painless bilateral swelling of the face: think about cherubism. ( 26245886 )
2015
25
The calcineurin inhibitor tacrolimus as a new therapy in severe cherubism. ( 25491283 )
2015
26
Bone marrow transplantation improves autoinflammation and inflammatory bone loss in SH3BP2 knock-in cherubism mice. ( 25445458 )
2015
27
Cherubism. ( 25606831 )
2015
28
Cherubism Study Results May Apply to Common Inflammatory Bone Diseases. ( 26473261 )
2015
29
Clinicoradiologic features of cherubism: a case report and literature review. ( 25184726 )
2014
30
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
31
A possible case of cherubism in a 17th-century Korean mummy. ( 25093864 )
2014
32
Familial case of cherubism from South India: differential diagnosis and report of 2 cases. ( 25548687 )
2014
33
Cherubism with multiple dental abnormalities: a rare presentation. ( 25301429 )
2014
34
Postpubertal cherubism with Noonan syndrome. ( 24718001 )
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
Cherubism: A rare case report. ( 25097445 )
2014
39
Cherubism: a case report of a three-generation inheritance and literature review. ( 24280174 )
2014
40
Maxillo-facial radiology case 120. Cherubism. ( 24984391 )
2014
41
Enhanced TLR-MYD88 signaling stimulates autoinflammation in SH3BP2 cherubism mice and defines the etiology of cherubism. ( 25220465 )
2014
42
Cherubism: a case report. ( 25178340 )
2014
43
Non-familial cherubism: clinical and radiological findings. ( 24695657 )
2014
44
Etanercept administration to neonatal SH3BP2 knock-in cherubism mice prevents TNF-I+-induced inflammation and bone loss. ( 24978678 )
2014
45
Cherubism: Report of Three Cases and Literature Review. ( 25264591 )
2014
46
SH3BP2 Cherubism Mutation Potentiates TNF-I+-Induced Osteoclastogenesis Via NFATc1 and TNF-I+-Mediated Inflammatory Bone Loss. ( 24916406 )
2014
47
Non-hereditary cherubism. ( 24959043 )
2014
48
Cherubism. ( 24037598 )
2013
49
Rare form of cherubism: Case report with review of literature. ( 23956593 )
2013
50
Cherubism: panoramic and CT features in adults. ( 24048692 )
2013

Variations for Cherubism

UniProtKB/Swiss-Prot genetic disease variations for Cherubism:

71
# 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
# 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

Pathways related to Cherubism according to GeneCards Suite gene sharing:

(show all 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.97 CSF1 FGFR3 PTPN11 SRC TNFSF11
2
Show member pathways
12.78 CSF1 FGFR3 PTPN11 SRC TNFSF11
3
Show member pathways
12.29 PTPN11 SRC TNKS
4
Show member pathways
12.27 NFATC1 PTPN11 SH3BP2
5
Show member pathways
12.2 PTPN11 SRC TNFSF11
6
Show member pathways
12.2 CSF1 FGFR3 PTPN11 SRC
7
Show member pathways
12.17 FGFR3 PTPN11 SRC
8
Show member pathways
12.06 NFATC1 PTPN11 SRC
9
Show member pathways
12.03 NFATC1 PTPN11 SH3BP2
10
Show member pathways
12.01 NFATC1 SRC TNFSF11
11
Show member pathways
11.87 FGFR3 PTPN11 SRC
12
Show member pathways
11.51 NFATC1 PTPN11 SRC TNFSF11
13 11.44 CSF1 NFATC1 TNFSF11
14 11.36 PTPN11 SRC
15 11.3 CSF1 SRC
16 11.28 CSF1 TNFSF11
17 11.26 PTPN11 SRC
18 11.23 NFATC1 PTPN11
19 11.21 FGFR3 SRC
20 11.19 PTPN11 SRC
21
Show member pathways
11.16 CSF1 SRC
22 11.13 PTPN11 SRC
23 11.09 PTPN11 SRC
24 10.77 PTPN11 SRC
25 10.46 CSF1 PTPN11 SRC

GO Terms for Cherubism

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

# 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:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.63 FGFR3 PTPN11 SRC
2 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.52 FGFR3 PTPN11
3 platelet-derived growth factor receptor signaling pathway GO:0048008 9.51 PTPN11 SRC
4 homeostasis of number of cells within a tissue GO:0048873 9.49 CSF1 PTPN11
5 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.48 FGFR3 SRC
6 osteoclast differentiation GO:0030316 9.43 CSF1 TNFSF11
7 bone resorption GO:0045453 9.4 SRC TNFSF11
8 positive regulation of osteoclast differentiation GO:0045672 9.37 CSF1 TNFSF11
9 neurotrophin TRK receptor signaling pathway GO:0048011 9.32 PTPN11 SRC
10 branching involved in mammary gland duct morphogenesis GO:0060444 9.26 CSF1 SRC
11 positive regulation of intracellular signal transduction GO:1902533 9.16 SRC TNFSF11
12 osteoclast proliferation GO:0002158 8.96 CSF1 TNFSF11
13 positive regulation of protein kinase B signaling GO:0051897 8.92 FGFR3 PTPN11 SRC TNFSF11

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

# Name GO ID Score Top Affiliating Genes
1 1-phosphatidylinositol-3-kinase activity GO:0016303 9.16 FGFR3 PTPN11
2 insulin receptor binding GO:0005158 8.96 PTPN11 SRC
3 SH3/SH2 adaptor activity GO:0005070 8.8 PTPN11 SH3BP2 SRC

Sources for Cherubism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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