CRBM
MCID: CHR003
MIFTS: 50

Cherubism (CRBM) malady

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

Aliases & Classifications for Cherubism

Aliases & Descriptions for Cherubism:

Name: Cherubism 54 12 23 50 24 25 56 66 13 52 42 14 69
Crbm 50 56 66
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;

GeneReviews:

23
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:

OMIM 54 118400
Disease Ontology 12 DOID:1856
ICD10 33 M27.8
MeSH 42 D002636
NCIt 47 C84630
SNOMED-CT 64 53432004 76098004
Orphanet 56 ORPHA184
UMLS via Orphanet 70 C0008029
MESH via Orphanet 43 D002636
ICD10 via Orphanet 34 K10.8
MedGen 40 C0008029
UMLS 69 C0008029

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 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 Negative regulation of FGFR1 signaling and S45 mutants of beta-catenin arent phosphorylated. Affiliated tissues include bone, testes and b cells, and related phenotypes are integument and craniofacial

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 : 66 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 : 71 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 by clinical synopsis from OMIM:

118400

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

MGI Mouse Phenotypes related to Cherubism:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 9.85 FGFR3 PTPN11 SH3BP2 SRC TNFSF11 TNKS
2 craniofacial MP:0005382 9.8 FGFR3 PTPN11 SH3BP2 SRC TNFSF11
3 mortality/aging MP:0010768 9.8 SH3BP2 SRC STRN TNFSF11 TNKS FGFR3
4 limbs/digits/tail MP:0005371 9.72 FGFR3 PTPN11 SH3BP2 SRC TNFSF11
5 neoplasm MP:0002006 9.46 FGFR3 PTPN11 SRC TNFSF11
6 respiratory system MP:0005388 9.35 FGFR3 PTPN11 SH3BP2 SRC TNFSF11
7 vision/eye MP:0005391 9.02 FGFR3 PTPN11 SH3BP2 SRC TNFSF11

Drugs & Therapeutics for Cherubism

Interventional clinical trials:


id Name Status NCT ID Phase
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, B Cells, Bone Marrow, Ovary

Publications for Cherubism

Articles related to Cherubism:

(show top 50) (show all 252)
id Title Authors Year
1
Nonfamilial cherubism: A case report and review of literature. ( 28479714 )
2017
2
Cherubism: An Unusual Study With Long-Term Follow-Up. ( 27315317 )
2016
3
Cherubism. A case report. ( 27427211 )
2016
4
Case Report of Nonfamilial Cherubism in a Toddler: Description of Clinic-Radiographic Features and Osseous-Dental Treatments. ( 28105052 )
2016
5
Early Presentation of Cherubism. ( 27567661 )
2016
6
Defining a new aggressiveness classification and using NFATc1 localization as a prognostic factor in cherubism. ( 27498064 )
2016
7
Non-Familial Cherubism with Bilateral Maxilla and Mandible Involvement - Clinicoradiographic Findings. ( 27588230 )
2016
8
Cherubism: A Case Report with Surgical Intervention. ( 27272835 )
2016
9
Cherubism in sub-saharan Africa: a first case-report in a child. ( 25918610 )
2015
10
Cherubism misdiagnosed as giant cell tumor: a case report and review of literature. ( 26064398 )
2015
11
Cherubism allele heterozygosity amplifies microbe-induced inflammatory responses in murine macrophages. ( 25705883 )
2015
12
Recurrent cherubism in an adult patient. ( 25933153 )
2015
13
The calcineurin inhibitor tacrolimus as a new therapy in severe cherubism. ( 25491283 )
2015
14
Cherubism With Bilateral Mandible and Maxilla Involvement: A Case Report. ( 26656340 )
2015
15
Cherubism: a case report. ( 25861190 )
2015
16
Cherubism. ( 25606831 )
2015
17
Painless bilateral swelling of the face: think about cherubism. ( 26245886 )
2015
18
Cherubism Study Results May Apply to Common Inflammatory Bone Diseases. ( 26473261 )
2015
19
Late Reactivation of Cherubism in a Patient With New-Onset Polycystic Ovary Syndrome. ( 25957872 )
2015
20
Fibrous dysplasia and cherubism. ( 26933277 )
2015
21
Oral and Maxillofacial Pathology. Case of Month. Cherubism. ( 26237934 )
2015
22
Bone marrow transplantation improves autoinflammation and inflammatory bone loss in SH3BP2 knock-in cherubism mice. ( 25445458 )
2015
23
Ophthalmic manifestations of cherubism. ( 25727591 )
2015
24
A case of cherubism with spondyloarthropathy. ( 25960037 )
2015
25
Clinicoradiologic features of cherubism: a case report and literature review. ( 25184726 )
2014
26
Cherubism: A rare case report. ( 25097445 )
2014
27
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
28
Cherubism with multiple dental abnormalities: a rare presentation. ( 25301429 )
2014
29
Familial case of cherubism from South India: differential diagnosis and report of 2 cases. ( 25548687 )
2014
30
Cherubism: a case report. ( 25178340 )
2014
31
SH3BP2 Cherubism Mutation Potentiates TNF-I+-Induced Osteoclastogenesis Via NFATc1 and TNF-I+-Mediated Inflammatory Bone Loss. ( 24916406 )
2014
32
Etanercept administration to neonatal SH3BP2 knock-in cherubism mice prevents TNF-I+-induced inflammation and bone loss. ( 24978678 )
2014
33
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
34
Non-hereditary cherubism. ( 24959043 )
2014
35
Orthodontic treatment in cherubism: an overview and a case report. ( 25549525 )
2014
36
Non-familial cherubism: clinical and radiological findings. ( 24695657 )
2014
37
Enhanced TLR-MYD88 signaling stimulates autoinflammation in SH3BP2 cherubism mice and defines the etiology of cherubism. ( 25220465 )
2014
38
Odontogenic Myxoma of the Face: Mimicry of Cherubism. ( 25200927 )
2014
39
Postpubertal cherubism with Noonan syndrome. ( 24718001 )
2014
40
Cherubism: Report of Three Cases and Literature Review. ( 25264591 )
2014
41
Cherubism: a case report of a three-generation inheritance and literature review. ( 24280174 )
2014
42
Maxillo-facial radiology case 120. Cherubism. ( 24984391 )
2014
43
A possible case of cherubism in a 17th-century Korean mummy. ( 25093864 )
2014
44
Erratum to: 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. ( 25480422 )
2014
45
Cherubism. ( 23833006 )
2013
46
Rare form of cherubism: Case report with review of literature. ( 23956593 )
2013
47
Cherubism: Report of a case. ( 24124304 )
2013
48
Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life. ( 23298620 )
2013
49
Analysis of giant cell tumour of bone cells for Noonan syndrome/cherubism-related mutations. ( 22725657 )
2013
50
Clinical and imagiological findings of central giant cell lesion and cherubism. ( 23657418 )
2013

Variations for Cherubism

UniProtKB/Swiss-Prot genetic disease variations for Cherubism:

66
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

Pathways related to Cherubism according to GeneCards Suite gene sharing:

(show all 16)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.25 FGFR3 PTPN11 SRC
2
Show member pathways
12.19 PTPN11 SRC TNKS
3
Show member pathways
12.03 PTPN11 SRC TNFSF11
4
Show member pathways
12.02 FGFR3 PTPN11 SRC
5
Show member pathways
11.69 PTPN11 SRC TNFSF11
6 11.38 PTPN11 SRC
7 11.27 PTPN11 SRC
8 11.18 PTPN11 SRC
9 11.16 PTPN11 SRC
10 11.13 FGFR3 SRC
11 11.1 PTPN11 SRC
12
Show member pathways
11.09 FGFR3 PTPN11 SRC
13 10.97 PTPN11 SRC
14 10.9 PTPN11 SRC
15 10.57 SRC STRN
16 10.35 PTPN11 SRC

GO Terms for Cherubism

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

id Name GO ID Score Top Affiliating Genes
1 positive regulation of signal transduction GO:0009967 9.48 PTPN11 SH3BP2
2 positive regulation of MAP kinase activity GO:0043406 9.46 SRC TNFSF11
3 epidermal growth factor receptor signaling pathway GO:0007173 9.43 PTPN11 SRC
4 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.4 FGFR3 PTPN11
5 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.37 FGFR3 SRC
6 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.33 FGFR3 PTPN11 SRC
7 platelet-derived growth factor receptor signaling pathway GO:0048008 9.32 PTPN11 SRC
8 bone resorption GO:0045453 9.26 SRC TNFSF11
9 neurotrophin TRK receptor signaling pathway GO:0048011 8.96 PTPN11 SRC
10 positive regulation of intracellular signal transduction GO:1902533 8.62 SRC TNFSF11

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

id Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.37 FGFR3 PTPN11
2 cell adhesion molecule binding GO:0050839 9.32 PTPN11 SRC
3 1-phosphatidylinositol-3-kinase activity GO:0016303 9.26 FGFR3 PTPN11
4 estrogen receptor binding GO:0030331 9.16 SRC STRN
5 insulin receptor binding GO:0005158 8.96 PTPN11 SRC
6 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
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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....