MCID: CHR003
MIFTS: 60

Cherubism malady

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

Aliases & Classifications for Cherubism

About this section
Sources:
46OMIM, 8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 48Orphanet, 61UMLS, 39NCIt, 56SNOMED-CT, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Cherubism:

Name: Cherubism 46 8 9 19 42 20 21 10 44 48 61
Crbm 42 48
Familial Multilocular Cystic Disease of the Jaws 21
 
Familial Benign Giant-Cell Tumor of the Jaw 21
Familial Fibrous Dysplasia of Jaw 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
cherubism:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

OMIM46 118400
Disease Ontology8 DOID:1856
NCIt39 C84630
MeSH33 D002636
SNOMED-CT56 53432004, 76098004
Orphanet48 184
MESH via Orphanet34 D002636
ICD10 via Orphanet26 K10.8
UMLS via Orphanet62 C0008029

Summaries for Cherubism

About this section
Genetics Home Reference:21 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 giant cell reparative granuloma, 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 pilocytic astrocytoma and Insulin receptor recycling. The compounds denosumab and strontium ranelate have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and testes, and related mouse phenotypes are tumorigenesis and hearing/vestibular/ear.

NIH Rare Diseases:42 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

Wikipedia:64 Cherubism is a rare genetic disorder that causes prominence in the lower portion in the face. The name... more...

Description from OMIM:46 118400

GeneReviews summary for cherubism

Related Diseases for Cherubism

About this section

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

(show top 50)    (show all 116)
idRelated DiseaseScoreTop Affiliating Genes
1fibrous dysplasia31.3GNAS
2giant cell reparative granuloma30.8CALCA, SH3BP2
3giant cell tumor30.4TNFSF11, CSF1, CALCA, FGFR3
4hyperparathyroidism30.0NF1, CALCA, TNFSF11
5mental retardation29.8FGFR3, NF1, PTPN11, GNAS
6arthritis29.6TNFSF11, PTPN11, SRC, SYK, CSF1, CALCA
7rheumatoid arthritis29.6TNFSF11, PTPN11, SYK, CSF1, NFATC1
8vipoma10.5CALCA
9paget disease of bone10.5CALCA
10osteitis fibrosa10.5GNAS
11leopard syndrome10.4PTPN11
12paget disease, juvenile10.4TNFSF11, CALCA
13multiple myeloma10.4FGFR3, TNFSF11
14marchiafava bignami disease10.4CALCA, TNFSF11
15pigmented villonodular synovitis10.4CSF1
16multinodular goiter10.4GNAS, CALCA
17ramon syndrome10.3
18pseudohypoparathyroidism10.3CALCA, GNAS
19thyroid cancer10.3FGFR3, CALCA, GNAS
20osteoporosis10.3TNFSF11, CALCA
21parathyroid adenoma10.3CALCA, GNAS
22bladder cancer, somatic10.2FGFR3, CSF1, SRC
23gingivitis10.2
24fibromatosis10.2
25neurofibromatosis-noonan syndrome10.2PTPN11, NF1
26skeletal dysplasia multi-gene panels10.2FGFR3, GNAS
27hypercalcemia10.2TNFSF11, SRC, CSF1, CALCA
28neurofibromatosis10.2
29multiple endocrine neoplasia iia10.1CALCA, NF1
30leukemia, juvenile myelomonocytic10.1PTPN11, NF1
31hematologic cancer10.1PTPN11, SYK, CSF1
32brachydactyly10.1FGFR3, GNAS
33noonan syndrome 110.1PTPN11, NF1
34osteopetrosis10.1TNFSF11, SRC, CSF1, NFATC1
35aneurysmal bone cysts10.1
36neurofibromatosis, type 110.1
37ectodermal dysplasia10.1
38aneurysm10.1
39factor v leiden thrombophilia10.1GNAS, TNFSF11, PTPN11, SYK
40multiple endocrine neoplasia10.0GNAS, CALCA, NF1
41wiskott-aldrich syndrome10.0VAV1, SRC, SYK
42chronic myelomonocytic leukemia10.0NF1, CSF1, PTPN11
43secondary syphilis10.0NFATC1, CALCA, CSF1, SRC, TNFSF11
44prostate cancer10.0GNAS, TNFSF11, PTPN11, SRC, FGFR3
45myelodysplastic syndrome9.9NF1, CSF1, PTPN11
46neuroendocrine tumor9.9GNAS, SRC, CALCA, NF1
47pheochromocytoma9.9GNAS, SRC, CALCA, NF1
48schwartz-jampel syndrome, type 19.9
49diastrophic dysplasia9.9
50costello syndrome9.9

Graphical network of the top 20 diseases related to Cherubism:



Diseases related to cherubism

Symptoms for Cherubism

About this section

Symptoms by clinical synopsis from OMIM:

118400

Clinical features from OMIM:

118400

Symptoms:

 48 (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 21)
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 constricted visual fields HP:0001133
18 optic neuropathy HP:0001138
19 childhood onset HP:0011463
20 macular scarring HP:0200056
21 marcus gunn pupil HP:0200057

Drugs & Therapeutics for Cherubism

About this section

Drug clinical trials:

Search ClinicalTrials for Cherubism

Search NIH Clinical Center for Cherubism

Genetic Tests for Cherubism

About this section

Genetic tests related to Cherubism:

id Genetic test Affiliating Genes
1 Cherubism20 SH3BP2

Anatomical Context for Cherubism

About this section

MalaCards organs/tissues related to Cherubism:

31
Bone, Bone marrow, Testes, B cells

Animal Models for Cherubism or affiliated genes

About this section

MGI Mouse Phenotypes related to Cherubism:

35 (show all 24)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.1FGFR3, NF1, CALCA, SRC, PTPN11
2MP:00053779.0NF1, CALCA, CSF1, PTPN11, GNAS, FGFR3
3MP:00053918.9CSF1, NF1, SH3BP2, PTPN11, FGFR3, SRC
4MP:00053898.9FGFR3, TNFSF11, PTPN11, VAV1, SRC, CSF1
5MP:00053698.7GNAS, CSF1, NF1, NFAT5, PTPN11, SH3BP2
6MP:00028738.6FGFR3, CALCA, VAV1, PTPN11, NF1, GNAS
7MP:00053678.4NF1, GNAS, CALCA, NFAT5, FGFR3, SYK
8MP:00030128.3TNKS, TNFSF11, PTPN11, SYK, CSF1, GNAS
9MP:00053828.3SRC, GNAS, FGFR3, NF1, NFATC1, CSF1
10MP:00053868.2FGFR3, NF1, CSF1, SRC, TNKS, GNAS
11MP:00053807.8NF1, UBC, SRC, CALCA, VAV1, PTPN11
12MP:00053857.7GNAS, PTPN11, CSF1, CALCA, SYK, NF1
13MP:00053717.7FGFR3, PTPN11, GNAS, TNFSF11, SRC, SYK
14MP:00036317.6FGFR3, SYK, SRC, CSF1, GNAS, CALCA
15MP:00053707.6SH3BP2, PTPN11, SYK, CSF1, NFATC1, NF1
16MP:00053887.5FGFR3, CALCA, CSF1, SYK, SRC, NFATC1
17MP:00053907.3SRC, SYK, CSF1, NFATC1, NF1, FGFR3
18MP:00107717.2FGFR3, TNFSF11, TNKS2, TNKS, GNAS, SH3BP2
19MP:00053876.8GNAS, SH3BP2, PTPN11, VAV1, TNFSF11, SRC
20MP:00053786.8PTPN11, TNKS, TNKS2, TNFSF11, NFATC1, NFAT5
21MP:00053766.6SYK, VAV1, SH3BP2, TNFSF11, TNKS, GNAS
22MP:00053976.3FGFR3, SRC, GNAS, VAV1, PTPN11, SH3BP2
23MP:00053845.6SYK, CSF1, NFAT5, NFATC1, NF1, FGFR3
24MP:00107685.2PTPN11, NF1, NFATC1, NFAT5, CALCA, CSF1

Publications for Cherubism

About this section

Articles related to Cherubism:

(show top 50)    (show all 232)
idTitleAuthorsYear
1
Bone marrow transplantation improves autoinflammation and inflammatory bone loss in SH3BP2 knock-in cherubism mice. (25445458)
2015
2
Cherubism with multiple dental abnormalities: a rare presentation. (25301429)
2014
3
Non-hereditary cherubism. (24959043)
2014
4
Cherubism: A rare case report. (25097445)
2014
5
Enhanced TLR-MYD88 signaling stimulates autoinflammation in SH3BP2 cherubism mice and defines the etiology of cherubism. (25220465)
2014
6
Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life. (23298620)
2013
7
Mutations of the SH3BP2 gene in 2 families of cherubism. (22795151)
2012
8
The surgical and orthodontic management of cherubism in a growing child. (21676623)
2012
9
Clinical and radiological features of nonfamilial cherubism: A case report. (23049582)
2012
10
Loss of Tankyrase-mediated destruction of 3BP2 is the underlying pathogenic mechanism of cherubism. (22153076)
2011
11
SH3BP2-encoding exons involved in cherubism are not associated with central giant cell granuloma. (21680150)
2011
12
Enhancement of B-cell receptor signaling by a point mutation of adaptor protein 3BP2 identified in human inherited disease cherubism. (21794028)
2011
13
Treatment of cherubism with salmon calcitonin: a case report. (21912506)
2011
14
Cherubism: clinicoradiographic features and treatment. (24421967)
2010
15
Pro416Arg cherubism mutation in Sh3bp2 knock-in mice affects osteoblasts and alters bone mineral and matrix properties. (20117257)
2010
16
Oral and maxillofacial pathology. Case of the month: cherubism. (19388439)
2009
17
A cherubism with aneurysmal bone cyst. (19386735)
2009
18
Fine-needle aspiration cytological features of Cherubism. (18232001)
2008
19
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
20
A new mutation in the SH3BP2 gene showing reduced penetrance in a family affected with cherubism. (17321449)
2007
21
Cherubism in siblings: A case report. (17456964)
2007
22
Jawing about TNF: new hope for cherubism. (17218248)
2007
23
Clinicopathologic study of 24 cases of cherubism. (16053841)
2005
24
Aggressive behaviour of cherubism in a teenager: 4-years of clinical follow-up associated with radiographic and histological features. (16120883)
2005
25
Cherubism: clinical evidence and therapy. (12621291)
2003
26
An extreme case of cherubism. (11883969)
2002
27
Cherubism. (23119899)
2002
28
Cherubism--clinical picture and treatment. (11355438)
2001
29
Orbital involvement in cherubism. (11272784)
2001
30
Aggressive form of cherubism: report of a case. (10716121)
2000
31
Cherubism: a 36-year long-term follow-up of 2 generations in different families and review of the literature. (11113824)
2000
32
Familial craniofacial fibrous dysplasia: absence of linkage to GNAS1 and the gene for cherubism. (11073546)
2000
33
Cherubism: clinicopathologic features. (10450884)
1999
34
Cherubism: a study of three generations. (11507493)
1998
35
Cherubism: a radiological and clinical presentation. (9763913)
1998
36
Imaging quiz case 2. Cherubism. (9006516)
1997
37
Cherubism: presentation of a case. (9188969)
1997
38
Cherubism: report of an aggressive case and review of the literature. (8492214)
1993
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

About this section

UniProtKB/Swiss-Prot genetic disease variations for Cherubism:

63
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

About this section
Search GEO for disease gene expression data for Cherubism.

Pathways for genes affiliated with Cherubism

About this section

Pathways related to Cherubism according to GeneCards Suite gene sharing:

(show top 50)    (show all 57)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8NF1, PTPN11
2
Show member pathways
9.7GNAS, PTPN11, SRC
39.7CSF1, SRC, PTPN11
4
Show member pathways
TCR signaling in naive CD8+ T cells36
9.7VAV1, PTPN11, SH3BP2
59.6PTPN11, VAV1, TNFSF11
69.6PTPN11, VAV1, SRC
7
Show member pathways
Development Flt3 signaling59
9.6PTPN11, VAV1, SRC
8
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)36
9.6SRC, VAV1, PTPN11
9
Show member pathways
9.6TNKS, TNKS2
10
Show member pathways
9.5GNAS, FGFR3, SRC, PTPN11
119.4SRC, SYK
12
Show member pathways
9.4NFATC1, SRC, NFAT5, FGFR3
13
Show member pathways
Prolactin Signaling Pathway36
Development Prolactin receptor signaling59
Leptin signaling pathway36
9.4PTPN11, VAV1, SRC, TNFSF11
14
Show member pathways
Apoptosis and survival BAD phosphorylation59
Development Alpha 2 adrenergic receptor activation of ERK59
Chemotaxis CXCR4 signaling pathway59
9.3SRC, VAV1, PTPN11, GNAS
15
Show member pathways
9.2SRC, PTPN11, UBC, FGFR3
16
Show member pathways
9.2PTPN11, CSF1, SRC, FGFR3, TNFSF11
179.2SRC, SYK, FGFR3
18
Show member pathways
9.1NFAT5, NFATC1, UBC, SRC
199.0SYK, PTPN11, VAV1
20
Show member pathways
9.0SYK, VAV1, PTPN11
21
Show member pathways
9.0SRC, VAV1, SYK
22
Show member pathways
8.9VAV1, SYK, NFATC1
23
Show member pathways
Immune response Role of TLRs 3 and 4 in cell antiviral response TICAM1 specific signaling pathways59
Immune response IL 1 signaling pathway59
8.8NFATC1, SYK, SRC, PTPN11
24
Show member pathways
Immune response BCR pathway59
Fc-epsilon receptor I signaling in mast cells36
8.8SRC, VAV1, PTPN11, SYK
258.8SYK, SRC, PTPN11, VAV1
26
Show member pathways
8.8SRC, SYK, VAV1, PTPN11
278.8TNFSF11, SYK, NFATC1, CSF1
28
Show member pathways
8.8PTPN11, FGFR3, GNAS, SRC, CSF1, NF1
29
Show member pathways
Development EDNRB signaling59
Development ACM2 and ACM4 activation of ERK59
Cell adhesion Integrin inside out signaling59
Development G Proteins mediated regulation MARK ERK signaling59
Signal transduction IP3 signaling59
Development Angiotensin signaling via PYK259
Development EPO induced MAPK pathway59
8.7VAV1, SYK, SRC, GNAS
30
Show member pathways
BCR signaling pathway36
TCR Signaling Pathway36
8.7NFATC1, SYK, PTPN11, VAV1
31
Show member pathways
8.7SYK, NFAT5, NFATC1, VAV1
32
Show member pathways
Immune response T cell receptor signaling pathway59
Immune response CD28 signaling59
Immune response ICOS pathway in T helper cell59
8.7NFAT5, SYK, VAV1, NFATC1
338.6PTPN11, VAV1, SRC, CALCA, UBC, FGFR3
34
Show member pathways
8.6FGFR3, SRC, NFATC1, NFAT5, SYK
35
Show member pathways
8.6FGFR3, NFATC1, SRC, SYK, NFAT5
36
Show member pathways
RANKL/RANK Signaling Pathway36
Apoptosis and survival APRIL and BAFF signaling59
8.6TNFSF11, SRC, SYK, NFAT5, NFATC1
37
Show member pathways
8.5SYK, PTPN11, VAV1, UBC
38
Show member pathways
8.5PTPN11, VAV1, SRC, GNAS, SYK
398.5SYK, VAV1, NFATC1, SH3BP2, PTPN11
40
Show member pathways
Immune response CD16 signaling in NK cells59
8.5PTPN11, SYK, SH3BP2, NFATC1, VAV1
41
Show member pathways
8.4NFAT5, SYK, SRC, VAV1, NFATC1
42
Show member pathways
8.3SRC, CSF1, UBC, NFATC1, TNFSF11, FGFR3
43
Show member pathways
8.3FGFR3, VAV1, PTPN11, SYK, UBC
44
Show member pathways
8.3FGFR3, CSF1, SRC, VAV1, TNFSF11, SYK
45
Show member pathways
8.2FGFR3, NFATC1, NFAT5, SYK, SRC, VAV1
46
Show member pathways
8.2VAV1, SRC, SYK, FGFR3, NFAT5, NFATC1
47
Show member pathways
8.1FGFR3, UBC, SYK, SRC, VAV1, PTPN11
48
Show member pathways
8.1PTPN11, UBC, VAV1, SRC, SYK, FGFR3
49
Show member pathways
7.7FGFR3, PTPN11, VAV1, SRC, SYK, NFATC1
50
Show member pathways
7.2GNAS, UBC, SRC, SYK, CALCA, NFATC1

Compounds for genes affiliated with Cherubism

About this section

Compounds related to Cherubism according to GeneCards Suite gene sharing:

(show top 50)    (show all 80)
idCompoundScoreTop Affiliating Genes
1denosumab44 1111.3CALCA, TNFSF11
2strontium ranelate4410.3CALCA, TNFSF11
3zoledronic acid4410.1CALCA, TNFSF11, SRC
4teriparatide44 1111.1CALCA, TNFSF11
5vitamin k24410.1TNFSF11, CALCA, CSF1
6tartrate4410.1CALCA, CSF1, TNFSF11
7raloxifene44 50 28 1113.1CALCA, SRC, TNFSF11
8ibandronate44 1110.9TNFSF11, CALCA
9calcitriol44 60 24 1112.8CSF1, TNFSF11, SRC, CALCA
10echistatin449.7SRC, PTPN11
11phosphatidylinositol-3,4,5-trisphosphate44 2410.7CSF1, PTPN11, VAV1, SRC
12indomethacin44 28 60 1112.6TNFSF11, CSF1, SRC, CALCA
13guanosine44 24 1111.6GNAS, VAV1, NF1
14guanine44 24 1111.5CALCA, GNAS, VAV1, SRC, FGFR3
15gp 130449.5PTPN11, CSF1, SRC, VAV1, TNFSF11
16pge2449.5TNFSF11, GNAS, CSF1, CALCA, SRC
17phenylarsine oxide449.5SRC, PTPN11, SYK
18forskolin44 50 1111.5NF1, PTPN11, TNFSF11, CALCA, GNAS
19acetylcholine44 50 28 24 1113.4PTPN11, CALCA, CSF1, SRC
20rapamycin449.4SRC, CSF1, TNFSF11, NF1, PTPN11
214-amino-5-(4-chlorophenyl)-7-(t-butyl)pyrazolo[3,4-d]pyrimidine449.4SRC, SYK
22piceatannol44 60 1111.4SRC, SYK, VAV1
23adenylate449.2GNAS, SRC, CSF1, CALCA, NF1
24cyclosporin a44 28 6011.2CALCA, NFATC1, TNFSF11, VAV1, SRC, NFAT5
25herbimycin a44 6010.1VAV1, SRC, SYK, PTPN11
26n acetylcysteine449.1SYK, CSF1, SRC, TNFSF11
27imatinib44 50 1111.1CSF1, SYK, SRC, PTPN11, FGFR3
28ly294002449.0CSF1, SRC, PTPN11, TNFSF11, SYK
29inositol449.0SRC, PTPN11, NFAT5, CSF1, SYK
30sb 20358044 6010.0PTPN11, TNFSF11, SYK, SRC, NFATC1
31arginine449.0FGFR3, CSF1, PTPN11, NF1, VAV1, GNAS
32rantes448.9NFATC1, TNFSF11, PTPN11, SYK, CSF1
33histamine44 28 2410.9SRC, CSF1, CALCA, SYK
34gdp448.9GNAS, SYK, NF1, VAV1
35wortmannin448.9SRC, VAV1, CSF1, SYK, PTPN11
36h2o2448.8SYK, PTPN11, TNFSF11, CSF1, SRC
37glutamate448.8PTPN11, CALCA, FGFR3, GNAS, SYK, SRC
38phenylalanine448.7FGFR3, VAV1, PTPN11, SRC, SYK, CSF1
39phosphotyrosine448.7CSF1, PTPN11, VAV1, SRC, SYK, FGFR3
40oligonucleotide448.5NF1, VAV1, GNAS, SYK, PTPN11, FGFR3
41estrogen448.5CALCA, CSF1, SRC, TNFSF11, SYK, NF1
42threonine448.5FGFR3, SRC, VAV1, PTPN11, SYK, TNFSF11
43vegf448.3NFATC1, PTPN11, SRC, SYK, CSF1, CALCA
44lipid448.3FGFR3, NF1, SYK, VAV1, PTPN11, TNFSF11
45dexamethasone44 50 28 1111.0SYK, TNFSF11, SRC, VAV1, PTPN11, FGFR3
46phosphatidylinositol447.9NF1, NFATC1, TNFSF11, PTPN11, VAV1, SRC
47cysteine447.8VAV1, NF1, CSF1, SYK, SRC, PTPN11
48serine447.8PTPN11, FGFR3, NF1, GNAS, CSF1, TNFSF11
49tyrosine447.8GNAS, SYK, PTPN11, VAV1, CSF1, NF1
50calcium44 50 24 1110.5CALCA, NFAT5, GNAS, NFATC1, NF1, FGFR3

GO Terms for genes affiliated with Cherubism

About this section

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

idNameGO IDScoreTop Affiliating Genes
1pericentriolar materialGO:00002429.6TNKS, TNKS2
2nuclear chromosome, telomeric regionGO:00007849.6TNKS2, TNKS
3lysosomeGO:00057649.5FGFR3, SRC, USP6
4perinuclear region of cytoplasmGO:00484718.7GNAS, TNKS2, CSF1, FGFR3
5cytosolGO:00058297.3GNAS, PTPN11, RNF146, VAV1, SRC, SYK
6nucleusGO:00056347.3GNAS, TNKS, TNKS2, PTPN11, RNF146, SRC
7cytoplasmGO:00057377.3NF1, USP6, GNAS, TNKS2, TNFSF11, PTPN11
8plasma membraneGO:00058867.1USP6, GNAS, VAV1, SRC, SYK, CSF1

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

(show all 36)
idNameGO IDScoreTop Affiliating Genes
1osteoclast proliferationGO:000215810.3CSF1, TNFSF11
2monocyte chemotaxisGO:000254810.3TNFSF11, CALCA
3positive regulation of macrophage differentiationGO:004565110.2CSF1, CALCA
4bone resorptionGO:004545310.2SRC, TNFSF11
5branching involved in mammary gland duct morphogenesisGO:006044410.2SRC, CSF1
6positive regulation of adenylate cyclase activityGO:004576210.2NF1, CALCA
7negative regulation of astrocyte differentiationGO:004871210.2FGFR3, NF1
8regulation of bone resorptionGO:004512410.2NF1, SRC
9negative regulation of osteoclast differentiationGO:004567110.1CALCA, NF1
10positive regulation of osteoclast differentiationGO:004567210.0GNAS, TNFSF11, CSF1
11osteoclast differentiationGO:003031610.0TNFSF11, CSF1, NFATC1
12T cell costimulationGO:003129510.0PTPN11, VAV1, SRC
13positive regulation of telomere maintenance via telomeraseGO:00322129.9TNKS2, TNKS
14protein auto-ADP-ribosylationGO:00702139.9TNKS2, TNKS
15phosphatidylinositol-mediated signalingGO:00480159.9PTPN11, VAV1, FGFR3
16protein localization to chromosome, telomeric regionGO:00701989.9TNKS, TNKS2
17positive regulation of Ras GTPase activityGO:00323209.9GNAS, NF1
18cognitionGO:00508909.8GNAS, NF1
19protein ADP-ribosylationGO:00064719.7TNKS2, TNKS
20positive regulation of bone resorptionGO:00457809.7SYK, TNFSF11
21heart developmentGO:00075079.7NF1, NFATC1, PTPN11
22endochondral ossificationGO:00019589.7GNAS, FGFR3
23regulation of multicellular organism growthGO:00400149.6PTPN11, TNKS2
24Fc-gamma receptor signaling pathway involved in phagocytosisGO:00380969.4VAV1, SRC, SYK
25leukocyte cell-cell adhesionGO:00071599.3CALCA, SYK
26protein polyubiquitinationGO:00002099.3TNKS, UBC, TNKS2
27fibroblast growth factor receptor signaling pathwayGO:00085439.3UBC, PTPN11, SRC, VAV1, FGFR3
28epidermal growth factor receptor signaling pathwayGO:00071739.3PTPN11, SRC, UBC, FGFR3, VAV1
29neurotrophin TRK receptor signaling pathwayGO:00480119.3FGFR3, UBC, SRC, VAV1, PTPN11
30protein autophosphorylationGO:00467779.3FGFR3, SRC, SYK
31Wnt signaling pathwayGO:00160559.2TNKS, TNKS2, RNF146
32positive regulation of transcription from RNA polymerase II promoterGO:00459449.1UBC, NFATC1, TNFSF11, NFAT5, TNKS
33positive regulation of canonical Wnt signaling pathwayGO:00902639.0TNKS2, RNF146, SRC, FGFR3, TNKS
34blood coagulationGO:00075968.9SYK, GNAS, SRC, VAV1, PTPN11
35Fc-epsilon receptor signaling pathwayGO:00380958.4VAV1, PTPN11, NFATC1, UBC, FGFR3, SYK
36innate immune responseGO:00450877.8FGFR3, NFATC1, UBC, CSF1, SYK, SRC

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

idNameGO IDScoreTop Affiliating Genes
1SH3/SH2 adaptor activityGO:00050709.7SH3BP2, PTPN11, SRC
2NAD+ ADP-ribosyltransferase activityGO:00039509.6TNKS2, TNKS
3protein tyrosine kinase activityGO:00047138.9FGFR3, SYK, SRC
4protein bindingGO:00055154.4FGFR3, USP6, GNAS, TNKS, TNKS2, SH3BP2

Sources for Cherubism

About this section
2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet