MCID: CHR003
MIFTS: 60

Cherubism malady

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

Summaries for Cherubism

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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 strontium ranelate and denosumab 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:41 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:63 Cherubism is a rare genetic disorder that causes prominence in the lower portion in the face. The name... more...

Description from OMIM:45 118400

GeneReviews summary for cherubism

Aliases & Classifications for Cherubism

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 38NCIt, 55SNOMED-CT, 33MeSH, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Cherubism, Aliases & Descriptions:

Name: Cherubism 45 9 10 19 41 20 21 11 43 47 60
Crbm 41 47
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):

47
cherubism:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

OMIM45 118400
Disease Ontology9 DOID:1856
NCIt38 C84630
MeSH33 D002636
SNOMED-CT55 53432004, 76098004
Orphanet47 184
MESH via Orphanet34 D002636
ICD10 via Orphanet26 K10.8
UMLS via Orphanet61 C0008029

Related Diseases for Cherubism

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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

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Symptoms by clinical synopsis from OMIM:

118400

Clinical features from OMIM:

118400

Symptoms:

 47 (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

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Drug clinical trials:

Search ClinicalTrials for Cherubism

Search NIH Clinical Center for Cherubism

Genetic Tests for Cherubism

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Genetic tests related to Cherubism:

id Genetic test Affiliating Genes
1 Cherubism20 SH3BP2

Anatomical Context for Cherubism

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MalaCards organs/tissues related to Cherubism:

31
Bone, Bone marrow, Testes, B cells

Animal Models for Cherubism or affiliated genes

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MGI Mouse Phenotypes related to Cherubism:

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

Publications for Cherubism

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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

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UniProtKB/Swiss-Prot genetic disease variations for Cherubism:

62
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:

6
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

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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 top 50)    (show all 57)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8PTPN11, NF1
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
59.6TNFSF11, PTPN11, VAV1
6
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)36
9.6PTPN11, VAV1, SRC
79.6SRC, VAV1, PTPN11
8
Show member pathways
Development Flt3 signaling58
9.6SRC, VAV1, PTPN11
9
Show member pathways
9.6TNKS2, TNKS
10
Show member pathways
9.5GNAS, PTPN11, SRC, FGFR3
119.4SYK, SRC
12
Show member pathways
9.4SRC, NFAT5, NFATC1, FGFR3
13
Show member pathways
Prolactin Signaling Pathway36
Development Prolactin receptor signaling58
Leptin signaling pathway36
9.4SRC, VAV1, PTPN11, TNFSF11
14
Show member pathways
Apoptosis and survival BAD phosphorylation58
Development Alpha 2 adrenergic receptor activation of ERK58
Chemotaxis CXCR4 signaling pathway58
9.3SRC, VAV1, PTPN11, GNAS
15
Show member pathways
9.2PTPN11, SRC, UBC, FGFR3
16
Show member pathways
9.2TNFSF11, PTPN11, SRC, CSF1, FGFR3
179.2FGFR3, SYK, SRC
18
Show member pathways
9.1SRC, NFAT5, NFATC1, UBC
199.0SYK, VAV1, PTPN11
20
Show member pathways
9.0SYK, VAV1, PTPN11
21
Show member pathways
9.0VAV1, SRC, 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 pathways58
Immune response IL 1 signaling pathway58
8.8PTPN11, SRC, SYK, NFATC1
248.8PTPN11, VAV1, SRC, SYK
25
Show member pathways
8.8PTPN11, VAV1, SRC, SYK
26
Show member pathways
Immune response BCR pathway58
Fc-epsilon receptor I signaling in mast cells36
8.8SYK, SRC, VAV1, PTPN11
278.8TNFSF11, SYK, CSF1, NFATC1
28
Show member pathways
8.8GNAS, PTPN11, SRC, CSF1, NF1, FGFR3
29
Show member pathways
Development EDNRB signaling58
Development ACM2 and ACM4 activation of ERK58
Cell adhesion Integrin inside out signaling58
Development G Proteins mediated regulation MARK ERK signaling58
Signal transduction IP3 signaling58
Development Angiotensin signaling via PYK258
Development EPO induced MAPK pathway58
8.7GNAS, VAV1, SRC, SYK
30
Show member pathways
BCR signaling pathway36
TCR Signaling Pathway36
8.7NFATC1, SYK, VAV1, PTPN11
31
Show member pathways
8.7NFATC1, NFAT5, SYK, VAV1
32
Show member pathways
Immune response T cell receptor signaling pathway58
Immune response CD28 signaling58
Immune response ICOS pathway in T helper cell58
8.7VAV1, SYK, NFAT5, NFATC1
338.6PTPN11, VAV1, SRC, CALCA, UBC, FGFR3
34
Show member pathways
8.6FGFR3, NFATC1, NFAT5, SYK, SRC
35
Show member pathways
8.6SRC, SYK, NFAT5, NFATC1, FGFR3
36
Show member pathways
RANKL/RANK Signaling Pathway36
Apoptosis and survival APRIL and BAFF signaling58
8.6TNFSF11, SRC, SYK, NFAT5, NFATC1
37
Show member pathways
8.5PTPN11, VAV1, SYK, UBC
38
Show member pathways
8.5GNAS, PTPN11, VAV1, SRC, SYK
39
Show member pathways
Immune response CD16 signaling in NK cells58
8.5SH3BP2, PTPN11, VAV1, SYK, NFATC1
408.5SH3BP2, PTPN11, VAV1, SYK, NFATC1
41
Show member pathways
8.4VAV1, SRC, SYK, NFAT5, NFATC1
42
Show member pathways
8.3TNFSF11, SRC, CSF1, NFAT5, NFATC1, UBC
43
Show member pathways
8.3FGFR3, UBC, SYK, VAV1, PTPN11
44
Show member pathways
8.3TNFSF11, VAV1, SRC, SYK, CSF1, FGFR3
45
Show member pathways
8.2VAV1, SRC, SYK, NFAT5, NFATC1, FGFR3
46
Show member pathways
8.2VAV1, SRC, SYK, NFAT5, NFATC1, FGFR3
47
Show member pathways
8.1PTPN11, VAV1, SRC, SYK, UBC, FGFR3
48
Show member pathways
8.1PTPN11, VAV1, SRC, SYK, UBC, FGFR3
49
Show member pathways
7.7FGFR3, UBC, NFATC1, SYK, SRC, VAV1
50
Show member pathways
7.2GNAS, PTPN11, VAV1, SRC, SYK, CALCA

Compounds for genes affiliated with Cherubism

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Compounds related to Cherubism according to GeneCards Suite gene sharing:

(show top 50)    (show all 80)
idCompoundScoreTop Affiliating Genes
1strontium ranelate4310.3CALCA, TNFSF11
2denosumab43 1211.3CALCA, TNFSF11
3zoledronic acid4310.1CALCA, SRC, TNFSF11
4teriparatide43 1211.1TNFSF11, CALCA
5tartrate4310.1TNFSF11, CSF1, CALCA
6vitamin k24310.1TNFSF11, CSF1, CALCA
7raloxifene43 49 28 1213.1CALCA, SRC, TNFSF11
8echistatin4310.0SRC, PTPN11
9ibandronate43 1210.9CALCA, TNFSF11
10calcitriol43 59 24 1212.8TNFSF11, SRC, CSF1, CALCA
11phosphatidylinositol-3,4,5-trisphosphate43 2410.7CSF1, SRC, VAV1, PTPN11
12indomethacin43 28 59 1212.6TNFSF11, SRC, CSF1, CALCA
13guanosine43 24 1211.6NF1, VAV1, GNAS
14guanine43 24 1211.5GNAS, VAV1, SRC, CALCA, FGFR3
15gp 130439.5TNFSF11, PTPN11, VAV1, SRC, CSF1
16pge2439.5CALCA, CSF1, SRC, TNFSF11, GNAS
17phenylarsine oxide439.5SYK, SRC, PTPN11
18forskolin43 49 1211.5GNAS, TNFSF11, PTPN11, CALCA, NF1
19acetylcholine43 49 28 24 1213.4PTPN11, SRC, CSF1, CALCA
20rapamycin439.4TNFSF11, PTPN11, SRC, CSF1, NF1
21piceatannol43 59 1211.4VAV1, SRC, SYK
22adenylate439.2GNAS, SRC, CSF1, CALCA, NF1
23cyclosporin a43 28 5911.2TNFSF11, VAV1, SRC, CALCA, NFAT5, NFATC1
24herbimycin a43 5910.1PTPN11, VAV1, SRC, SYK
254-amino-5-(4-chlorophenyl)-7-(t-butyl)pyrazolo[3,4-d]pyrimidine439.1SYK, SRC
26n acetylcysteine439.1CSF1, SYK, SRC, TNFSF11
27imatinib43 49 1211.1PTPN11, SRC, SYK, CSF1, FGFR3
28ly294002439.0CSF1, SYK, SRC, PTPN11, TNFSF11
29inositol439.0PTPN11, SRC, SYK, CSF1, NFAT5
30sb 20358043 5910.0TNFSF11, PTPN11, SRC, SYK, NFATC1
31arginine439.0GNAS, PTPN11, VAV1, CSF1, NF1, FGFR3
32rantes438.9TNFSF11, PTPN11, SYK, CSF1, NFATC1
33histamine43 28 2410.9CALCA, CSF1, SYK, SRC
34gdp438.9GNAS, VAV1, SYK, NF1
35wortmannin438.9PTPN11, VAV1, SRC, SYK, CSF1
36h2o2438.8TNFSF11, PTPN11, SRC, SYK, CSF1
37glutamate438.8GNAS, PTPN11, SRC, SYK, CALCA, FGFR3
38phenylalanine438.7PTPN11, VAV1, SRC, SYK, CSF1, FGFR3
39phosphotyrosine438.7PTPN11, VAV1, SRC, SYK, CSF1, FGFR3
40oligonucleotide438.5GNAS, PTPN11, VAV1, SYK, NF1, FGFR3
41estrogen438.5TNFSF11, SRC, SYK, CSF1, CALCA, NF1
42threonine438.5GNAS, TNFSF11, PTPN11, VAV1, SRC, SYK
43vegf438.3TNFSF11, PTPN11, SRC, SYK, CSF1, CALCA
44lipid438.3GNAS, TNFSF11, PTPN11, VAV1, SYK, NF1
45dexamethasone43 49 28 1211.0TNFSF11, PTPN11, VAV1, SRC, SYK, CSF1
46phosphatidylinositol437.9TNFSF11, PTPN11, VAV1, SRC, SYK, CSF1
47cysteine437.8FGFR3, GNAS, TNFSF11, PTPN11, VAV1, SRC
48serine437.8GNAS, TNFSF11, PTPN11, VAV1, SRC, SYK
49tyrosine437.8GNAS, TNFSF11, PTPN11, VAV1, SRC, SYK
50calcium43 49 24 1210.5GNAS, TNFSF11, PTPN11, VAV1, SYK, CALCA

GO Terms for genes affiliated with Cherubism

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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:000215810.3TNFSF11, CSF1
2monocyte chemotaxisGO:000254810.3CALCA, TNFSF11
3positive regulation of macrophage differentiationGO:004565110.2CALCA, CSF1
4branching involved in mammary gland duct morphogenesisGO:006044410.2SRC, CSF1
5positive regulation of adenylate cyclase activityGO:004576210.2NF1, CALCA
6bone resorptionGO:004545310.2TNFSF11, SRC
7negative regulation of astrocyte differentiationGO:004871210.2FGFR3, NF1
8regulation of bone resorptionGO:004512410.2SRC, NF1
9negative regulation of osteoclast differentiationGO:004567110.1NF1, CALCA
10positive regulation of osteoclast differentiationGO:004567210.0CSF1, TNFSF11, GNAS
11osteoclast differentiationGO:003031610.0NFATC1, CSF1, TNFSF11
12T cell costimulationGO:003129510.0SRC, VAV1, PTPN11
13positive regulation of telomere maintenance via telomeraseGO:00322129.9TNKS, TNKS2
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:00323209.9NF1, GNAS
18cognitionGO:00508909.8GNAS, NF1
19positive regulation of bone resorptionGO:00457809.7TNFSF11, SYK
20protein ADP-ribosylationGO:00064719.7TNKS, TNKS2
21heart developmentGO:00075079.7PTPN11, NFATC1, NF1
22endochondral ossificationGO:00019589.7FGFR3, GNAS
23regulation of multicellular organism growthGO:00400149.6PTPN11, TNKS2
24Fc-gamma receptor signaling pathway involved in phagocytosisGO:00380969.4SYK, SRC, VAV1
25leukocyte cell-cell adhesionGO:00071599.3CALCA, SYK
26protein polyubiquitinationGO:00002099.3UBC, TNKS2, TNKS
27Wnt signaling pathwayGO:00160559.3TNKS, TNKS2, RNF146
28fibroblast growth factor receptor signaling pathwayGO:00085439.3PTPN11, VAV1, SRC, UBC, FGFR3
29epidermal growth factor receptor signaling pathwayGO:00071739.3PTPN11, VAV1, SRC, UBC, FGFR3
30neurotrophin TRK receptor signaling pathwayGO:00480119.3PTPN11, VAV1, SRC, UBC, FGFR3
31protein autophosphorylationGO:00467779.3FGFR3, SYK, SRC
32positive regulation of transcription from RNA polymerase II promoterGO:00459449.1TNKS, TNFSF11, NFAT5, NFATC1, UBC
33positive regulation of canonical Wnt signaling pathwayGO:00902639.0FGFR3, SRC, RNF146, TNKS2, TNKS
34blood coagulationGO:00075968.9GNAS, PTPN11, VAV1, SRC, SYK
35Fc-epsilon receptor signaling pathwayGO:00380958.4PTPN11, VAV1, SYK, NFATC1, UBC, FGFR3
36innate immune responseGO:00450877.8PTPN11, VAV1, SRC, SYK, CSF1, NFATC1

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

Products for genes affiliated with Cherubism

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Cherubism

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet