CRBM
MCID: CHR003
MIFTS: 68

Cherubism (CRBM) malady

Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Oral diseases, Cancer diseases categories
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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 familial multilocular cystic disease of the jaws, is related to giant cell reparative granuloma and noonan syndrome, and has symptoms including high cheek bones, enlargment of jaw/large jaw and bone/osseous neoplasm/tumor/carcinoma/cancer. 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, testes and b cells, 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:65 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

Aliases & Classifications for Cherubism

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Sources:
8Disease Ontology, 9diseasecard, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 57SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Cherubism, Aliases & Descriptions:

Name: Cherubism 8 9 19 42 20 21 46 10 44 48 62
Familial Multilocular Cystic Disease of the Jaws 21 62
Familial Benign Giant-Cell Tumor of the Jaw 21 62
 
Familial Fibrous Dysplasia of Jaw 21 62
Crbm 42 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
cherubism:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic; Age of onset: Childhood; Age of death: Normal


External Ids:

Disease Ontology8 DOID:1856
MeSH34 D002636
OMIM46 118400
NCIt39 C84630
SNOMED-CT57 53432004, 76098004
MESH via Orphanet35 D002636
ICD10 via Orphanet26 K10.8
UMLS via Orphanet63 C0008029

Related Diseases for Cherubism

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

(show top 50)    (show all 123)
idRelated DiseaseScoreTop Affiliating Genes
1giant cell reparative granuloma30.7CALCA, SH3BP2
2noonan syndrome30.4NF1, PTPN11
3giant cell tumor30.4CSF1, TNFSF11, CALCA, FGFR3
4hyperparathyroidism30.0CALCA, NF1, TNFSF11
5short stature29.8GNAS, NF1, FGFR3, PTPN11
6mental retardation29.8NF1, FGFR3, PTPN11, GNAS
7arthritis29.6CSF1, SYK, CALCA, SRC, TNFSF11, PTPN11
8rheumatoid arthritis29.6CSF1, TNFSF11, SYK, PTPN11, NFATC1
9wdha syndrome10.5CALCA
10paget's disease of bone10.5CALCA
11osteofibrous dysplasia10.5GNAS
12osteitis fibrosa10.5GNAS
13leopard syndrome10.4PTPN11
14paget disease, juvenile10.4TNFSF11, CALCA
15multiple myeloma10.4FGFR3, TNFSF11
16fibrous dysplasia10.4
17pigmented villonodular synovitis10.4CSF1
18multinodular goiter10.4GNAS, CALCA
19pseudohypoparathyroidism10.3GNAS, CALCA
20ramon syndrome10.3
21thyroid hurthle cell carcinoma10.3CALCA, FGFR3, GNAS
22osteoporosis, postmenopausal10.3CALCA, TNFSF11
23parathyroid adenoma10.3GNAS, CALCA
24bladder carcinoma10.2CSF1, FGFR3, SRC
25gingivitis10.2
26fibromatosis10.2
27neurofibromatosis-noonan syndrome10.2NF1, PTPN11
28skeletal dysplasia multi-gene panels10.2GNAS, FGFR3
29hypercalcemia10.2SRC, TNFSF11, CALCA, CSF1
30neurofibromatosis10.1
31multiple endocrine neoplasia type 2a10.1CALCA, NF1
32juvenile myelomonocytic leukemia10.1NF1, PTPN11
33brachydactyly10.1GNAS, FGFR3
34hematologic cancer10.1PTPN11, CSF1, SYK
35osteopetrosis10.1TNFSF11, NFATC1, CSF1, SRC
36osteoporosis10.1TNFSF11, NFATC1, CALCA, CSF1
37factor v leiden thrombophilia10.1SYK, PTPN11, TNFSF11, GNAS
38aneurysmal bone cysts10.1
39aneurysm10.1
40multiple endocrine neoplasia10.0NF1, CALCA, GNAS
41wiskott-aldrich syndrome10.0SYK, SRC, VAV1
42pdgfrb-associated chronic eosinophilic leukemia10.0CSF1, PTPN11, NF1
43secondary syphilis10.0TNFSF11, SRC, CSF1, CALCA, NFATC1
44prostate cancer10.0FGFR3, PTPN11, TNFSF11, GNAS, SRC
45myelodysplastic syndromes10.0CSF1, PTPN11, NF1
46neuroendocrine tumor9.9CALCA, SRC, GNAS, NF1
47pheochromocytoma9.9CALCA, NF1, GNAS, SRC
48influenza9.9PTPN11, SRC, NF1
49craniosynostosis9.9
50ectodermal dysplasia9.9

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:

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

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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:

32
Bone, Testes, B cells

Animal Models for Cherubism or affiliated genes

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MGI Mouse Phenotypes related to Cherubism:

36 (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 220)
idTitleAuthorsYear
1
Cherubism with multiple dental abnormalities: a rare presentation. (25301429)
2014
2
Non-hereditary cherubism. (24959043)
2014
3
Cherubism: A rare case report. (25097445)
2014
4
Enhanced TLR-MYD88 signaling stimulates autoinflammation in SH3BP2 cherubism mice and defines the etiology of cherubism. (25220465)
2014
5
Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life. (23298620)
2013
6
Mutations of the SH3BP2 gene in 2 families of cherubism. (22795151)
2012
7
The surgical and orthodontic management of cherubism in a growing child. (21676623)
2012
8
Clinical and radiological features of nonfamilial cherubism: A case report. (23049582)
2012
9
Loss of Tankyrase-mediated destruction of 3BP2 is the underlying pathogenic mechanism of cherubism. (22153076)
2011
10
SH3BP2-encoding exons involved in cherubism are not associated with central giant cell granuloma. (21680150)
2011
11
Enhancement of B-cell receptor signaling by a point mutation of adaptor protein 3BP2 identified in human inherited disease cherubism. (21794028)
2011
12
Treatment of cherubism with salmon calcitonin: a case report. (21912506)
2011
13
Increased expression of NFATc1 in giant cell lesions of the jaws, cherubism and brown tumor of hyperparathyroidism. (22866121)
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
Jawing about TNF: new hope for cherubism. (17218248)
2007
21
Identification of a novel mutation of SH3BP2 in cherubism and demonstration that SH3BP2 mutations lead to increased NFAT activation. (16786512)
2006
22
Clinicopathologic study of 24 cases of cherubism. (16053841)
2005
23
Aggressive behaviour of cherubism in a teenager: 4-years of clinical follow-up associated with radiographic and histological features. (16120883)
2005
24
Cherubism: clinical evidence and therapy. (12621291)
2003
25
An extreme case of cherubism. (11883969)
2002
26
Cherubism. (23119899)
2002
27
Cherubism--clinical picture and treatment. (11355438)
2001
28
Orbital involvement in cherubism. (11272784)
2001
29
Aggressive form of cherubism: report of a case. (10716121)
2000
30
Cherubism: a 36-year long-term follow-up of 2 generations in different families and review of the literature. (11113824)
2000
31
Familial craniofacial fibrous dysplasia: absence of linkage to GNAS1 and the gene for cherubism. (11073546)
2000
32
Cherubism: clinicopathologic features. (10450884)
1999
33
Cherubism: a study of three generations. (11507493)
1998
34
Cherubism: a radiological and clinical presentation. (9763913)
1998
35
Imaging quiz case 2. Cherubism. (9006516)
1997
36
Cherubism: presentation of a case. (9188969)
1997
37
Cherubism: report of an aggressive case and review of the literature. (8492214)
1993
38
Cherubism: diagnosis, treatment, and comparison with central giant cell granulomas and giant cell tumors. (1545971)
1992
39
The computed tomographic appearances of cherubism. (3823963)
1987
40
Cherubism: two case reports and a review of the literature. (3466413)
1986
41
An unusually extensive case of cherubism. (3457129)
1986
42
Cherubism--a case report. (3759886)
1986
43
Cherubism, gingival fibromatosis, epilepsy, and mental deficiency (Ramon syndrome) with juvenile rheumatoid arthritis. (3789007)
1986
44
Cherubism: report of a nonfamilial case. (3862707)
1985
45
Surgical and pathological considerations in cherubism. (6807908)
1981
46
Cherubism: a study of twenty cases from one family. (285398)
1979
47
Cherubism--an initial unilateral presentation. (280369)
1978
48
Non familial cherubism: report of two cases. (4515489)
1973
49
Cherubism. The hereditary form of fibrous dysplasia localized to the jaws. (5150866)
1971
50
Cherubism: an analysis of treatment. (5778235)
1969

Variations for Cherubism

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UniProtKB/Swiss-Prot genetic disease variations for Cherubism:

64
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 Name 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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Expression patterns in normal tissues for genes affiliated with Cherubism

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/GeneDecks:

(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 cells37
9.7VAV1, PTPN11, SH3BP2
59.6PTPN11, VAV1, TNFSF11
69.6PTPN11, VAV1, SRC
7
Show member pathways
Development Flt3 signaling60
9.6PTPN11, VAV1, SRC
8
Show member pathways
Signaling events mediated by Stem cell factor receptor (c-Kit)37
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 Pathway37
Development Prolactin receptor signaling60
Leptin signaling pathway37
9.4PTPN11, VAV1, SRC, TNFSF11
14
Show member pathways
Apoptosis and survival BAD phosphorylation60
Development Alpha 2 adrenergic receptor activation of ERK60
Chemotaxis CXCR4 signaling pathway60
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 pathways60
Immune response IL 1 signaling pathway60
8.8NFATC1, SYK, SRC, PTPN11
24
Show member pathways
Immune response BCR pathway60
Fc-epsilon receptor I signaling in mast cells37
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 signaling60
Development ACM2 and ACM4 activation of ERK60
Cell adhesion Integrin inside out signaling60
Development G Proteins mediated regulation MARK ERK signaling60
Signal transduction IP3 signaling60
Development Angiotensin signaling via PYK260
Development EPO induced MAPK pathway60
8.7VAV1, SYK, SRC, GNAS
30
Show member pathways
BCR signaling pathway37
TCR Signaling Pathway37
8.7NFATC1, SYK, PTPN11, VAV1
31
Show member pathways
8.7SYK, NFAT5, NFATC1, VAV1
32
Show member pathways
Immune response T cell receptor signaling pathway60
Immune response CD28 signaling60
Immune response ICOS pathway in T helper cell60
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 Pathway37
Apoptosis and survival APRIL and BAFF signaling60
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 cells60
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

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Compounds related to Cherubism according to GeneCards/GeneDecks:

(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 61 24 1112.8CSF1, TNFSF11, SRC, CALCA
10echistatin449.7SRC, PTPN11
11phosphatidylinositol-3,4,5-trisphosphate44 2410.7CSF1, PTPN11, VAV1, SRC
12indomethacin44 28 61 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 61 1111.4SRC, SYK, VAV1
23adenylate449.2GNAS, SRC, CSF1, CALCA, NF1
24cyclosporin a44 28 6111.2CALCA, NFATC1, TNFSF11, VAV1, SRC, NFAT5
25herbimycin a44 6110.1VAV1, 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 6110.0PTPN11, 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

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Cellular components related to Cherubism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1pericentriolar materialGO:0002429.6TNKS, TNKS2
2nuclear chromosome, telomeric regionGO:0007849.6TNKS2, TNKS
3lysosomeGO:0057649.5FGFR3, SRC, USP6
4perinuclear region of cytoplasmGO:0484718.7GNAS, TNKS2, CSF1, FGFR3
5cytosolGO:0058297.3GNAS, PTPN11, RNF146, VAV1, SRC, SYK
6nucleusGO:0056347.3GNAS, TNKS, TNKS2, PTPN11, RNF146, SRC
7cytoplasmGO:0057377.3NF1, USP6, GNAS, TNKS2, TNFSF11, PTPN11
8plasma membraneGO:0058867.1USP6, GNAS, VAV1, SRC, SYK, CSF1

Biological processes related to Cherubism according to GeneCards/GeneDecks:

(show all 36)
idNameGO IDScoreTop Affiliating Genes
1osteoclast proliferationGO:00215810.3TNFSF11, CSF1
2monocyte chemotaxisGO:00254810.3CALCA, TNFSF11
3positive regulation of macrophage differentiationGO:04565110.2CALCA, CSF1
4branching involved in mammary gland duct morphogenesisGO:06044410.2SRC, CSF1
5positive regulation of adenylate cyclase activityGO:04576210.2NF1, CALCA
6bone resorptionGO:04545310.2TNFSF11, SRC
7negative regulation of astrocyte differentiationGO:04871210.2FGFR3, NF1
8regulation of bone resorptionGO:04512410.2SRC, NF1
9negative regulation of osteoclast differentiationGO:04567110.1NF1, CALCA
10positive regulation of osteoclast differentiationGO:04567210.0CSF1, TNFSF11, GNAS
11osteoclast differentiationGO:03031610.0NFATC1, CSF1, TNFSF11
12T cell costimulationGO:03129510.0SRC, VAV1, PTPN11
13positive regulation of telomere maintenance via telomeraseGO:0322129.9TNKS, TNKS2
14protein auto-ADP-ribosylationGO:0702139.9TNKS2, TNKS
15phosphatidylinositol-mediated signalingGO:0480159.9PTPN11, VAV1, FGFR3
16protein localization to chromosome, telomeric regionGO:0701989.9TNKS, TNKS2
17positive regulation of Ras GTPase activityGO:0323209.9NF1, GNAS
18cognitionGO:0508909.8GNAS, NF1
19positive regulation of bone resorptionGO:0457809.7TNFSF11, SYK
20protein ADP-ribosylationGO:0064719.7TNKS, TNKS2
21heart developmentGO:0075079.7PTPN11, NFATC1, NF1
22endochondral ossificationGO:0019589.7FGFR3, GNAS
23regulation of multicellular organism growthGO:0400149.6PTPN11, TNKS2
24Fc-gamma receptor signaling pathway involved in phagocytosisGO:0380969.4SYK, SRC, VAV1
25leukocyte cell-cell adhesionGO:0071599.3CALCA, SYK
26protein polyubiquitinationGO:0002099.3UBC, TNKS2, TNKS
27Wnt signaling pathwayGO:0160559.3TNKS, TNKS2, RNF146
28fibroblast growth factor receptor signaling pathwayGO:0085439.3PTPN11, VAV1, SRC, UBC, FGFR3
29epidermal growth factor receptor signaling pathwayGO:0071739.3PTPN11, VAV1, SRC, UBC, FGFR3
30neurotrophin TRK receptor signaling pathwayGO:0480119.3PTPN11, VAV1, SRC, UBC, FGFR3
31protein autophosphorylationGO:0467779.3FGFR3, SYK, SRC
32positive regulation of transcription from RNA polymerase II promoterGO:0459449.1TNKS, TNFSF11, NFAT5, NFATC1, UBC
33positive regulation of canonical Wnt signaling pathwayGO:0902639.0FGFR3, SRC, RNF146, TNKS2, TNKS
34blood coagulationGO:0075968.9GNAS, PTPN11, VAV1, SRC, SYK
35Fc-epsilon receptor signaling pathwayGO:0380958.4PTPN11, VAV1, SYK, NFATC1, UBC, FGFR3
36innate immune responseGO:0450877.8PTPN11, VAV1, SRC, SYK, CSF1, NFATC1

Molecular functions related to Cherubism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1SH3/SH2 adaptor activityGO:0050709.7SH3BP2, PTPN11, SRC
2NAD+ ADP-ribosyltransferase activityGO:0039509.6TNKS2, TNKS
3protein tyrosine kinase activityGO:0047138.9FGFR3, SYK, SRC
4protein bindingGO:0055154.4FGFR3, USP6, GNAS, TNKS, TNKS2, SH3BP2

Products for genes affiliated with Cherubism

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  • Antibodies
  • Proteins
  • Lysates

Sources for Cherubism

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet