CRBM
MCID: CHR003
MIFTS: 68

Cherubism (CRBM) malady

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

Summaries for Cherubism

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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: Cherubism, also known as CRBM, is related to noonan syndrome and giant cell tumor, and has symptoms including abnormal cry/voice/phonation disorder/nasal speech, apnea/sleep apnea and feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia. An important gene associated with Cherubism is SH3BP2 (SH3-domain binding protein 2), and among its related pathways are PECAM1 interactions and Signal regulatory protein (SIRP) family interactions. The compounds pge2 and ibandronate have been mentioned in the context of this disorder. Affiliated tissues include bone, b cells and testes, and related mouse phenotypes are embryogenesis and muscle.

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:63 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, 60UMLS, 34MeSH, 39NCIt, 56SNOMED-CT, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

cherubism 8 9 19 42 20 21 46 10 44 48 60
crbm 42 48
charcot-marie-tooth disease, x-linked recessive, 5 60
familial multilocular cystic disease of the jaws 21
familial benign giant-cell tumor of the jaw 21
familial fibrous dysplasia of jaw 21


External Ids:

Disease Ontology8 DOID:1856
MeSH34 D002636
OMIM46 118400
NCIt39 C84630
SNOMED-CT56 53432004, 76098004
MESH via Orphanet35 D002636
ICD10 via Orphanet26 K10.8
SNOMED-CT via Orphanet57 76098004
UMLS via Orphanet61 C0008029

Related Diseases for Cherubism

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Cherubism via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 111)
idRelated DiseaseScoreTop Affiliating Genes
1noonan syndrome30.2PTPN11
2giant cell tumor30.1TNFSF11, CSF1, CALCA
3giant cell reparative granuloma30.0SH3BP2, CALCA
4rheumatoid arthritis29.7CSF1, TNFSF11, SYK, NFATC1, PTPN11
5arthritis29.7CALCA, CSF1, TNFSF11, SYK, SRC, PTPN11
6charcot-marie-tooth disease, x-linked recessive, 510.7
7chediak-higashi syndrome10.5
8charcot-marie-tooth neuropathy x type 510.5
9x-linked charcot-marie-tooth disease type 510.5
10prps1-related charcot-marie-tooth neuropathy x type 510.5
11charcot-marie-tooth disease, axonal, type 2q10.5
12fibrous dysplasia10.4
13gingivitis10.2
14ramon syndrome10.2
15neurofibromatosis10.1
16epilepsy syndrome10.0
17mucopolysaccharidosis ih10.0
18hepatitis b10.0SRC
19paget's disease of bone10.0CALCA
20lung cancer10.0SRC
21chondrosarcoma10.0FGFR3
22colorectal cancer10.0SRC, FGFR3
23sapho syndrome10.0PSTPIP2
24paget disease, juvenile10.0CALCA, TNFSF11
25congenital heart defect10.0PTPN11
26osteosarcoma10.0CSF1, TNFSF11
27pancreatic cancer10.0SRC, VAV1
28osteomyelitis10.0TNFSF11, PSTPIP2
29pseudohypoparathyroidism10.0GNAS, CALCA
30osteochondroma10.0FGFR3
31osteitis fibrosa10.0GNAS
32cystic fibrosis10.0SRC
33sarcoma10.0SRC, CSF1
34multiple myeloma10.0TNFSF11, FGFR3
35bladder carcinoma10.0CSF1, FGFR3, SRC
36myeloid leukemia10.0PTPN11, SRC, CSF1
37short stature10.0FGFR3, PTPN11, GNAS
38developmental disabilities10.0MID1, FGFR3, PTPN11
39neuroendocrine tumor10.0CALCA, GNAS, SRC
40hypercalcemia10.0CALCA, CSF1, TNFSF11, SRC
41thyroid cancer10.0FGFR3, GNAS, CALCA
42osteopetrosis10.0CSF1, TNFSF11, NFATC1, SRC
43osteoporosis10.0CALCA, CSF1, TNFSF11, NFATC1
44wiskott-aldrich syndrome10.0SYK, VAV1, SRC
45secondary syphilis10.0CALCA, CSF1, TNFSF11, NFATC1, SRC
46factor v leiden thrombophilia10.0GNAS, TNFSF11, SYK, PTPN11
47myeloma10.0CSF1, TNFSF11, SYK, VAV1, FGFR3
48leukemia10.0CSF1, SYK, VAV1, FGFR3, SRC, PTPN11
49burkitt's lymphoma10.0GNAS, SYK, VAV1, FGFR3, SRC, PTPN11
50hematologic cancer10.0PTPN11, SYK, CSF1

Graphical network of the top 20 diseases related to Cherubism:



Diseases related to cherubism

Clinical Features for Cherubism

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Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

118400

Clinical synopsis from OMIM:

118400

Symptoms:

48 (show all 13)
  • abnormal cry/voice/phonation disorder/nasal speech
  • apnea/sleep apnea
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • visual loss/blindness/amblyopia
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • proptosis/exophthalmos
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • anodontia/oligodontia/hypodontia
  • tooth shape anomaly
  • autosomal dominant inheritance
  • bone/osseous neoplasm/tumor/carcinoma/cancer
  • enlargment of jaw/large jaw
  • high cheek bones

Drugs & Therapeutics for Cherubism

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Cherubism

Drug clinical trials:

Search ClinicalTrials for Cherubism

Search NIH Clinical Center for Cherubism

Search CenterWatch for Cherubism

Genetic Tests for Cherubism

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Sources:
20GeneTests
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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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32MalaCards
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MalaCards organs/tissues related to Cherubism:

32
Bone, B cells, Testes

Animal Models for Cherubism or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Cherubism:

36 (show all 19)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053809.3TNKS2, FAT4, MID1, VAV1
2MP:00053699.3CSF1, SH3BP2, NFAT5, MID1, PTPN11
3MP:00053779.0GNAS, CSF1, FAT4, PSTPIP2, FGFR3, PTPN11
4MP:00053828.7GNAS, CSF1, TNFSF11, PSTPIP2, SH3BP2, NFATC1
5MP:00030128.6PTPN11, FGFR3, SYK, FAT4, CSF1, GNAS
6MP:00053708.6GNAS, CSF1, SYK, SH3BP2, GRB10, NFATC1
7MP:00107718.5CALCA, GNAS, CSF1, TNFSF11, PSTPIP2, SH3BP2
8MP:00036318.4GNAS, CSF1, FAT4, PSTPIP2, SH3BP2, MID1
9MP:00053678.3CALCA, GNAS, FAT4, SYK, NFAT5, FGFR3
10MP:00053908.1GNAS, CSF1, TNFSF11, FAT4, PSTPIP2, SYK
11MP:00053717.9GNAS, CSF1, TNFSF11, FAT4, PSTPIP2, SYK
12MP:00053887.8CALCA, GNAS, CSF1, FAT4, SYK, SH3BP2
13MP:00053857.8CALCA, GNAS, CSF1, TNKS2, FAT4, SYK
14MP:00053767.7SYK, TNFSF11, CSF1, GNAS, CALCA, SH3BP2
15MP:00053977.7SYK, PSTPIP2, TNFSF11, CSF1, GNAS, SH3BP2
16MP:00053877.7SYK, PSTPIP2, TNFSF11, CSF1, GNAS, SH3BP2
17MP:00053787.5GNAS, CSF1, TNFSF11, TNKS2, FAT4, GRB10
18MP:00053846.9PSTPIP2, FAT4, TNKS2, TNFSF11, CSF1, GNAS
19MP:00107686.2PTPN11, CALCA, GNAS, CSF1, TNFSF11, TNKS2

Publications for Cherubism

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Sources:
50PubMed
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Articles related to Cherubism:

(show top 50)    (show all 207)
idTitleAuthorsYear
1
Clinical and imagiological findings of central giant cell lesion and cherubism. (23657418)
2013
2
Variable expressivity familial cherubism: woman transmitting cherubism without suffering the disease. (24382142)
2013
3
Analysis of giant cell tumour of bone cells for Noonan syndrome/cherubism-related mutations. (22725657)
2013
4
Mutations of the SH3BP2 gene in 2 families of cherubism. (22795151)
2012
5
Aggressive form of cherubism. (22439132)
2012
6
Loss of Tankyrase-mediated destruction of 3BP2 is the underlying pathogenic mechanism of cherubism. (22153076)
2011
7
SH3BP2-encoding exons involved in cherubism are not associated with central giant cell granuloma. (21680150)
2011
8
Enhancement of B-cell receptor signaling by a point mutation of adaptor protein 3BP2 identified in human inherited disease cherubism. (21794028)
2011
9
Ineffectiveness of tumor necrosis factor-alpha inhibition in association with bisphosphonates for the treatment of cherubism. (21345303)
2011
10
Cherubism: clinicoradiographic features and treatment. (24421967)
2010
11
Fine needle aspiration cytologic features of Cherubism: a case report. (20715662)
2010
12
Postpubertal nonfamilial cherubism and teeth transposition. (20856051)
2010
13
Familial cherubism: the experience of the Moscow Central Institute for Stomatology and Maxillo-Facial Surgery. (19038533)
2009
14
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
15
Adaptor protein 3BP2 and cherubism. (18336269)
2008
16
Jawing about TNF: new hope for cherubism. (17218248)
2007
17
A clinico-pathologic correlation. Cherubism. (18069593)
2007
18
Aggressive case of cherubism: 17-year follow-up. (17360048)
2007
19
Testing your diagnostic skills. Case no. 2: cherubism. (16602153)
2006
20
Oral diagnosis. Symmetrical enlargement of the maxilla and mandible. Cherubism. (15206263)
2004
21
Cherubism: review of four affected members in a Kuwaiti family. (15344997)
2004
22
Cherubism in siblings: a case report. (12622878)
2003
23
Giant cell reparative granuloma of the orbit associated with cherubism. (13129888)
2003
24
Aggressive form of cherubism: report of a case. (10716121)
2000
25
Case study. Cherubism. (10825895)
1999
26
The gene for cherubism maps to chromosome 4p16. (10364528)
1999
27
Imaging quiz case 2. Cherubism. (9006516)
1997
28
Cherubism in a patient with Noonan's syndrome. (8604072)
1996
29
Cherubism (20301316)
1993
30
Vascular transformation in cherubism. (7688886)
1993
31
Cherubism: diagnosis, treatment, and comparison with central giant cell granulomas and giant cell tumors. (1545971)
1992
32
Cherubism: report of a case showing regression without treatment. (1542075)
1992
33
Cherubism in a patient with Noonan syndrome: report of a case. (1886012)
1991
34
Cherubism. (2093680)
1990
35
The use of liposuction to contour cherubism. (2236329)
1990
36
Cherubism: a report of a case with an unusual post-extraction complication. (3162374)
1988
37
Cherubism: report of three cases. (3476535)
1987
38
Bone scintigraphy. Cherubism. (4075690)
1985
39
Cherubism. (3920157)
1985
40
Cherubism. (4364725)
1974
41
Non familial cherubism: report of two cases. (4515489)
1973
42
Cherubism. A case report. (4516141)
1973
43
Cherubism. (4199170)
1972
44
Cherubism. (5474754)
1970
45
Cherubism: an analysis of treatment. (5778235)
1969
46
Cherubism-fibrocystic dysplasia of the jaws. (5601707)
1967
47
Bilateral giant cell reparative granulomas with appearance of cherubism: report of case. (5233347)
1967
48
FAMILIAL FIBROUS DYSPLASIA OF THE JAWS (CHERUBISM): REPORT OF CASE. (14329537)
1965
49
Cherubism: report of three cases. (13680915)
1961
50
Cherubism--familial fibrous dysplasia of the jaws. (14778852)
1950

Genetic Variations for Cherubism

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Sources:
62UniProtKB/Swiss-Prot
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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

Expression for genes affiliated with Cherubism

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
53Reactome, 37NCBI BioSystems Database, 12EMD Millipore, 51QIAGEN, 29KEGG, 52R&D Systems, 4Cell Signaling Technology
See all sources

Pathways related to Cherubism according to GeneCards/GeneDecks:

(show all 48)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1SRC, PTPN11
210.1SRC, PTPN11
3
Hide members
10.1PTPN11, SRC
410.1PTPN11, SRC
5
Hide members
9.9SH3BP2, VAV1, PTPN11
69.9PTPN11, VAV1, TNFSF11
79.9VAV1, SRC, PTPN11
89.8PTPN11, SRC, CSF1
9
Hide members
9.8PTPN11, FGFR3, GRB10
109.8NFATC1, NFAT5, VAV1
119.8GRB10, SRC, PTPN11
129.8GRB10, SRC, PTPN11
139.8PTPN11, SRC, GRB10
149.8SYK, SRC
15
Development FGF-family signaling
Hide members
9.7VAV1, FGFR3, SRC, PTPN11
16
Development Prolactin receptor signaling
Hide members
9.7PTPN11, SRC, VAV1, TNFSF11
17
Hide members
9.6SRC, FGFR3, NFAT5, NFATC1
18
Development Dopamine D2 receptor transactivation of EGFR
Hide members
9.6GNAS, VAV1, SRC, PTPN11
199.6GRB10, VAV1, SRC, PTPN11
20
Hide members
9.6PTPN11, SRC, VAV1, GRB10
219.6SYK, VAV1, PTPN11
22
Hide members
9.6PTPN11, VAV1, SYK
23
Hide members
9.5VAV1, NFATC1, SYK
24
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9.5CSF1, TNFSF11, FGFR3, SRC, PTPN11
25
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9.4PTPN11, SRC, FGFR3, VAV1, GRB10
26
Hide members
9.4PTPN11, FGFR3, VAV1, SYK
279.4SYK, VAV1, SRC, PTPN11
28
Hide members
9.4PTPN11, SRC, VAV1, SYK
29
Hide members
9.3SYK, NFATC1, SRC, PTPN11
30
Hide members
9.3PTPN11, VAV1, NFATC1, SYK
31
Hide members
9.3SYK, NFATC1, NFAT5, VAV1
32
Immune response NFAT in immune response
Hide members
9.3VAV1, NFAT5, NFATC1, SYK
339.3CSF1, TNFSF11, SYK, NFATC1
349.3SRC, FGFR3, GRB10, SYK
35
Hide members
9.3GNAS, SYK, VAV1, SRC
36
Hide members
9.2CSF1, TNFSF11, NFATC1, NFAT5, FGFR3, SRC
37
Hide members
9.2SYK, VAV1, FGFR3, SRC, PTPN11
389.1SYK, SH3BP2, NFATC1, VAV1, PTPN11
39
Hide members
9.1SYK, NFATC1, VAV1, FGFR3, PTPN11
40
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9.1SYK, NFATC1, NFAT5, FGFR3, SRC
41
Hide members
9.1SRC, NFAT5, NFATC1, SYK, TNFSF11
42
Hide members
9.1SYK, NFATC1, NFAT5, VAV1, SRC
43
Hide members
9.1SYK, NFATC1, NFAT5, VAV1, SRC
44
Hide members
8.9SYK, SH3BP2, NFATC1, VAV1, SRC, PTPN11
45
Hide members
8.9CSF1, TNFSF11, SYK, VAV1, FGFR3, SRC
46
Hide members
8.9SYK, NFATC1, NFAT5, VAV1, FGFR3, SRC
47
Hide members
8.8SYK, GRB10, NFATC1, NFAT5, FGFR3, SRC
48
Hide members
8.4CALCA, GNAS, SYK, GRB10, VAV1, FGFR3

Compounds for genes affiliated with Cherubism

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Sources:
44Novoseek, 11DrugBank, 28IUPHAR, 49PharmGKB, 59Tocris Bioscience, 24HMDB
See all sources

Compounds related to Cherubism according to GeneCards/GeneDecks:

(show all 43)
idCompoundScoreTop Affiliating Genes
1pge24410.6SRC
2ibandronate44 1111.5TNFSF11
3glutamate4410.5GNAS
4strontium ranelate4410.4CALCA, TNFSF11
5denosumab44 1111.4CALCA, TNFSF11
6teriparatide44 1111.3CALCA, TNFSF11
7zoledronic acid4410.3SRC, TNFSF11, CALCA
8vitamin k24410.3CALCA, CSF1, TNFSF11
9tartrate4410.3CALCA, CSF1, TNFSF11
10raloxifene44 28 49 1113.2CALCA, TNFSF11, SRC
11echistatin4410.2SRC, PTPN11
12indomethacin44 59 28 1113.0SRC, CSF1, CALCA
13phosphatidylinositol-3,4,5-trisphosphate44 2411.0CSF1, VAV1, SRC, PTPN11
14calcitriol44 59 11 2412.9CALCA, CSF1, TNFSF11, SRC
15rantes449.9PTPN11, SYK, CSF1
16phenylarsine oxide449.9PTPN11, SRC, SYK
174-amino-5-(4-chlorophenyl)-7-(t-butyl)pyrazolo[3,4-d]pyrimidine449.9SYK, SRC
18piceatannol44 59 1111.9SRC, VAV1, SYK
19gp 130449.9CSF1, TNFSF11, VAV1, SRC, PTPN11
201,25 dihydroxy vitamin d3449.8TNFSF11, CSF1, CALCA
21guanine44 11 2411.8CALCA, GNAS, VAV1, FGFR3, SRC
22herbimycin a44 5910.7SYK, VAV1, SRC, PTPN11
23cyclosporin a44 28 5911.6CALCA, TNFSF11, NFATC1, NFAT5, VAV1, SRC
24imatinib44 49 1111.6CSF1, SYK, FGFR3, SRC, PTPN11
25acetylcholine44 49 28 11 2413.5CALCA, CSF1, SRC, PTPN11
26sb 20358044 5910.5TNFSF11, SYK, NFATC1, SRC, PTPN11
27n acetylcysteine449.5CSF1, TNFSF11, SYK, SRC
28inositol449.5CSF1, SYK, NFAT5, SRC, PTPN11
29ly294002449.5CSF1, TNFSF11, SYK, SRC, PTPN11
30wortmannin449.5CSF1, SYK, VAV1, SRC, PTPN11
31phenylalanine449.4CSF1, SYK, VAV1, FGFR3, SRC, PTPN11
32phosphotyrosine449.4CSF1, SYK, VAV1, FGFR3, SRC, PTPN11
33rapamycin449.4PTPN11, SRC, TNFSF11, CSF1
34histamine44 28 2411.3SRC, SYK, CSF1, CALCA
35h2o2449.2CSF1, TNFSF11, SYK, SRC, PTPN11
36dexamethasone44 49 28 1112.1CSF1, TNFSF11, SYK, VAV1, FGFR3, SRC
37threonine449.1GNAS, TNFSF11, SYK, VAV1, FGFR3, SRC
38phosphatidylinositol449.1CSF1, TNFSF11, SYK, NFATC1, VAV1, SRC
39vegf448.9PTPN11, CALCA, CSF1, TNFSF11, SYK, GRB10
40cysteine448.9GNAS, CSF1, TNFSF11, SYK, VAV1, FGFR3
41serine448.8GNAS, CSF1, TNFSF11, SYK, VAV1, FGFR3
42calcium44 49 11 2411.6CALCA, GNAS, TNFSF11, SYK, NFATC1, NFAT5
43tyrosine448.6GNAS, CSF1, TNFSF11, SYK, GRB10, VAV1

GO Terms for genes affiliated with Cherubism

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Sources:
16Gene Ontology
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Cellular components related to Cherubism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:0057377.7GNAS, TNFSF11, TNKS2, STRN, USP6, GRB10
2cytosolGO:0058297.5PTPN11, GNAS, PSTPIP2, SYK, GRB10, NFATC1

Biological processes related to Cherubism according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1osteoclast proliferationGO:00215810.3TNFSF11, CSF1
2positive regulation of macrophage differentiationGO:04565110.1CALCA, CSF1
3monocyte chemotaxisGO:00254810.1TNFSF11, CALCA
4osteoclast differentiationGO:03031610.1CSF1, TNFSF11, NFATC1
5positive regulation of osteoclast differentiationGO:04567210.1TNFSF11, CSF1, GNAS
6T cell costimulationGO:03129510.0PTPN11, SRC, VAV1
7fibroblast growth factor receptor signaling pathwayGO:0085439.9PTPN11, SRC, FGFR3, VAV1
8epidermal growth factor receptor signaling pathwayGO:0071739.9PTPN11, SRC, FGFR3, VAV1
9peptidyl-tyrosine phosphorylationGO:0181089.8SYK, FGFR3, SRC
10neurotrophin TRK receptor signaling pathwayGO:0480119.8PTPN11, SRC, FGFR3, VAV1
11branching involved in mammary gland duct morphogenesisGO:0604449.7SRC, CSF1
12positive regulation of canonical Wnt receptor signaling pathwayGO:0902639.7SRC, RNF146, FGFR3, TNKS2
13positive regulation of bone resorptionGO:0457809.7SYK, TNFSF11
14Fc-gamma receptor signaling pathway involved in phagocytosisGO:0380969.5SYK, VAV1, SRC
15Fc-epsilon receptor signaling pathwayGO:0380959.4SYK, NFATC1, VAV1, FGFR3, PTPN11
16blood coagulationGO:0075969.3GNAS, SYK, VAV1, SRC, PTPN11
17innate immune responseGO:0450879.0CSF1, SYK, NFATC1, VAV1, FGFR3, SRC

Molecular functions related to Cherubism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein tyrosine kinase activityGO:0047139.6SRC, FGFR3, SYK
2SH3/SH2 adaptor activityGO:0050709.3SH3BP2, GRB10, SRC, PTPN11
3protein bindingGO:0055156.0PTPN11, CALCA, GNAS, TNKS2, FAT4, STRN

Products for genes affiliated with Cherubism

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cherubism

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet