CRBM
MCID: CHR003
MIFTS: 58

Cherubism (CRBM)

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

Aliases & Classifications for Cherubism

MalaCards integrated aliases for Cherubism:

Name: Cherubism 57 12 75 24 53 25 59 74 37 13 55 44 15 72
Crbm 57 53 59 74
Familial Multilocular Cystic Disease of the Jaws 25
Familial Benign Giant-Cell Tumor of the Jaw 25
Familial Fibrous Dysplasia of Jaw 25

Characteristics:

Orphanet epidemiological data:

59
cherubism
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset 14 months to 4 years of age
progresses through puberty, then stabilizes
may regress in adulthood


HPO:

32
cherubism:
Inheritance autosomal dominant inheritance
Onset and clinical course childhood onset


GeneReviews:

24
Penetrance Penetrance has not been systematically studied in cherubism. a previous report of reduced penetrance in females compared to males [anderson &mcclendon 1962] was subsequently shown to have bias in terms of how unaffected status was ascribed to the adult females [reichenberger et al 2012].

Classifications:



External Ids:

Disease Ontology 12 DOID:1856
OMIM 57 118400
KEGG 37 H00497
MeSH 44 D002636
NCIt 50 C84630
SNOMED-CT 68 53432004 76098004
ICD10 33 M27.8
MESH via Orphanet 45 D002636
ICD10 via Orphanet 34 K10.8
UMLS via Orphanet 73 C0008029
Orphanet 59 ORPHA184
MedGen 42 C0008029
UMLS 72 C0008029

Summaries for Cherubism

Genetics Home Reference : 25 Cherubism is a disorder characterized by abnormal bone tissue in the lower part of the face. Beginning in early childhood, both the lower jaw (the mandible) and the upper jaw (the maxilla) become enlarged as bone is replaced with painless, cyst-like growths. These growths give the cheeks a swollen, rounded appearance and often interfere with normal tooth development. In some people the condition is so mild that it may not be noticeable, while other cases are severe enough to cause problems with vision, breathing, speech, and swallowing. Enlargement of the jaw usually continues throughout childhood and stabilizes during puberty. The abnormal growths are gradually replaced with normal bone in early adulthood. As a result, many affected adults have a normal facial appearance. Most people with cherubism have few, if any, signs and symptoms affecting other parts of the body. Rarely, however, this condition occurs as part of another genetic disorder. For example, cherubism can occur with Ramon syndrome, which also involves short stature, intellectual disability, and overgrowth of the gums (gingival fibrosis). Additionally, cherubism has been reported in rare cases of Noonan syndrome (a developmental disorder characterized by unusual facial characteristics, short stature, and heart defects) and fragile X syndrome (a condition primarily affecting males that causes learning disabilities and cognitive impairment).

MalaCards based summary : Cherubism, also known as crbm, is related to bone resorption disease and osteopetrosis. An important gene associated with Cherubism is SH3BP2 (SH3 Domain Binding Protein 2), and among its related pathways/superpathways are Natural killer cell mediated cytotoxicity and Cytokine Signaling in Immune system. Affiliated tissues include bone, testes and heart, and related phenotypes are full cheeks and bone cyst

NIH Rare Diseases : 53 Cherubism is a rare disorder characterized by progressive, painless, bilateral swelling of the jaw during childhood. This fibro-osseous (bone structure) condition is self-limiting, with symptoms typically resolving in adulthood. Diagnosis is based on a combination of clinical signs, family history, radiographic findings (panoramic x-rays, CT scan), biopsy, and genetic testing. Cherubism is inherited in an autosomal dominant fashion and is caused by mutations in the SH3BP2 gene. Treatment tends to be conservative (wait-and-see), with surgery reserved for the most severe cases.

KEGG : 37
Cherubism is an uncommon disorder of the jaws in childhood. The maxillary bones are replaced with pseudocystic osteolytic lesions, affecting dentition. Mutated SH3BP2, which can enhance BCR signaling, is involved in the pathogenesis of cherubism.

UniProtKB/Swiss-Prot : 74 Cherubism: An autosomal dominant syndrome characterized by excessive bone degradation of the upper and lower jaws, which often begins around three years of age. It is followed by development of fibrous tissue masses, which causes a characteristic facial swelling.

Wikipedia : 75 Cherubism is a rare genetic disorder that causes prominence in the lower portion in the face. The name... more...

More information from OMIM: 118400
GeneReviews: NBK1137

Related Diseases for Cherubism

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

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 bone resorption disease 30.8 TNFSF11 NFATC1
2 osteopetrosis 29.1 TNFSF11 SRC CSF1
3 bone disease 28.8 TNFSF11 SRC NFATC1 FGFR3 CSF1
4 ramon syndrome 12.2
5 al gazali khidr prem chandran syndrome 11.6
6 fibrous dysplasia 10.7
7 giant cell reparative granuloma 10.5
8 noonan syndrome 1 10.3
9 triiodothyronine receptor auxiliary protein 10.3
10 giant cell tumor 10.3
11 overgrowth syndrome 10.3
12 gingival fibromatosis 10.3
13 root resorption 10.3
14 fibromatosis 10.3
15 pseudo-turner syndrome 10.3
16 hyperparathyroidism 10.2
17 exophthalmos 10.2
18 neurofibromatosis, type iv, of riccardi 10.2
19 3-methylglutaconic aciduria, type iii 10.2
20 fibroma 10.2
21 gingival overgrowth 10.2
22 villonodular synovitis 10.2 TNFSF11 PTPN11
23 aneurysmal bone cysts 10.1
24 craniosynostosis 10.1
25 hypertrichosis 10.1
26 bone giant cell tumor 10.1
27 ectodermal dysplasia 10.1
28 tooth agenesis 10.1
29 osteogenic sarcoma 10.1
30 treacher collins syndrome 1 10.1
31 bone remodeling disease 10.0 TNFSF11 NFATC1
32 gingival hypertrophy 9.9
33 malignant mesenchymoma 9.9
34 myositis ossificans 9.9
35 juvenile rheumatoid arthritis 9.9
36 periapical periodontitis 9.9
37 periodontitis 9.9
38 neuropathy 9.9
39 rosacea 9.9
40 48,xyyy 9.9
41 arachnoid cysts 9.9
42 congenital hydrocephalus 9.9
43 dandy-walker complex 9.9
44 juvenile ossifying fibroma 9.9
45 odontogenic myxoma 9.9
46 optic nerve disease 9.9
47 ossifying fibroma 9.9
48 ectropion 9.9
49 secondary hyperparathyroidism 9.9
50 synostosis 9.9

Graphical network of the top 20 diseases related to Cherubism:



Diseases related to Cherubism

Symptoms & Phenotypes for Cherubism

Human phenotypes related to Cherubism:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 full cheeks 59 32 hallmark (90%) Very frequent (99-80%) HP:0000293
2 bone cyst 59 32 hallmark (90%) Very frequent (99-80%) HP:0012062
3 broad jaw 59 32 hallmark (90%) Very frequent (99-80%) HP:0012802
4 abnormality of dental morphology 59 32 frequent (33%) Frequent (79-30%) HP:0006482
5 oligodontia 59 32 frequent (33%) Frequent (79-30%) HP:0000677
6 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
7 feeding difficulties in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008872
8 progressive visual loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0000529
9 abnormality of the voice 59 32 occasional (7.5%) Occasional (29-5%) HP:0001608
10 proptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000520
11 obstructive sleep apnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002870
12 upper airway obstruction 59 32 occasional (7.5%) Occasional (29-5%) HP:0002781
13 abnormality of the dentition 59 Frequent (79-30%)
14 visual impairment 59 Occasional (29-5%)
15 reduced visual acuity 32 HP:0007663
16 striae distensae 32 HP:0001065
17 round face 32 HP:0000311
18 optic neuropathy 32 HP:0001138
19 constriction of peripheral visual field 32 HP:0001133
20 abnormality of the mandible 59 Very frequent (99-80%)
21 macular scar 32 HP:0200056
22 lower eyelid retraction 32 HP:0030802
23 marcus gunn pupil 32 HP:0200057

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
proptosis
optic neuropathy
lower eyelid retraction
upward displacement of the globes
orbital mass
more
Head And Neck Face:
mandibular enlargement
round face due to facial swelling
broad cheeks due to facial swelling
symmetric, hard, painless, swelling of the jaw region
maxillary enlargement
more
Head And Neck Teeth:
oligodontia
agenesis of teeth
displaced teeth

Skeletal Skull:
loss of bone and replacement by fibrous tissue restricted to jaw
multilocular radiolucencies in the jaw bones
histology shows multiple osteoclast-like cells in a fibrous and cellular stroma

Clinical features from OMIM:

118400

MGI Mouse Phenotypes related to Cherubism:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.11 CSF1 FGFR3 NFATC1 PTPN11 SH3BP2 SRC
2 cellular MP:0005384 10.08 CSF1 FGFR3 NFATC1 PTPN11 SH3BP2 SRC
3 craniofacial MP:0005382 10.07 CSF1 FGFR3 NFATC1 PTPN11 SH3BP2 SRC
4 hematopoietic system MP:0005397 10.04 CSF1 FGFR3 NFATC1 PTPN11 SH3BP2 SRC
5 integument MP:0010771 10.03 CSF1 FGFR3 NFATC1 PTPN11 SH3BP2 SRC
6 behavior/neurological MP:0005386 10.02 CSF1 FGFR3 PTPN11 SRC TNFSF11 TNKS
7 homeostasis/metabolism MP:0005376 10.02 CSF1 FGFR3 NFATC1 PTPN11 SH3BP2 TNFSF11
8 immune system MP:0005387 10 CSF1 FGFR3 NFATC1 PTPN11 SH3BP2 SRC
9 mortality/aging MP:0010768 9.97 CSF1 FGFR3 NFATC1 PTPN11 SH3BP2 SRC
10 limbs/digits/tail MP:0005371 9.95 CSF1 FGFR3 NFATC1 PTPN11 SH3BP2 SRC
11 muscle MP:0005369 9.8 CSF1 NFATC1 PTPN11 SH3BP2 TNFSF11 TNKS
12 no phenotypic analysis MP:0003012 9.73 CSF1 FGFR3 NFATC1 PTPN11 TNFSF11 TNKS
13 respiratory system MP:0005388 9.7 CSF1 FGFR3 NFATC1 PTPN11 SH3BP2 SRC
14 skeleton MP:0005390 9.5 CSF1 FGFR3 NFATC1 PTPN11 SH3BP2 SRC
15 vision/eye MP:0005391 9.1 CSF1 FGFR3 PTPN11 SH3BP2 SRC TNFSF11

Drugs & Therapeutics for Cherubism

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Natural Hisotry of Cherubism Observational Study Completed NCT01916772
2 Identification of Mutations That Lead to Cherubism in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms Recruiting NCT01630447

Search NIH Clinical Center for Cherubism

Cochrane evidence based reviews: cherubism

Genetic Tests for Cherubism

Anatomical Context for Cherubism

MalaCards organs/tissues related to Cherubism:

41
Bone, Testes, Heart, Lymph Node, Salivary Gland, B Cells, Bone Marrow

Publications for Cherubism

Articles related to Cherubism:

(show top 50) (show all 471)
# Title Authors PMID Year
1
Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. 9 38 4 8 71
11381256 2001
2
Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism. 9 38 4 71
12900899 2003
3
Craniosynostosis in cherubism. 9 38 4 8
11186885 2000
4
Optic neuropathy and macular chorioretinal folds caused by orbital cherubism. 38 4 8
12695257 2003
5
Defining a new aggressiveness classification and using NFATc1 localization as a prognostic factor in cherubism. 38 4 6
27498064 2016
6
Cherubism: A Case Report with Surgical Intervention. 38 4 6
27272835 2016
7
Novel mutations in the SH3BP2 gene associated with sporadic central giant cell lesions and cherubism. 9 38 4
19017279 2009
8
SH3BP2 is an activator of NFAT activity and osteoclastogenesis. 9 38 4
18440306 2008
9
Cherubism 38 71
20301316 2007
10
Increased myeloid cell responses to M-CSF and RANKL cause bone loss and inflammation in SH3BP2 "cherubism" mice. 9 38 4
17218256 2007
11
A novel mutation in the SH3BP2 gene causes cherubism: case report. 9 38 4
17147794 2006
12
The gene for cherubism maps to chromosome 4p16.3. 38 8
10364527 1999
13
The gene for cherubism maps to chromosome 4p16. 38 8
10364528 1999
14
Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism. 38 8
8541863 1995
15
Cherubism: a study of twenty cases from one family. 38 8
285398 1979
16
Cherubism. 38 8
5474754 1970
17
Cherubism. A thumbnail sketch of its diagnosis and a conservative method of treatment. 38 8
5213235 1965
18
Bone involvement in monogenic autoinflammatory syndromes. 38 4
28968889 2018
19
Cherubism. A case report. 38 6
27427211 2017
20
Craniofacial and Dental Features in Six Children With Cherubism. 38 4
28857986 2017
21
Cherubism: An Unusual Study With Long-Term Follow-Up. 38 6
27315317 2016
22
A case of cherubism with spondyloarthropathy. 38 4
25960037 2015
23
The calcineurin inhibitor tacrolimus as a new therapy in severe cherubism. 38 4
25491283 2015
24
Cherubism allele heterozygosity amplifies microbe-induced inflammatory responses in murine macrophages. 38 4
25705883 2015
25
Ophthalmic manifestations of cherubism. 38 4
25727591 2015
26
Cherubism: report of three cases and literature review. 38 4
25264591 2015
27
Enhanced TLR-MYD88 signaling stimulates autoinflammation in SH3BP2 cherubism mice and defines the etiology of cherubism. 38 4
25220465 2014
28
Nocturnal mouthpiece ventilation and medical hypnosis to treat severe obstructive sleep apnea in a child with cherubism. 38 4
23129383 2013
29
Autoinflammatory bone disorders. 38 4
23369460 2013
30
Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life. 38 4
23298620 2013
31
Clinical and imagiological findings of central giant cell lesion and cherubism. 38 4
23657418 2013
32
Cherubism: panoramic and CT features in adults. 38 4
24048692 2013
33
Cherubism: best clinical practice. 38 4
22640403 2012
34
The role of SH3BP2 in the pathophysiology of cherubism. 38 4
22640988 2012
35
Pro416Arg cherubism mutation in Sh3bp2 knock-in mice affects osteoblasts and alters bone mineral and matrix properties. 38 4
20117257 2010
36
Identical Mutation in SH3BP2 Gene Causes Clinical Phenotypes with Different Severity in Mother and Daughter - Case Report. 38 4
21045962 2010
37
Familial cherubism: the experience of the Moscow Central Institute for Stomatology and Maxillo-Facial Surgery. 38 4
19038533 2009
38
Cherubism: long-term follow-up of 2 patients in whom it regressed without treatment. 38 4
17030358 2007
39
Aggressive case of cherubism: 17-year follow-up. 38 4
17360048 2007
40
[The adaptor protein 3BP2 in leukocyte signaling]. 38 4
17156730 2006
41
Radiographic, CT and MRI features of cherubism. 38 4
16847596 2006
42
The aggressive form of cherubism: report of two cases in unrelated families. 38 4
16310907 2006
43
Identification of a novel mutation of SH3BP2 in cherubism and demonstration that SH3BP2 mutations lead to increased NFAT activation. 38 4
16786512 2006
44
Aggressive behaviour of cherubism in a teenager: 4-years of clinical follow-up associated with radiographic and histological features. 38 4
16120883 2005
45
Clinical and radiological features of central giant-cell lesions of the jaw. 38 4
15772595 2005
46
Imaging characteristics of cherubism. 38 4
15039186 2004
47
Temporal bone involvement in cherubism: case report. 38 4
15322650 2004
48
Clinical and radiological evaluation of cherubism: a sporadic case report and review of the literature. 38 4
12907058 2003
49
Giant cell reparative granuloma of the orbit associated with cherubism. 38 4
13129888 2003
50
Sleep disordered breathing in an adult with cherubism. 38 4
12775879 2003

Variations for Cherubism

ClinVar genetic disease variations for Cherubism:

6 (show top 50) (show all 226)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SH3BP2 NM_001122681.2(SH3BP2): c.1259G> A (p.Gly420Glu) single nucleotide variant Pathogenic rs28938171 4:2833315-2833315 4:2831588-2831588
2 SH3BP2 NM_001122681.2(SH3BP2): c.1258G> C (p.Gly420Arg) single nucleotide variant Pathogenic rs28938170 4:2833314-2833314 4:2831587-2831587
3 SH3BP2 NM_001122681.2(SH3BP2): c.1244G> A (p.Arg415Gln) single nucleotide variant Pathogenic rs121909149 4:2833300-2833300 4:2831573-2831573
4 SH3BP2 NM_001122681.2(SH3BP2): c.1244G> C (p.Arg415Pro) single nucleotide variant Pathogenic rs121909149 4:2833300-2833300 4:2831573-2831573
5 SH3BP2 NM_001122681.2(SH3BP2): c.1253C> A (p.Pro418His) single nucleotide variant Pathogenic rs121909146 4:2833309-2833309 4:2831582-2831582
6 SH3BP2 NM_001122681.2(SH3BP2): c.1253C> G (p.Pro418Arg) single nucleotide variant Pathogenic rs121909146 4:2833309-2833309 4:2831582-2831582
7 SH3BP2 NM_001122681.2(SH3BP2): c.1253C> T (p.Pro418Leu) single nucleotide variant Pathogenic rs121909146 4:2833309-2833309 4:2831582-2831582
8 SH3BP2 NM_001122681.2(SH3BP2): c.239G> A (p.Arg80Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs147432096 4:2824764-2824764 4:2823037-2823037
9 SH3BP2 NM_001122681.2(SH3BP2): c.585G> A (p.Glu195=) single nucleotide variant Conflicting interpretations of pathogenicity rs200156713 4:2829400-2829400 4:2827673-2827673
10 SH3BP2 NM_001122681.2(SH3BP2): c.656A> T (p.Asp219Val) single nucleotide variant Conflicting interpretations of pathogenicity rs150572069 4:2831289-2831289 4:2829562-2829562
11 SH3BP2 NM_001122681.2(SH3BP2): c.937G> A (p.Gly313Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs141518457 4:2831570-2831570 4:2829843-2829843
12 SH3BP2 NM_001122681.2(SH3BP2): c.1514C> G (p.Ser505Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs144577122 4:2834742-2834742 4:2833015-2833015
13 SH3BP2 NM_001122681.2(SH3BP2): c.*618G> A single nucleotide variant Uncertain significance rs886059361 4:2836179-2836179 4:2834452-2834452
14 SH3BP2 NM_001122681.2(SH3BP2): c.*3387G> A single nucleotide variant Uncertain significance rs886059376 4:2838948-2838948 4:2837221-2837221
15 SH3BP2 NM_001122681.2(SH3BP2): c.*3175C> T single nucleotide variant Uncertain significance rs886059372 4:2838736-2838736 4:2837009-2837009
16 SH3BP2 NM_001122681.2(SH3BP2): c.1141G> A (p.Val381Met) single nucleotide variant Uncertain significance rs201966956 4:2831774-2831774 4:2830047-2830047
17 SH3BP2 NM_001122681.2(SH3BP2): c.1351-13C> T single nucleotide variant Uncertain significance rs367963191 4:2833637-2833637 4:2831910-2831910
18 SH3BP2 NM_001122681.2(SH3BP2): c.*88T> C single nucleotide variant Uncertain significance rs886059358 4:2835649-2835649 4:2833922-2833922
19 SH3BP2 NM_001122681.2(SH3BP2): c.1123G> A (p.Gly375Arg) single nucleotide variant Uncertain significance rs375094936 4:2831756-2831756 4:2830029-2830029
20 SH3BP2 NM_001122681.2(SH3BP2): c.1299A> G (p.Gln433=) single nucleotide variant Uncertain significance rs886059357 4:2833355-2833355 4:2831628-2831628
21 SH3BP2 NM_001122681.2(SH3BP2): c.1367C> T (p.Ser456Leu) single nucleotide variant Uncertain significance rs199818232 4:2833666-2833666 4:2831939-2831939
22 SH3BP2 NM_001122681.2(SH3BP2): c.*3560C> T single nucleotide variant Uncertain significance rs766523218 4:2839121-2839121 4:2837394-2837394
23 SH3BP2 NM_001122681.2(SH3BP2): c.-4-1590C> T single nucleotide variant Uncertain significance rs372664062 4:2820751-2820751 4:2819024-2819024
24 SH3BP2 NM_001122681.2(SH3BP2): c.*1489G> A single nucleotide variant Uncertain significance rs886059364 4:2837050-2837050 4:2835323-2835323
25 SH3BP2 NM_001122681.2(SH3BP2): c.*1116C> T single nucleotide variant Uncertain significance rs760035123 4:2836677-2836677 4:2834950-2834950
26 SH3BP2 NM_001122681.2(SH3BP2): c.*1401C> T single nucleotide variant Uncertain significance rs886059363 4:2836962-2836962 4:2835235-2835235
27 SH3BP2 NM_001122681.2(SH3BP2): c.*415G> A single nucleotide variant Uncertain significance rs886059360 4:2835976-2835976 4:2834249-2834249
28 SH3BP2 NM_001122681.2(SH3BP2): c.*1947C> T single nucleotide variant Uncertain significance rs770509235 4:2837508-2837508 4:2835781-2835781
29 SH3BP2 NM_001122681.2(SH3BP2): c.*2353_*2354CT[1] short repeat Uncertain significance rs886059365 4:2837916-2837917 4:2836189-2836190
30 SH3BP2 NM_001122681.2(SH3BP2): c.*2464T> C single nucleotide variant Uncertain significance rs886059366 4:2838025-2838025 4:2836298-2836298
31 SH3BP2 NM_001122681.2(SH3BP2): c.*3132_*3134TCT[1] short repeat Uncertain significance rs753767983 4:2838696-2838698 4:2836969-2836971
32 SH3BP2 NM_001122681.2(SH3BP2): c.*3220T> C single nucleotide variant Uncertain significance rs886059373 4:2838781-2838781 4:2837054-2837054
33 SH3BP2 NM_001122681.2(SH3BP2): c.*3229T> G single nucleotide variant Uncertain significance rs886059374 4:2838790-2838790 4:2837063-2837063
34 SH3BP2 NM_001122681.2(SH3BP2): c.*4329_*4330del deletion Uncertain significance rs571870071 4:2839890-2839891 4:2838163-2838164
35 SH3BP2 NM_001122681.2(SH3BP2): c.*4817_*4818dup duplication Uncertain significance rs397878760 4:2840378-2840379 4:2838651-2838652
36 SH3BP2 NM_001122681.2(SH3BP2): c.*3911C> T single nucleotide variant Uncertain significance rs886059378 4:2839472-2839472 4:2837745-2837745
37 SH3BP2 NM_001122681.2(SH3BP2): c.*5613C> T single nucleotide variant Uncertain significance rs886059384 4:2841174-2841174 4:2839447-2839447
38 SH3BP2 NM_001122681.2(SH3BP2): c.*6660A> G single nucleotide variant Uncertain significance rs886059390 4:2842221-2842221 4:2840494-2840494
39 SH3BP2 NM_001122681.2(SH3BP2): c.*7167del deletion Uncertain significance rs566926916 4:2842728-2842728 4:2841001-2841001
40 SH3BP2 NM_001122681.2(SH3BP2): c.*6419_*6420dup duplication Uncertain significance rs568332811 4:2841980-2841981 4:2840253-2840254
41 SH3BP2 NM_001122681.2(SH3BP2): c.*6420dup duplication Uncertain significance rs568332811 4:2841981-2841981 4:2840254-2840254
42 SH3BP2 NM_001122681.2(SH3BP2): c.81G> T (p.Val27=) single nucleotide variant Uncertain significance rs745515987 4:2822425-2822425 4:2820698-2820698
43 SH3BP2 NM_001122681.2(SH3BP2): c.1488+6C> T single nucleotide variant Uncertain significance rs548212932 4:2834145-2834145 4:2832418-2832418
44 SH3BP2 NM_001122681.2(SH3BP2): c.1187T> C (p.Met396Thr) single nucleotide variant Uncertain significance rs749171361 4:2831820-2831820 4:2830093-2830093
45 SH3BP2 NM_001122681.2(SH3BP2): c.440C> T (p.Ser147Leu) single nucleotide variant Uncertain significance rs150461713 4:2828968-2828968 4:2827241-2827241
46 SH3BP2 NM_001122681.2(SH3BP2): c.528C> T (p.His176=) single nucleotide variant Uncertain significance rs138986397 4:2829343-2829343 4:2827616-2827616
47 SH3BP2 NM_001122681.2(SH3BP2): c.*821A> G single nucleotide variant Uncertain significance rs886059362 4:2836382-2836382 4:2834655-2834655
48 SH3BP2 NM_001122681.2(SH3BP2): c.*128T> C single nucleotide variant Uncertain significance rs886059359 4:2835689-2835689 4:2833962-2833962
49 SH3BP2 NM_001122681.2(SH3BP2): c.*2574G> A single nucleotide variant Uncertain significance rs886059367 4:2838135-2838135 4:2836408-2836408
50 SH3BP2 NM_001122681.2(SH3BP2): c.1190C> T (p.Ala397Val) single nucleotide variant Uncertain significance rs527342066 4:2831823-2831823 4:2830096-2830096

UniProtKB/Swiss-Prot genetic disease variations for Cherubism:

74
# Symbol AA change Variation ID SNP ID
1 SH3BP2 p.Arg415Pro VAR_013257 rs121909149
2 SH3BP2 p.Arg415Gln VAR_013258 rs121909149
3 SH3BP2 p.Pro418His VAR_013259 rs121909146
4 SH3BP2 p.Pro418Leu VAR_013260 rs121909146
5 SH3BP2 p.Pro418Arg VAR_013261 rs121909146
6 SH3BP2 p.Gly420Glu VAR_013262 rs28938171
7 SH3BP2 p.Gly420Arg VAR_013263 rs28938170

Expression for Cherubism

Search GEO for disease gene expression data for Cherubism.

Pathways for Cherubism

Pathways related to Cherubism according to KEGG:

37
# Name Kegg Source Accession
1 Natural killer cell mediated cytotoxicity hsa04650

Pathways related to Cherubism according to GeneCards Suite gene sharing:

(show all 27)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.91 TNFSF11 SRC PTPN11 FGFR3 CSF1
2
Show member pathways
12.79 TNFSF11 SRC PTPN11 FGFR3 CSF1
3
Show member pathways
12.34 SRC PTPN11 FGFR3
4
Show member pathways
12.27 SH3BP2 PTPN11 NFATC1
5
Show member pathways
12.2 TNFSF11 SRC PTPN11
6
Show member pathways
12.15 SRC PTPN11 FGFR3
7
Show member pathways
12.1 TNFSF11 SRC NFATC1
8
Show member pathways
12.1 SRC PTPN11 FGFR3 CSF1
9
Show member pathways
12.06 SRC PTPN11 NFATC1
10
Show member pathways
12.05 SH3BP2 PTPN11 NFATC1
11
Show member pathways
11.92 SRC PTPN11 FGFR3
12
Show member pathways
11.78 SRC PTPN11 NFATC1
13 11.54 TNFSF11 NFATC1 CSF1
14
Show member pathways
11.51 TNFSF11 SRC PTPN11 NFATC1
15 11.36 SRC PTPN11
16 11.32 SRC CSF1
17 11.29 TNFSF11 CSF1
18 11.28 SRC PTPN11
19 11.27 SRC PTPN11
20 11.25 PTPN11 NFATC1
21 11.24 SRC FGFR3
22 11.21 SRC PTPN11
23
Show member pathways
11.17 SRC CSF1
24 11.14 SRC PTPN11
25 11.09 SRC PTPN11
26 10.83 SRC PTPN11
27 10.46 SRC PTPN11 CSF1

GO Terms for Cherubism

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

# Name GO ID Score Top Affiliating Genes
1 nuclear body GO:0016604 8.8 TNKS NFATC1 BABAM1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.71 TNFSF11 PTPN11 CSF1
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.7 SRC PTPN11 FGFR3
3 T cell costimulation GO:0031295 9.56 SRC PTPN11
4 epidermal growth factor receptor signaling pathway GO:0007173 9.55 SRC PTPN11
5 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.51 SRC FGFR3
6 osteoclast differentiation GO:0030316 9.49 TNFSF11 CSF1
7 homeostasis of number of cells within a tissue GO:0048873 9.48 PTPN11 CSF1
8 bone resorption GO:0045453 9.46 TNFSF11 SRC
9 positive regulation of osteoclast differentiation GO:0045672 9.43 TNFSF11 CSF1
10 neurotrophin TRK receptor signaling pathway GO:0048011 9.4 SRC PTPN11
11 positive regulation of insulin receptor signaling pathway GO:0046628 9.37 SRC PTPN11
12 branching involved in mammary gland duct morphogenesis GO:0060444 9.32 SRC CSF1
13 positive regulation of intracellular signal transduction GO:1902533 9.26 TNFSF11 SRC
14 osteoclast development GO:0036035 9.16 TNFSF11 SRC
15 osteoclast proliferation GO:0002158 8.96 TNFSF11 CSF1
16 positive regulation of protein kinase B signaling GO:0051897 8.92 TNFSF11 SRC PTPN11 FGFR3

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.91 TNKS TNFSF11 SRC SH3BP2 PTPN11 NFATC1
2 phosphotyrosine residue binding GO:0001784 9.16 SH3BP2 PTPN11
3 insulin receptor binding GO:0005158 8.96 SRC PTPN11
4 SH3/SH2 adaptor activity GO:0005070 8.8 SRC SH3BP2 PTPN11

Sources for Cherubism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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