CRBM
MCID: CHR003
MIFTS: 57

Cherubism (CRBM)

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

Aliases & Classifications for Cherubism

MalaCards integrated aliases for Cherubism:

Name: Cherubism 56 12 74 24 52 25 58 73 36 13 54 43 15 71
Crbm 56 52 58 73
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:

58
cherubism
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
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:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare bone diseases
Developmental anomalies during embryogenesis
Rare immunological diseases
Rare odontological diseases


External Ids:

Disease Ontology 12 DOID:1856
OMIM 56 118400
KEGG 36 H00497
MeSH 43 D002636
NCIt 49 C84630
SNOMED-CT 67 53432004 76098004
ICD10 32 M27.8
MESH via Orphanet 44 D002636
ICD10 via Orphanet 33 K10.8
UMLS via Orphanet 72 C0008029
Orphanet 58 ORPHA184
MedGen 41 C0008029
UMLS 71 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 giant cell reparative granuloma and giant cell tumor. 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 Signaling by Wnt. Affiliated tissues include bone, lymph node and testes, and related phenotypes are full cheeks and bone cyst

Disease Ontology : 12 A bone disease characterized by replacement of bone in the jaws with fibrous tissue leding to facial swelling that has material basis in heterozygous mutation in SH3BP2 on chromosome 4p16.3.

NIH Rare Diseases : 52 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.

OMIM : 56 Cherubism is characterized by a loss of bone, restricted to the jaws, and by the replacement of this bone with fibrous tissues, leading to facial swelling. Involvement of the infraorbital rim and the orbital floor leads to the upward tilting of the eyeballs and consequent exposure of the inferior part of the sclerae, giving a 'cherubic' appearance. Submandibular lymph node enlargement is often reported. Functional impairment includes mastication and speech problems, tooth alterations, and loss of normal vision. Onset of the disease is usually between 14 months and 4 years of age. The disease progresses through puberty, then stabilizes, and in some cases regresses without treatment (summary by Tiziani et al., 1999). (118400)

KEGG : 36 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 : 73 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 : 74 Cherubism is a rare genetic disorder that causes prominence in the lower portion in the face. The name... more...

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 83)
# Related Disease Score Top Affiliating Genes
1 giant cell reparative granuloma 30.5 USP6 TNFSF11 SH3BP2 CALCA
2 giant cell tumor 30.4 TNFSF11 CSF1 CALCA
3 bone resorption disease 30.2 TNFSF11 NFATC1 CSF1 CALCA
4 aneurysmal bone cysts 30.1 USP6 TNFSF11 CALCA
5 periapical periodontitis 29.9 TNFSF11 NFATC1
6 bone giant cell tumor 29.8 USP6 TNFSF11 SH3BP2 CALCA
7 bone disease 29.7 TNFSF11 SRC NFATC1 FGFR3 CSF1 CALCA
8 osteopetrosis 29.5 TNFSF11 SRC CSF1 CALCA
9 ramon syndrome 12.2
10 al gazali khidr prem chandran syndrome 11.6
11 fibrous dysplasia 10.7
12 noonan syndrome 1 10.3
13 triiodothyronine receptor auxiliary protein 10.3
14 gingival fibromatosis 10.3
15 fibromatosis 10.3
16 overgrowth syndrome 10.3
17 root resorption 10.3
18 pseudo-turner syndrome 10.3
19 bone giant cell sarcoma 10.3 USP6 SH3BP2
20 hyperparathyroidism 10.3
21 exophthalmos 10.3
22 neurofibromatosis, type iv, of riccardi 10.2
23 3-methylglutaconic aciduria, type iii 10.2
24 fibroma 10.2
25 gingival overgrowth 10.2
26 hypertrichosis 10.2
27 chronic apical periodontitis 10.2 TNFSF11 NFATC1
28 multicentric reticulohistiocytosis 10.2 TNFSF11 CSF1
29 malignant ovarian brenner tumor 10.1 TNFSF11 CALCA
30 endosteal hyperostosis, autosomal dominant 10.1 TNFSF11 SH3BP2 NFATC1
31 paget disease of bone 5, juvenile-onset 10.1 TNFSF11 CALCA
32 treacher collins syndrome 1 10.1
33 osteogenic sarcoma 10.1
34 tooth agenesis 10.1
35 ectodermal dysplasia 10.1
36 craniosynostosis 10.1
37 osteopetrosis, autosomal recessive 2 10.1 TNFSF11 NFATC1
38 lung acinar adenocarcinoma 10.1 TNKS2 TNKS AXIN1
39 gorham's disease 10.1 TNFSF11 CALCA
40 bone sarcoma 10.1 SRC CSF1
41 tooth resorption 10.0 TNFSF11 SH3BP2 CALCA
42 neurofibromatosis, type ii 10.0
43 fibromatosis, gingival, 1 10.0
44 myositis 10.0
45 cryptorchidism, unilateral or bilateral 10.0
46 dandy-walker syndrome 10.0
47 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0
48 proteasome-associated autoinflammatory syndrome 1 10.0
49 fragile x syndrome 10.0
50 retinoschisis 1, x-linked, juvenile 10.0

Graphical network of the top 20 diseases related to Cherubism:



Diseases related to Cherubism

Symptoms & Phenotypes for Cherubism

Human phenotypes related to Cherubism:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 full cheeks 58 31 hallmark (90%) Very frequent (99-80%) HP:0000293
2 bone cyst 58 31 hallmark (90%) Very frequent (99-80%) HP:0012062
3 broad jaw 58 31 hallmark (90%) Very frequent (99-80%) HP:0012802
4 abnormality of dental morphology 58 31 frequent (33%) Frequent (79-30%) HP:0006482
5 oligodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000677
6 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
7 feeding difficulties in infancy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008872
8 progressive visual loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0000529
9 proptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000520
10 abnormality of the voice 58 31 occasional (7.5%) Occasional (29-5%) HP:0001608
11 obstructive sleep apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002870
12 upper airway obstruction 58 31 occasional (7.5%) Occasional (29-5%) HP:0002781
13 abnormality of the dentition 58 Frequent (79-30%)
14 visual impairment 58 Occasional (29-5%)
15 reduced visual acuity 31 HP:0007663
16 striae distensae 31 HP:0001065
17 round face 31 HP:0000311
18 optic neuropathy 31 HP:0001138
19 constriction of peripheral visual field 31 HP:0001133
20 abnormality of the mandible 58 Very frequent (99-80%)
21 macular scar 31 HP:0200056
22 lower eyelid retraction 31 HP:0030802
23 marcus gunn pupil 31 HP:0200057

Symptoms via clinical synopsis from OMIM:

56
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:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.27 AXIN1 CSF1 FAT4 FGFR3 NFATC1 PTPN11
2 growth/size/body region MP:0005378 10.22 AXIN1 CSF1 FAT4 FGFR3 NFATC1 PTPN11
3 craniofacial MP:0005382 10.18 AXIN1 CSF1 FGFR3 NFATC1 PTPN11 RNF146
4 mortality/aging MP:0010768 10.1 AXIN1 CSF1 FAT4 FGFR3 NFATC1 PTPN11
5 integument MP:0010771 10.07 CSF1 FGFR3 NFATC1 PTPN11 SH3BP2 SRC
6 embryo MP:0005380 10.03 AXIN1 FAT4 NFATC1 PTPN11 SRC TERF1
7 limbs/digits/tail MP:0005371 10.02 AXIN1 CSF1 FAT4 FGFR3 NFATC1 PTPN11
8 digestive/alimentary MP:0005381 10 AXIN1 FAT4 FGFR3 NFATC1 PTPN11 SH3BP2
9 no phenotypic analysis MP:0003012 9.76 CSF1 FAT4 FGFR3 NFATC1 PTPN11 TERF1
10 respiratory system MP:0005388 9.65 AXIN1 CSF1 FAT4 FGFR3 NFATC1 PTPN11
11 skeleton MP:0005390 9.36 AXIN1 CSF1 FAT4 FGFR3 NFATC1 PTPN11

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:

40
Bone, Lymph Node, Testes, Heart, Salivary Gland, Skin, B Cells

Publications for Cherubism

Articles related to Cherubism:

(show top 50) (show all 480)
# Title Authors PMID Year
1
Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. 54 61 24 56 6
11381256 2001
2
Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism. 54 61 24 6
12900899 2003
3
Craniosynostosis in cherubism. 54 61 24 56
11186885 2000
4
Optic neuropathy and macular chorioretinal folds caused by orbital cherubism. 61 24 56
12695257 2003
5
Defining a new aggressiveness classification and using NFATc1 localization as a prognostic factor in cherubism. 61 24 52
27498064 2016
6
Cherubism: A Case Report with Surgical Intervention. 61 24 52
27272835 2016
7
Novel mutations in the SH3BP2 gene associated with sporadic central giant cell lesions and cherubism. 54 61 24
19017279 2009
8
SH3BP2 is an activator of NFAT activity and osteoclastogenesis. 54 61 24
18440306 2008
9
Cherubism 61 6
20301316 2007
10
Increased myeloid cell responses to M-CSF and RANKL cause bone loss and inflammation in SH3BP2 "cherubism" mice. 54 61 24
17218256 2007
11
A novel mutation in the SH3BP2 gene causes cherubism: case report. 54 61 24
17147794 2006
12
The gene for cherubism maps to chromosome 4p16.3. 61 56
10364527 1999
13
The gene for cherubism maps to chromosome 4p16. 61 56
10364528 1999
14
Spontaneous deletion in the FMR1 gene in a patient with fragile X syndrome and cherubism. 61 56
8541863 1995
15
Cherubism: a study of twenty cases from one family. 61 56
285398 1979
16
Cherubism. 61 56
5474754 1970
17
Cherubism. A thumbnail sketch of its diagnosis and a conservative method of treatment. 61 56
5213235 1965
18
Bone involvement in monogenic autoinflammatory syndromes. 61 24
28968889 2018
19
Cherubism. A case report. 61 52
27427211 2017
20
Craniofacial and Dental Features in Six Children With Cherubism. 61 24
28857986 2017
21
Cherubism: An Unusual Study With Long-Term Follow-Up. 61 52
27315317 2016
22
A case of cherubism with spondyloarthropathy. 61 24
25960037 2015
23
The calcineurin inhibitor tacrolimus as a new therapy in severe cherubism. 61 24
25491283 2015
24
Cherubism allele heterozygosity amplifies microbe-induced inflammatory responses in murine macrophages. 61 24
25705883 2015
25
Ophthalmic manifestations of cherubism. 61 24
25727591 2015
26
Cherubism: report of three cases and literature review. 61 24
25264591 2015
27
Enhanced TLR-MYD88 signaling stimulates autoinflammation in SH3BP2 cherubism mice and defines the etiology of cherubism. 61 24
25220465 2014
28
Nocturnal mouthpiece ventilation and medical hypnosis to treat severe obstructive sleep apnea in a child with cherubism. 61 24
23129383 2013
29
Autoinflammatory bone disorders. 61 24
23369460 2013
30
Characterization of a Norwegian cherubism cohort; molecular genetic findings, oral manifestations and quality of life. 61 24
23298620 2013
31
Cherubism: panoramic and CT features in adults. 61 24
24048692 2013
32
Clinical and imagiological findings of central giant cell lesion and cherubism. 61 24
23657418 2013
33
Cherubism: best clinical practice. 61 24
22640403 2012
34
The role of SH3BP2 in the pathophysiology of cherubism. 61 24
22640988 2012
35
Pro416Arg cherubism mutation in Sh3bp2 knock-in mice affects osteoblasts and alters bone mineral and matrix properties. 61 24
20117257 2010
36
Identical Mutation in SH3BP2 Gene Causes Clinical Phenotypes with Different Severity in Mother and Daughter - Case Report. 61 24
21045962 2010
37
Familial cherubism: the experience of the Moscow Central Institute for Stomatology and Maxillo-Facial Surgery. 61 24
19038533 2009
38
Cherubism: long-term follow-up of 2 patients in whom it regressed without treatment. 61 24
17030358 2007
39
Aggressive case of cherubism: 17-year follow-up. 61 24
17360048 2007
40
[The adaptor protein 3BP2 in leukocyte signaling]. 61 24
17156730 2006
41
Radiographic, CT and MRI features of cherubism. 61 24
16847596 2006
42
The aggressive form of cherubism: report of two cases in unrelated families. 61 24
16310907 2006
43
Identification of a novel mutation of SH3BP2 in cherubism and demonstration that SH3BP2 mutations lead to increased NFAT activation. 61 24
16786512 2006
44
Aggressive behaviour of cherubism in a teenager: 4-years of clinical follow-up associated with radiographic and histological features. 61 24
16120883 2005
45
Clinical and radiological features of central giant-cell lesions of the jaw. 61 24
15772595 2005
46
Imaging characteristics of cherubism. 61 24
15039186 2004
47
Temporal bone involvement in cherubism: case report. 61 24
15322650 2004
48
Clinical and radiological evaluation of cherubism: a sporadic case report and review of the literature. 61 24
12907058 2003
49
Giant cell reparative granuloma of the orbit associated with cherubism. 61 24
13129888 2003
50
Sleep disordered breathing in an adult with cherubism. 61 24
12775879 2003

Variations for Cherubism

ClinVar genetic disease variations for Cherubism:

6 (show top 50) (show all 219) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SH3BP2 NM_001122681.2(SH3BP2):c.1259G>A (p.Gly420Glu)SNV Pathogenic 7553 rs28938171 4:2833315-2833315 4:2831588-2831588
2 SH3BP2 NM_001122681.2(SH3BP2):c.1258G>C (p.Gly420Arg)SNV Pathogenic 7552 rs28938170 4:2833314-2833314 4:2831587-2831587
3 SH3BP2 NM_001122681.2(SH3BP2):c.1244G>A (p.Arg415Gln)SNV Pathogenic 7551 rs121909149 4:2833300-2833300 4:2831573-2831573
4 SH3BP2 NM_001122681.2(SH3BP2):c.1244G>C (p.Arg415Pro)SNV Pathogenic 7550 rs121909149 4:2833300-2833300 4:2831573-2831573
5 SH3BP2 NM_001122681.2(SH3BP2):c.1253C>A (p.Pro418His)SNV Pathogenic 7549 rs121909146 4:2833309-2833309 4:2831582-2831582
6 SH3BP2 NM_001122681.2(SH3BP2):c.1253C>G (p.Pro418Arg)SNV Pathogenic 7548 rs121909146 4:2833309-2833309 4:2831582-2831582
7 SH3BP2 NM_001122681.2(SH3BP2):c.1253C>T (p.Pro418Leu)SNV Pathogenic 7547 rs121909146 4:2833309-2833309 4:2831582-2831582
8 SH3BP2 NM_001122681.2(SH3BP2):c.528C>T (p.His176=)SNV Conflicting interpretations of pathogenicity 348579 rs138986397 4:2829343-2829343 4:2827616-2827616
9 SH3BP2 NM_001122681.2(SH3BP2):c.585G>A (p.Glu195=)SNV Conflicting interpretations of pathogenicity 348580 rs200156713 4:2829400-2829400 4:2827673-2827673
10 SH3BP2 NM_001122681.2(SH3BP2):c.656A>T (p.Asp219Val)SNV Conflicting interpretations of pathogenicity 348581 rs150572069 4:2831289-2831289 4:2829562-2829562
11 SH3BP2 NM_001122681.2(SH3BP2):c.937G>A (p.Gly313Arg)SNV Conflicting interpretations of pathogenicity 348582 rs141518457 4:2831570-2831570 4:2829843-2829843
12 SH3BP2 NM_001122681.2(SH3BP2):c.1514C>G (p.Ser505Cys)SNV Conflicting interpretations of pathogenicity 348593 rs144577122 4:2834742-2834742 4:2833015-2833015
13 SH3BP2 NM_001122681.2(SH3BP2):c.*3175C>TSNV Uncertain significance 348652 rs886059372 4:2838736-2838736 4:2837009-2837009
14 SH3BP2 NM_001122681.2(SH3BP2):c.1141G>A (p.Val381Met)SNV Uncertain significance 348584 rs201966956 4:2831774-2831774 4:2830047-2830047
15 SH3BP2 NM_001122681.2(SH3BP2):c.1351-13C>TSNV Uncertain significance 348589 rs367963191 4:2833637-2833637 4:2831910-2831910
16 SH3BP2 NM_001122681.2(SH3BP2):c.*618G>ASNV Uncertain significance 348603 rs886059361 4:2836179-2836179 4:2834452-2834452
17 SH3BP2 NM_001122681.2(SH3BP2):c.*3387G>ASNV Uncertain significance 348659 rs886059376 4:2838948-2838948 4:2837221-2837221
18 SH3BP2 NM_001122681.2(SH3BP2):c.*3560C>TSNV Uncertain significance 348660 rs766523218 4:2839121-2839121 4:2837394-2837394
19 SH3BP2 NM_001122681.2(SH3BP2):c.*3106A>TSNV Uncertain significance 348648 rs886059369 4:2838667-2838667 4:2836940-2836940
20 SH3BP2 NM_001122681.2(SH3BP2):c.*5496A>TSNV Uncertain significance 348686 rs886059382 4:2841057-2841057 4:2839330-2839330
21 SH3BP2 NM_001122681.2(SH3BP2):c.*3111C>GSNV Uncertain significance 348649 rs886059370 4:2838672-2838672 4:2836945-2836945
22 SH3BP2 NM_001122681.2(SH3BP2):c.*3667G>ASNV Uncertain significance 348663 rs886059377 4:2839228-2839228 4:2837501-2837501
23 SH3BP2 NM_001122681.2(SH3BP2):c.*4161C>TSNV Uncertain significance 348671 rs771475877 4:2839722-2839722 4:2837995-2837995
24 SH3BP2 NM_001122681.2(SH3BP2):c.*88T>CSNV Uncertain significance 348596 rs886059358 4:2835649-2835649 4:2833922-2833922
25 SH3BP2 NM_001122681.2(SH3BP2):c.1299A>G (p.Gln433=)SNV Uncertain significance 348588 rs886059357 4:2833355-2833355 4:2831628-2831628
26 SH3BP2 NM_001122681.2(SH3BP2):c.1367C>T (p.Ser456Leu)SNV Uncertain significance 348590 rs199818232 4:2833666-2833666 4:2831939-2831939
27 SH3BP2 NM_001122681.2(SH3BP2):c.-4-1590C>TSNV Uncertain significance 348562 rs372664062 4:2820751-2820751 4:2819024-2819024
28 SH3BP2 NM_001122681.2(SH3BP2):c.*1489G>ASNV Uncertain significance 348616 rs886059364 4:2837050-2837050 4:2835323-2835323
29 SH3BP2 NM_001122681.2(SH3BP2):c.1123G>A (p.Gly375Arg)SNV Uncertain significance 348583 rs375094936 4:2831756-2831756 4:2830029-2830029
30 SH3BP2 NM_001122681.2(SH3BP2):c.81G>T (p.Val27=)SNV Uncertain significance 348564 rs745515987 4:2822425-2822425 4:2820698-2820698
31 SH3BP2 NM_001122681.2(SH3BP2):c.*5613C>TSNV Uncertain significance 348688 rs886059384 4:2841174-2841174 4:2839447-2839447
32 SH3BP2 NM_001122681.2(SH3BP2):c.*6419_*6420dupduplication Uncertain significance 348707 rs568332811 4:2841961-2841962 4:2840234-2840235
33 SH3BP2 NM_001122681.2(SH3BP2):c.*6420dupduplication Uncertain significance 348706 rs568332811 4:2841961-2841962 4:2840234-2840235
34 SH3BP2 NM_001122681.2(SH3BP2):c.*6660A>GSNV Uncertain significance 348712 rs886059390 4:2842221-2842221 4:2840494-2840494
35 SH3BP2 NM_001122681.2(SH3BP2):c.*7167deldeletion Uncertain significance 348717 rs566926916 4:2842718-2842718 4:2840991-2840991
36 SH3BP2 NM_001122681.2(SH3BP2):c.440C>T (p.Ser147Leu)SNV Uncertain significance 348572 rs150461713 4:2828968-2828968 4:2827241-2827241
37 SH3BP2 NM_001122681.2(SH3BP2):c.*128T>CSNV Uncertain significance 348598 rs886059359 4:2835689-2835689 4:2833962-2833962
38 SH3BP2 NM_001122681.2(SH3BP2):c.*821A>GSNV Uncertain significance 348608 rs886059362 4:2836382-2836382 4:2834655-2834655
39 SH3BP2 NM_001122681.2(SH3BP2):c.*2574G>ASNV Uncertain significance 348638 rs886059367 4:2838135-2838135 4:2836408-2836408
40 SH3BP2 NM_001122681.2(SH3BP2):c.*2665C>GSNV Uncertain significance 348641 rs886059368 4:2838226-2838226 4:2836499-2836499
41 SH3BP2 NM_001122681.2(SH3BP2):c.*4776T>CSNV Uncertain significance 348675 rs886059380 4:2840337-2840337 4:2838610-2838610
42 SH3BP2 NM_001122681.2(SH3BP2):c.*5738dupduplication Uncertain significance 348690 rs1553809216 4:2841290-2841291 4:2839563-2839564
43 SH3BP2 NM_001122681.2(SH3BP2):c.*6061G>CSNV Uncertain significance 348700 rs886059386 4:2841622-2841622 4:2839895-2839895
44 SH3BP2 NM_001122681.2(SH3BP2):c.*3383C>TSNV Uncertain significance 348658 rs886059375 4:2838944-2838944 4:2837217-2837217
45 SH3BP2 NM_001122681.2(SH3BP2):c.*6399_*6400insAinsertion Uncertain significance 348705 rs1553809321 4:2841960-2841961 4:2840233-2840234
46 SH3BP2 NM_001122681.2(SH3BP2):c.*6928T>CSNV Uncertain significance 348714 rs886059391 4:2842489-2842489 4:2840762-2840762
47 SH3BP2 NM_001122681.2(SH3BP2):c.398A>C (p.His133Pro)SNV Uncertain significance 348571 rs886059355 4:2826893-2826893 4:2825166-2825166
48 SH3BP2 NM_001122681.2(SH3BP2):c.472C>T (p.Arg158Trp)SNV Uncertain significance 348575 rs200463050 4:2829000-2829000 4:2827273-2827273
49 SH3BP2 NM_001122681.2(SH3BP2):c.517+5G>ASNV Uncertain significance 348577 rs367984149 4:2829050-2829050 4:2827323-2827323
50 SH3BP2 NM_001122681.2(SH3BP2):c.*1116C>TSNV Uncertain significance 348611 rs760035123 4:2836677-2836677 4:2834950-2834950

UniProtKB/Swiss-Prot genetic disease variations for Cherubism:

73
# 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:

36
# Name Kegg Source Accession
1 Natural killer cell mediated cytotoxicity hsa04650

Pathways related to Cherubism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.53 TNKS2 TNKS RNF146 NFATC1 AXIN1
2
Show member pathways
12.44 TNKS2 TNKS RNF146 BABAM1 AXIN1
3
Show member pathways
11.85 TNKS2 TNKS SRC PTPN11 AXIN1
4
Show member pathways
11.76 TNKS2 TNKS TERF1 PTPN11 FGFR3
5 11.72 TNFSF11 NFATC1 CSF1
6 11.1 SRC PTPN11 CSF1
7 10.66 TNKS AXIN1
8
Show member pathways
10.25 TNKS2 TNKS TERF1 PTPN11

GO Terms for Cherubism

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

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.47 USP6 TNKS2 TNKS TNFSF11 TERF1 STRN
2 nuclear chromosome, telomeric region GO:0000784 9.43 TNKS2 TNKS TERF1
3 nuclear body GO:0016604 9.35 TNKS TERF1 NFATC1 CSF1 BABAM1
4 chromosome, telomeric region GO:0000781 9.33 TNKS2 TNKS TERF1
5 pericentriolar material GO:0000242 9.32 TNKS2 TNKS

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.74 SRC FGFR3 CSF1
2 fibroblast growth factor receptor signaling pathway GO:0008543 9.63 PTPN11 FGFR3 FAT4
3 positive regulation of protein kinase B signaling GO:0051897 9.62 TNFSF11 SRC PTPN11 FGFR3
4 positive regulation of insulin receptor signaling pathway GO:0046628 9.6 SRC PTPN11
5 positive regulation of osteoclast differentiation GO:0045672 9.59 TNFSF11 CSF1
6 neurotrophin TRK receptor signaling pathway GO:0048011 9.58 SRC PTPN11
7 negative regulation of telomere maintenance via telomerase GO:0032211 9.58 TERF1 SRC
8 positive regulation of telomere capping GO:1904355 9.56 TNKS2 TNKS
9 regulation of intracellular estrogen receptor signaling pathway GO:0033146 9.55 SRC AXIN1
10 Wnt signaling pathway GO:0016055 9.55 TNKS2 TNKS STRN RNF146 AXIN1
11 positive regulation of macrophage differentiation GO:0045651 9.54 CSF1 CALCA
12 branching involved in mammary gland duct morphogenesis GO:0060444 9.52 SRC CSF1
13 protein auto-ADP-ribosylation GO:0070213 9.51 TNKS2 TNKS
14 negative regulation of telomerase activity GO:0051974 9.49 TERF1 SRC
15 protein localization to chromosome, telomeric region GO:0070198 9.48 TNKS2 TNKS
16 protein poly-ADP-ribosylation GO:0070212 9.43 TNKS2 TNKS
17 positive regulation of intracellular signal transduction GO:1902533 9.4 TNFSF11 SRC
18 osteoclast development GO:0036035 9.37 TNFSF11 SRC
19 osteoclast proliferation GO:0002158 9.26 TNFSF11 CSF1
20 negative regulation of telomere maintenance via telomere lengthening GO:1904357 9.13 TNKS2 TNKS TERF1
21 positive regulation of canonical Wnt signaling pathway GO:0090263 9.02 TNKS2 TNKS SRC RNF146 AXIN1

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.55 USP6 TNKS2 TNKS TNFSF11 TERF1 STRN
2 insulin receptor binding GO:0005158 9.32 SRC PTPN11
3 protein ADP-ribosylase activity GO:1990404 9.26 TNKS2 TNKS
4 armadillo repeat domain binding GO:0070016 9.16 STRN AXIN1
5 SH3/SH2 adaptor activity GO:0005070 9.13 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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