CRBM
MCID: CHR003
MIFTS: 57

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 76 24 53 25 59 75 37 13 55 44 15 73
Crbm 57 53 59 75
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:
Onset and clinical course childhood onset
Inheritance autosomal dominant inheritance


GeneReviews:

24
Penetrance Penetrance is close to 100% in males and 50%-75% in females [anderson & mcclendon 1962, roginsky et al 2009]...

Classifications:



External Ids:

OMIM 57 118400
Disease Ontology 12 DOID:1856
ICD10 33 M27.8
MeSH 44 D002636
NCIt 50 C84630
SNOMED-CT 68 53432004 76098004
Orphanet 59 ORPHA184
UMLS via Orphanet 74 C0008029
MESH via Orphanet 45 D002636
ICD10 via Orphanet 34 K10.8
MedGen 42 C0008029
KEGG 37 H00497
UMLS 73 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.

MalaCards based summary : Cherubism, also known as crbm, is related to bone disease and ramon syndrome. 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 lymph node, and related phenotypes are optic atrophy and feeding difficulties in infancy

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.

UniProtKB/Swiss-Prot : 75 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 : 76 Cherubism is a rare genetic disorder that causes prominence in the lower portion in the face. The name... more...

Description from OMIM: 118400
GeneReviews: NBK1137

Related Diseases for Cherubism

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

(show all 44)
# Related Disease Score Top Affiliating Genes
1 bone disease 29.0 TNFSF11 SRC NFATC1 FGFR3 CSF1
2 ramon syndrome 11.7
3 al gazali khidr prem chandran syndrome 11.4
4 fibrous dysplasia 10.4
5 noonan syndrome 1 10.2
6 gingival fibromatosis 10.2
7 giant cell tumor 10.2
8 fibromatosis 10.2
9 pseudo-turner syndrome 10.2
10 villonodular synovitis 10.1 TNFSF11 PTPN11
11 treacher collins syndrome 1 10.0
12 neurofibromatosis, type i 10.0
13 3-methylglutaconic aciduria, type iii 10.0
14 ectodermal dysplasia 10.0
15 hyperparathyroidism 10.0
16 epilepsy 10.0
17 bone resorption disease 10.0 TNFSF11 NFATC1
18 bone remodeling disease 10.0 TNFSF11 NFATC1
19 multicentric reticulohistiocytosis 9.9 TNFSF11 CSF1
20 osteopetrosis, autosomal recessive 7 9.9 TNFSF11 CSF1
21 mandibular cancer 9.9 TNFSF11 CSF1
22 joint disorders 9.9 TNFSF11 CSF1
23 myeloma, multiple 9.9 TNFSF11 PTPN11 FGFR3
24 endosteal hyperostosis, autosomal dominant 9.9 TNFSF11 CSF1
25 myositis 9.9
26 rheumatoid arthritis 9.9
27 dandy-walker syndrome 9.9
28 fragile x syndrome 9.9
29 arthritis 9.9
30 craniosynostosis 9.9
31 polycystic ovary syndrome 9.9
32 sleep apnea 9.9
33 spondyloarthropathy 9.9
34 secondary hyperparathyroidism of renal origin 9.9
35 giant cell reparative granuloma 9.9
36 optic nerve disease 9.9
37 malignant mesenchymoma 9.9
38 myositis ossificans 9.9
39 juvenile rheumatoid arthritis 9.9
40 neuropathy 9.9
41 odontogenic myxoma 9.9
42 osteopetrosis 9.8 TNFSF11 SRC CSF1
43 pigmented villonodular synovitis 9.8 TNFSF11 PTPN11 CSF1
44 langerhans cell histiocytosis 9.7 TNFSF11 CSF1

Graphical network of the top 20 diseases related to Cherubism:



Diseases related to Cherubism

Symptoms & Phenotypes for Cherubism

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
optic neuropathy
proptosis
macular scarring
upward displacement of the globes
lower eyelid retraction
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

Human phenotypes related to Cherubism:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
2 feeding difficulties in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008872
3 full cheeks 59 32 hallmark (90%) Very frequent (99-80%) HP:0000293
4 progressive visual loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0000529
5 abnormality of the voice 59 32 occasional (7.5%) Occasional (29-5%) HP:0001608
6 abnormality of dental morphology 59 32 frequent (33%) Frequent (79-30%) HP:0006482
7 obstructive sleep apnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002870
8 proptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000520
9 bone cyst 59 32 hallmark (90%) Very frequent (99-80%) HP:0012062
10 broad jaw 59 32 hallmark (90%) Very frequent (99-80%) HP:0012802
11 upper airway obstruction 59 32 occasional (7.5%) Occasional (29-5%) HP:0002781
12 oligodontia 59 32 frequent (33%) Frequent (79-30%) HP:0000677
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 lower eyelid retraction 32 HP:0030802
22 macular scar 32 HP:0200056
23 marcus gunn pupil 32 HP:0200057

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 behavior/neurological MP:0005386 10.09 CSF1 FGFR3 PTPN11 SH3BP2 SRC TNFSF11
3 cellular MP:0005384 10.08 CSF1 FGFR3 NFATC1 PTPN11 SH3BP2 SRC
4 craniofacial MP:0005382 10.07 CSF1 FGFR3 NFATC1 PTPN11 SH3BP2 SRC
5 hematopoietic system MP:0005397 10.04 CSF1 FGFR3 NFATC1 PTPN11 SH3BP2 SRC
6 integument MP:0010771 10.03 CSF1 FGFR3 NFATC1 PTPN11 SH3BP2 SRC
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 History of Cherubism Observational Study Completed NCT01916772
2 Genetic and Functional Analysis of Cherubism 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, Lymph Node, Bone Marrow, Ovary, B Cells, Myeloid

Publications for Cherubism

Articles related to Cherubism:

(show top 50) (show all 278)
# Title Authors Year
1
Second-Generation SYK Inhibitor Entospletinib Ameliorates Fully Established Inflammation and Bone Destruction in the Cherubism Mouse Model. ( 29669173 )
2018
2
Orphan disease: Cherubism, optic atrophy, and short stature. ( 29692538 )
2018
3
Innovative Surgical Treatment of Severe Cherubism. ( 29787301 )
2018
4
Dandy-Walker Syndrome with Giant Cell Lesions and Cherubism. ( 29963440 )
2018
5
Rescue of a cherubism bone marrow stromal culture phenotype by reducing TGFI^ signaling. ( 29530719 )
2018
6
Unusually Large Brown tumor of Mandible in a Case of Secondary Hyperparathyroidism Mimicking Cherubism. ( 29643674 )
2018
7
Familial cherubism: clinical and radiological features. Case report and review of the literature. ( 30063153 )
2018
8
Orthodontic management of a patient with cherubism: A case report. ( 30173847 )
2018
9
Molecular and cellular characterizations of human cherubism: disease aggressiveness depends on osteoclast differentiation. ( 30236129 )
2018
10
Early detection of cherubism with eventual bilateral progression: a literature review and case report. ( 30287203 )
2018
11
Cherubism mice also deficient in c-Fos exhibit inflammatory bone destruction executed by macrophages that express MMP14 despite the absence of TRAP+ osteoclasts. ( 28914985 )
2017
12
Clinicopathologic and Molecular Characteristics of Familial Cherubism with Associated Odontogenic Tumorous Proliferations. ( 28721660 )
2017
13
Craniofacial and Dental Features in Six Children With Cherubism. ( 28857986 )
2017
14
Nonfamilial cherubism: A case report and review of literature. ( 28479714 )
2017
15
Cherubism with idiopathic gingival enlargement: A rare case report. ( 29551872 )
2017
16
Clinical and genetic analysis of patients with cherubism. ( 28644570 )
2017
17
Cherubism. A case report. ( 27427211 )
2017
18
Non-Familial Cherubism with Bilateral Maxilla and Mandible Involvement - Clinicoradiographic Findings. ( 27588230 )
2016
19
Cherubism: A Case Report with Surgical Intervention. ( 27272835 )
2016
20
Cherubism: An Unusual Study With Long-Term Follow-Up. ( 27315317 )
2016
21
Case Report of Nonfamilial Cherubism in a Toddler: Description of Clinic-Radiographic Features and Osseous-Dental Treatments. ( 28105052 )
2016
22
Defining a new aggressiveness classification and using NFATc1 localization as a prognostic factor in cherubism. ( 27498064 )
2016
23
Early Presentation of Cherubism. ( 27567661 )
2016
24
Bone marrow transplantation improves autoinflammation and inflammatory bone loss in SH3BP2 knock-in cherubism mice. ( 25445458 )
2015
25
Cherubism Study Results May Apply to Common Inflammatory Bone Diseases. ( 26473261 )
2015
26
Ophthalmic manifestations of cherubism. ( 25727591 )
2015
27
The calcineurin inhibitor tacrolimus as a new therapy in severe cherubism. ( 25491283 )
2015
28
Cherubism in sub-saharan Africa: a first case-report in a child. ( 25918610 )
2015
29
Recurrent cherubism in an adult patient. ( 25933153 )
2015
30
A case of cherubism with spondyloarthropathy. ( 25960037 )
2015
31
Cherubism With Bilateral Mandible and Maxilla Involvement: A Case Report. ( 26656340 )
2015
32
Oral and Maxillofacial Pathology. Case of Month. Cherubism. ( 26237934 )
2015
33
Cherubism. ( 25606831 )
2015
34
Cherubism: a case report. ( 25861190 )
2015
35
Cherubism misdiagnosed as giant cell tumor: a case report and review of literature. ( 26064398 )
2015
36
Painless bilateral swelling of the face: think about cherubism. ( 26245886 )
2015
37
Late Reactivation of Cherubism in a Patient With New-Onset Polycystic Ovary Syndrome. ( 25957872 )
2015
38
Fibrous dysplasia and cherubism. ( 26933277 )
2015
39
Erratum to: Living with orofacial conditions: psychological distress and quality of life in adults affected with Treacher Collins syndrome, cherubism, or oligodontia/ectodermal dysplasia--a comparative study. ( 25480422 )
2015
40
Cherubism allele heterozygosity amplifies microbe-induced inflammatory responses in murine macrophages. ( 25705883 )
2015
41
Etanercept administration to neonatal SH3BP2 knock-in cherubism mice prevents TNF-I+-induced inflammation and bone loss. ( 24978678 )
2014
42
Orthodontic treatment in cherubism: an overview and a case report. ( 25549525 )
2014
43
Enhanced TLR-MYD88 signaling stimulates autoinflammation in SH3BP2 cherubism mice and defines the etiology of cherubism. ( 25220465 )
2014
44
Cherubism: a case report of a three-generation inheritance and literature review. ( 24280174 )
2014
45
Cherubism: A rare case report. ( 25097445 )
2014
46
A possible case of cherubism in a 17th-century Korean mummy. ( 25093864 )
2014
47
Cherubism: Report of Three Cases and Literature Review. ( 25264591 )
2014
48
Postpubertal cherubism with Noonan syndrome. ( 24718001 )
2014
49
Odontogenic Myxoma of the Face: Mimicry of Cherubism. ( 25200927 )
2014
50
Maxillo-facial radiology case 120. Cherubism. ( 24984391 )
2014

Variations for Cherubism

UniProtKB/Swiss-Prot genetic disease variations for Cherubism:

75
# 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

ClinVar genetic disease variations for Cherubism:

6 (show top 50) (show all 410)
# Gene Variation Type Significance SNP ID Assembly Location
1 SH3BP2 NM_003023.4(SH3BP2): c.-242G> T single nucleotide variant Likely benign rs548710607 GRCh37 Chromosome 4, 2820560: 2820560
2 SH3BP2 NM_003023.4(SH3BP2): c.-242G> T single nucleotide variant Likely benign rs548710607 GRCh38 Chromosome 4, 2818833: 2818833
3 SH3BP2 NM_003023.4(SH3BP2): c.239G> A (p.Arg80Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs147432096 GRCh38 Chromosome 4, 2823037: 2823037
4 SH3BP2 NM_003023.4(SH3BP2): c.239G> A (p.Arg80Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs147432096 GRCh37 Chromosome 4, 2824764: 2824764
5 SH3BP2 NM_003023.4(SH3BP2): c.299A> G (p.His100Arg) single nucleotide variant Likely benign rs142051964 GRCh38 Chromosome 4, 2824672: 2824672
6 SH3BP2 NM_003023.4(SH3BP2): c.299A> G (p.His100Arg) single nucleotide variant Likely benign rs142051964 GRCh37 Chromosome 4, 2826399: 2826399
7 SH3BP2 NM_003023.4(SH3BP2): c.440C> T (p.Ser147Leu) single nucleotide variant Uncertain significance rs150461713 GRCh38 Chromosome 4, 2827241: 2827241
8 SH3BP2 NM_003023.4(SH3BP2): c.440C> T (p.Ser147Leu) single nucleotide variant Uncertain significance rs150461713 GRCh37 Chromosome 4, 2828968: 2828968
9 SH3BP2 NM_003023.4(SH3BP2): c.497C> T (p.Pro166Leu) single nucleotide variant Likely benign rs567769591 GRCh38 Chromosome 4, 2827298: 2827298
10 SH3BP2 NM_003023.4(SH3BP2): c.497C> T (p.Pro166Leu) single nucleotide variant Likely benign rs567769591 GRCh37 Chromosome 4, 2829025: 2829025
11 SH3BP2 NM_003023.4(SH3BP2): c.528C> T (p.His176=) single nucleotide variant Uncertain significance rs138986397 GRCh38 Chromosome 4, 2827616: 2827616
12 SH3BP2 NM_003023.4(SH3BP2): c.528C> T (p.His176=) single nucleotide variant Uncertain significance rs138986397 GRCh37 Chromosome 4, 2829343: 2829343
13 SH3BP2 NM_003023.4(SH3BP2): c.1150C> T (p.Arg384Trp) single nucleotide variant Likely benign rs529543434 GRCh38 Chromosome 4, 2830056: 2830056
14 SH3BP2 NM_003023.4(SH3BP2): c.1150C> T (p.Arg384Trp) single nucleotide variant Likely benign rs529543434 GRCh37 Chromosome 4, 2831783: 2831783
15 SH3BP2 NM_003023.4(SH3BP2): c.*102G> T single nucleotide variant Likely benign rs183257237 GRCh37 Chromosome 4, 2835663: 2835663
16 SH3BP2 NM_003023.4(SH3BP2): c.*102G> T single nucleotide variant Likely benign rs183257237 GRCh38 Chromosome 4, 2833936: 2833936
17 SH3BP2 NM_003023.4(SH3BP2): c.*128T> C single nucleotide variant Uncertain significance rs886059359 GRCh37 Chromosome 4, 2835689: 2835689
18 SH3BP2 NM_003023.4(SH3BP2): c.*128T> C single nucleotide variant Uncertain significance rs886059359 GRCh38 Chromosome 4, 2833962: 2833962
19 SH3BP2 NM_003023.4(SH3BP2): c.*162G> A single nucleotide variant Likely benign rs61791176 GRCh37 Chromosome 4, 2835723: 2835723
20 SH3BP2 NM_003023.4(SH3BP2): c.*162G> A single nucleotide variant Likely benign rs61791176 GRCh38 Chromosome 4, 2833996: 2833996
21 SH3BP2 NM_003023.4(SH3BP2): c.*742C> A single nucleotide variant Likely benign rs535270976 GRCh37 Chromosome 4, 2836303: 2836303
22 SH3BP2 NM_003023.4(SH3BP2): c.*742C> A single nucleotide variant Likely benign rs535270976 GRCh38 Chromosome 4, 2834576: 2834576
23 SH3BP2 NM_003023.4(SH3BP2): c.*821A> G single nucleotide variant Uncertain significance rs886059362 GRCh38 Chromosome 4, 2834655: 2834655
24 SH3BP2 NM_003023.4(SH3BP2): c.*821A> G single nucleotide variant Uncertain significance rs886059362 GRCh37 Chromosome 4, 2836382: 2836382
25 SH3BP2 NM_003023.4(SH3BP2): c.*1067C> T single nucleotide variant Benign rs231394 GRCh38 Chromosome 4, 2834901: 2834901
26 SH3BP2 NM_003023.4(SH3BP2): c.*1067C> T single nucleotide variant Benign rs231394 GRCh37 Chromosome 4, 2836628: 2836628
27 SH3BP2 NM_003023.4(SH3BP2): c.*1318T> C single nucleotide variant Benign rs57162329 GRCh38 Chromosome 4, 2835152: 2835152
28 SH3BP2 NM_003023.4(SH3BP2): c.*1318T> C single nucleotide variant Benign rs57162329 GRCh37 Chromosome 4, 2836879: 2836879
29 SH3BP2 NM_003023.4(SH3BP2): c.*1361C> G single nucleotide variant Likely benign rs142486836 GRCh38 Chromosome 4, 2835195: 2835195
30 SH3BP2 NM_003023.4(SH3BP2): c.*1361C> G single nucleotide variant Likely benign rs142486836 GRCh37 Chromosome 4, 2836922: 2836922
31 SH3BP2 NM_003023.4(SH3BP2): c.*1655C> T single nucleotide variant Likely benign rs563251509 GRCh38 Chromosome 4, 2835489: 2835489
32 SH3BP2 NM_003023.4(SH3BP2): c.*1655C> T single nucleotide variant Likely benign rs563251509 GRCh37 Chromosome 4, 2837216: 2837216
33 SH3BP2 NM_001122681.1(SH3BP2): c.1259G> A (p.Gly420Glu) single nucleotide variant Pathogenic rs28938171 GRCh38 Chromosome 4, 2831588: 2831588
34 SH3BP2 NM_001122681.1(SH3BP2): c.1259G> A (p.Gly420Glu) single nucleotide variant Pathogenic rs28938171 GRCh37 Chromosome 4, 2833315: 2833315
35 SH3BP2 NM_001122681.1(SH3BP2): c.1258G> C (p.Gly420Arg) single nucleotide variant Pathogenic rs28938170 GRCh38 Chromosome 4, 2831587: 2831587
36 SH3BP2 NM_001122681.1(SH3BP2): c.1258G> C (p.Gly420Arg) single nucleotide variant Pathogenic rs28938170 GRCh37 Chromosome 4, 2833314: 2833314
37 SH3BP2 NM_001122681.1(SH3BP2): c.1244G> A (p.Arg415Gln) single nucleotide variant Pathogenic rs121909149 GRCh38 Chromosome 4, 2831573: 2831573
38 SH3BP2 NM_001122681.1(SH3BP2): c.1244G> A (p.Arg415Gln) single nucleotide variant Pathogenic rs121909149 GRCh37 Chromosome 4, 2833300: 2833300
39 SH3BP2 NM_001122681.1(SH3BP2): c.1244G> C (p.Arg415Pro) single nucleotide variant Pathogenic rs121909149 GRCh38 Chromosome 4, 2831573: 2831573
40 SH3BP2 NM_001122681.1(SH3BP2): c.1244G> C (p.Arg415Pro) single nucleotide variant Pathogenic rs121909149 GRCh37 Chromosome 4, 2833300: 2833300
41 SH3BP2 NM_001122681.1(SH3BP2): c.1253C> A (p.Pro418His) single nucleotide variant Pathogenic rs121909146 GRCh38 Chromosome 4, 2831582: 2831582
42 SH3BP2 NM_001122681.1(SH3BP2): c.1253C> A (p.Pro418His) single nucleotide variant Pathogenic rs121909146 GRCh37 Chromosome 4, 2833309: 2833309
43 SH3BP2 NM_003023.4(SH3BP2): c.1253C> G (p.Pro418Arg) single nucleotide variant Pathogenic rs121909146 GRCh38 Chromosome 4, 2831582: 2831582
44 SH3BP2 NM_003023.4(SH3BP2): c.1253C> G (p.Pro418Arg) single nucleotide variant Pathogenic rs121909146 GRCh37 Chromosome 4, 2833309: 2833309
45 SH3BP2 NM_001122681.1(SH3BP2): c.1253C> T (p.Pro418Leu) single nucleotide variant Pathogenic rs121909146 GRCh38 Chromosome 4, 2831582: 2831582
46 SH3BP2 NM_001122681.1(SH3BP2): c.1253C> T (p.Pro418Leu) single nucleotide variant Pathogenic rs121909146 GRCh37 Chromosome 4, 2833309: 2833309
47 SH3BP2 NM_003023.4(SH3BP2): c.750T> G (p.Ala250=) single nucleotide variant Benign rs231399 GRCh37 Chromosome 4, 2831383: 2831383
48 SH3BP2 NM_003023.4(SH3BP2): c.750T> G (p.Ala250=) single nucleotide variant Benign rs231399 GRCh38 Chromosome 4, 2829656: 2829656
49 SH3BP2 NM_003023.4(SH3BP2): c.586+8G> A single nucleotide variant Benign rs28516876 GRCh37 Chromosome 4, 2829409: 2829409
50 SH3BP2 NM_003023.4(SH3BP2): c.586+8G> A single nucleotide variant Benign rs28516876 GRCh38 Chromosome 4, 2827682: 2827682

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 28)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.91 CSF1 FGFR3 PTPN11 SRC TNFSF11
2
Show member pathways
12.79 CSF1 FGFR3 PTPN11 SRC TNFSF11
3
Show member pathways
12.34 FGFR3 PTPN11 SRC
4
Show member pathways
12.3 PTPN11 SRC TNKS
5
Show member pathways
12.26 NFATC1 PTPN11 SH3BP2
6
Show member pathways
12.2 PTPN11 SRC TNFSF11
7
Show member pathways
12.15 FGFR3 PTPN11 SRC
8
Show member pathways
12.1 NFATC1 SRC TNFSF11
9
Show member pathways
12.1 CSF1 FGFR3 PTPN11 SRC
10
Show member pathways
12.06 NFATC1 PTPN11 SRC
11
Show member pathways
12.03 NFATC1 PTPN11 SH3BP2
12
Show member pathways
11.92 FGFR3 PTPN11 SRC
13
Show member pathways
11.78 NFATC1 PTPN11 SRC
14 11.54 CSF1 NFATC1 TNFSF11
15
Show member pathways
11.51 NFATC1 PTPN11 SRC TNFSF11
16 11.37 PTPN11 SRC
17 11.32 CSF1 SRC
18 11.3 CSF1 TNFSF11
19 11.28 PTPN11 SRC
20 11.27 PTPN11 SRC
21 11.25 NFATC1 PTPN11
22 11.24 FGFR3 SRC
23 11.21 PTPN11 SRC
24
Show member pathways
11.17 CSF1 SRC
25 11.14 PTPN11 SRC
26 11.09 PTPN11 SRC
27 10.83 PTPN11 SRC
28 10.46 CSF1 PTPN11 SRC

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 BABAM1 NFATC1 TNKS

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.72 CSF1 PTPN11 TNFSF11
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.71 FGFR3 PTPN11 SRC
3 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.58 FGFR3 PTPN11
4 T cell costimulation GO:0031295 9.57 PTPN11 SRC
5 epidermal growth factor receptor signaling pathway GO:0007173 9.56 PTPN11 SRC
6 homeostasis of number of cells within a tissue GO:0048873 9.52 CSF1 PTPN11
7 osteoclast differentiation GO:0030316 9.51 CSF1 TNFSF11
8 phosphatidylinositol phosphorylation GO:0046854 9.5 FGFR3 PTPN11 SRC
9 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.49 FGFR3 SRC
10 bone resorption GO:0045453 9.48 SRC TNFSF11
11 positive regulation of osteoclast differentiation GO:0045672 9.46 CSF1 TNFSF11
12 neurotrophin TRK receptor signaling pathway GO:0048011 9.43 PTPN11 SRC
13 positive regulation of insulin receptor signaling pathway GO:0046628 9.4 PTPN11 SRC
14 branching involved in mammary gland duct morphogenesis GO:0060444 9.37 CSF1 SRC
15 positive regulation of intracellular signal transduction GO:1902533 9.26 SRC TNFSF11
16 osteoclast development GO:0036035 9.16 SRC TNFSF11
17 osteoclast proliferation GO:0002158 8.96 CSF1 TNFSF11
18 positive regulation of protein kinase B signaling GO:0051897 8.92 FGFR3 PTPN11 SRC TNFSF11

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

# Name GO ID Score Top Affiliating Genes
1 1-phosphatidylinositol-3-kinase activity GO:0016303 9.32 FGFR3 PTPN11
2 phosphotyrosine residue binding GO:0001784 9.26 PTPN11 SH3BP2
3 insulin receptor binding GO:0005158 9.16 PTPN11 SRC
4 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.13 FGFR3 PTPN11 SRC
5 SH3/SH2 adaptor activity GO:0005070 8.8 PTPN11 SH3BP2 SRC
6 protein binding GO:0005515 10.02 BABAM1 CSF1 FGFR3 NFATC1 PTPN11 SH3BP2

Sources for Cherubism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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