CRBM
MCID: CHR003
MIFTS: 56

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 58 12 77 25 54 26 60 76 38 13 56 45 15 74
Crbm 58 54 60 76
Familial Multilocular Cystic Disease of the Jaws 26
Familial Benign Giant-Cell Tumor of the Jaw 26
Familial Fibrous Dysplasia of Jaw 26

Characteristics:

Orphanet epidemiological data:

60
cherubism
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
cherubism:
Onset and clinical course childhood onset
Inheritance autosomal dominant inheritance


GeneReviews:

25
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 58 118400
KEGG 38 H00497
MeSH 45 D002636
NCIt 51 C84630
SNOMED-CT 69 53432004 76098004
ICD10 34 M27.8
MESH via Orphanet 46 D002636
ICD10 via Orphanet 35 K10.8
UMLS via Orphanet 75 C0008029
Orphanet 60 ORPHA184
MedGen 43 C0008029
UMLS 74 C0008029

Summaries for Cherubism

Genetics Home Reference : 26 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 ovary, and related phenotypes are full cheeks and bone cyst

NIH Rare Diseases : 54 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 : 76 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 : 77 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 top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 bone disease 28.7 CSF1 FGFR3 NFATC1 SRC TNFSF11
2 ramon syndrome 12.1
3 al gazali khidr prem chandran syndrome 11.5
4 fibrous dysplasia 10.4
5 giant cell reparative granuloma 10.2
6 noonan syndrome 1 10.2
7 gingival fibromatosis 10.2
8 giant cell tumor 10.2
9 fibromatosis 10.2
10 pseudo-turner syndrome 10.2
11 villonodular synovitis 10.1 PTPN11 TNFSF11
12 treacher collins syndrome 1 10.0
13 neurofibromatosis, type i 10.0
14 neurofibromatosis, type iv, of riccardi 10.0
15 3-methylglutaconic aciduria, type iii 10.0
16 aneurysmal bone cysts 10.0
17 ectodermal dysplasia 10.0
18 tooth agenesis 10.0
19 hyperparathyroidism 10.0
20 epilepsy 10.0
21 bone resorption disease 10.0 NFATC1 TNFSF11
22 bone remodeling disease 10.0 NFATC1 TNFSF11
23 osteopetrosis, autosomal recessive 7 9.9 CSF1 TNFSF11
24 multicentric reticulohistiocytosis 9.9 CSF1 TNFSF11
25 mandibular cancer 9.9 CSF1 TNFSF11
26 myositis 9.9
27 rheumatoid arthritis 9.9
28 triiodothyronine receptor auxiliary protein 9.9
29 dandy-walker syndrome 9.9
30 retinitis pigmentosa 9.9
31 fragile x syndrome 9.9
32 arthritis 9.9
33 craniosynostosis 9.9
34 polycystic ovary syndrome 9.9
35 sleep apnea 9.9
36 fibroma 9.9
37 spondyloarthropathy 9.9
38 secondary hyperparathyroidism 9.9
39 optic nerve disease 9.9
40 gingival overgrowth 9.9
41 malignant mesenchymoma 9.9
42 myositis ossificans 9.9
43 juvenile rheumatoid arthritis 9.9
44 neuropathy 9.9
45 odontogenic myxoma 9.9
46 joint disorders 9.9 CSF1 TNFSF11
47 endosteal hyperostosis, autosomal dominant 9.8 CSF1 TNFSF11
48 myeloma, multiple 9.8 FGFR3 PTPN11 TNFSF11
49 langerhans cell histiocytosis 9.7 CSF1 TNFSF11
50 osteopetrosis 9.7 CSF1 SRC TNFSF11

Graphical network of the top 20 diseases related to Cherubism:



Diseases related to Cherubism

Symptoms & Phenotypes for Cherubism

Human phenotypes related to Cherubism:

60 33 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 full cheeks 60 33 hallmark (90%) Very frequent (99-80%) HP:0000293
2 bone cyst 60 33 hallmark (90%) Very frequent (99-80%) HP:0012062
3 broad jaw 60 33 hallmark (90%) Very frequent (99-80%) HP:0012802
4 abnormality of dental morphology 60 33 frequent (33%) Frequent (79-30%) HP:0006482
5 oligodontia 60 33 frequent (33%) Frequent (79-30%) HP:0000677
6 optic atrophy 60 33 occasional (7.5%) Occasional (29-5%) HP:0000648
7 feeding difficulties in infancy 60 33 occasional (7.5%) Occasional (29-5%) HP:0008872
8 progressive visual loss 60 33 occasional (7.5%) Occasional (29-5%) HP:0000529
9 abnormality of the voice 60 33 occasional (7.5%) Occasional (29-5%) HP:0001608
10 obstructive sleep apnea 60 33 occasional (7.5%) Occasional (29-5%) HP:0002870
11 proptosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000520
12 upper airway obstruction 60 33 occasional (7.5%) Occasional (29-5%) HP:0002781
13 abnormality of the dentition 60 Frequent (79-30%)
14 visual impairment 60 Occasional (29-5%)
15 reduced visual acuity 33 HP:0007663
16 striae distensae 33 HP:0001065
17 round face 33 HP:0000311
18 optic neuropathy 33 HP:0001138
19 constriction of peripheral visual field 33 HP:0001133
20 abnormality of the mandible 60 Very frequent (99-80%)
21 lower eyelid retraction 33 HP:0030802
22 macular scar 33 HP:0200056
23 marcus gunn pupil 33 HP:0200057

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Cherubism:

47 (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 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:

42
Bone, Testes, Ovary, Lymph Node, Bone Marrow, Myeloid, B Cells

Publications for Cherubism

Articles related to Cherubism:

(show top 50) (show all 282)
# Title Authors Year
1
Clinicoradiologic follow up of cherubism with aggressive characteristics: a series of 3 cases. ( 30904497 )
2019
2
A Paradigm Shift in the Management of Cherubism? A Preliminary Report Using Imatinib. ( 30880133 )
2019
3
Cherubism: A Rare Fibro-Osseous Disorder Characterized and Diagnosed by one Stop Imaging with Technetium-99m Methylene Diphosphonate Bone Scintigraphy Integrated with Single-Photon Emission Computed Tomography-Computed Tomography. ( 30713386 )
2019
4
Early detection of cherubism with eventual bilateral progression: a literature review and case report. ( 30287203 )
2019
5
Innovative Surgical Treatment of Severe Cherubism. ( 29787301 )
2019
6
Cherubism in 12 Year Young Female. ( 30693269 )
2018
7
Molecular and cellular characterizations of human cherubism: disease aggressiveness depends on osteoclast differentiation. ( 30236129 )
2018
8
Orthodontic management of a patient with cherubism: A case report. ( 30173847 )
2018
9
Familial cherubism: clinical and radiological features. Case report and review of the literature. ( 30063153 )
2018
10
Dandy-Walker Syndrome with Giant Cell Lesions and Cherubism. ( 29963440 )
2018
11
Orphan disease: Cherubism, optic atrophy, and short stature. ( 29692538 )
2018
12
Second-Generation SYK Inhibitor Entospletinib Ameliorates Fully Established Inflammation and Bone Destruction in the Cherubism Mouse Model. ( 29669173 )
2018
13
Unusually Large Brown tumor of Mandible in a Case of Secondary Hyperparathyroidism Mimicking Cherubism. ( 29643674 )
2018
14
Rescue of a cherubism bone marrow stromal culture phenotype by reducing TGFβ signaling. ( 29530719 )
2018
15
Cherubism Mice Also Deficient in c-Fos Exhibit Inflammatory Bone Destruction Executed by Macrophages That Express MMP14 Despite the Absence of TRAP+ Osteoclasts. ( 28914985 )
2018
16
Clinicopathologic and Molecular Characteristics of Familial Cherubism with Associated Odontogenic Tumorous Proliferations. ( 28721660 )
2018
17
Cherubism with idiopathic gingival enlargement: A rare case report. ( 29551872 )
2017
18
Craniofacial and Dental Features in Six Children With Cherubism. ( 28857986 )
2017
19
Clinical and genetic analysis of patients with cherubism. ( 28644570 )
2017
20
Nonfamilial cherubism: A case report and review of literature. ( 28479714 )
2017
21
Cherubism. A case report. ( 27427211 )
2017
22
Case Report of Nonfamilial Cherubism in a Toddler: Description of Clinic-Radiographic Features and Osseous-Dental Treatments. ( 28105052 )
2016
23
Non-Familial Cherubism with Bilateral Maxilla and Mandible Involvement - Clinicoradiographic Findings. ( 27588230 )
2016
24
Early Presentation of Cherubism. ( 27567661 )
2016
25
Defining a new aggressiveness classification and using NFATc1 localization as a prognostic factor in cherubism. ( 27498064 )
2016
26
Cherubism: An Unusual Study With Long-Term Follow-Up. ( 27315317 )
2016
27
Cherubism: A Case Report with Surgical Intervention. ( 27272835 )
2016
28
Fibrous dysplasia and cherubism. ( 26933277 )
2015
29
Cherubism With Bilateral Mandible and Maxilla Involvement: A Case Report. ( 26656340 )
2015
30
Cherubism Study Results May Apply to Common Inflammatory Bone Diseases. ( 26473261 )
2015
31
Painless bilateral swelling of the face: think about cherubism. ( 26245886 )
2015
32
Oral and Maxillofacial Pathology. Case of Month. Cherubism. ( 26237934 )
2015
33
Cherubism misdiagnosed as giant cell tumor: a case report and review of literature. ( 26064398 )
2015
34
A case of cherubism with spondyloarthropathy. ( 25960037 )
2015
35
Late Reactivation of Cherubism in a Patient With New-Onset Polycystic Ovary Syndrome. ( 25957872 )
2015
36
Recurrent cherubism in an adult patient. ( 25933153 )
2015
37
Cherubism in sub-saharan Africa: a first case-report in a child. ( 25918610 )
2015
38
Cherubism: a case report. ( 25861190 )
2015
39
Ophthalmic manifestations of cherubism. ( 25727591 )
2015
40
Cherubism allele heterozygosity amplifies microbe-induced inflammatory responses in murine macrophages. ( 25705883 )
2015
41
Cherubism. ( 25606831 )
2015
42
The calcineurin inhibitor tacrolimus as a new therapy in severe cherubism. ( 25491283 )
2015
43
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
44
Bone marrow transplantation improves autoinflammation and inflammatory bone loss in SH3BP2 knock-in cherubism mice. ( 25445458 )
2015
45
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. ( 25344415 )
2015
46
Cherubism: report of three cases and literature review. ( 25264591 )
2015
47
Cherubism: a case report of a three-generation inheritance and literature review. ( 24280174 )
2014
48
A c.1244G>A (p.Arg415Gln) mutation in SH3BP2 gene causes cherubism in a Turkish family: report of a family with review of the literature. ( 24608212 )
2014
49
Non-familial cherubism: clinical and radiological findings. ( 24695657 )
2014
50
Postpubertal cherubism with Noonan syndrome. ( 24718001 )
2014

Variations for Cherubism

UniProtKB/Swiss-Prot genetic disease variations for Cherubism:

76
# 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 412)
# Gene Variation Type Significance SNP ID Assembly Location
1 SH3BP2 NM_001122681.1(SH3BP2): c.1253C> T (p.Pro418Leu) single nucleotide variant Pathogenic rs121909146 GRCh37 Chromosome 4, 2833309: 2833309
2 SH3BP2 NM_001122681.1(SH3BP2): c.1253C> T (p.Pro418Leu) single nucleotide variant Pathogenic rs121909146 GRCh38 Chromosome 4, 2831582: 2831582
3 SH3BP2 NM_003023.4(SH3BP2): c.1253C> G (p.Pro418Arg) single nucleotide variant Pathogenic rs121909146 GRCh37 Chromosome 4, 2833309: 2833309
4 SH3BP2 NM_003023.4(SH3BP2): c.1253C> G (p.Pro418Arg) single nucleotide variant Pathogenic rs121909146 GRCh38 Chromosome 4, 2831582: 2831582
5 SH3BP2 NM_001122681.1(SH3BP2): c.1253C> A (p.Pro418His) single nucleotide variant Pathogenic rs121909146 GRCh37 Chromosome 4, 2833309: 2833309
6 SH3BP2 NM_001122681.1(SH3BP2): c.1253C> A (p.Pro418His) single nucleotide variant Pathogenic rs121909146 GRCh38 Chromosome 4, 2831582: 2831582
7 SH3BP2 NM_001122681.1(SH3BP2): c.1244G> C (p.Arg415Pro) single nucleotide variant Pathogenic rs121909149 GRCh37 Chromosome 4, 2833300: 2833300
8 SH3BP2 NM_001122681.1(SH3BP2): c.1244G> C (p.Arg415Pro) single nucleotide variant Pathogenic rs121909149 GRCh38 Chromosome 4, 2831573: 2831573
9 SH3BP2 NM_001122681.1(SH3BP2): c.1244G> A (p.Arg415Gln) single nucleotide variant Pathogenic rs121909149 GRCh37 Chromosome 4, 2833300: 2833300
10 SH3BP2 NM_001122681.1(SH3BP2): c.1244G> A (p.Arg415Gln) single nucleotide variant Pathogenic rs121909149 GRCh38 Chromosome 4, 2831573: 2831573
11 SH3BP2 NM_001122681.1(SH3BP2): c.1258G> C (p.Gly420Arg) single nucleotide variant Pathogenic rs28938170 GRCh37 Chromosome 4, 2833314: 2833314
12 SH3BP2 NM_001122681.1(SH3BP2): c.1258G> C (p.Gly420Arg) single nucleotide variant Pathogenic rs28938170 GRCh38 Chromosome 4, 2831587: 2831587
13 SH3BP2 NM_001122681.1(SH3BP2): c.1259G> A (p.Gly420Glu) single nucleotide variant Pathogenic rs28938171 GRCh37 Chromosome 4, 2833315: 2833315
14 SH3BP2 NM_001122681.1(SH3BP2): c.1259G> A (p.Gly420Glu) single nucleotide variant Pathogenic rs28938171 GRCh38 Chromosome 4, 2831588: 2831588
15 SH3BP2 NM_003023.4(SH3BP2): c.123G> T (p.Leu41=) single nucleotide variant Benign rs231402 GRCh38 Chromosome 4, 2820740: 2820740
16 SH3BP2 NM_003023.4(SH3BP2): c.123G> T (p.Leu41=) single nucleotide variant Benign rs231402 GRCh37 Chromosome 4, 2822467: 2822467
17 SH3BP2 NM_003023.4(SH3BP2): c.300T> C (p.His100=) single nucleotide variant Benign rs3213501 GRCh38 Chromosome 4, 2824673: 2824673
18 SH3BP2 NM_003023.4(SH3BP2): c.300T> C (p.His100=) single nucleotide variant Benign rs3213501 GRCh37 Chromosome 4, 2826400: 2826400
19 SH3BP2 NM_003023.4(SH3BP2): c.357+15G> T single nucleotide variant Benign rs62620003 GRCh37 Chromosome 4, 2826472: 2826472
20 SH3BP2 NM_003023.4(SH3BP2): c.357+15G> T single nucleotide variant Benign rs62620003 GRCh38 Chromosome 4, 2824745: 2824745
21 SH3BP2 NM_003023.4(SH3BP2): c.417C> G (p.Pro139=) single nucleotide variant Benign rs16843413 GRCh38 Chromosome 4, 2825185: 2825185
22 SH3BP2 NM_003023.4(SH3BP2): c.417C> G (p.Pro139=) single nucleotide variant Benign rs16843413 GRCh37 Chromosome 4, 2826912: 2826912
23 SH3BP2 NM_003023.4(SH3BP2): c.586+8G> A single nucleotide variant Benign rs28516876 GRCh38 Chromosome 4, 2827682: 2827682
24 SH3BP2 NM_003023.4(SH3BP2): c.586+8G> A single nucleotide variant Benign rs28516876 GRCh37 Chromosome 4, 2829409: 2829409
25 SH3BP2 NM_003023.4(SH3BP2): c.750T> G (p.Ala250=) single nucleotide variant Benign rs231399 GRCh38 Chromosome 4, 2829656: 2829656
26 SH3BP2 NM_003023.4(SH3BP2): c.750T> G (p.Ala250=) single nucleotide variant Benign rs231399 GRCh37 Chromosome 4, 2831383: 2831383
27 SH3BP2 NM_003023.4(SH3BP2): c.-242G> T single nucleotide variant Likely benign rs548710607 GRCh38 Chromosome 4, 2818833: 2818833
28 SH3BP2 NM_003023.4(SH3BP2): c.-242G> T single nucleotide variant Likely benign rs548710607 GRCh37 Chromosome 4, 2820560: 2820560
29 SH3BP2 NM_003023.4(SH3BP2): c.239G> A (p.Arg80Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs147432096 GRCh38 Chromosome 4, 2823037: 2823037
30 SH3BP2 NM_003023.4(SH3BP2): c.239G> A (p.Arg80Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs147432096 GRCh37 Chromosome 4, 2824764: 2824764
31 SH3BP2 NM_003023.4(SH3BP2): c.299A> G (p.His100Arg) single nucleotide variant Likely benign rs142051964 GRCh38 Chromosome 4, 2824672: 2824672
32 SH3BP2 NM_003023.4(SH3BP2): c.299A> G (p.His100Arg) single nucleotide variant Likely benign rs142051964 GRCh37 Chromosome 4, 2826399: 2826399
33 SH3BP2 NM_003023.4(SH3BP2): c.440C> T (p.Ser147Leu) single nucleotide variant Uncertain significance rs150461713 GRCh38 Chromosome 4, 2827241: 2827241
34 SH3BP2 NM_003023.4(SH3BP2): c.440C> T (p.Ser147Leu) single nucleotide variant Uncertain significance rs150461713 GRCh37 Chromosome 4, 2828968: 2828968
35 SH3BP2 NM_003023.4(SH3BP2): c.497C> T (p.Pro166Leu) single nucleotide variant Likely benign rs567769591 GRCh38 Chromosome 4, 2827298: 2827298
36 SH3BP2 NM_003023.4(SH3BP2): c.497C> T (p.Pro166Leu) single nucleotide variant Likely benign rs567769591 GRCh37 Chromosome 4, 2829025: 2829025
37 SH3BP2 NM_003023.4(SH3BP2): c.528C> T (p.His176=) single nucleotide variant Uncertain significance rs138986397 GRCh38 Chromosome 4, 2827616: 2827616
38 SH3BP2 NM_003023.4(SH3BP2): c.528C> T (p.His176=) single nucleotide variant Uncertain significance rs138986397 GRCh37 Chromosome 4, 2829343: 2829343
39 SH3BP2 NM_003023.4(SH3BP2): c.1150C> T (p.Arg384Trp) single nucleotide variant Likely benign rs529543434 GRCh38 Chromosome 4, 2830056: 2830056
40 SH3BP2 NM_003023.4(SH3BP2): c.1150C> T (p.Arg384Trp) single nucleotide variant Likely benign rs529543434 GRCh37 Chromosome 4, 2831783: 2831783
41 SH3BP2 NM_003023.4(SH3BP2): c.*102G> T single nucleotide variant Likely benign rs183257237 GRCh38 Chromosome 4, 2833936: 2833936
42 SH3BP2 NM_003023.4(SH3BP2): c.*102G> T single nucleotide variant Likely benign rs183257237 GRCh37 Chromosome 4, 2835663: 2835663
43 SH3BP2 NM_003023.4(SH3BP2): c.*128T> C single nucleotide variant Uncertain significance rs886059359 GRCh38 Chromosome 4, 2833962: 2833962
44 SH3BP2 NM_003023.4(SH3BP2): c.*128T> C single nucleotide variant Uncertain significance rs886059359 GRCh37 Chromosome 4, 2835689: 2835689
45 SH3BP2 NM_003023.4(SH3BP2): c.*162G> A single nucleotide variant Likely benign rs61791176 GRCh38 Chromosome 4, 2833996: 2833996
46 SH3BP2 NM_003023.4(SH3BP2): c.*162G> A single nucleotide variant Likely benign rs61791176 GRCh37 Chromosome 4, 2835723: 2835723
47 SH3BP2 NM_003023.4(SH3BP2): c.*742C> A single nucleotide variant Likely benign rs535270976 GRCh38 Chromosome 4, 2834576: 2834576
48 SH3BP2 NM_003023.4(SH3BP2): c.*742C> A single nucleotide variant Likely benign rs535270976 GRCh37 Chromosome 4, 2836303: 2836303
49 SH3BP2 NM_003023.4(SH3BP2): c.*821A> G single nucleotide variant Uncertain significance rs886059362 GRCh38 Chromosome 4, 2834655: 2834655
50 SH3BP2 NM_003023.4(SH3BP2): c.*821A> G single nucleotide variant Uncertain significance rs886059362 GRCh37 Chromosome 4, 2836382: 2836382

Expression for Cherubism

Search GEO for disease gene expression data for Cherubism.

Pathways for Cherubism

Pathways related to Cherubism according to KEGG:

38
# Name Kegg Source Accession
1 Natural killer cell mediated cytotoxicity hsa04650

Pathways related to Cherubism according to GeneCards Suite gene sharing:

(show all 26)
# 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
12.26 NFATC1 PTPN11 SH3BP2
4
Show member pathways
12.2 PTPN11 SRC TNFSF11
5
Show member pathways
12.15 FGFR3 PTPN11 SRC
6
Show member pathways
12.1 NFATC1 SRC TNFSF11
7
Show member pathways
12.1 CSF1 FGFR3 PTPN11 SRC
8
Show member pathways
12.06 NFATC1 PTPN11 SRC
9
Show member pathways
12.03 NFATC1 PTPN11 SH3BP2
10
Show member pathways
11.92 FGFR3 PTPN11 SRC
11
Show member pathways
11.78 NFATC1 PTPN11 SRC
12 11.54 CSF1 NFATC1 TNFSF11
13
Show member pathways
11.51 NFATC1 PTPN11 SRC TNFSF11
14 11.36 PTPN11 SRC
15 11.32 CSF1 SRC
16 11.3 CSF1 TNFSF11
17 11.28 PTPN11 SRC
18 11.27 PTPN11 SRC
19 11.25 NFATC1 PTPN11
20 11.24 FGFR3 SRC
21 11.21 PTPN11 SRC
22
Show member pathways
11.17 CSF1 SRC
23 11.14 PTPN11 SRC
24 11.09 PTPN11 SRC
25 10.83 PTPN11 SRC
26 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 16)
# Name GO ID Score Top Affiliating Genes
1 cytokine-mediated signaling pathway GO:0019221 9.71 CSF1 PTPN11 TNFSF11
2 positive regulation of ERK1 and ERK2 cascade GO:0070374 9.7 FGFR3 PTPN11 SRC
3 T cell costimulation GO:0031295 9.56 PTPN11 SRC
4 epidermal growth factor receptor signaling pathway GO:0007173 9.55 PTPN11 SRC
5 homeostasis of number of cells within a tissue GO:0048873 9.51 CSF1 PTPN11
6 osteoclast differentiation GO:0030316 9.49 CSF1 TNFSF11
7 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.48 FGFR3 SRC
8 bone resorption GO:0045453 9.46 SRC TNFSF11
9 positive regulation of osteoclast differentiation GO:0045672 9.43 CSF1 TNFSF11
10 neurotrophin TRK receptor signaling pathway GO:0048011 9.4 PTPN11 SRC
11 positive regulation of insulin receptor signaling pathway GO:0046628 9.37 PTPN11 SRC
12 branching involved in mammary gland duct morphogenesis GO:0060444 9.32 CSF1 SRC
13 positive regulation of intracellular signal transduction GO:1902533 9.26 SRC TNFSF11
14 osteoclast development GO:0036035 9.16 SRC TNFSF11
15 osteoclast proliferation GO:0002158 8.96 CSF1 TNFSF11
16 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 protein binding GO:0005515 9.91 BABAM1 CSF1 FGFR3 NFATC1 PTPN11 SH3BP2
2 phosphotyrosine residue binding GO:0001784 9.16 PTPN11 SH3BP2
3 insulin receptor binding GO:0005158 8.96 PTPN11 SRC
4 SH3/SH2 adaptor activity GO:0005070 8.8 PTPN11 SH3BP2 SRC

Sources for Cherubism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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