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CRBM
MCID: CHR003
MIFTS: 56

Cherubism (CRBM)

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases, Blood diseases, Oral diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Cherubism

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Bone diseases Blood diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare systemic and rhumatological diseases
Rare bone diseases
Developmental anomalies during embryogenesis
Rare immunological diseases
Rare odontological diseases


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
Sources

Summaries for Cherubism

About this section
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 noonan syndrome 1 and bone disease. An important gene associated with Cherubism is SH3BP2 (SH3 Domain Binding Protein 2), and among its related pathways/superpathways are Cytokine Signaling in Immune system and PAK Pathway. Affiliated tissues include bone, testes and lymph node, and related phenotypes are visual impairment and optic atrophy

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
Sources

Related Diseases for Cherubism

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

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 noonan syndrome 1 29.6 PTPN11 SH3BP2 SRC
2 bone disease 27.2 CSF1 FGFR3 NFATC1 SRC TNFSF11
3 ramon syndrome 11.5
4 al gazali khidr prem chandran syndrome 11.3
5 noonan-like/multiple giant cell lesion syndrome 11.0
6 chondroblastoma 10.3 FGFR3 TNFSF11
7 fibrous dysplasia 10.2
8 villonodular synovitis 10.2 PTPN11 TNFSF11
9 gingivitis 10.0
10 bone resorption disease 10.0 NFATC1 TNFSF11
11 gingival fibromatosis 10.0
12 giant cell tumor 10.0
13 fibromatosis 10.0
14 pseudo-turner syndrome 10.0
15 bone remodeling disease 9.9 NFATC1 TNFSF11
16 multicentric reticulohistiocytosis 9.9 CSF1 TNFSF11
17 neurofibromatosis, type i 9.8
18 neurofibromatosis, type iv, of riccardi 9.8
19 3-methylglutaconic aciduria, type iii 9.8
20 aneurysmal bone cysts 9.8
21 hyperparathyroidism 9.8
22 epilepsy 9.8
23 giant cell reparative granuloma 9.8
24 aneurysm 9.8
25 mandibular cancer 9.8 CSF1 TNFSF11
26 jaw cancer 9.8 CSF1 TNFSF11
27 myeloma, multiple 9.7 FGFR3 PTPN11 TNFSF11
28 joint disorders 9.7 CSF1 TNFSF11
29 apnea, obstructive sleep 9.7
30 treacher collins syndrome 1 9.7
31 myositis 9.7
32 rheumatoid arthritis 9.7
33 dandy-walker syndrome 9.7
34 fragile x syndrome 9.7
35 arthritis 9.7
36 craniosynostosis 9.7
37 ectodermal dysplasia 9.7
38 polycystic ovary syndrome 9.7
39 sleep apnea 9.7
40 spondyloarthropathy 9.7
41 secondary hyperparathyroidism of renal origin 9.7
42 optic nerve disease 9.7
43 sleep disorder 9.7
44 malignant mesenchymoma 9.7
45 myositis ossificans 9.7
46 juvenile rheumatoid arthritis 9.7
47 neuropathy 9.7
48 chorioretinitis 9.7
49 odontogenic myxoma 9.7
50 endosteal hyperostosis, autosomal dominant 9.6 CSF1 TNFSF11

Graphical network of the top 20 diseases related to Cherubism:



Diseases related to Cherubism
Sources

Symptoms & Phenotypes for Cherubism

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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 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
2 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
3 feeding difficulties in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008872
4 full cheeks 59 32 hallmark (90%) Very frequent (99-80%) HP:0000293
5 progressive visual loss 59 32 occasional (7.5%) Occasional (29-5%) HP:0000529
6 abnormality of the voice 59 32 occasional (7.5%) Occasional (29-5%) HP:0001608
7 abnormality of dental morphology 59 32 frequent (33%) Frequent (79-30%) HP:0006482
8 obstructive sleep apnea 59 32 occasional (7.5%) Occasional (29-5%) HP:0002870
9 proptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000520
10 bone cyst 59 32 hallmark (90%) Very frequent (99-80%) HP:0012062
11 broad jaw 59 32 hallmark (90%) Very frequent (99-80%) HP:0012802
12 upper airway obstruction 59 32 occasional (7.5%) Occasional (29-5%) HP:0002781
13 oligodontia 59 32 frequent (33%) Frequent (79-30%) HP:0000677
14 abnormality of the dentition 59 Frequent (79-30%)
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 abnormality of the mandible 59 Very frequent (99-80%)
20 lower eyelid retraction 32 HP:0030802
21 constriction of peripheral visual field 32 HP:0001133
22 macular scar 32 HP:0200056
23 marcus gunn pupil 32 HP:0200057

MGI Mouse Phenotypes related to Cherubism:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.1 CSF1 FGFR3 NFATC1 PTPN11 SH3BP2 SRC
2 behavior/neurological MP:0005386 10.08 CSF1 FGFR3 PTPN11 SH3BP2 SRC TNFSF11
3 cellular MP:0005384 10.07 CSF1 FGFR3 NFATC1 PTPN11 SH3BP2 SRC
4 craniofacial MP:0005382 10.05 FGFR3 NFATC1 PTPN11 SH3BP2 SRC TNFSF11
5 integument MP:0010771 10.03 CSF1 FGFR3 NFATC1 PTPN11 SH3BP2 SRC
6 hematopoietic system MP:0005397 10.02 PTPN11 SH3BP2 SRC TNFSF11 CSF1 FGFR3
7 immune system MP:0005387 10 CSF1 FGFR3 NFATC1 PTPN11 SH3BP2 SRC
8 mortality/aging MP:0010768 9.97 CSF1 FGFR3 NFATC1 PTPN11 SH3BP2 SRC
9 limbs/digits/tail MP:0005371 9.95 CSF1 FGFR3 NFATC1 PTPN11 SH3BP2 SRC
10 muscle MP:0005369 9.8 SH3BP2 TNFSF11 TNKS CSF1 NFATC1 PTPN11
11 no phenotypic analysis MP:0003012 9.73 CSF1 FGFR3 NFATC1 PTPN11 TNFSF11 TNKS
12 respiratory system MP:0005388 9.7 CSF1 FGFR3 NFATC1 PTPN11 SH3BP2 SRC
13 skeleton MP:0005390 9.5 CSF1 FGFR3 NFATC1 PTPN11 SH3BP2 SRC
14 vision/eye MP:0005391 9.1 CSF1 FGFR3 PTPN11 SH3BP2 SRC TNFSF11
Sources

Drugs & Therapeutics for Cherubism

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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

Sources

Genetic Tests for Cherubism

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Sources

Anatomical Context for Cherubism

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MalaCards organs/tissues related to Cherubism:

41
Bone, Testes, Lymph Node, Bone Marrow, Ovary, B Cells
Sources

Publications for Cherubism

About this section

Articles related to Cherubism:

(show top 50) (show all 266)
# 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
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
8
Clinicopathologic and Molecular Characteristics of Familial Cherubism with Associated Odontogenic Tumorous Proliferations. ( 28721660 )
2017
9
Craniofacial and Dental Features in Six Children With Cherubism. ( 28857986 )
2017
10
Nonfamilial cherubism: A case report and review of literature. ( 28479714 )
2017
11
Cherubism with idiopathic gingival enlargement: A rare case report. ( 29551872 )
2017
12
Clinical and genetic analysis of patients with cherubism. ( 28644570 )
2017
13
Non-Familial Cherubism with Bilateral Maxilla and Mandible Involvement - Clinicoradiographic Findings. ( 27588230 )
2016
14
Cherubism: A Case Report with Surgical Intervention. ( 27272835 )
2016
15
Cherubism: An Unusual Study With Long-Term Follow-Up. ( 27315317 )
2016
16
Case Report of Nonfamilial Cherubism in a Toddler: Description of Clinic-Radiographic Features and Osseous-Dental Treatments. ( 28105052 )
2016
17
Defining a new aggressiveness classification and using NFATc1 localization as a prognostic factor in cherubism. ( 27498064 )
2016
18
Early Presentation of Cherubism. ( 27567661 )
2016
19
Cherubism. A case report. ( 27427211 )
2016
20
Bone marrow transplantation improves autoinflammation and inflammatory bone loss in SH3BP2 knock-in cherubism mice. ( 25445458 )
2015
21
Cherubism Study Results May Apply to Common Inflammatory Bone Diseases. ( 26473261 )
2015
22
Ophthalmic manifestations of cherubism. ( 25727591 )
2015
23
The calcineurin inhibitor tacrolimus as a new therapy in severe cherubism. ( 25491283 )
2015
24
Cherubism in sub-saharan Africa: a first case-report in a child. ( 25918610 )
2015
25
Recurrent cherubism in an adult patient. ( 25933153 )
2015
26
A case of cherubism with spondyloarthropathy. ( 25960037 )
2015
27
Cherubism With Bilateral Mandible and Maxilla Involvement: A Case Report. ( 26656340 )
2015
28
Oral and Maxillofacial Pathology. Case of Month. Cherubism. ( 26237934 )
2015
29
Cherubism. ( 25606831 )
2015
30
Cherubism: a case report. ( 25861190 )
2015
31
Cherubism misdiagnosed as giant cell tumor: a case report and review of literature. ( 26064398 )
2015
32
Painless bilateral swelling of the face: think about cherubism. ( 26245886 )
2015
33
Late Reactivation of Cherubism in a Patient With New-Onset Polycystic Ovary Syndrome. ( 25957872 )
2015
34
Fibrous dysplasia and cherubism. ( 26933277 )
2015
35
Cherubism allele heterozygosity amplifies microbe-induced inflammatory responses in murine macrophages. ( 25705883 )
2015
36
Etanercept administration to neonatal SH3BP2 knock-in cherubism mice prevents TNF-I+-induced inflammation and bone loss. ( 24978678 )
2014
37
Orthodontic treatment in cherubism: an overview and a case report. ( 25549525 )
2014
38
Enhanced TLR-MYD88 signaling stimulates autoinflammation in SH3BP2 cherubism mice and defines the etiology of cherubism. ( 25220465 )
2014
39
Cherubism: a case report of a three-generation inheritance and literature review. ( 24280174 )
2014
40
Cherubism: A rare case report. ( 25097445 )
2014
41
A possible case of cherubism in a 17th-century Korean mummy. ( 25093864 )
2014
42
Cherubism: Report of Three Cases and Literature Review. ( 25264591 )
2014
43
Postpubertal cherubism with Noonan syndrome. ( 24718001 )
2014
44
Odontogenic Myxoma of the Face: Mimicry of Cherubism. ( 25200927 )
2014
45
Maxillo-facial radiology case 120. Cherubism. ( 24984391 )
2014
46
Cherubism: a case report. ( 25178340 )
2014
47
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 )
2014
48
Clinicoradiologic features of cherubism: a case report and literature review. ( 25184726 )
2014
49
Cherubism with multiple dental abnormalities: a rare presentation. ( 25301429 )
2014
50
Familial case of cherubism from South India: differential diagnosis and report of 2 cases. ( 25548687 )
2014
Sources

Variations for Cherubism

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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 386)
# 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 GRCh38 Chromosome 4, 2824745: 2824745
20 SH3BP2 NM_003023.4(SH3BP2): c.357+15G> T single nucleotide variant Benign rs62620003 GRCh37 Chromosome 4, 2826472: 2826472
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 GRCh37 Chromosome 4, 2820560: 2820560
28 SH3BP2 NM_003023.4(SH3BP2): c.-242G> T single nucleotide variant Likely benign rs548710607 GRCh38 Chromosome 4, 2818833: 2818833
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.*128T> C single nucleotide variant Uncertain significance rs886059359 GRCh38 Chromosome 4, 2833962: 2833962
36 SH3BP2 NM_003023.4(SH3BP2): c.497C> T (p.Pro166Leu) single nucleotide variant Likely benign rs567769591 GRCh38 Chromosome 4, 2827298: 2827298
37 SH3BP2 NM_003023.4(SH3BP2): c.497C> T (p.Pro166Leu) single nucleotide variant Likely benign rs567769591 GRCh37 Chromosome 4, 2829025: 2829025
38 SH3BP2 NM_003023.4(SH3BP2): c.528C> T (p.His176=) single nucleotide variant Uncertain significance rs138986397 GRCh38 Chromosome 4, 2827616: 2827616
39 SH3BP2 NM_003023.4(SH3BP2): c.528C> T (p.His176=) single nucleotide variant Uncertain significance rs138986397 GRCh37 Chromosome 4, 2829343: 2829343
40 SH3BP2 NM_003023.4(SH3BP2): c.1150C> T (p.Arg384Trp) single nucleotide variant Likely benign rs529543434 GRCh38 Chromosome 4, 2830056: 2830056
41 SH3BP2 NM_003023.4(SH3BP2): c.1150C> T (p.Arg384Trp) single nucleotide variant Likely benign rs529543434 GRCh37 Chromosome 4, 2831783: 2831783
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.*102G> T single nucleotide variant Likely benign rs183257237 GRCh38 Chromosome 4, 2833936: 2833936
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 GRCh37 Chromosome 4, 2835723: 2835723
46 SH3BP2 NM_003023.4(SH3BP2): c.*162G> A single nucleotide variant Likely benign rs61791176 GRCh38 Chromosome 4, 2833996: 2833996
47 SH3BP2 NM_003023.4(SH3BP2): c.*742C> A single nucleotide variant Likely benign rs535270976 GRCh37 Chromosome 4, 2836303: 2836303
48 SH3BP2 NM_003023.4(SH3BP2): c.*742C> A single nucleotide variant Likely benign rs535270976 GRCh38 Chromosome 4, 2834576: 2834576
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
Sources

Expression for Cherubism

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Search GEO for disease gene expression data for Cherubism.
Sources

Pathways for Cherubism

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Pathways related to Cherubism according to GeneCards Suite gene sharing:

(show all 27)
# Super pathways Score Top Affiliating Genes
1
Cytokine Signaling in Immune system 66
Show member pathways
 12.94 CSF1 FGFR3 PTPN11 SRC TNFSF11
2
PAK Pathway 64
Show member pathways
 12.72 CSF1 FGFR3 PTPN11 SRC TNFSF11
3
Negative regulation of FGFR3 signaling 66
Show member pathways
 12.32 FGFR3 PTPN11 SRC
4
S33 mutants of beta-catenin arent phosphorylated 66
Show member pathways
 12.29 PTPN11 SRC TNKS
5
Immune response Role of DAP12 receptors in NK cells 22
Show member pathways
 12.26 NFATC1 PTPN11 SH3BP2
6
Prolactin Signaling Pathway 1 37
Show member pathways
 12.2 PTPN11 SRC TNFSF11
7
Development FGFR signaling pathway 22
Show member pathways
 12.16 FGFR3 PTPN11 SRC
8
RANK Signaling in Osteoclasts 64
Show member pathways
 12.12 NFATC1 SRC TNFSF11
9
Development VEGF signaling via VEGFR2 - generic cascades 22
Show member pathways
 12.04 NFATC1 PTPN11 SRC
10
B cell receptor signaling pathway (KEGG) 37
Show member pathways
 12.01 NFATC1 PTPN11 SH3BP2
11
Ras signaling pathway 37
Show member pathways
 11.9 CSF1 FGFR3 PTPN11 SRC
12
Signaling by FGFR2 66
Show member pathways
 11.87 FGFR3 PTPN11 SRC
13
C-type lectin receptor signaling pathway 37
Show member pathways
 11.74 NFATC1 PTPN11 SRC
14
Osteoclast differentiation 37
11.44 CSF1 NFATC1 TNFSF11
15
PDGFR-beta signaling pathway 1
11.36 PTPN11 SRC
16
Signaling events mediated by PTP1B 1
11.32 CSF1 SRC
17
Differentiation Pathway 1
11.29 CSF1 TNFSF11
18
FGF signaling pathway 1
11.27 PTPN11 SRC
19
Thymic Stromal LymphoPoietin (TSLP) Signaling Pathway 1
11.26 PTPN11 SRC
20
Heart Development 1
11.25 NFATC1 PTPN11
21
Alzheimers Disease Pathway 64
11.21 FGFR3 SRC
22
Interleukin-11 Signaling Pathway 1
11.18 PTPN11 SRC
23
Signaling events mediated by TCPTP 1
Show member pathways
 11.15 CSF1 SRC
24
Cell adhesion_Cadherin-mediated cell adhesion 22
11.11 PTPN11 SRC
25
Signaling events regulated by Ret tyrosine kinase 1
11.07 PTPN11 SRC
26
EGF receptor (ErbB1) signaling pathway 1
10.77 PTPN11 SRC
27
Integrins in angiogenesis 1
10.46 CSF1 PTPN11 SRC
Sources

GO Terms for Cherubism

About this section

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 9.73 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 9.55 FGFR3 PTPN11
4 platelet-derived growth factor receptor signaling pathway GO:0048008 9.52 PTPN11 SRC
5 osteoclast differentiation GO:0030316 9.51 CSF1 TNFSF11
6 phosphatidylinositol phosphorylation GO:0046854 9.5 FGFR3 PTPN11 SRC
7 positive regulation of phosphatidylinositol 3-kinase activity GO:0043552 9.49 FGFR3 SRC
8 homeostasis of number of cells within a tissue GO:0048873 9.48 CSF1 PTPN11
9 bone resorption GO:0045453 9.46 SRC TNFSF11
10 positive regulation of osteoclast differentiation GO:0045672 9.43 CSF1 TNFSF11
11 neurotrophin TRK receptor signaling pathway GO:0048011 9.4 PTPN11 SRC
12 branching involved in mammary gland duct morphogenesis GO:0060444 9.37 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 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
Sources

Sources for Cherubism

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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