MCID: CHR003
MIFTS: 53

Cherubism malady

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

Aliases & Classifications for Cherubism

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 65UMLS, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Cherubism:

Name: Cherubism 49 10 11 21 45 22 23 47 12 51 67 36 65
Crbm 45 51 67
Familial Multilocular Cystic Disease of the Jaws 23
 
Familial Benign Giant-Cell Tumor of the Jaw 23
Familial Fibrous Dysplasia of Jaw 23

Characteristics:

Orphanet epidemiological data:

51
cherubism:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Childhood; Age of death: normal life expectancy

HPO:

61
cherubism:
Onset and clinical course: childhood onset
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 118400
Disease Ontology10 DOID:1856
ICD1027 M27.8
MeSH36 D002636
NCIt42 C84630
SNOMED-CT59 53432004, 76098004
Orphanet51 184
ICD10 via Orphanet28 K10.8
MESH via Orphanet37 D002636
UMLS via Orphanet66 C0008029
MedGen34 C0008029
UMLS65 C0008029

Summaries for Cherubism

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Genetics Home Reference:23 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 ramon syndrome and al gazali khidr prem chandran syndrome, and has symptoms including neoplasm of the skeletal system, abnormality of the mandible and reduced number of teeth. An important gene associated with Cherubism is SH3BP2 (SH3 Domain Binding Protein 2), and among its related pathways are Bladder cancer and Alzheimers Disease Pathway. Affiliated tissues include bone, breast and liver, and related mouse phenotypes are craniofacial and respiratory system.

NIH Rare Diseases:45 Cherubism is a rare disorder characterized by abnormal bone tissue in the lower part of the face. the enlarged bone is replaced with painless, cyst-like growths that give the cheeks a swollen, rounded appearance and frequently interfere with normal tooth development. the condition may be mild or severe. people with the severe form may have problems with vision, breathing, speech, and swallowing. many adults with cherubism have a normal facial appearance. most people with cherubism do not any other signs and symptoms. the condition is inherited in an autosomal dominant fashion and is caused by mutations in the sh3bp2 gene., in most cases. last updated: 8/17/2010

UniProtKB/Swiss-Prot:67 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:68 Cherubism is a rare genetic disorder that causes prominence in the lower portion in the face. The name... more...

Description from OMIM:49 118400

GeneReviews summary for NBK1137

Related Diseases for Cherubism

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Graphical network of the top 20 diseases related to Cherubism:



Diseases related to cherubism

Symptoms for Cherubism

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Symptoms by clinical synopsis from OMIM:

118400

Clinical features from OMIM:

118400

Symptoms:

 51 (show all 13)
  • high cheek bones
  • enlargment of jaw/large jaw
  • bone/osseous neoplasm/tumor/carcinoma/cancer
  • autosomal dominant inheritance
  • tooth shape anomaly
  • anodontia/oligodontia/hypodontia
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • proptosis/exophthalmos
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • visual loss/blindness/amblyopia
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • apnea/sleep apnea
  • abnormal cry/voice/phonation disorder/nasal speech

HPO human phenotypes related to Cherubism:

(show all 20)
id Description Frequency HPO Source Accession
1 neoplasm of the skeletal system hallmark (90%) HP:0010622
2 abnormality of the mandible hallmark (90%) HP:0000277
3 reduced number of teeth typical (50%) HP:0009804
4 abnormality of dental morphology typical (50%) HP:0006482
5 feeding difficulties in infancy occasional (7.5%) HP:0008872
6 apnea occasional (7.5%) HP:0002104
7 abnormality of the voice occasional (7.5%) HP:0001608
8 optic atrophy occasional (7.5%) HP:0000648
9 proptosis occasional (7.5%) HP:0000520
10 visual impairment occasional (7.5%) HP:0000505
11 marcus gunn pupil HP:0200057
12 macular scarring HP:0200056
13 reduced visual acuity HP:0007663
14 optic neuropathy HP:0001138
15 constriction of peripheral visual field HP:0001133
16 striae distensae HP:0001065
17 oligodontia HP:0000677
18 proptosis HP:0000520
19 visual impairment HP:0000505
20 round face HP:0000311

Drugs & Therapeutics for Cherubism

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Natural History of Cherubism Observational StudyRecruitingNCT01916772
2Genetic and Functional Analysis of CherubismRecruitingNCT01630447

Search NIH Clinical Center for Cherubism


Cochrane evidence based reviews: cherubism

Genetic Tests for Cherubism

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Genetic tests related to Cherubism:

id Genetic test Affiliating Genes
1 Cherubism22 SH3BP2

Anatomical Context for Cherubism

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MalaCards organs/tissues related to Cherubism:

33
Bone, Breast, Liver, T cells, Monocytes, Bone marrow, Skin

Animal Models for Cherubism or affiliated genes

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MGI Mouse Phenotypes related to Cherubism:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.8FGFR3, PTPN11, SH3BP2, SRC, TNFSF11
2MP:00053888.8FAT4, FGFR3, PTPN11, SH3BP2, SRC
3MP:00030128.6FAT4, FGFR3, PTPN11, TNFSF11, TNKS
4MP:00107718.5FGFR3, PTPN11, SH3BP2, SRC, TNFSF11, TNKS
5MP:00053718.4FAT4, FGFR3, PTPN11, SH3BP2, SRC, TNFSF11
6MP:00053908.0FAT4, FGFR3, PTPN11, SH3BP2, SRC, TNFSF11

Publications for Cherubism

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Articles related to Cherubism:

(show top 50)    (show all 242)
idTitleAuthorsYear
1
Comparisons of Clinical Outcomes and Prognoses in Patients With Gastroesophageal Junction Adenocarcinoma, by Transthoracic and Transabdominal Hiatal Approaches: A Teaching Hospital Retrospective Cohort Study. (26683954)
2015
2
Salivary mucoepidermoid carcinoma revisited. (24771140)
2015
3
Genetic polymorphisms in the methylenetetrahydrofolate reductase gene (MTHFR) and risk of vitiligo in Han Chinese populations: a genotype-phenotype correlation study. (24472005)
2014
4
Resolution of papilledema after endoscopic third ventriculostomy versus cerebrospinal fluid shunting in hydrocephalus: a comparative study. (24678778)
2014
5
Aids-related primary CNS non-Hodgkin's lymphoma in a patient with previous Epstein-Barr virus panuveitis. A clinico-pathological report. (25443210)
2014
6
Nuclear magnetic resonance therapy in lumbar disc herniation with lumbar radicular syndrome: effects of the intervention on pain intensity, health-related quality of life, disease-related disability, consumption of pain medication, duration of sick leave and MRI analysis. (25326180)
2014
7
Bone Marrow Metaplasia in Multinodular Goiter With Primary Hyperparathyroidism. (25310511)
2014
8
Exercise induced anaphylaxis. (23474935)
2013
9
Thyrotoxic hypokalemic periodic paralysis: two case reports and a brief review of literature. (24156178)
2013
10
Relationship between hypertension, diabetes and proteinuria in rural and urban households in Yemen. (23514843)
2013
11
MYC rearrangements are useful for predicting outcomes following rituximab and chemotherapy: multicenter analysis of Japanese patients with diffuse large B-cell lymphoma. (23363269)
2013
12
IDH mutation detection in formalin-fixed paraffin-embedded gliomas using multiplex PCR and single-base extension. (22360629)
2012
13
A lifetime in the sun? You can still cut your risk. Minimize the chance of melanoma, the most dangerous skin cancer, with smart sun protection habits and regular checks for worrisome moles. (22768402)
2012
14
Cardiac device infective endocarditis and patient survival. (22910744)
2012
15
Huge pseudo-aneurysm of right ventricular outflow tract after patch reconstruction in tetralogy of Fallot. (21977504)
2011
16
Identification of CXCL13 as a marker for rheumatoid arthritis outcome using an in silico model of the rheumatic joint. (21305530)
2011
17
Morphological changes in human skin melanoma treated by high-energy pulsed neodymium laser radiation. (21766508)
2011
18
Evaluation of body mass index and lipid fractions levels in patients with retinal artery occlusion]. (21524005)
2011
19
Comparison of Ponseti versus surgical treatment in congenital talipes equinovarus. (21680202)
2011
20
The effect of oral buspirone, pyridostigmine, and bethanechol on esophageal function evaluated with combined multichannel esophageal impedance-manometry in healthy volunteers. (18987553)
2009
21
TORC2, a coactivator of cAMP-response element-binding protein, promotes Epstein-Barr virus reactivation from latency through interaction with viral BZLF1 protein. (19164291)
2009
22
Current clinical practice of consultant ophthalmologists in treating herpetic eye disease in the United Kingdom. (18344961)
2009
23
Synchronized brain network associated with essential tremor as revealed by magnetoencephalography. (19514010)
2009
24
Disappearance of lentigines in a patient receiving imatinib treatment for familial gastrointestinal stromal tumor syndrome. (19917964)
2009
25
p190A RhoGAP is a glycogen synthase kinase-3-beta substrate required for polarized cell migration. (18502760)
2008
26
Staged excision versus Mohs micrographic surgery for lentigo maligna and lentigo maligna melanoma. (17870430)
2007
27
The effect of topical wheatgrass cream on chronic plantar fasciitis: a randomized, double-blind, placebo-controlled trial. (16473748)
2006
28
The effect of different antioxidants on nitric oxide production in hypertensive rats. (17177623)
2006
29
Epidemiology of cat-scratch disease hospitalizations among children in the United States. (16094224)
2005
30
Diffusion-weighted MRI of spinal cord infarction--high resolution imaging and time course of diffusion abnormality. (15258783)
2004
31
PDE4 inhibitors activate a mitochondrial apoptotic pathway in chronic lymphocytic leukemia cells that is regulated by protein phosphatase 2A. (12531792)
2003
32
I've recently had to stop writing in my journal because my right hand tightens and twists when I try to write. My doctor says it's a focal dystonia. Are there treatments? (14971354)
2003
33
Identification of S100A2 as a target of the DeltaNp63 oncogenic pathway. (14519656)
2003
34
Acute phase proteins, body temperature and urinary melatonin under the influence of bright and dim light intensities during the daytime. (11840685)
2001
35
Lid retractors desinsertion in acquired ptosis and involutional lower lid entropion: surgical implications. (11417323)
2001
36
Cholesterol binds to synaptophysin and is required for biogenesis of synaptic vesicles. (10620806)
2000
37
Paraoxonase and acetylcholinesterase activities in humans exposed to organophosphorous compounds. (10632139)
1999
38
Peroxisomal disease--common ground for pediatrician, cell biologist, biochemist, pathologist, and neurologist. (10047939)
1999
39
Treatment of multiple sclerosis with copolymer-1 (Copaxone): implicating mechanisms of Th1 to Th2/Th3 immune-deviation. (9916886)
1998
40
Lack association between schizophrenia and the CYP2D6 gene polymorphisms. (8723057)
1996
41
The interaction of fibulin-1 with fibrinogen. A potential role in hemostasis and thrombosis. (7642629)
1995
42
Seroquel (ICI 204 636), a putative "atypical" antipsychotic, in schizophrenia with positive symptomatology: results of an open clinical trial and changes of neuroendocrinological and EEG parameters. (7659771)
1995
43
Cross-linking of HLA class II antigens modulates the release of tumor necrosis factor-alpha by the EBV-B lymphoblastoid cell line JY. (8228213)
1993
44
Different ATP effects on natriuretic peptide receptor subtypes in LLC-PK1 and NIH-3T3 cells. (8102767)
1993
45
A testis-expressed Zn finger gene (ZNF76) in human 6p21.3 centromeric to the MHC is closely linked to the human homolog of the T-complex gene tcp-11. (1427894)
1992
46
Human carcinoembryonic antigen cDNA expressed in rat carcinoma cells can function as target antigen for tumor localization of antibodies in nude rats and as rejection antigen in syngeneic rats. (1500216)
1992
47
Primary structure of human alpha 2-macroglobulin. Complete disulfide bridge assignment and localization of two interchain bridges in the dimeric proteinase binding unit. (2430963)
1986
48
A new X-linked dysplasia gigantism syndrome: identical with the Simpson dysplasia syndrome? (6490008)
1984
49
Incidence of immediate and delayed hypersensitivity to Candida albicans in denture stomatitis. (4933599)
1971
50
Human immunoglobulin subclasses. Partial amino acid sequence of the constant region of a gamma 4 chain. (4192699)
1970

Variations for Cherubism

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UniProtKB/Swiss-Prot genetic disease variations for Cherubism:

67
id Symbol AA change Variation ID SNP ID
1SH3BP2p.Arg415ProVAR_013257
2SH3BP2p.Arg415GlnVAR_013258
3SH3BP2p.Pro418HisVAR_013259
4SH3BP2p.Pro418LeuVAR_013260
5SH3BP2p.Pro418ArgVAR_013261
6SH3BP2p.Gly420GluVAR_013262rs28938171
7SH3BP2p.Gly420ArgVAR_013263rs28938170

Clinvar genetic disease variations for Cherubism:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SH3BP2NM_001122681.1(SH3BP2): c.1253C> T (p.Pro418Leu)single nucleotide variantPathogenicrs121909146GRCh37Chr 4, 2833309: 2833309
2SH3BP2NM_001122681.1(SH3BP2): c.1253C> G (p.Pro418Arg)single nucleotide variantPathogenicrs121909146GRCh37Chr 4, 2833309: 2833309
3SH3BP2NM_001122681.1(SH3BP2): c.1253C> A (p.Pro418His)single nucleotide variantPathogenicrs121909146GRCh37Chr 4, 2833309: 2833309
4SH3BP2NM_001122681.1(SH3BP2): c.1244G> C (p.Arg415Pro)single nucleotide variantPathogenicrs121909149GRCh37Chr 4, 2833300: 2833300
5SH3BP2NM_001122681.1(SH3BP2): c.1244G> A (p.Arg415Gln)single nucleotide variantPathogenicrs121909149GRCh37Chr 4, 2833300: 2833300
6SH3BP2NM_001122681.1(SH3BP2): c.1258G> C (p.Gly420Arg)single nucleotide variantPathogenicrs28938170GRCh37Chr 4, 2833314: 2833314
7SH3BP2NM_001122681.1(SH3BP2): c.1259G> A (p.Gly420Glu)single nucleotide variantPathogenicrs28938171GRCh37Chr 4, 2833315: 2833315

Expression for genes affiliated with Cherubism

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Search GEO for disease gene expression data for Cherubism.

Pathways for genes affiliated with Cherubism

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Pathways related to Cherubism according to GeneCards Suite gene sharing:

(show all 18)
idSuper pathwaysScoreTop Affiliating Genes
19.8FGFR3, SRC
29.8FGFR3, SRC
39.6PTPN11, SRC
49.6PTPN11, SRC
59.6PTPN11, SRC
69.6PTPN11, SRC
79.6PTPN11, SRC
89.6PTPN11, SRC
99.6PTPN11, SRC
109.6PTPN11, SRC
119.6PTPN11, SRC
129.5PTPN11, TNFSF11
139.3SRC, STRN
14
Show member pathways
9.2FGFR3, PTPN11, SRC
15
Show member pathways
9.2FGFR3, PTPN11, SRC
16
Show member pathways
9.2PTPN11, SRC, TNFSF11
17
Show member pathways
9.1PTPN11, SRC, TNKS
18
Show member pathways
8.8FGFR3, PTPN11, SRC, TNKS

GO Terms for genes affiliated with Cherubism

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of MAP kinase activityGO:004340610.1SRC, TNFSF11
2regulation of phosphatidylinositol 3-kinase signalingGO:001406610.0FGFR3, PTPN11
3platelet-derived growth factor receptor signaling pathwayGO:00480089.9PTPN11, SRC
4phosphatidylinositol-3-phosphate biosynthetic processGO:00360929.9FGFR3, PTPN11
5integrin-mediated signaling pathwayGO:00072299.9PTPN11, SRC
6positive regulation of phosphatidylinositol 3-kinase activityGO:00435529.8FGFR3, SRC
7positive regulation of protein kinase B signalingGO:00518979.6SRC, TNFSF11
8T cell costimulationGO:00312959.6PTPN11, SRC
9epidermal growth factor receptor signaling pathwayGO:00071739.4FGFR3, PTPN11, SRC
10fibroblast growth factor receptor signaling pathwayGO:00085439.3FGFR3, PTPN11, SRC

Sources for Cherubism

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet