eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| cherubism | ||||
| Disease ID | 207 |
|---|---|
| Disease | cherubism |
| Definition | A fibro-osseous hereditary disease of the jaws. The swollen jaws and raised eyes give a cherubic appearance; multiple radiolucencies are evident upon radiographic examination. |
| Synonym | cherubism (disorder) cherubism [disease/finding] crbm dysplasia familial fibrous jaw familial benign giant-cell tumor of the jaw familial fibrous dysplasia of jaw familial fibrous dysplasia of the jaws familial multilocular cystic disease of the jaws fibrous dysplasia of jaw fibrous dysplasia of jaw (disorder) fibrous dysplasia of jaws |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0008029 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:9) C0028326 | noonan syndrome | 2 C0035851 | root resorption | 1 C0085113 | neurofibromatosis | 1 C0259779 | fibrous dysplasia | 1 C0010278 | craniosynostosis | 1 C0032460 | polycystic ovary | 1 C0014544 | epilepsy | 1 C0025362 | mental retardation | 1 C0032460 | polycystic ovary syndrome | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:33) 25 | ABL1 | 1.976 | DISEASES 546 | ATRX | 1.082 | DISEASES 29086 | BABAM1 | 2.901 | DISEASES 796 | CALCA | 2.45 | DISEASES 799 | CALCR | 1.452 | DISEASES 1435 | CSF1 | 2.689 | DISEASES 2017 | CTTN | 1.343 | DISEASES 79633 | FAT4 | 2.479 | DISEASES 2261 | FGFR3 | 2.109 | DISEASES 342184 | FMN1 | 1.858 | DISEASES 2778 | GNAS | 1.67 | DISEASES 10020 | GNE | 1.685 | DISEASES 5599 | MAPK8 | 1.237 | DISEASES 4487 | MSX1 | 2.522 | DISEASES 4772 | NFATC1 | 4.555 | DISEASES 5828 | PEX2 | 2.595 | DISEASES 5236 | PGM1 | 1.602 | DISEASES 5336 | PLCG2 | 3.612 | DISEASES 57580 | PREX1 | 2.598 | DISEASES 9050 | PSTPIP2 | 3.059 | DISEASES 5745 | PTH1R | 1.326 | DISEASES 5744 | PTHLH | 1.301 | DISEASES 5781 | PTPN11 | 3.042 | DISEASES 81847 | RNF146 | 3.193 | DISEASES 6223 | RPS19 | 1.476 | DISEASES 6452 | SH3BP2 | 8.133 | DISEASES 9467 | SH3BP5 | 3.961 | DISEASES 6654 | SOS1 | 2.272 | DISEASES 6714 | SRC | 3.367 | DISEASES 6850 | SYK | 3.937 | DISEASES 7124 | TNF | 1.993 | DISEASES 80351 | TNKS2 | 3.312 | DISEASES 7409 | VAV1 | 4.39 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) SH3BP2 | 4p16.3 |
| Disease ID | 207 |
|---|---|
| Disease | cherubism |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:15) HP:0012062 | Bone cyst HP:0000520 | Proptosis HP:0000505 | Visual impairment HP:0012802 | Broad jaw HP:0000293 | Full cheeks HP:0000277 | Abnormality of the mandible HP:0001608 | Abnormality of the voice HP:0006482 | Abnormality of dental morphology HP:0000164 | Abnormality of the teeth HP:0002781 | Upper airway obstruction HP:0000648 | Optic atrophy HP:0000529 | Progressive visual loss HP:0000677 | Oligodontia HP:0002870 | Obstructive sleep apnea HP:0008872 | Feeding difficulties in infancy |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) |
| Disease ID | 207 |
|---|---|
| Disease | cherubism |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:7) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121909146 | NA | 6452 | SH3BP2 | umls:C0008029 | CLINVAR | NA | 0.570596165 | NA | SH3BP2 | 4 | 2831582 | C | A,G,T |
| rs121909149 | 24608212 | 6452 | SH3BP2 | umls:C0008029 | BeFree | 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. | 0.570596165 | 2013 | SH3BP2 | 4 | 2831573 | G | A,C |
| rs121909149 | NA | 6452 | SH3BP2 | umls:C0008029 | CLINVAR | NA | 0.570596165 | NA | SH3BP2 | 4 | 2831573 | G | A,C |
| rs28938170 | NA | 6452 | SH3BP2 | umls:C0008029 | CLINVAR | NA | 0.570596165 | NA | SH3BP2 | 4 | 2831587 | G | A,C |
| rs28938170 | 12900899 | 6452 | SH3BP2 | umls:C0008029 | UNIPROT | Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism. | 0.570596165 | 2003 | SH3BP2 | 4 | 2831587 | G | A,C |
| rs28938171 | 11381256 | 6452 | SH3BP2 | umls:C0008029 | UNIPROT | Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. | 0.570596165 | 2001 | SH3BP2 | 4 | 2831588 | G | A |
| rs28938171 | NA | 6452 | SH3BP2 | umls:C0008029 | CLINVAR | NA | 0.570596165 | NA | SH3BP2 | 4 | 2831588 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:8) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000529 | Progressive visual loss | MP:0010749 | absent visual evoked potential | absence of a characteristic electroencephalographic pattern recorded from the occipital area generated in response to retinal stimulation such as flashing lights or inverting a contrasting image; absence may indicate blindness |
| HP:0008872 | Feeding difficulties in infancy | MP:0011075 | abnormal macrophage activation involved in immune response | anomaly in the process in which a change in response and behavior of a macrophage results from exposure to a cytokine, chemokine, cellular ligand, or soluble factor, leading to the initiation or perpetuation of an immune response |
| HP:0012062 | Bone cyst | MP:0003414 | epidermal cyst | a benign mass derived from the epidermis or the epithelium of a hair follicle, formed by enclosure of epithelium within the dermis and filled with keratin and lipid-rich inclusions |
| HP:0001608 | Abnormality of the voice | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0000277 | Abnormality of the mandible | MP:0008156 | decreased diameter of tibia | reduced width of the cross-sectional distance that extends from one lateral edge of the tibia, through its center and to the opposite lateral edge |
| HP:0000648 | Optic atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0000164 | Abnormality of the teeth | MP:0010382 | abnormal dosage compensation, by inactivation of X chromosome | anomaly in the process of compensating for the two-fold variation in X-chromosome:autosome ratios between sexes by a global inactivation of all, or most of, the genes on one of the X-chromosomes in the XX sex |
| HP:0006482 | Abnormality of dental morphology | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
Mapped by homologous gene(Total Items:15) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0012062 | Bone cyst | MP:0014179 | abnormal blood-retinal barrier function | anomaly in the function of the part of the blood-ocular barrier that consists of cells that are joined tightly together to prevent certain substances from entering the tissue of the retina; the BRB consists of non-fenestrated capillaries of the retinal ci |
| HP:0000520 | Proptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000164 | Abnormality of the teeth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001608 | Abnormality of the voice | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0002870 | Obstructive sleep apnea | MP:0012431 | increased lymphoma incidence | greater than the expected number of neoplasms characterized by a proliferation of malignant lymphocytes in lymphoid tissue in a specific population in a given time period |
| HP:0000529 | Progressive visual loss | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0000677 | Oligodontia | MP:0014166 | ectopic cranial bone | the appearance of an extra bone structure at an atypical location in or near the cranium |
| HP:0000505 | Visual impairment | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0000293 | Full cheeks | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0000277 | Abnormality of the mandible | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0012802 | Broad jaw | MP:0006241 | abnormal placement of pupils | abnormal location of the pupil so that it is not in the center of the iris |
| HP:0002781 | Upper airway obstruction | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000648 | Optic atrophy | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0006482 | Abnormality of dental morphology | MP:0014176 | abnormal cilary zonule morphology | any structural anomaly of the circumferential suspensory ligaments that anchor the lens to the ciliary process and are made of bundles of fibrillin microfibrils, an elaborate system of fibers that spans the gap between the lens and the adjacent nonpigment |
| HP:0008872 | Feeding difficulties in infancy | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| Disease ID | 207 |
|---|---|
| Disease | cherubism |
| Case | (Waiting for update.) |