eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| choroid plexus papilloma | ||||
| Disease ID | 1013 |
|---|---|
| Disease | choroid plexus papilloma |
| Definition | A usually benign neoplasm that arises from the cuboidal epithelium of the choroid plexus and takes the form of an enlarged CHOROID PLEXUS, which may be associated with oversecretion of CSF. The tumor usually presents in the first decade of life with signs of increased intracranial pressure including HEADACHES; ATAXIA; DIPLOPIA; and alterations of mental status. In children it is most common in the lateral ventricles and in adults it tends to arise in the fourth ventricle. Malignant transformation to choroid plexus carcinomas may rarely occur. (Adams et al., Principles of Neurology, 6th ed, p667; DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2072) |
| Synonym | [m]choroid plexus papilloma nos [m]choroid plexus papilloma nos (morphologic abnormality) brain tumor, choroid plexus papilloma choroid plexus papilloma (morphologic abnormality) choroid plexus papilloma, no icd-o subtype choroid plexus papilloma, no icd-o subtype (morphologic abnormality) choroid plexus papilloma, no international classification of diseases for oncology subtype choroid plexus papilloma, no international classification of diseases for oncology subtype (morphologic abnormality) choroid plexus papilloma, nos choroid plexus papillomas choroid plexus, papilloma intracranial neoplasm, choroid plexus papilloma papilloma of choroid plexus papilloma of the choroid plexus papilloma, choroid plexus papilloma, choroid plexus [disease/finding] papilloma, choroid plexus, benign papillomas, choroid plexus |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0205770 |
| MeSH | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences: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:29) 55 | ACPP | 2.089 | DISEASES 55966 | AJAP1 | 2.956 | DISEASES 9774 | BCLAF1 | 2.737 | DISEASES 825 | CAPN3 | 1.709 | DISEASES 6364 | CCL20 | 1.097 | DISEASES 1612 | DAPK1 | 1.374 | DISEASES 2153 | F5 | 1.648 | DISEASES 2192 | FBLN1 | 2.18 | DISEASES 2272 | FHIT | 1.071 | DISEASES 22862 | FNDC3A | 2.473 | DISEASES 124975 | GGT6 | 4.135 | DISEASES 2878 | GPX3 | 1.617 | DISEASES 3481 | IGF2 | 1.742 | DISEASES 3572 | IL6ST | 2.203 | DISEASES 3875 | KRT18 | 1.783 | DISEASES 3855 | KRT7 | 1.89 | DISEASES 10514 | MYBBP1A | 3.394 | DISEASES 10763 | NES | 1.692 | DISEASES 5357 | PLS1 | 3.485 | DISEASES 5915 | RARB | 1.484 | DISEASES 11186 | RASSF1 | 1.009 | DISEASES 6207 | RPS13 | 2.148 | DISEASES 6295 | SAG | 1.224 | DISEASES 9962 | SLC23A2 | 2.675 | DISEASES 342527 | SMTNL2 | 4.439 | DISEASES 6663 | SOX10 | 1.37 | DISEASES 124976 | SPNS2 | 3.28 | DISEASES 8794 | TNFRSF10C | 1.872 | DISEASES 80036 | TRPM3 | 2.42 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1013 |
|---|---|
| Disease | choroid plexus papilloma |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:7) HP:0001250 | Seizures HP:0001085 | Papilledema HP:0200022 | Choroid plexus papilloma HP:0002018 | Nausea HP:0002315 | Headaches HP:0000238 | Nonsyndromal hydrocephalus HP:0002013 | Emesis |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0002664 | Neoplasia | 2 HP:0000995 | Beauty mark | 1 HP:0003764 | Naevus | 1 HP:0010819 | drop attacks | 1 HP:0002888 | Ependymoma | 1 HP:0001618 | Dysphonia | 1 |
| Disease ID | 1013 |
|---|---|
| Disease | choroid plexus papilloma |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:5) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0200022 | Choroid plexus papilloma | MP:0002051 | increased skin papilloma incidence | greater than the expected number of a circumscribed, benign epithelial tumor projecting from the surrounding surface, occurring in a specific population in a given time period |
Mapped by homologous gene(Total Items:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002018 | Nausea | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0002315 | Headache | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002013 | Vomiting | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001250 | Seizures | 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:0200022 | Choroid plexus papilloma | MP:0013502 | decreased fibroblast apoptosis | reduction in the timing or the number of fibroblast cells undergoing programmed cell death |
| HP:0000238 | Hydrocephalus | MP:0020080 | increased bone mineralization | increase in the rate at which minerals are deposited into bone |
| HP:0001085 | Papilledema | MP:0013640 | increased bone stiffness | increase in material stiffness (N/mm) during elastic deformation |
| Disease ID | 1013 |
|---|---|
| Disease | choroid plexus papilloma |
| Case | (Waiting for update.) |