{"Name":"Choroid plexus papilloma","DiseaseID__c":"GARD:0004214","id":4214,"encodedName":"choroid-plexus-papilloma","IsDeleted":false,"Disease_Name_Full__c":"Choroid plexus papilloma","Xref_IDs__c":"425868004; C0205770; C3698; D020288; DOID:2626; HP:0200022; MEDGEN:64439; MONDO:0009837; OMIM:260500; ORPHA:2807","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009837","Disease_Description__c":"A rare benign type of choroid plexus tumor often occurring in the fourth ventricle (in adults) and the lateral ventricle (in children) but sometimes arising ectopically in the brain parenchyma, and presenting with nausea, vomiting, papilledema, abnormal eye movements, as well as enlarged head circumference, seizures and gait impairment due to an increase in intracranial pressure.","GARD_Name__c":"Choroid plexus papilloma","GARD_Synonym__c":"benign choroid plexus papilloma; choroid plexus papilloma, no icd-o subtype; cpp; papilloma of choroid plexus; papilloma of the choroid plexus","Curated_Disease_Description_Source__c":"GARD:0004214","Curated_Disease_Description__c":"Choroid plexus papilloma (CPP) ia a non-cancerous (benign) tumor of the choroid plexus, a network of blood vessels in the brain which surrounds the ventricles and produces the fluid surrounding the brain and spinal cord (cerebrospinal fluid, or CSF). CPPs most commonly occur in children but may occur in adults. Symptoms are generally due to increased secretion of CSF by tumor cells, causing hydrocephalus and subsequent intracranial pressure. Affected individuals may experience headaches, nausea and vomiting, drowsiness, ocular or gaze palsies, optic nerve swelling (papilledema), visual disturbances, and possible blindness. Infants, especially those with a tumor in the third ventricle, can present with hydrocephalus or macrocephaly. Some cases of CPP may result from a genetic change in the TP53 gene.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:2807","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009837","ORPHANET_ID__c":"ORPHA:2807","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Papiloma del plexo coroideo","Spanish_Description_Source__c":"ORPHA:2807","Spanish_Description__c":"Es una forma benigna y poco frecuente de tumor del plexo coroideo que suele afectar al cuarto ventrículo (adultos) y al ventrículo lateral (niños), aunque en ocasiones se origina ectópicamente en el parénquima cerebral. Se presenta con náuseas, vómitos, papiledema y movimientos oculares anómalos, así como con aumento del perimetro cefálico, crisis epilépticas y afectación de la marcha debido a un incremento de la presión intracraneal.","Spanish_Disease_Name__c":"papiloma del plexo coroideo","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Choroid plexus papilloma (CPP) ia a non-cancerous (benign) tumor of the choroid plexus, a network of blood vessels in the brain which surrounds the ventricles and produces the fluid surrounding the brain and spinal cord (cerebrospinal fluid, or CSF). CPPs most commonly occur in children but may occur in adults. Symptoms are generally due to increased secretion of CSF by tumor cells, causing hydrocephalus and subsequent intracranial pressure. Affected individuals may experience headaches, nausea and vomiting, drowsiness, ocular or gaze palsies, optic nerve swelling (papilledema), visual disturbances, and possible blindness. Infants, especially those with a tumor in the third ventricle, can present with hydrocephalus or macrocephaly. Some cases of CPP may result from a genetic change in the TP53 gene.","Curated_Disease_Description_Source__c":"GARD:0004214","GARD_Synonym__c":"benign choroid plexus papilloma; choroid plexus papilloma, no icd-o subtype; cpp; papilloma of choroid plexus; papilloma of the choroid plexus","Name":"Choroid plexus papilloma","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alex's Lemonade Stand Foundation","Website__c":"https://www.alexslemonade.org/"},{"Account_Name__c":"Pediatric Brain Tumor Foundation","Website__c":"https://www.curethekids.org/"},{"Account_Name__c":"American Brain Tumor Association","Website__c":"https://www.abta.org/"},{"Account_Name__c":"Children's Brain Tumor Foundation","Website__c":"https://cbtf.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Cancer - Oncologist","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cancer","Tag_Category__c":"Disease Category","category_description":"Cancer is a disease in which some of the body's cells grow uncontrollably and can spread to other parts of the body.","curated_tag_name":"Cancer"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Vascular Neurology","Tag_Category__c":"Specialist","curated_tag_name":"Vascular neurology"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:2807"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0205770"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004214","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0205770","Source__c":"C0205770","Xref__c":"C0205770"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=425868004","Source__c":"MONDO:0009837","Xref__c":"425868004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=64439","Source__c":"C0205770","Xref__c":"MEDGEN:64439"},{"URL__c":"https://www.orpha.net/en/disease/detail/2807","Source__c":"C0205770; MONDO:0009837; ORPHA:2807","Xref__c":"ORPHA:2807"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C3698","Source__c":"C0205770; MONDO:0009837","Xref__c":"C3698"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C020288","Source__c":"C0205770; MONDO:0009837","Xref__c":"D020288"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2626","Source__c":"MONDO:0009837","Xref__c":"DOID:2626"},{"URL__c":"https://www.omim.org/entry/260500","Source__c":"C0205770; MONDO:0009837; ORPHA:2807","Xref__c":"OMIM:260500"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1156641000","Source__c":"C0205770","Xref__c":"1156641000"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0200022","Source__c":"C0205770","Xref__c":"HP:0200022"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009837","Source__c":"GARD:0004214","Xref__c":"MONDO:0009837"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TP53","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tp53","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2807","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001276","HPO_Synonym__c":"Hypertonicity; Increased muscle tone","HPO_Name__c":"Hypertonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2807","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Choroid plexus papilloma is a histologically benign neoplasm located in the ventricular system of the choroid plexus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200022","HPO_Name__c":"Choroid plexus papilloma","Feature_System__c":"Nervous System; Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2807","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000238","HPO_Synonym__c":"Hydrocephaly; Nonsyndromal hydrocephalus; Too much cerebrospinal fluid in the brain","HPO_Name__c":"Hydrocephalus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2807","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An organ or organ-system abnormality that consists of uncontrolled autonomous cell-proliferation which can occur in any part of the body as a benign or malignant neoplasm (tumor).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002664","HPO_Synonym__c":"Neoplasia; Oncological abnormality; Tumor; Tumour","HPO_Name__c":"Neoplasm","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2807","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A structural anomaly of the nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012639","HPO_Synonym__c":"Abnormal shape of nervous system; Abnormality of nervous system morphology","HPO_Name__c":"Abnormal nervous system morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2807","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2807","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004374","HPO_Synonym__c":"Paralysis or weakness of one side of body","HPO_Name__c":"Hemiplegia/hemiparesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2807","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2807","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Neurology","Vascular Neurology","Vascular Medicine","Pediatrics"],"Disease Category":["Cancer","Neurology"]},"synonyms":["benign choroid plexus papilloma"," choroid plexus papilloma, no icd-o subtype"," cpp"," papilloma of choroid plexus"," papilloma of the choroid plexus"]}