{"Name":"Pineoblastoma","DiseaseID__c":"GARD:0009369","id":9369,"encodedName":"pineoblastoma","IsDeleted":false,"Disease_Name_Full__c":"Pineoblastoma","Xref_IDs__c":"31671006; 767448007; C0205898; C9344; DOID:1664; HP:0030408; MEDGEN:104745; MONDO:0016722; ORPHA:251909","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0016722","Disease_Description__c":"Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis.","GARD_Name__c":"Pineoblastoma","GARD_Synonym__c":"pineal gland pnet; pineal gland primitive neuroectodermal neoplasm; pineal gland primitive neuroectodermal tumor; pineal gland primitive neuroectodermal tumour; pineal pnet; pineal primitive neuroectodermal neoplasm; pineal primitive neuroectodermal tumor; pineal primitive neuroectodermal tumour; pinealoblastoma; pineoblastoma (who grade iv); pineoblastoma, malignant; pnet of pineal gland; pnet of the pineal gland; primitive neuroectodermal neoplasm of pineal gland; primitive neuroectodermal neoplasm of the pineal gland; primitive neuroectodermal tumor of pineal gland; primitive neuroectodermal tumor of the pineal gland; primitive neuroectodermal tumour of pineal gland; primitive neuroectodermal tumour of the pineal gland","Curated_Disease_Description_Source__c":"GARD:0009369","Curated_Disease_Description__c":"Pineoblastoma is a type of cancerous (malignant) tumor that grows in a part of the brain known as the pineal gland. It occurs mainly in children. Symptoms of Pineoblastoma include a buildup of fluid around the brain (hydrocephalus), headaches, nausea, and difficulty with eye movement. The cause of Pineoblastoma is unknown, but specific inherited genetic variants in two genes, RB1 and DICER1 can increase the risk for a Pineoblastoma. Diagnosis is based on the symptoms, clinical exam, and imaging studies. In addition, a biopsy is often done to examine a small piece of tumor tissue under the microscope.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:251909","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016722","ORPHANET_ID__c":"ORPHA:251909","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Pineoblastoma","Spanish_Description_Source__c":"ORPHA:251909","Spanish_Description__c":"El pineoblastoma es un tumor neuroectodérmico primitivo supratentorial (PNETs) de tipo maligno, poco frecuente, hallado principalmente en niños (menos del 10% de los casos se presentaron en adultos) y localizado en la región pineal del cerebro aunque puede metastizar en el neuroeje. Es el tumor del parénquima pineal más agresivo y, en general, se asocia con un pronóstico desfavorable.","Spanish_Disease_Name__c":"pineoblastoma","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:250908","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":"Pineoblastoma is a type of cancerous (malignant) tumor that grows in a part of the brain known as the pineal gland. It occurs mainly in children. Symptoms of Pineoblastoma include a buildup of fluid around the brain (hydrocephalus), headaches, nausea, and difficulty with eye movement. The cause of Pineoblastoma is unknown, but specific inherited genetic variants in two genes, RB1 and DICER1 can increase the risk for a Pineoblastoma. Diagnosis is based on the symptoms, clinical exam, and imaging studies. In addition, a biopsy is often done to examine a small piece of tumor tissue under the microscope.","Curated_Disease_Description_Source__c":"GARD:0009369","GARD_Synonym__c":"pineal gland pnet; pineal gland primitive neuroectodermal neoplasm; pineal gland primitive neuroectodermal tumor; pineal gland primitive neuroectodermal tumour; pineal pnet; pineal primitive neuroectodermal neoplasm; pineal primitive neuroectodermal tumor; pineal primitive neuroectodermal tumour; pinealoblastoma; pineoblastoma (who grade iv); pineoblastoma, malignant; pnet of pineal gland; pnet of the pineal gland; primitive neuroectodermal neoplasm of pineal gland; primitive neuroectodermal neoplasm of the pineal gland; primitive neuroectodermal tumor of pineal gland; primitive neuroectodermal tumor of the pineal gland; primitive neuroectodermal tumour of pineal gland; primitive neuroectodermal tumour of the pineal gland","Name":"Pineoblastoma","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"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":"American Cancer Society","Website__c":"https://www.cancer.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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:251909"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:251909"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:251909"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:251909"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C9344","Source__c":"C0205898; MONDO:0016722","Xref__c":"C9344"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0205898","Source__c":"C0205898","Xref__c":"C0205898"},{"URL__c":"https://www.orpha.net/en/disease/detail/251909","Source__c":"C0205898; MONDO:0016722; ORPHA:251909","Xref__c":"ORPHA:251909"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=104745","Source__c":"C0205898","Xref__c":"MEDGEN:104745"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A1664","Source__c":"MONDO:0016722","Xref__c":"DOID:1664"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=767448007","Source__c":"C0205898","Xref__c":"767448007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016722","Source__c":"GARD:0009369","Xref__c":"MONDO:0016722"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=31671006","Source__c":"C0205898","Xref__c":"31671006"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0030408","Source__c":"C0205898","Xref__c":"HP:0030408"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:251909","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:251909","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"A neoplasm of the pineal gland.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010799","HPO_Name__c":"Pinealoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251909","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A transient visual disturbance that is typically caused by a circulatory, ocular or neurological underlying condition.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100576","HPO_Name__c":"Amaurosis fugax","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251909","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002516","HPO_Synonym__c":"Intracranial hypertension; Intracranial pressure elevation; Rise in pressure inside skull","HPO_Name__c":"Increased intracranial pressure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251909","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007987","HPO_Name__c":"Progressive visual field defects","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251909","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Peripheral neuropathy affecting the sensory nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000763","HPO_Synonym__c":"Damage to nerves that sense feeling; Peripheral sensory neuropathy","HPO_Name__c":"Sensory neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251909","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002344","HPO_Synonym__c":"Neurologic deterioration; Neurologic deterioration, progressive; Progressive mental deterioration; Progressive neurodegeneration; Worsening neurological symptoms","HPO_Name__c":"Progressive neurologic deterioration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251909","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced ability to turn the eyes inward in order to focus on a nearby object.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000619","HPO_Synonym__c":"Convergence insufficiency","HPO_Name__c":"Impaired convergence","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251909","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251909","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007663","HPO_Synonym__c":"Decreased central vision; Decreased clarity of vision; Decreased visual acuity; Poor visual acuity","HPO_Name__c":"Reduced visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251909","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001085","HPO_Name__c":"Papilledema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251909","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007045","HPO_Name__c":"Midline brain calcifications","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251909","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An impairment of memory as manifested by a reduced ability to remember things such as dates and names, and increased forgetfulness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002354","HPO_Synonym__c":"Amnesia; Forgetfulness; Memory impairment; Memory loss; Memory problems; Poor memory","HPO_Name__c":"Memory impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251909","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Paralysis of voluntary muscles means loss of contraction due to interruption of one or more motor pathways from the brain to the muscle fibers. Although the word paralysis is often used interchangeably to mean either complete or partial loss of muscle strength, it is preferable to use paralysis or plegia for complete or severe loss of muscle strength, and paresis for partial or slight loss. Motor paralysis results from deficits of the upper motor neurons (corticospinal, corticobulbar, or subcorticospinal). Motor paralysis is often accompanied by an impairment in the facility of movement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003470","HPO_Synonym__c":"Inability to move; Paralysis","HPO_Name__c":"Paralysis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251909","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A tumor of the eye originating from cells of the retina.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009919","HPO_Name__c":"Retinoblastoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251909","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001254","HPO_Synonym__c":"Dullness; Inaction; Inactivity; Languor; Lethargy; Slowness; Torpor","HPO_Name__c":"Lethargy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251909","HPO_Frequency__c":"Frequent (30-79%)","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:251909","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Abnormally diminished level of attention, responsiveness, or wakefulness.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004372","HPO_Synonym__c":"Disturbances of consciousness; Lowered consciousness; Reduced consciousness/confusion","HPO_Name__c":"Reduced consciousness","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251909","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Neurology","Pediatrics"],"Disease Category":["Cancer","Neurology"]},"synonyms":["pineal gland pnet"," pineal gland primitive neuroectodermal neoplasm"," pineal gland primitive neuroectodermal tumor"," pineal gland primitive neuroectodermal tumour"," pineal pnet"," pineal primitive neuroectodermal neoplasm"," pineal primitive neuroectodermal tumor"," pineal primitive neuroectodermal tumour"," pinealoblastoma"," pineoblastoma (who grade iv)"," pineoblastoma, malignant"," pnet of pineal gland"," pnet of the pineal gland"," primitive neuroectodermal neoplasm of pineal gland"," primitive neuroectodermal neoplasm of the pineal gland"," primitive neuroectodermal tumor of pineal gland"," primitive neuroectodermal tumor of the pineal gland"," primitive neuroectodermal tumour of pineal gland"," primitive neuroectodermal tumour of the pineal gland"]}