{"Name":"Pineocytoma","DiseaseID__c":"GARD:0008207","id":8207,"encodedName":"pineocytoma","IsDeleted":false,"Disease_Name_Full__c":"Pineocytoma","Xref_IDs__c":"1156473003; 255045009; 89096009; C0917890; C6966; DOID:0081248; HP:0030407; MEDGEN:183004; MONDO:0016723; ORPHA:251912","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"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":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016723","Disease_Description__c":"Pineocytoma is the least aggressive form of pineal parenchymal tumors, manifesting with symptoms such as Parinaud's syndrome (a group of eye movement abnormalities and pupil dysfunction, including deficiency in upward-gaze and convergence-retraction nystagmus), headaches, balance impairment, urinary incontinence, and changes in mood and that are not known to disseminate in a diffuse manner. They are usually associated with a good prognosis.","GARD_Name__c":"Pineocytoma","GARD_Synonym__c":"benign pinealoma; pinealocytoma; pineocytoma (disease); pineocytoma (who grade i); pineocytoma, benign","Curated_Disease_Description_Source__c":"GARD:0008207","Curated_Disease_Description__c":"A Pineocytoma is a tumor of the pineal gland, a small organ in the brain that makes melatonin (a sleep-regulating hormone). Signs and symptoms of Pineocytomas include headaches, nausea, hydrocephalus, vision abnormalities, and Parinaud syndrome. Pineocytomas are usually slow-growing and rarely spread to other parts of the body.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:251912","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016723","ORPHANET_ID__c":"ORPHA:251912","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Pineocitoma","Spanish_Description_Source__c":"ORPHA:251912","Spanish_Description__c":"El pineocitoma es la forma menos agresiva de los tumores del parénquima pineal. Se manifiesta con síntomas como el síndrome de Parinaud (un grupo de anomalías en el movimiento ocular y disfunción de la pupila, incluyendo anomalías del movimiento ocular hacia arriba y nistagmo de convergencia-retracción), dolores de cabeza, deterioro del equilibrio, incontinencia urinaria y cambios de humor. No parece diseminarse de manera difusa y suele estar asociado con un pronóstico favorable.","Spanish_Disease_Name__c":"pineocitoma","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":"A Pineocytoma is a tumor of the pineal gland, a small organ in the brain that makes melatonin (a sleep-regulating hormone). Signs and symptoms of Pineocytomas include headaches, nausea, hydrocephalus, vision abnormalities, and Parinaud syndrome. Pineocytomas are usually slow-growing and rarely spread to other parts of the body.","Curated_Disease_Description_Source__c":"GARD:0008207","GARD_Synonym__c":"benign pinealoma; pinealocytoma; pineocytoma (disease); pineocytoma (who grade i); pineocytoma, benign","Name":"Pineocytoma","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Brain Tumor Association","Website__c":"https://www.abta.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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:251912"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:251912"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=183004","Source__c":"C0917890","Xref__c":"MEDGEN:183004"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0081248","Source__c":"MONDO:0016723","Xref__c":"DOID:0081248"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0917890","Source__c":"C0917890","Xref__c":"C0917890"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=255045009","Source__c":"MONDO:0016723","Xref__c":"255045009"},{"URL__c":"https://www.orpha.net/en/disease/detail/251912","Source__c":"C0917890; MONDO:0016723; ORPHA:251912","Xref__c":"ORPHA:251912"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C6966","Source__c":"C0917890; MONDO:0016723","Xref__c":"C6966"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1156473003","Source__c":"C0917890","Xref__c":"1156473003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016723","Source__c":"GARD:0008207","Xref__c":"MONDO:0016723"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=89096009","Source__c":"C0917890","Xref__c":"89096009"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0030407","Source__c":"C0917890","Xref__c":"HP:0030407"}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:251912","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Nausea is a commonly encountered symptom that has been defined as an unpleasant painless subjective feeling that one will imminently vomit. Vomiting has been defined as the forceful expulsion of the contents of the stomach, duodenum, or jejunum through the oral cavity. While nausea and vomiting are often thought to exist on a temporal continuum, this is not always the case. There are situations when severe nausea may be present without emesis and less frequently, when emesis may be present without preceding nausea.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002017","HPO_Synonym__c":"Nausea and vomiting","HPO_Name__c":"Nausea and vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251912","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased concentration of protein in the cerebrospinal fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002922","HPO_Synonym__c":"Cerebrospinal fluid protein increased; Cerebrospinal fluid with increased protein; Elevated cerebrospinal fluid protein; Elevated csf protein; Hyperproteinorrhachia; Increased CSF protein; Increased protein in csf; Spinal fluid protein elevated","HPO_Name__c":"Increased CSF protein concentration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:251912","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030531","HPO_Name__c":"Altitudinal visual field defect","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251912","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:251912","HPO_Frequency__c":"Very frequent (80-99%)","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:251912","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251912","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000364","HPO_Synonym__c":"Abnormal hearing; Hearing abnormality","HPO_Name__c":"Hearing abnormality","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251912","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:251912","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Periodic spells of incoordination and imbalance, that is, episodes of ataxia typically lasting from 10 minutes to several hours or days.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002131","HPO_Synonym__c":"Intermittent cerebellar ataxia; Paroxysmal ataxia","HPO_Name__c":"Episodic ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251912","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000492","HPO_Synonym__c":"Abnormality of the eyelid; Abnormality of the eyelids","HPO_Name__c":"Abnormal eyelid morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251912","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:251912","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:251912","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Specialist":["Cancer - Oncologist","Neurology"],"Disease Category":["Cancer","Neurology"]},"synonyms":["benign pinealoma"," pinealocytoma"," pineocytoma (disease)"," pineocytoma (who grade i)"," pineocytoma, benign"]}