{"Name":"Atypical teratoid rhabdoid tumor","DiseaseID__c":"GARD:0016926","id":16926,"encodedName":"atypical-teratoid-rhabdoid-tumor","IsDeleted":false,"Disease_Name_Full__c":"Atypical teratoid rhabdoid tumor","Xref_IDs__c":"423022111; C1266184; C6906; DOID:2129; MEDGEN:226853; MONDO:0020560; ORPHA:99966","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":4,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0020560","Disease_Description__c":"A rare, highly malignant central nervous system (CNS) rhabdoid tumor (RT) found almost exclusively in children.","GARD_Name__c":"Atypical teratoid rhabdoid tumor","GARD_Synonym__c":"at/rt; atrt; att/rht; atypical teratoid/rhabdoid tumor; atypical teratoid/rhabdoid tumor (morphologic abnormality); atypical teratoid/rhabdoid tumor (who grade iv); atypical teratoid/rhabdoid tumour; atypical teratoid/rhabdoid tumour (morphologic abnormality); atypical teratoid/rhabdoid tumour (who grade iv); central nervous system rhabdoid neoplasm; central nervous system rhabdoid tumor; central nervous system rhabdoid tumour; cns rhabdoid neoplasm; cns rhabdoid tumor; cns rhabdoid tumour; malignant brain rhabdoid neoplasm; malignant brain rhabdoid tumor; malignant brain rhabdoid tumour; malignant rhabdoid neoplasm of brain; malignant rhabdoid neoplasm of the brain; malignant rhabdoid tumor of brain; malignant rhabdoid tumor of the brain; malignant rhabdoid tumour of brain; malignant rhabdoid tumour of the brain; primary malignant brain rhabdoid neoplasm; primary malignant brain rhabdoid tumor; primary malignant brain rhabdoid tumour; primary malignant rhabdoid neoplasm of brain; primary malignant rhabdoid neoplasm of the brain; primary malignant rhabdoid tumor of brain; primary malignant rhabdoid tumor of the brain; primary malignant rhabdoid tumour of brain; primary malignant rhabdoid tumour of the brain; rhabdoid neoplasm of central nervous system; rhabdoid neoplasm of cns; rhabdoid neoplasm of the central nervous system; rhabdoid neoplasm of the cns; rhabdoid tumor of central nervous system; rhabdoid tumor of cns; rhabdoid tumor of the central nervous system; rhabdoid tumor of the cns; rhabdoid tumour of central nervous system; rhabdoid tumour of cns; rhabdoid tumour of the central nervous system; rhabdoid tumour of the cns","Curated_Disease_Description_Source__c":"MONDO:0020560","Curated_Disease_Description__c":"An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. Mutations of the SMARCB1 gene or very rarely SMARCA4 (BRG1) gene are present. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:99966","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0020560","ORPHANET_ID__c":"ORPHA:99966","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Tumor teratoideo rabdoide atípico","Spanish_Description_Source__c":"ORPHA:99966","Spanish_Description__c":"Es un tumor rabdoide (TR) muy maligno del sistema nervioso central (SNC) descrito casi exclusivamente en niños.","Spanish_Disease_Name__c":"tumor teratoideo rabdoide atípico","Spanish_GARD_Synonym__c":"atrt","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":"An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. Mutations of the SMARCB1 gene or very rarely SMARCA4 (BRG1) gene are present. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia.","Curated_Disease_Description_Source__c":"MONDO:0020560","GARD_Synonym__c":"at/rt; atrt; att/rht; atypical teratoid/rhabdoid tumor; atypical teratoid/rhabdoid tumor (morphologic abnormality); atypical teratoid/rhabdoid tumor (who grade iv); atypical teratoid/rhabdoid tumour; atypical teratoid/rhabdoid tumour (morphologic abnormality); atypical teratoid/rhabdoid tumour (who grade iv); central nervous system rhabdoid neoplasm; central nervous system rhabdoid tumor; central nervous system rhabdoid tumour; cns rhabdoid neoplasm; cns rhabdoid tumor; cns rhabdoid tumour; malignant brain rhabdoid neoplasm; malignant brain rhabdoid tumor; malignant brain rhabdoid tumour; malignant rhabdoid neoplasm of brain; malignant rhabdoid neoplasm of the brain; malignant rhabdoid tumor of brain; malignant rhabdoid tumor of the brain; malignant rhabdoid tumour of brain; malignant rhabdoid tumour of the brain; primary malignant brain rhabdoid neoplasm; primary malignant brain rhabdoid tumor; primary malignant brain rhabdoid tumour; primary malignant rhabdoid neoplasm of brain; primary malignant rhabdoid neoplasm of the brain; primary malignant rhabdoid tumor of brain; primary malignant rhabdoid tumor of the brain; primary malignant rhabdoid tumour of brain; primary malignant rhabdoid tumour of the brain; rhabdoid neoplasm of central nervous system; rhabdoid neoplasm of cns; rhabdoid neoplasm of the central nervous system; rhabdoid neoplasm of the cns; rhabdoid tumor of central nervous system; rhabdoid tumor of cns; rhabdoid tumor of the central nervous system; rhabdoid tumor of the cns; rhabdoid tumour of central nervous system; rhabdoid tumour of cns; rhabdoid tumour of the central nervous system; rhabdoid tumour of the cns","Name":"Atypical teratoid rhabdoid tumor","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"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":"Antenatal","Provided_By__c":"ORPHA:99966"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:99966"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:99966"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:99966"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK469816","Source__c":"Gene Review","Xref__c":"NBK469816"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C6906","Source__c":"C1266184; MONDO:0020560","Xref__c":"C6906"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=226853","Source__c":"C1266184","Xref__c":"MEDGEN:226853"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A2129","Source__c":"MONDO:0020560","Xref__c":"DOID:2129"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1266184","Source__c":"C1266184","Xref__c":"C1266184"},{"URL__c":"https://www.orpha.net/en/disease/detail/99966","Source__c":"C1266184; MONDO:0020560; ORPHA:99966","Xref__c":"ORPHA:99966"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0034401","Source__c":"C1266184","Xref__c":"HP:0034401"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020560","Source__c":"GARD:0016926","Xref__c":"MONDO:0020560"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=128792003","Source__c":"C1266184","Xref__c":"128792003"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022111","Xref__c":"423022111"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SMARCB1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/smarcb1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:99966","HPO_Frequency__c":"Frequent (30-79%)","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:99966","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99966","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100021","HPO_Synonym__c":"Cerebral paralysis; CP","HPO_Name__c":"Cerebral palsy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99966","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Apathy is a quantitative reduction of interest, motivation and the initiation and persistence of goal-directed behavior, where often the accompanying emotions, thoughts, and social interactions are also diminished. The individual is typically non-reactive to provocations, positive or negative, and appears to not care. Distinguished from lethargy which involves lack of physical or mental energy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000741","HPO_Synonym__c":"Lack of feeling, emotion, interest; Lack of feeling, emotion, interest, motivation, initiation; State of indifference","HPO_Name__c":"Apathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99966","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction in the freedom of movement of one or more joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001376","HPO_Synonym__c":"Decreased joint mobility; Decreased mobility of joints; Limitation of joint mobility; Limited joint mobility; Limited joint motion","HPO_Name__c":"Limitation of joint mobility","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99966","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006824","HPO_Synonym__c":"Cranial nerve palsies; Cranial nerve palsy; Cranial nerve paresis","HPO_Name__c":"Cranial nerve paralysis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99966","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of calcium deposition within the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002514","HPO_Synonym__c":"Abnormal deposits of calcium in the brain","HPO_Name__c":"Cerebral calcification","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99966","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:99966","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99966","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A tumor that originates in the pineal gland, has moderate cellularity and tends to form rosette patterns.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100836","HPO_Synonym__c":"Malignant neoplasm of the CNS","HPO_Name__c":"Malignant neoplasm of the central nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99966","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002076","HPO_Synonym__c":"Intermittent migraine headaches; Migraine; Migraine headache; Migraine headaches","HPO_Name__c":"Migraine","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99966","HPO_Frequency__c":"Frequent (30-79%)","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:99966","HPO_Frequency__c":"Frequent (30-79%)","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:99966","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000256","HPO_Synonym__c":"Increased size of cranium; Increased size of skull; Large head; Large head circumference; Macrocephalus; Macrocrania; Megacephaly","HPO_Name__c":"Macrocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99966","HPO_Frequency__c":"Frequent (30-79%)","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:99966","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000737","HPO_Synonym__c":"Cranky; Easily annoyed; Easily bothered; Easily upset; Grumpy; Hot-temper; Irritability; Irritable; Irritable mood; On edge; Quick-temper; Short fuse; Short tempered","HPO_Name__c":"Irritability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Cancer - Oncologist","Neurology","Pediatrics"],"Disease Category":["Cancer","Neurology"]},"synonyms":["at/rt"," atrt"," att/rht"," atypical teratoid/rhabdoid tumor"," atypical teratoid/rhabdoid tumor (morphologic abnormality)"," atypical teratoid/rhabdoid tumor (who grade iv)"," atypical teratoid/rhabdoid tumour"," atypical teratoid/rhabdoid tumour (morphologic abnormality)"," atypical teratoid/rhabdoid tumour (who grade iv)"," central nervous system rhabdoid neoplasm"," central nervous system rhabdoid tumor"," central nervous system rhabdoid tumour"," cns rhabdoid neoplasm"," cns rhabdoid tumor"," cns rhabdoid tumour"," malignant brain rhabdoid neoplasm"," malignant brain rhabdoid tumor"," malignant brain rhabdoid tumour"," malignant rhabdoid neoplasm of brain"," malignant rhabdoid neoplasm of the brain"," malignant rhabdoid tumor of brain"," malignant rhabdoid tumor of the brain"," malignant rhabdoid tumour of brain"," malignant rhabdoid tumour of the brain"," primary malignant brain rhabdoid neoplasm"," primary malignant brain rhabdoid tumor"," primary malignant brain rhabdoid tumour"," primary malignant rhabdoid neoplasm of brain"," primary malignant rhabdoid neoplasm of the brain"," primary malignant rhabdoid tumor of brain"," primary malignant rhabdoid tumor of the brain"," primary malignant rhabdoid tumour of brain"," primary malignant rhabdoid tumour of the brain"," rhabdoid neoplasm of central nervous system"," rhabdoid neoplasm of cns"," rhabdoid neoplasm of the central nervous system"," rhabdoid neoplasm of the cns"," rhabdoid tumor of central nervous system"," rhabdoid tumor of cns"," rhabdoid tumor of the central nervous system"," rhabdoid tumor of the cns"," rhabdoid tumour of central nervous system"," rhabdoid tumour of cns"," rhabdoid tumour of the central nervous system"," rhabdoid tumour of the cns"]}