{"Name":"Benign paroxysmal tonic upgaze of childhood with ataxia","DiseaseID__c":"GARD:0004176","id":4176,"encodedName":"benign-paroxysmal-tonic-upgaze-of-childhood-with-ataxia","IsDeleted":false,"Disease_Name_Full__c":"Benign paroxysmal tonic upgaze of childhood with ataxia","Xref_IDs__c":"763127004; C1868576; C566817; MEDGEN:401473; MONDO:0008206; OMIM:168885; ORPHA:1179","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":2,"Description_Source__c":"MONDO:0008206","Disease_Description__c":"Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.","GARD_Name__c":"Benign paroxysmal tonic upgaze of childhood with ataxia","GARD_Synonym__c":"neuroocular syndrome 2, paroxysmal type; noc2; ouvrier billson syndrome; ouvrier-billson syndrome; paroxysmal tonic upgaze, benign childhood, with ataxia","Curated_Disease_Description_Source__c":"MONDO:0008206","Curated_Disease_Description__c":"A rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:1179","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008206","ORPHANET_ID__c":"ORPHA:1179","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Desviación tónica paroxística benigna de la mirada hacia arriba de la infancia con ataxia","Spanish_Description_Source__c":"ORPHA:1179","Spanish_Description__c":"La desviación tónica paroxística benigna de la mirada hacia arriba de la infancia con ataxia es un trastorno poco frecuente de los trastornos paroxísticos del movimiento. Se caracteriza por episodios de desviación sostenida, conjugada y ascendente de los ojos y movimientos sacádicos hacia abajo en el intento de bajar la mirada (con conservación de los movimientos oculares horizontales) acompañado de sintomatología atáxica (marcha inestable, falta de equilibrio y alteraciones en la coordinación del movimiento) en un individuo por lo demás saludable. Está asociado a nistagmo vertical bilateral. Por lo general, los síntomas desaparecen espontáneamente entre 1-2 años después del inicio.","Spanish_Disease_Name__c":"desviación tónica paroxística benigna de la mirada hacia arriba de la infancia con ataxia","Spanish_GARD_Synonym__c":"síndrome de ouvrier-billson","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":"A rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.","Curated_Disease_Description_Source__c":"MONDO:0008206","GARD_Synonym__c":"neuroocular syndrome 2, paroxysmal type; noc2; ouvrier billson syndrome; ouvrier-billson syndrome; paroxysmal tonic upgaze, benign childhood, with ataxia","Name":"Benign paroxysmal tonic upgaze of childhood with ataxia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"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":"Infancy","Provided_By__c":"ORPHA:1179"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1179"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C566817","Source__c":"MONDO:0008206","Xref__c":"C566817"},{"URL__c":"https://www.orpha.net/en/disease/detail/1179","Source__c":"C1868576; MONDO:0008206; ORPHA:1179","Xref__c":"ORPHA:1179"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763127004","Source__c":"C1868576; MONDO:0008206","Xref__c":"763127004"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=401473","Source__c":"C1868576","Xref__c":"MEDGEN:401473"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1868576","Source__c":"C1868576","Xref__c":"C1868576"},{"URL__c":"https://www.omim.org/entry/168885","Source__c":"C1868576; MONDO:0008206; ORPHA:1179","Xref__c":"OMIM:168885"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008206","Source__c":"GARD:0004176","Xref__c":"MONDO:0008206"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DAGLA","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1179","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality in voluntary or involuntary eye movements or their control.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000496","HPO_Synonym__c":"Abnormal extraocular movement; Abnormal extraocular movements; Abnormal eye motility; Abnormal eye movement; Abnormal eye movements; Abnormal motility of the globe of the eye; Abnormal movement of the globe of the eye; Abnormal ocular movements; Abnormality of eye movement; Eye movement abnormalities; Eye movement issue; Ocular movement abnormalities; Oculomotor abnormalities","HPO_Name__c":"Abnormality of eye movement","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1179","HPO_Frequency__c":"Very frequent (80-99%)","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:1179","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Pediatrics"]},"synonyms":["neuroocular syndrome 2, paroxysmal type"," noc2"," ouvrier billson syndrome"," ouvrier-billson syndrome"," paroxysmal tonic upgaze, benign childhood, with ataxia"]}