{"Name":"Spinocerebellar ataxia, autosomal recessive 23","DiseaseID__c":"GARD:0017677","id":17677,"encodedName":"spinocerebellar-ataxia-autosomal-recessive-23","IsDeleted":false,"Disease_Name_Full__c":"Spinocerebellar ataxia, autosomal recessive 23","Xref_IDs__c":"C4750914; DOID:0111613; MEDGEN:1667331; MONDO:0014846; OMIM:616949; ORPHA:404493","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"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":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:404493","Disease_Description__c":"A rare hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.","GARD_Name__c":"Spinocerebellar ataxia, autosomal recessive 23","GARD_Synonym__c":"autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to tud deficiency; autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to tud deficiency; autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to tud deficiency; scar23; scar23 - spinocerebellar ataxia autosomal recessive type 23; spinocerebellar ataxia autosomal recessive type 23; spinocerebellar ataxia, autosomal recessive type 23","Curated_Disease_Description_Source__c":"ORPHA:404493","Curated_Disease_Description__c":"A rare hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:404493","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014846","ORPHANET_ID__c":"ORPHA:404493","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de ataxia cerebelosa-epilepsia-discapacidad intelectual autosómico recesivo por deficiencia de tud","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de ataxia cerebelosa-epilepsia-discapacidad intelectual autosómico recesivo por deficiencia de tud","Spanish_GARD_Synonym__c":"ataxia espinocerebelosa autosómica recesiva tipo 23; scar23","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 hereditary ataxia characterized by an early onset symptomatic generalized epilepsy, progressive cerebellar ataxia resulting in significant difficulties to walk or wheelchair dependency, and intellectual disability.","Curated_Disease_Description_Source__c":"ORPHA:404493","GARD_Synonym__c":"autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to tud deficiency; autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to tud deficiency; autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to tud deficiency; scar23; scar23 - spinocerebellar ataxia autosomal recessive type 23; spinocerebellar ataxia autosomal recessive type 23; spinocerebellar ataxia, autosomal recessive type 23","Name":"Spinocerebellar ataxia, autosomal recessive 23","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Ataxia Foundation","Website__c":"https://ataxia.org/"}],"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":"Psychiatry","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Ataxia","Tag_Category__c":"Account","curated_tag_name":"Ataxia"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:404493"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:404493"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/616949","Source__c":"C4750914; MONDO:0014846; ORPHA:404493","Xref__c":"OMIM:616949"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4750914","Source__c":"C4750914","Xref__c":"C4750914"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111613","Source__c":"MONDO:0014846","Xref__c":"DOID:0111613"},{"URL__c":"https://www.orpha.net/en/disease/detail/404493","Source__c":"C4750914; MONDO:0014846; ORPHA:404493","Xref__c":"ORPHA:404493"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1667331","Source__c":"C4750914","Xref__c":"MEDGEN:1667331"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=773498006","Source__c":"C4750914","Xref__c":"773498006"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014846","Source__c":"GARD:0017677","Xref__c":"MONDO:0014846"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TDP2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:404493","HPO_Frequency__c":"Very frequent (80-99%)","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:404493","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal morphology (form) of the face or its components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001999","HPO_Synonym__c":"Abnormal facial shape; Abnormal morphology of the face; Distinctive facies; Dysmorphic facial features; Dysmorphic facies; Facial dysmorphism; Unusual facial appearance; Unusual facies","HPO_Name__c":"Abnormal facial shape","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:404493","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000248","HPO_Synonym__c":"Short and broad skull","HPO_Name__c":"Brachycephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:404493","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Generalized muscular hypotonia (abnormally low muscle tone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001290","HPO_Synonym__c":"Generalized decreased muscle tone; Generalized muscular hypotonia; Hypotonia, generalized","HPO_Name__c":"Generalized hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:404493","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:404493","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Psychiatry","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"Account":["Epilepsy","Ataxia"]},"synonyms":["autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to tud deficiency"," autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to tud deficiency"," autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to tud deficiency"," scar23"," scar23 - spinocerebellar ataxia autosomal recessive type 23"," spinocerebellar ataxia autosomal recessive type 23"," spinocerebellar ataxia, autosomal recessive type 23"]}