{"Name":"Spinocerebellar ataxia type 15/16","DiseaseID__c":"GARD:0010477","id":10477,"encodedName":"spinocerebellar-ataxia-type-1516","IsDeleted":false,"Disease_Name_Full__c":"Spinocerebellar ataxia type 15/16","Xref_IDs__c":"716724006; C150250; C1847725; C564685; DOID:0050965; MEDGEN:338301; MONDO:0011694; OMIM:606658; ORPHA:98769","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":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011694","Disease_Description__c":"Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment.","GARD_Name__c":"Spinocerebellar ataxia type 15/16","GARD_Synonym__c":"sca15; sca15/16; scar16; spinocerebellar ataxia type 15; spinocerebellar ataxia type 16","Curated_Disease_Description_Source__c":"GARD:0010477","Curated_Disease_Description__c":"Spinocerebellar ataxia type 15/16 is a neurological condition characterized by slowly progressive gait and limb ataxia, often in combination with eye movement abnormalities and balance, speech and swallowing difficulties. Spinocerebellar ataxia type 15/16 is caused by genetic changes in the ITPR1 gene. It is inherited in an autosomal dominant manner. Diagnosis is based on clinical history, physical examination, molecular genetic testing, and exclusion of other similar diseases.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:98769","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011694","ORPHANET_ID__c":"ORPHA:98769","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ataxia espinocerebelosa tipo 15/16","Spanish_Description_Source__c":"ORPHA:98769","Spanish_Description__c":"La ataxia espinocerebelosa tipo 15/16 (SCA15/16) es un subtipo poco común de ataxia cerebelosa autosómica dominante tipo 1 (ADCA tipo I; consulte este término). Se caracteriza por ataxia cerebelosa, temblores y deterioro cognitivo.","Spanish_Disease_Name__c":"ataxia espinocerebelosa tipo 15/16","Spanish_GARD_Synonym__c":"sca15/16","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":"Spinocerebellar ataxia type 15/16 is a neurological condition characterized by slowly progressive gait and limb ataxia, often in combination with eye movement abnormalities and balance, speech and swallowing difficulties. Spinocerebellar ataxia type 15/16 is caused by genetic changes in the ITPR1 gene. It is inherited in an autosomal dominant manner. Diagnosis is based on clinical history, physical examination, molecular genetic testing, and exclusion of other similar diseases.","Curated_Disease_Description_Source__c":"GARD:0010477","GARD_Synonym__c":"sca15; sca15/16; scar16; spinocerebellar ataxia type 15; spinocerebellar ataxia type 16","Name":"Spinocerebellar ataxia type 15/16","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Ataxia Foundation","Website__c":"https://ataxia.org/"},{"Account_Name__c":"Ataxia UK","Website__c":"https://www.ataxia.org.uk/"}],"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":"Ataxia","Tag_Category__c":"Account","curated_tag_name":"Ataxia"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:98769"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:98769"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1847725"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010477","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1362","Xref__c":"NBK1362"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1138","Source__c":"Gene Review","Xref__c":"NBK1138"},{"URL__c":"https://www.orpha.net/en/disease/detail/98769","Source__c":"C1847725; MONDO:0011694; ORPHA:98769","Xref__c":"ORPHA:98769"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564685","Source__c":"MONDO:0011694","Xref__c":"C564685"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716724006","Source__c":"C1847725; MONDO:0011694","Xref__c":"716724006"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050965","Source__c":"MONDO:0011694","Xref__c":"DOID:0050965"},{"URL__c":"https://www.omim.org/entry/606658","Source__c":"C1847725; MONDO:0011694; ORPHA:98769","Xref__c":"OMIM:606658"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C150250","Source__c":"MONDO:0011694","Xref__c":"C150250"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=338301","Source__c":"C1847725","Xref__c":"MEDGEN:338301"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1847725","Source__c":"C1847725","Xref__c":"C1847725"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011694","Source__c":"GARD:0010477","Xref__c":"MONDO:0011694"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ITPR1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/itpr1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:98769","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement affecting head movement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002346","HPO_Synonym__c":"Head tremor","HPO_Name__c":"Head tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98769","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002066","HPO_Synonym__c":"Ataxia of gait; Ataxic gait; Inability to coordinate movements when walking","HPO_Name__c":"Gait ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98769","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001347","HPO_Synonym__c":"Increased deep tendon reflexes; Increased reflexes","HPO_Name__c":"Hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98769","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Tremor classified by the affected body part.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030188","HPO_Synonym__c":"Tremor of a body part","HPO_Name__c":"Tremor by anatomical site","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98769","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of tremors that is triggered by holding an arm in a fixed position.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007351","HPO_Synonym__c":"Postural tremor of arms","HPO_Name__c":"Upper limb postural tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98769","HPO_Frequency__c":"Very frequent (80-99%)","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:98769","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A tremor present when the limbs are active, either when outstretched in a certain position or throughout a voluntary movement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002345","HPO_Name__c":"Action tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98769","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001272","HPO_Synonym__c":"Atrophic cerebellum; Degeneration of cerebellum","HPO_Name__c":"Cerebellar atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Psychiatry"],"Account":["Ataxia"]},"synonyms":["sca15"," sca15/16"," scar16"," spinocerebellar ataxia type 15"," spinocerebellar ataxia type 16"]}