{"Name":"Spinocerebellar ataxia type 32","DiseaseID__c":"GARD:0017276","id":17276,"encodedName":"spinocerebellar-ataxia-type-32","IsDeleted":false,"Disease_Name_Full__c":"Spinocerebellar ataxia type 32","Xref_IDs__c":"719254001; C3151343; MEDGEN:462693; MONDO:0013486; OMIM:613909; ORPHA:276183","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":1,"Description_Source__c":"MONDO:0013486","Disease_Description__c":"An autosomal dominant cerebellar ataxia type 1 that is characterized by ataxia and cognitive impairment. Azoospermia is a typical feature in affected males.","GARD_Name__c":"Spinocerebellar ataxia type 32","GARD_Synonym__c":"cerebellar ataxia with azoospermia and intellectual disability; sca32","Curated_Disease_Description_Source__c":"MONDO:0013486","Curated_Disease_Description__c":"An autosomal dominant cerebellar ataxia type 1 that is characterized by ataxia and cognitive impairment. Azoospermia is a typical feature in affected males.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:276183","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013486","ORPHANET_ID__c":"ORPHA:276183","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ataxia espinocerebelosa tipo 32","Spanish_Description_Source__c":"ORPHA:276183","Spanish_Description__c":"Es una ataxia cerebelosa autosómica dominante de tipo I caracterizada por ataxia y deterioro cognitivo. La azoospermia es un hallazgo típico en los varones afectados.","Spanish_Disease_Name__c":"ataxia espinocerebelosa tipo 32","Spanish_GARD_Synonym__c":"ataxia cerebelosa con azoospermia y discapacidad intelectual; sca32","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":"An autosomal dominant cerebellar ataxia type 1 that is characterized by ataxia and cognitive impairment. Azoospermia is a typical feature in affected males.","Curated_Disease_Description_Source__c":"MONDO:0013486","GARD_Synonym__c":"cerebellar ataxia with azoospermia and intellectual disability; sca32","Name":"Spinocerebellar ataxia type 32","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":"Ataxia","Tag_Category__c":"Account","curated_tag_name":"Ataxia"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:276183"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/276183","Source__c":"C3151343; MONDO:0013486; ORPHA:276183","Xref__c":"ORPHA:276183"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719254001","Source__c":"C3151343; MONDO:0013486","Xref__c":"719254001"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3151343","Source__c":"C3151343","Xref__c":"C3151343"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=462693","Source__c":"C3151343","Xref__c":"MEDGEN:462693"},{"URL__c":"https://www.omim.org/entry/613909","Source__c":"C3151343; MONDO:0013486; ORPHA:276183","Xref__c":"OMIM:613909"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013486","Source__c":"GARD:0017276","Xref__c":"MONDO:0013486"}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:276183","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:276183","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000027","HPO_Synonym__c":"Absent sperm in semen","HPO_Name__c":"Azoospermia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276183","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"}},{"Provided_By__c":"ORPHA:276183","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002073","HPO_Synonym__c":"Cerebellar ataxia, progressive; Progressive ataxia","HPO_Name__c":"Progressive cerebellar ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276183","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Wasting (atrophy) of the testicle (the male gonad) manifested by a decrease in size and potentially by a loss of fertility.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000029","HPO_Synonym__c":"Testicular degeneration","HPO_Name__c":"Testicular atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276183","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003251","HPO_Synonym__c":"Male infertility","HPO_Name__c":"Male infertility","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Psychiatry","Neurodevelopmental disabilities"],"Account":["Ataxia"]},"synonyms":["cerebellar ataxia with azoospermia and intellectual disability"," sca32"]}