{"Name":"X-linked spinocerebellar ataxia type 3","DiseaseID__c":"GARD:0009981","id":9981,"encodedName":"x-linked-spinocerebellar-ataxia-type-3","IsDeleted":false,"Disease_Name_Full__c":"X-linked spinocerebellar ataxia type 3","Xref_IDs__c":"719817002; C1844936; C537315; DOID:0111831; MEDGEN:337124; MONDO:0010529; OMIM:301790; ORPHA:85297","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":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010529","Disease_Description__c":"X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait.","GARD_Name__c":"X-linked spinocerebellar ataxia type 3","GARD_Synonym__c":"scax3; spinocerebellar ataxia, x-linked type 3; x-linked ataxia deafness syndrome; x-linked ataxia-deafness syndrome; x-linked ataxia-hearing loss syndrome","Curated_Disease_Description_Source__c":"MONDO:0010529","Curated_Disease_Description__c":"X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described in one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:85297","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010529","ORPHANET_ID__c":"ORPHA:85297","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ataxia espinocerebelosa ligada al cromosoma x tipo 3","Spanish_Description_Source__c":"ORPHA:85297","Spanish_Description__c":"Es una forma de degeneración espinocerebelosa caracterizada por el inicio en el lactante de hipotonía, ataxia, sordera neurosensorial, retraso del desarrollo, esotropía y atrofia óptica, y por un curso progresivo que conduce al fallecimiento en la infancia. Se ha descrito una familia con al menos seis varones afectos de cinco hermandades diferentes (emparentados a través de mujeres portadoras). Se transmite como un rasgo recesivo ligado al cromosoma X.","Spanish_Disease_Name__c":"ataxia espinocerebelosa ligada al cromosoma x tipo 3","Spanish_GARD_Synonym__c":"scax3; síndrome de hipoacusia-ataxia ligada al cromosoma x; síndrome de sordera-ataxia ligada al cromosoma x","Category_Linearization__c":"ORPHA:93890","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":"X-linked spinocerebellar ataxia type 3 is a form of spinocerebellar degeneration characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy, and by a progressive course leading to death in childhood. It has been described in one family with at least six affected males from five different sibships (connected through carrier females). It is transmitted as an X-linked recessive trait.","Curated_Disease_Description_Source__c":"MONDO:0010529","GARD_Synonym__c":"scax3; spinocerebellar ataxia, x-linked type 3; x-linked ataxia deafness syndrome; x-linked ataxia-deafness syndrome; x-linked ataxia-hearing loss syndrome","Name":"X-linked spinocerebellar ataxia type 3","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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"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":"Childhood","Provided_By__c":"ORPHA:85297"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/301790","Source__c":"C1844936; MONDO:0010529; ORPHA:85297","Xref__c":"OMIM:301790"},{"URL__c":"https://www.orpha.net/en/disease/detail/85297","Source__c":"C1844936; MONDO:0010529; ORPHA:85297","Xref__c":"ORPHA:85297"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1844936","Source__c":"C1844936","Xref__c":"C1844936"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111831","Source__c":"MONDO:0010529","Xref__c":"DOID:0111831"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=337124","Source__c":"C1844936","Xref__c":"MEDGEN:337124"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719817002","Source__c":"C1844936; MONDO:0010529","Xref__c":"719817002"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537315","Source__c":"MONDO:0010529","Xref__c":"C537315"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010529","Source__c":"GARD:0009981","Xref__c":"MONDO:0010529"}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:85297","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000565","HPO_Synonym__c":"Inward turning cross eyed","HPO_Name__c":"Esotropia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85297","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000648","HPO_Synonym__c":"Optic nerve atrophy; Optic-nerve degeneration","HPO_Name__c":"Optic atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85297","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85297","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85297","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85297","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"Account":["Ataxia"]},"synonyms":["scax3"," spinocerebellar ataxia, x-linked type 3"," x-linked ataxia deafness syndrome"," x-linked ataxia-deafness syndrome"," x-linked ataxia-hearing loss syndrome"]}