{"Name":"Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome","DiseaseID__c":"GARD:0001188","id":1188,"encodedName":"cerebellar-ataxia-areflexia-pes-cavus-optic-atrophy-sensorineural-hearing-loss-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome","Xref_IDs__c":"720634003; C1832466; C535351; MEDGEN:318633; MONDO:0011038; OMIM:601338; ORPHA:1171","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":7,"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:0011038","Disease_Description__c":"A rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.","GARD_Name__c":"Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome","GARD_Synonym__c":"capos; capos (cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss) syndrome; capos syndrome; cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome; cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss; cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss; cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome","Curated_Disease_Description_Source__c":"GARD:0001188","Curated_Disease_Description__c":"Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome is a neurological disorder. The syndrome gets its name from the different parts of the body it usually affects: Cerebellar ataxia: inflammation of the cerebellum, the part of the brain that helps control the coordination of muscle movement Areflexia: loss of reflexes Pes cavus: high arch in foot Optic atrophy: damage to the optic nerve of the eye Sensorinural hearing loss: damage to the nerves involved in hearing CAPOS syndrome typically begins after a fever-related illness with a sudden episode of ataxia, such as having a hard time walking or coordinating leg or arm movements. The ataxia is usually associated with generalized weakness and/or inflammation of the brain (encephalopathy). Pregnancy and delivery may also trigger episodes. Most people with CAPOS syndrome have one to three episodes during their lifetime. Other signs and symptoms during an episode may include low muscle tone, unusual eye movements (nystagmus or strabismus), problems with speech (dysarthria), difficulty swallowing (dysphagia), reduced or absent reflexes, and hearing loss. Some people may lose consciousness or go into a coma during an episode. Though many of the signs and symptoms of CAPOS syndrome get better as the fever and illness improve, some symptoms, including movement problems, may continue.","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:1171","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011038","ORPHANET_ID__c":"ORPHA:1171","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de ataxia cerebelosa-arreflexia-pies cavos-atrofia óptica-hipoacusia neurosensorial","Spanish_Description_Source__c":"ORPHA:1171","Spanish_Description__c":"Es un trastorno neurológico autosómico dominante y poco frecuente caracterizado por ataxia cerebelosa de inicio temprano junto con arreflexia, atrofia óptica progresiva, sordera neurosensorial, pies cavos y movimientos oculares anómalos.","Spanish_Disease_Name__c":"síndrome de ataxia cerebelosa-arreflexia-pies cavos-atrofia óptica-hipoacusia neurosensorial","Spanish_GARD_Synonym__c":"síndrome capos; síndrome de ataxia cerebelosa-arreflexia-pies cavos-atrofia óptica-sordera neurosensorial","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":"Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome is a neurological disorder. The syndrome gets its name from the different parts of the body it usually affects: Cerebellar ataxia: inflammation of the cerebellum, the part of the brain that helps control the coordination of muscle movement Areflexia: loss of reflexes Pes cavus: high arch in foot Optic atrophy: damage to the optic nerve of the eye Sensorinural hearing loss: damage to the nerves involved in hearing CAPOS syndrome typically begins after a fever-related illness with a sudden episode of ataxia, such as having a hard time walking or coordinating leg or arm movements. The ataxia is usually associated with generalized weakness and/or inflammation of the brain (encephalopathy). Pregnancy and delivery may also trigger episodes. Most people with CAPOS syndrome have one to three episodes during their lifetime. Other signs and symptoms during an episode may include low muscle tone, unusual eye movements (nystagmus or strabismus), problems with speech (dysarthria), difficulty swallowing (dysphagia), reduced or absent reflexes, and hearing loss. Some people may lose consciousness or go into a coma during an episode. Though many of the signs and symptoms of CAPOS syndrome get better as the fever and illness improve, some symptoms, including movement problems, may continue.","Curated_Disease_Description_Source__c":"GARD:0001188","GARD_Synonym__c":"capos; capos (cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss) syndrome; capos syndrome; cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome; cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss; cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss; cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome","Name":"Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss s","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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Psychiatry","Tag_Category__c":"Specialist"},{"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":"Mitochondrial","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Mitochondrial diseases are a group of genetic diseases that affect the ability of the body's cells to make energy.","curated_tag_name":"Mitochondrial diseases"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Ataxia","Tag_Category__c":"Account","curated_tag_name":"Ataxia"},{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:1171"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:1171"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1832466"},{"Type__c":"GTR","Curie__c":"MEDGEN:C3276549"},{"Type__c":"GTR","Curie__c":"MEDGEN:C4275164"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001188","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1115","Source__c":"Gene Review","Xref__c":"NBK1115"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720634003","Source__c":"C1832466; MONDO:0011038","Xref__c":"720634003"},{"URL__c":"https://www.omim.org/entry/601338","Source__c":"C1832466; MONDO:0011038; ORPHA:1171","Xref__c":"OMIM:601338"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832466","Source__c":"C1832466","Xref__c":"C1832466"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535351","Source__c":"MONDO:0011038","Xref__c":"C535351"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=318633","Source__c":"C1832466","Xref__c":"MEDGEN:318633"},{"URL__c":"https://www.orpha.net/en/disease/detail/1171","Source__c":"C1832466; MONDO:0011038; ORPHA:1171","Xref__c":"ORPHA:1171"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011038","Source__c":"GARD:0001188","Xref__c":"MONDO:0011038"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ATP1A3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/atp1a3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1171","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1171","HPO_Frequency__c":"Occasional (5-29%)","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:1171","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000729","HPO_Synonym__c":"ASD; Pervasive developmental disorder","HPO_Name__c":"Autistic behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1171","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001284","HPO_Synonym__c":"Absent deep tendon reflexes; Absent tendon reflexes; Deep tendon reflexes absent; Loss of deep tendon reflexes; Lost deep tendon reflexes","HPO_Name__c":"Areflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1171","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001298","HPO_Name__c":"Encephalopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1171","HPO_Frequency__c":"Occasional (5-29%)","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:1171","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001761","HPO_Synonym__c":"Cavus foot; High-arched foot","HPO_Name__c":"Pes cavus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1171","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1171","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:1171","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:1171","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:1171","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001332","HPO_Synonym__c":"Dystonic movements","HPO_Name__c":"Dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1171","HPO_Frequency__c":"Occasional (5-29%)","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"}}],"tags":{"Cause":["Genetics","Mitochondrial"],"Disease Category":["Genetics","Neurology","Congenital Abnormality","Mitochondrial"],"Specialist":["Genetics","Neurology","Ophthalmology","Psychiatry","Otolaryngology","Neuro-Ophthalmology","Pediatrics"],"Account":["Mitochondrial","Ataxia"]},"synonyms":["capos"," capos (cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss) syndrome"," capos syndrome"," cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome"," cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss"," cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss"," cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome"]}