{"Name":"Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia","DiseaseID__c":"GARD:0009283","id":9283,"encodedName":"ataxia-early-onset-with-oculomotor-apraxia-and-hypoalbuminemia","IsDeleted":false,"Disease_Name_Full__c":"Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia","Xref_IDs__c":"C173401; C1859598; C538013; DOID:0050754; MEDGEN:395301; MONDO:0008842; OMIM:208920; ORPHA:1168","USA_Estimate__c":null,"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":null,"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:0008842","Disease_Description__c":"A rare autosomal recessive cerebellar ataxia, characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.","GARD_Name__c":"Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia","GARD_Synonym__c":"aoa1; aoa1 (ataxia oculomotor apraxia type 1); aptx oculomotor apraxia or related oculomotor disease; ataxia oculomotor apraxia type 1; ataxia with oculomotor apraxia type 1; ataxia-oculomotor apraxia syndrome; ataxia-oculomotor apraxia type 1; ataxia-telangiectasia-like syndrome; autosomal recessive ataxia with oculomotor apraxia type 1; autosomal recessive cerebellar ataxia with oculomotor apraxia type 1; eaoh; oculomotor apraxia or related oculomotor disease caused by mutation in aptx","Curated_Disease_Description_Source__c":"MONDO:0008842","Curated_Disease_Description__c":"A rare autosomal recessive cerebellar ataxia, characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:1168","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008842","ORPHANET_ID__c":"ORPHA:1168","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Ataxia-apraxia oculomotora tipo 1","Spanish_Description_Source__c":"ORPHA:1168","Spanish_Description__c":"Es una ataxia cerebelosa autosómica recesiva poco frecuente caracterizada por ataxia cerebelosa progresiva asociada a apraxia oculomotora, neuropatía grave e hipoalbuminemia.","Spanish_Disease_Name__c":"ataxia-apraxia oculomotora tipo 1","Spanish_GARD_Synonym__c":"aoa1","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 autosomal recessive cerebellar ataxia, characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.","Curated_Disease_Description_Source__c":"MONDO:0008842","GARD_Synonym__c":"aoa1; aoa1 (ataxia oculomotor apraxia type 1); aptx oculomotor apraxia or related oculomotor disease; ataxia oculomotor apraxia type 1; ataxia with oculomotor apraxia type 1; ataxia-oculomotor apraxia syndrome; ataxia-oculomotor apraxia type 1; ataxia-telangiectasia-like syndrome; autosomal recessive ataxia with oculomotor apraxia type 1; autosomal recessive cerebellar ataxia with oculomotor apraxia type 1; eaoh; oculomotor apraxia or related oculomotor disease caused by mutation in aptx","Name":"Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"AT Society","Website__c":"https://atsociety.org.uk/"},{"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":"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":"Childhood","Provided_By__c":"ORPHA:1168"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1859598"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009283","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1456","Xref__c":"NBK1456"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1138","Source__c":"Gene Review","Xref__c":"NBK1138"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538013","Source__c":"MONDO:0008842","Xref__c":"C538013"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=395301","Source__c":"C1859598","Xref__c":"MEDGEN:395301"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050754","Source__c":"MONDO:0008842","Xref__c":"DOID:0050754"},{"URL__c":"https://www.orpha.net/en/disease/detail/1168","Source__c":"C1859598; MONDO:0008842; ORPHA:1168","Xref__c":"ORPHA:1168"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1859598","Source__c":"C1859598","Xref__c":"C1859598"},{"URL__c":"https://www.omim.org/entry/208920","Source__c":"C1859598; MONDO:0008842; ORPHA:1168","Xref__c":"OMIM:208920"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008842","Source__c":"GARD:0009283","Xref__c":"MONDO:0008842"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715366004","Source__c":"C1859598","Xref__c":"715366004"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C173401","Source__c":"C1859598","Xref__c":"C173401"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"APTX","GHR_URL__c":"https://medlineplus.gov/genetics/gene/aptx","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1168","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000707","HPO_Synonym__c":"Abnormality of the nervous system; Neurologic abnormalities; Neurological abnormality","HPO_Name__c":"Abnormality of the nervous system","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1168","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:1168","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal distribution of eyebrow hair growth in the medial direction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010747","HPO_Synonym__c":"Medially flared eyebrows","HPO_Name__c":"Medial flaring of the eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1168","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1168","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009830","HPO_Synonym__c":"Peripheral nerve damage; Peripheral neuritis","HPO_Name__c":"Peripheral neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Ophthalmology","Psychiatry","Neuro-Ophthalmology","Pediatrics"],"Account":["Ataxia"]},"synonyms":["aoa1"," aoa1 (ataxia oculomotor apraxia type 1)"," aptx oculomotor apraxia or related oculomotor disease"," ataxia oculomotor apraxia type 1"," ataxia with oculomotor apraxia type 1"," ataxia-oculomotor apraxia syndrome"," ataxia-oculomotor apraxia type 1"," ataxia-telangiectasia-like syndrome"," autosomal recessive ataxia with oculomotor apraxia type 1"," autosomal recessive cerebellar ataxia with oculomotor apraxia type 1"," eaoh"," oculomotor apraxia or related oculomotor disease caused by mutation in aptx"]}