{"Name":"3-Methylglutaconic aciduria type 3","DiseaseID__c":"GARD:0005663","id":5663,"encodedName":"3-methylglutaconic-aciduria-type-3","IsDeleted":false,"Disease_Name_Full__c":"3-Methylglutaconic aciduria type 3","Xref_IDs__c":"297232009; C0574084; C535311; DOID:0110004; MEDGEN:108273; MONDO:0009787; OMIM:258501; ORPHA:67047","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009787","Disease_Description__c":"3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.","GARD_Name__c":"3-Methylglutaconic aciduria type 3","GARD_Synonym__c":"3-methylglutaconic aciduria caused by mutation in opa3; 3-methylglutaconic aciduria type iii; autosomal recessive optic atrophy plus syndrome; autosomal recessive optic atrophy type 3; costeff optic atrophy syndrome; costeff syndrome; infantile optic atrophy with chorea and spastic paraplegia; iraqi-jewish optic atrophy plus; mga3; mgca3; opa3 3-methylglutaconic aciduria; opa3-related 3-methylglutaconic aciduria; opa3, autosomal recessive; optic atrophy 3, autosomal recessive","Curated_Disease_Description_Source__c":"MONDO:0009787","Curated_Disease_Description__c":"3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:67047","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009787","ORPHANET_ID__c":"ORPHA:67047","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Aciduria 3-metilglutacónica tipo 3","Spanish_Description_Source__c":"ORPHA:67047","Spanish_Description__c":"La aciduria 3-metilglutacónica de tipo III (MGA III) es una aciduria orgánica caracterizada por la asociación de atrofia óptica y coreoatetosis en presencia de una aciduria 3-metilglutacónica.","Spanish_Disease_Name__c":"aciduria 3-metilglutacónica tipo 3","Spanish_GARD_Synonym__c":"atrofia óptica autosómica recesiva tipo 3; atrofia óptica infantil con corea y paraplejía espástica; mga 3; síndrome de atrofia óptica de costeff; síndrome de atrofia óptica plus autosómica recesiva; síndrome de costeff","Category_Linearization__c":"ORPHA:68367","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":"3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria.","Curated_Disease_Description_Source__c":"MONDO:0009787","GARD_Synonym__c":"3-methylglutaconic aciduria caused by mutation in opa3; 3-methylglutaconic aciduria type iii; autosomal recessive optic atrophy plus syndrome; autosomal recessive optic atrophy type 3; costeff optic atrophy syndrome; costeff syndrome; infantile optic atrophy with chorea and spastic paraplegia; iraqi-jewish optic atrophy plus; mga3; mgca3; opa3 3-methylglutaconic aciduria; opa3-related 3-methylglutaconic aciduria; opa3, autosomal recessive; optic atrophy 3, autosomal recessive","Name":"3-Methylglutaconic aciduria type 3","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"Organic Acidemia Association","Website__c":"https://oaanews.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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"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:67047"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Secondary","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/3MGA"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0574084"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005663","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1473","Source__c":"Gene Review","Xref__c":"NBK1473"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535311","Source__c":"MONDO:0009787","Xref__c":"C535311"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=108273","Source__c":"C0574084","Xref__c":"MEDGEN:108273"},{"URL__c":"https://www.orpha.net/en/disease/detail/67047","Source__c":"C0574084; MONDO:0009787; ORPHA:67047","Xref__c":"ORPHA:67047"},{"URL__c":"https://www.omim.org/entry/258501","Source__c":"C0574084; MONDO:0009787; ORPHA:67047","Xref__c":"OMIM:258501"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=297232009","Source__c":"C0574084; MONDO:0009787","Xref__c":"297232009"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110004","Source__c":"MONDO:0009787","Xref__c":"DOID:0110004"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0574084","Source__c":"C0574084","Xref__c":"C0574084"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009787","Source__c":"GARD:0005663","Xref__c":"MONDO:0009787"},{"URL__c":"https://medlineplus.gov/genetics/condition/costeff-syndrome"},{"URL__c":"https://medlineplus.gov/genetics/condition/costeff-syndrome","Source__c":"GARD:0005663","Xref__c":"https://medlineplus.gov/genetics/condition/costeff-syndrome"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"OPA3","GHR_URL__c":"https://medlineplus.gov/genetics/gene/opa3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:67047","HPO_Frequency__c":"Frequent (30-79%)","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:67047","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67047","HPO_Frequency__c":"Occasional (5-29%)","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:67047","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67047","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increased amount of 3-methylglutaconic acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003535","HPO_Synonym__c":"3-Methylglutaconicaciduria","HPO_Name__c":"3-Methylglutaconic aciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:67047","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001266","HPO_Synonym__c":"Choreoathetoid movements","HPO_Name__c":"Choreoathetosis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67047","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Partial loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002313","HPO_Name__c":"Spastic paraparesis","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67047","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:67047","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001260","HPO_Synonym__c":"Difficulty articulating speech; Dysarthric speech","HPO_Name__c":"Dysarthria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Inborn Errors of Metabolism"],"Specialist":["Genetics","Ophthalmology","Neuro-Ophthalmology","Pediatrics"]},"synonyms":["3-methylglutaconic aciduria caused by mutation in opa3"," 3-methylglutaconic aciduria type iii"," autosomal recessive optic atrophy plus syndrome"," autosomal recessive optic atrophy type 3"," costeff optic atrophy syndrome"," costeff syndrome"," infantile optic atrophy with chorea and spastic paraplegia"," iraqi-jewish optic atrophy plus"," mga3"," mgca3"," opa3 3-methylglutaconic aciduria"," opa3-related 3-methylglutaconic aciduria"," opa3, autosomal recessive"," optic atrophy 3, autosomal recessive"]}