{"Name":"Ornithine aminotransferase deficiency","DiseaseID__c":"GARD:0006556","id":6556,"encodedName":"ornithine-aminotransferase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Ornithine aminotransferase deficiency","Xref_IDs__c":"C0018425; C84744; D015799; DOID:1415; MEDGEN:6695; MONDO:0009796; OMIM:258870; ORPHA:414","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":9,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009796","Disease_Description__c":"Gyrate atrophy of the choroid and retina (GACR) is a very rare, inherited retinal dystrophy, characterized by progressive chorioretinal atrophy, myopia and early cataract.","GARD_Name__c":"Ornithine aminotransferase deficiency","GARD_Synonym__c":"gacr; girate atrophy of the retina; gyrate atrophy; gyrate atrophy of choroid and retina; gyrate atrophy of choroid and retina with or without ornithinemia; gyrate atrophy of the choroid and/or retina; gyrate atrophy of the retina; hoga; hyperornithinemia; hyperornithinemia with gyrate atrophy of choroid and retina; hyperornithinemia-gyrate atrophy of choroid and retina syndrome; oat deficiency; okt deficiency; ornithine ketoacid aminotransferase deficiency; ornithinemia with gyrate atrophy","Curated_Disease_Description_Source__c":"GARD:0006556","Curated_Disease_Description__c":"Gyrate atrophy of the choroid and retina, which is often shortened to gyrate atrophy, is an inherited disorder characterized by progressive vision loss. People with this disorder have an ongoing loss of cells (atrophy) in the retina, which is the specialized light-sensitive tissue that lines the back of the  eye, and in a nearby tissue layer called the choroid. During childhood, they begin experiencing nearsightedness (myopia), difficulty seeing in low light (night blindness), and loss of side (peripheral) vision. Over time, their field of vision continues to narrow, resulting in tunnel vision. Many people with gyrate atrophy also develop clouding of the lens of the eyes (cataracts). These progressive vision changes lead to blindness by about the age of 50. Most people with gyrate atrophy have no symptoms other than vision loss, but some have additional features of the disorder. Occasionally, newborns with gyrate atrophy develop excess ammonia in the blood (hyperammonemia),  which may lead to poor feeding, vomiting, seizures, or coma. Neonatal hyperammonemia associated with gyrate atrophy generally responds quickly to treatment and does not recur after the newborn period. Gyrate atrophy usually does not affect intelligence; however, abnormalities may be observed in brain imaging or other neurological testing. In some cases, mild to moderate intellectual disability is associated with gyrate atrophy. Gyrate atrophy may also cause disturbances in the nerves connecting the brain and spinal cord to muscles and sensory cells (peripheral nervous system). In some people with the disorder these abnormalities lead to numbness, tingling, or pain in the hands or feet, while in others they are detectable only by electrical testing of the nerve impulses. In some people with gyrate atrophy, a particular type of muscle fibers (type II fibers) break down over time. While this muscle abnormality usually causes no symptoms, it may result in mild weakness.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:414","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009796","ORPHANET_ID__c":"ORPHA:414","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atrofia girata de la coroides y la retina","Spanish_Description_Source__c":"ORPHA:414","Spanish_Description__c":"Es una distrofia retiniana hereditaria muy poco frecuente caracterizada por atrofia coriorretiniana progresiva, miopía y cataratas de aparición temprana.","Spanish_Disease_Name__c":"atrofia girata de la coroides y la retina","Spanish_GARD_Synonym__c":"deficiencia de ornitín aminotransferasa; hiperornitinemia; hiperornitinemia-atrofia girada de la coroides y la retina; hoga","Category_Linearization__c":"ORPHA:97966","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":"Gyrate atrophy of the choroid and retina, which is often shortened to gyrate atrophy, is an inherited disorder characterized by progressive vision loss. People with this disorder have an ongoing loss of cells (atrophy) in the retina, which is the specialized light-sensitive tissue that lines the back of the  eye, and in a nearby tissue layer called the choroid. During childhood, they begin experiencing nearsightedness (myopia), difficulty seeing in low light (night blindness), and loss of side (peripheral) vision. Over time, their field of vision continues to narrow, resulting in tunnel vision. Many people with gyrate atrophy also develop clouding of the lens of the eyes (cataracts). These progressive vision changes lead to blindness by about the age of 50. Most people with gyrate atrophy have no symptoms other than vision loss, but some have additional features of the disorder. Occasionally, newborns with gyrate atrophy develop excess ammonia in the blood (hyperammonemia),  which may lead to poor feeding, vomiting, seizures, or coma. Neonatal hyperammonemia associated with gyrate atrophy generally responds quickly to treatment and does not recur after the newborn period. Gyrate atrophy usually does not affect intelligence; however, abnormalities may be observed in brain imaging or other neurological testing. In some cases, mild to moderate intellectual disability is associated with gyrate atrophy. Gyrate atrophy may also cause disturbances in the nerves connecting the brain and spinal cord to muscles and sensory cells (peripheral nervous system). In some people with the disorder these abnormalities lead to numbness, tingling, or pain in the hands or feet, while in others they are detectable only by electrical testing of the nerve impulses. In some people with gyrate atrophy, a particular type of muscle fibers (type II fibers) break down over time. While this muscle abnormality usually causes no symptoms, it may result in mild weakness.","Curated_Disease_Description_Source__c":"GARD:0006556","GARD_Synonym__c":"gacr; girate atrophy of the retina; gyrate atrophy; gyrate atrophy of choroid and retina; gyrate atrophy of choroid and retina with or without ornithinemia; gyrate atrophy of the choroid and/or retina; gyrate atrophy of the retina; hoga; hyperornithinemia; hyperornithinemia with gyrate atrophy of choroid and retina; hyperornithinemia-gyrate atrophy of choroid and retina syndrome; oat deficiency; okt deficiency; ornithine ketoacid aminotransferase deficiency; ornithinemia with gyrate atrophy","Name":"Ornithine aminotransferase deficiency","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.org"},{"Account_Name__c":"Retina International","Website__c":"https://retina-international.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":"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":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Vascular Neurology","Tag_Category__c":"Specialist","curated_tag_name":"Vascular neurology"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:414"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Other","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/Hyper-ORN"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0018425"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0599035"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006556","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0018425","Source__c":"C0018425","Xref__c":"C0018425"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C84744","Source__c":"C0018425; MONDO:0009796","Xref__c":"C84744"},{"URL__c":"https://www.orpha.net/en/disease/detail/414","Source__c":"C0018425; MONDO:0009796; ORPHA:414","Xref__c":"ORPHA:414"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=6695","Source__c":"C0018425","Xref__c":"MEDGEN:6695"},{"URL__c":"https://www.omim.org/entry/258870","Source__c":"C0018425; MONDO:0009796; ORPHA:414","Xref__c":"OMIM:258870"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A1415","Source__c":"MONDO:0009796","Xref__c":"DOID:1415"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C015799","Source__c":"C0018425; MONDO:0009796","Xref__c":"D015799"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=314467007","Source__c":"C0018425","Xref__c":"314467007"},{"URL__c":"https://medlineplus.gov/genetics/condition/gyrate-atrophy-of-the-choroid-and-retina","Source__c":"GARD:0006556","Xref__c":"https://medlineplus.gov/genetics/condition/gyrate-atrophy-of-the-choroid-and-retina"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009796","Source__c":"GARD:0006556","Xref__c":"MONDO:0009796"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"OAT","GHR_URL__c":"https://medlineplus.gov/genetics/gene/oat","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:414","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001133","HPO_Synonym__c":"Concentric narrowing of visual field; Constricted visual field; Constricted visual fields; Limited peripheral vision; Reduced peripheral vision; Visual field constriction","HPO_Name__c":"Constriction of peripheral visual field","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:414","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:414","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007675","HPO_Synonym__c":"Progressive night blindness","HPO_Name__c":"Progressive night blindness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:414","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the hair.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001595","HPO_Synonym__c":"Abnormality of the hair; Hair abnormality","HPO_Name__c":"Abnormal hair morphology","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:414","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:414","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased concentration of ornithine in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012026","HPO_Synonym__c":"High blood ornithine levels","HPO_Name__c":"Hyperornithinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:414","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Atrophy (wasting) of the choroid and retinal layers of the fundus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000533","HPO_Synonym__c":"Chorioretinal degeneration; Chorioretinal thinning","HPO_Name__c":"Chorioretinal atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:414","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A cataract that affects the region of the lens directly beneath the capsule of the lens.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000523","HPO_Synonym__c":"Subcapsular cataracts; Subcapsular lenticular cataracts; Subcapsular opacities","HPO_Name__c":"Subcapsular cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:414","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:414","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000545","HPO_Synonym__c":"Close sighted; Near sighted; Near sightedness; Nearsightedness","HPO_Name__c":"Myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:414","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction of previously attained ability to see.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000529","HPO_Synonym__c":"Loss of visual acuity; Progressive loss of vision; Progressive vision loss; Progressive visual acuity loss; Progressive visual impairment; Slowly progressive visual loss; Vision loss, progressive; Visual loss, progressive","HPO_Name__c":"Progressive visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:414","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A structural abnormality of the macula, a region that, in a clinical context, is typically used to describe the central part of the retina within the vascular arcades.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001103","HPO_Synonym__c":"Abnormality of the macula; Macula abnormality; Macular abnormality","HPO_Name__c":"Abnormal macular morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:414","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of an amino acid in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003355","HPO_Synonym__c":"High urine amino acid levels; Hyperaminoaciduria; Increased levels of animo acids in urine","HPO_Name__c":"Aminoaciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:414","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000618","HPO_Synonym__c":"Blindness; Total vision loss","HPO_Name__c":"Blindness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:414","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040031","HPO_Name__c":"Chorioretinal hyperpigmentation","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Ophthalmology","Retinal","Vascular Neurology","Anterior segment of Eye","Vascular Medicine","Neuromuscular medicine","Pediatrics"],"Account":["Retinal","Peripheral Neuropathy"]},"synonyms":["gacr"," girate atrophy of the retina"," gyrate atrophy"," gyrate atrophy of choroid and retina"," gyrate atrophy of choroid and retina with or without ornithinemia"," gyrate atrophy of the choroid and/or retina"," gyrate atrophy of the retina"," hoga"," hyperornithinemia"," hyperornithinemia with gyrate atrophy of choroid and retina"," hyperornithinemia-gyrate atrophy of choroid and retina syndrome"," oat deficiency"," okt deficiency"," ornithine ketoacid aminotransferase deficiency"," ornithinemia with gyrate atrophy"]}