{"Name":"AICA-ribosiduria","DiseaseID__c":"GARD:0013781","id":13781,"encodedName":"aica-ribosiduria","IsDeleted":false,"Disease_Name_Full__c":"AICA-ribosiduria","Xref_IDs__c":"725289009; C1837530; C563876; MEDGEN:332474; MONDO:0012099; OMIM:608688; ORPHA:250977","USA_Estimate__c":"1,000","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":"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":6,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0012099","Disease_Description__c":"A rare and severe inborn metabolic disease characterized clinically by the association of severe-to-profound neurodevelopmental impairment, severe visual impairment, ante-postnatal growth impairment, severe scoliosis and, frequently, early-onset epilepsy.","GARD_Name__c":"AICA-ribosiduria","GARD_Synonym__c":"5-amino-4-imidazole carboxamide ribosiduria; aica (5-amino-4-imidazole carboxamide) ribosiduria; aica-ribosiduria due to atic deficiency; aicar transformylase/imp cyclohydrolase deficiency; atic (5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/imp cyclohydrolase) deficiency; atic deficiency","Curated_Disease_Description_Source__c":"MONDO:0012099","Curated_Disease_Description__c":"A rare and severe inborn metabolic disease characterized clinically by the association of severe-to-profound neurodevelopmental impairment, severe visual impairment, ante-postnatal growth impairment, severe scoliosis and, frequently, early-onset epilepsy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:250977","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012099","ORPHANET_ID__c":"ORPHA:250977","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Aica ribosiduria","Spanish_Description_Source__c":"ORPHA:250977","Spanish_Description__c":"Es una enfermedad metabólica congénita grave y poco frecuente caracterizada clínicamente por un retraso del neurodesarrollo de grave a profundo, disfunción visual grave, retraso del crecimiento pre- y post-natal, escoliosis marcada, y, con frecuencia, epilepsia de inicio temprano.","Spanish_Disease_Name__c":"aica ribosiduria","Spanish_GARD_Synonym__c":"5-amino-4-imidazolcarboxamida ribosiduria; aica ribosiduria por deficiencia de atic; deficiencia de aicar transformilasa/imp ciclohidrolasa; deficiencia de atic","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 and severe inborn metabolic disease characterized clinically by the association of severe-to-profound neurodevelopmental impairment, severe visual impairment, ante-postnatal growth impairment, severe scoliosis and, frequently, early-onset epilepsy.","Curated_Disease_Description_Source__c":"MONDO:0012099","GARD_Synonym__c":"5-amino-4-imidazole carboxamide ribosiduria; aica (5-amino-4-imidazole carboxamide) ribosiduria; aica-ribosiduria due to atic deficiency; aicar transformylase/imp cyclohydrolase deficiency; atic (5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/imp cyclohydrolase) deficiency; atic deficiency","Name":"AICA-ribosiduria","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Metabolic Support UK","Website__c":"https://www.metabolicsupportuk.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":"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":"Infancy","Provided_By__c":"ORPHA:250977"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:250977"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:250977"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1837530","Source__c":"C1837530","Xref__c":"C1837530"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563876","Source__c":"MONDO:0012099","Xref__c":"C563876"},{"URL__c":"https://www.orpha.net/en/disease/detail/250977","Source__c":"C1837530; MONDO:0012099; ORPHA:250977","Xref__c":"ORPHA:250977"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=332474","Source__c":"C1837530","Xref__c":"MEDGEN:332474"},{"URL__c":"https://www.omim.org/entry/608688","Source__c":"C1837530; MONDO:0012099; ORPHA:250977","Xref__c":"OMIM:608688"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=725289009","Source__c":"C1837530; MONDO:0012099","Xref__c":"725289009"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012099","Source__c":"GARD:0013781","Xref__c":"MONDO:0012099"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ATIC","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:250977","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000369","HPO_Synonym__c":"Low set ears; Low-set ears; Low-set pinnae; Lowset ears; Melotia","HPO_Name__c":"Low-set ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:250977","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010864","HPO_Synonym__c":"Early and severe mental retardation; Intellectual disability, severe; Mental retardation, severe; Severe mental retardation","HPO_Name__c":"Severe intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:250977","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000154","HPO_Synonym__c":"Broad mouth; Large mouth; Large oral aperture; Macrostomia; Wide mouth","HPO_Name__c":"Wide mouth","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:250977","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000248","HPO_Synonym__c":"Short and broad skull","HPO_Name__c":"Brachycephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:250977","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hypertrophy of the clitoris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008665","HPO_Synonym__c":"Clitoral enlargement; Clitoromegaly; Enlarged clitoris; Hypertrophic clitoris; Prominent clitoris","HPO_Name__c":"Clitoral hypertrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:250977","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Forward prominence of the entire forehead, due to protrusion of the frontal bone.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011220","HPO_Synonym__c":"Prominence of frontal region; Prominent forehead; Pronounced forehead; Protruding forehead","HPO_Name__c":"Prominent forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:250977","HPO_Frequency__c":"Very frequent (80-99%)","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:250977","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Fusion of the labia minora as a result of labial adhesions resulting in vaginal obstruction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000063","HPO_Synonym__c":"Fused inner lips","HPO_Name__c":"Fused labia minora","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:250977","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Blindness with onset at birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007875","HPO_Synonym__c":"Blindness present at birth; Congenital amaurosis","HPO_Name__c":"Congenital blindness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:250977","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000219","HPO_Synonym__c":"Decreased height of upper lip vermilion; Decreased volume of upper lip; Decreased volume of upper lip vermilion; Thin upper lip; Thin vermilion border of upper lip","HPO_Name__c":"Thin upper lip vermilion","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","Neurodevelopmental disabilities","Pediatrics"],"Account":["Retinal"]},"synonyms":["5-amino-4-imidazole carboxamide ribosiduria"," aica (5-amino-4-imidazole carboxamide) ribosiduria"," aica-ribosiduria due to atic deficiency"," aicar transformylase/imp cyclohydrolase deficiency"," atic (5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/imp cyclohydrolase) deficiency"," atic deficiency"]}