{"Name":"Glutamate formiminotransferase deficiency","DiseaseID__c":"GARD:0009279","id":9279,"encodedName":"glutamate-formiminotransferase-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Glutamate formiminotransferase deficiency","Xref_IDs__c":"59761008; C0268609; C537425; DOID:0111679; MEDGEN:82823; MONDO:0009240; OMIM:229100; ORPHA:51208","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009240","Disease_Description__c":"A rare disorder of folate metabolism and transport characterized, biochemically, by elevated formiminoglutamate in urine and plasma due to glutamate formiminotransferase deficiency, associated with a highly variable clinical phenotype, ranging from developmental delay, intellectual disability and anemia to normal development without anemia. Increased hydantoin-5-propionic acid and/or folate in plasma may also be associated.","GARD_Name__c":"Glutamate formiminotransferase deficiency","GARD_Synonym__c":"arakawa syndrome 1; deficiency of glutamate formiminotransferase; deficiency of glutamate formyltransferase; figluria; formiminoglutamic aciduria; formiminotransferase cyclodeaminase deficiency; formiminotransferase deficiency; ftcd deficiency","Curated_Disease_Description_Source__c":"GARD:0009279","Curated_Disease_Description__c":"Glutamate formiminotransferase deficiency is a rare inherited disorder that can affect development. In the past, researchers recognized a mild form and a severe form of glutamate formiminotransferase deficiency. Researchers have since found people who received a diagnosis of glutamate formiminotransferase deficiency as infants who do not appear to have any related health problems. Researchers are actively working to learn more about this condition.   The signs and symptoms associated with glutamate formiminotransferase deficiency have ranged from mild developmental delays with high urine levels of a molecule called formiminoglutamate (FIGLU) to more severe intellectual disabilities and megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number of red blood cells (anemia) and the remaining red blood cells are larger than normal (megaloblastic).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:51208","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009240","ORPHANET_ID__c":"ORPHA:51208","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Aciduria formiminoglutámica","Spanish_Description_Source__c":"ORPHA:51208","Spanish_Description__c":"Es un trastorno poco frecuente del metabolismo y del transporte del folato caracterizado bioquímicamente por niveles elevados de formiminoglutamato en orina y en plasma debido a una deficiencia de la glutamato formimino-transferasa. Está asociado a un fenotipo clínico altamente variable, que va desde un retraso del desarrollo, discapacidad intelectual y anemia hasta un desarrollo normal sin anemia. El trastorno también puede asociar un aumento plasmático de ácido 5-hidantoína propiónico y/o folato.","Spanish_Disease_Name__c":"aciduria formiminoglutámica","Spanish_GARD_Synonym__c":"deficiencia de formiminotransferasa ciclodeaminasa; deficiencia de ftcd; deficiencia de glutamato formiminotransferasa","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":"Glutamate formiminotransferase deficiency is a rare inherited disorder that can affect development. In the past, researchers recognized a mild form and a severe form of glutamate formiminotransferase deficiency. Researchers have since found people who received a diagnosis of glutamate formiminotransferase deficiency as infants who do not appear to have any related health problems. Researchers are actively working to learn more about this condition.   The signs and symptoms associated with glutamate formiminotransferase deficiency have ranged from mild developmental delays with high urine levels of a molecule called formiminoglutamate (FIGLU) to more severe intellectual disabilities and megaloblastic anemia. Megaloblastic anemia occurs when a person has a low number of red blood cells (anemia) and the remaining red blood cells are larger than normal (megaloblastic).","Curated_Disease_Description_Source__c":"GARD:0009279","GARD_Synonym__c":"arakawa syndrome 1; deficiency of glutamate formiminotransferase; deficiency of glutamate formyltransferase; figluria; formiminoglutamic aciduria; formiminotransferase cyclodeaminase deficiency; formiminotransferase deficiency; ftcd deficiency","Name":"Glutamate formiminotransferase deficiency","estimateUsa":""}],"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":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood diseases"},{"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:51208"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Other","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/FIGLU"},{"Type__c":"GTR","Curie__c":"MEDGEN:C0268609"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009279","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=59761008","Source__c":"C0268609; MONDO:0009240","Xref__c":"59761008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537425","Source__c":"MONDO:0009240","Xref__c":"C537425"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111679","Source__c":"MONDO:0009240","Xref__c":"DOID:0111679"},{"URL__c":"https://www.orpha.net/en/disease/detail/51208","Source__c":"C0268609; MONDO:0009240; ORPHA:51208","Xref__c":"ORPHA:51208"},{"URL__c":"https://www.omim.org/entry/229100","Source__c":"C0268609; MONDO:0009240; ORPHA:51208","Xref__c":"OMIM:229100"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=82823","Source__c":"C0268609","Xref__c":"MEDGEN:82823"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0268609","Source__c":"C0268609","Xref__c":"C0268609"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009240","Source__c":"GARD:0009279","Xref__c":"MONDO:0009240"},{"URL__c":"https://medlineplus.gov/genetics/condition/glutamate-formiminotransferase-deficiency","Source__c":"GARD:0009279","Xref__c":"https://medlineplus.gov/genetics/condition/glutamate-formiminotransferase-deficiency"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FTCD","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ftcd","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:51208","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A mild delay in the achievement of motor or mental milestones in the domains of development of a child.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011342","HPO_Synonym__c":"Global developmental delay, mild","HPO_Name__c":"Mild global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51208","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal amount of acylcarnitine in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0500170","HPO_Name__c":"Abnormal concentration of acylcarnitine in the urine","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:51208","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012758","HPO_Synonym__c":"NDD","HPO_Name__c":"Neurodevelopmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51208","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of a histidine metabolic process.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010904","HPO_Synonym__c":"Abnormality of histidine metabolism","HPO_Name__c":"Abnormal circulating histidine concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:51208","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A degree of language development that is significantly below the norm for a child of a specified age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000750","HPO_Synonym__c":"Deficiency of speech development; Delayed language development; Delayed speech; Delayed speech acquisition; Delayed speech and language development; Delayed speech development; Impaired speech and language development; Impaired speech development; Language delay; Language delayed; Language development deficit; Late-onset speech development; Poor language development; Speech and language delay; Speech and language difficulties; Speech delay","HPO_Name__c":"Delayed speech and language development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51208","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the metabolism of folic acid, which is also known as vitamin B9.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012335","HPO_Name__c":"Abnormality of folate metabolism","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:51208","HPO_Frequency__c":"Occasional (5-29%)","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:51208","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001631","HPO_Synonym__c":"An opening in the wall separating the top two chambers of the heart; ASD; Atria septal defect; Atrial septum defect; Atrioseptal defect; Defect in the atrial septum; Hole in heart wall separating two upper heart chambers","HPO_Name__c":"Atrial septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51208","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000717","HPO_Synonym__c":"Autism","HPO_Name__c":"Autism","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51208","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elevated circulating concentration of folic acid, which is also known as vitamin B9.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032164","HPO_Name__c":"Increased blood folate concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:51208","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Anemia characterized by the presence of erythroblasts that are larger than normal (megaloblasts).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001889","HPO_Name__c":"Megaloblastic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:51208","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012379","HPO_Name__c":"Abnormal circulating enzyme concentration or activity","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:51208","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Hematology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Hematology","Pediatrics"]},"synonyms":["arakawa syndrome 1"," deficiency of glutamate formiminotransferase"," deficiency of glutamate formyltransferase"," figluria"," formiminoglutamic aciduria"," formiminotransferase cyclodeaminase deficiency"," formiminotransferase deficiency"," ftcd deficiency"]}