{"Name":"Cerebral folate transport deficiency","DiseaseID__c":"GARD:0010594","id":10594,"encodedName":"cerebral-folate-transport-deficiency","IsDeleted":false,"Disease_Name_Full__c":"Cerebral folate transport deficiency","Xref_IDs__c":"711403001; C2751584; C567791; DOID:0050719; MEDGEN:442763; MONDO:0013110; OMIM:613068; ORPHA:217382","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:217382","Disease_Description__c":null,"GARD_Name__c":"Cerebral folate transport deficiency","GARD_Synonym__c":"cerebral folate deficiency; cerebral folate deficiency syndrome; cerebral folate receptor alpha deficiency; folate receptor deficiency; neurodegeneration due to cerebral folate transport deficiency; neurodegenerative syndrome due to cerebral folate transport deficiency","Curated_Disease_Description_Source__c":"OMIM:613068","Curated_Disease_Description__c":"Cerebral folate transport deficiency is a disorder that develops from a shortage (deficiency) of the B-vitamin folate (also called vitamin B9) in the brain. Affected children have normal development during infancy, but around age 2 they begin to lose previously acquired mental and movement abilities (psychomotor regression). They develop intellectual disability, speech difficulties, and recurrent seizures (epilepsy). Movement problems such as tremors and difficulty coordinating movements (ataxia) can be severe, and some affected individuals need wheelchair assistance. Affected individuals have leukodystrophy, which is a loss of a type of brain tissue known as white matter. White matter consists of nerve fibers covered by a fatty substance called myelin that promotes the rapid transmission of nerve impulses. Leukodystrophy contributes to the neurological problems that occur in cerebral folate transport deficiency. Without treatment, these neurological problems worsen over time.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:217382","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013110","ORPHANET_ID__c":"ORPHA:217382","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome neurodegenerativo por deficiencia de transporte cerebral de folatos","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome neurodegenerativo por deficiencia de transporte cerebral de folatos","Spanish_GARD_Synonym__c":"deficiencia cerebral de folato; deficiencia de transporte cerebral de folatos; deficiencia del receptor alfa de folato","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":"Cerebral folate transport deficiency is a disorder that develops from a shortage (deficiency) of the B-vitamin folate (also called vitamin B9) in the brain. Affected children have normal development during infancy, but around age 2 they begin to lose previously acquired mental and movement abilities (psychomotor regression). They develop intellectual disability, speech difficulties, and recurrent seizures (epilepsy). Movement problems such as tremors and difficulty coordinating movements (ataxia) can be severe, and some affected individuals need wheelchair assistance. Affected individuals have leukodystrophy, which is a loss of a type of brain tissue known as white matter. White matter consists of nerve fibers covered by a fatty substance called myelin that promotes the rapid transmission of nerve impulses. Leukodystrophy contributes to the neurological problems that occur in cerebral folate transport deficiency. Without treatment, these neurological problems worsen over time.","Curated_Disease_Description_Source__c":"OMIM:613068","GARD_Synonym__c":"cerebral folate deficiency; cerebral folate deficiency syndrome; cerebral folate receptor alpha deficiency; folate receptor deficiency; neurodegeneration due to cerebral folate transport deficiency; neurodegenerative syndrome due to cerebral folate transport deficiency","Name":"Cerebral folate transport deficiency","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"},{"Account_Name__c":"Pediatric Neurotransmitter Disease Association","Website__c":"https://www.pndassoc.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":"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":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:217382"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010594","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK599286","Source__c":"Gene Review","Xref__c":"NBK599286"},{"URL__c":"https://www.orpha.net/en/disease/detail/217382","Source__c":"C2751584; MONDO:0013110; ORPHA:217382","Xref__c":"ORPHA:217382"},{"URL__c":"https://www.omim.org/entry/613068","Source__c":"C2751584; MONDO:0013110; ORPHA:217382","Xref__c":"OMIM:613068"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2751584","Source__c":"C2751584","Xref__c":"C2751584"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567791","Source__c":"MONDO:0013110","Xref__c":"C567791"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=711403001","Source__c":"C2751584; MONDO:0013110","Xref__c":"711403001"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050719","Source__c":"MONDO:0013110","Xref__c":"DOID:0050719"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=442763","Source__c":"C2751584","Xref__c":"MEDGEN:442763"},{"URL__c":"https://medlineplus.gov/genetics/condition/cerebral-folate-transport-deficiency","Source__c":"GARD:0010594","Xref__c":"https://medlineplus.gov/genetics/condition/cerebral-folate-transport-deficiency"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013110","Source__c":"GARD:0010594","Xref__c":"MONDO:0013110"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FOLR1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/folr1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:613068","Feature__r":{"HPO_Description__c":"Loss of developmental skills, as manifested by loss of developmental milestones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002376","HPO_Synonym__c":"Loss of acquired milestones; Loss of developmental milestones; Loss of milestones; Mental deterioration in childhood; Neurodevelopmental regression; Psychomotor regression; Psychomotor regression beginning in infancy; Psychomotor regression in infants; Psychomotor regression, progressive","HPO_Name__c":"Developmental regression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613068","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":"OMIM:613068","Feature__r":{"HPO_Description__c":"Progressive loss of neural cells and tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002180","HPO_Synonym__c":"Ongoing loss of nerve cells","HPO_Name__c":"Neurodegeneration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613068","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Epilepsy","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["cerebral folate deficiency"," cerebral folate deficiency syndrome"," cerebral folate receptor alpha deficiency"," folate receptor deficiency"," neurodegeneration due to cerebral folate transport deficiency"," neurodegenerative syndrome due to cerebral folate transport deficiency"]}