{"Name":"FRAXF syndrome","DiseaseID__c":"GARD:0019769","id":19769,"encodedName":"fraxf-syndrome","IsDeleted":false,"Disease_Name_Full__c":"FRAXF syndrome","Xref_IDs__c":"716708005; C4274329; MEDGEN:897295; MONDO:0015084; ORPHA:100974","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":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0015084","Disease_Description__c":"FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. Since this initial description, FRAXF has been associated with a range of manifestations but no clear phenotype has been established.","GARD_Name__c":"FRAXF syndrome","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"ORPHA:100974","Curated_Disease_Description__c":"FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. FRAXF has been associated with a range of manifestations but no clear phenotype has been established.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:100974","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0015084","ORPHANET_ID__c":"ORPHA:100974","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome fraxf","Spanish_Description_Source__c":"ORPHA:100974","Spanish_Description__c":"Originariamente, el síndrome FRAXF fue identificado en una familia con retraso en el desarrollo, y repetición CCG ampliada, en el sitio frágil FRAXF sensible al folato. Desde su descripción inicial, este síndrome se ha asociado a un grupo de manifestaciones sin que ningún fenotipo se haya establecido de forma clara.","Spanish_Disease_Name__c":"síndrome fraxf","Spanish_GARD_Synonym__c":null,"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":"FRAXF syndrome was originally identified in a family with developmental delay and an expanded CCG repeat at the folate-sensitive FRAXF fragile site. FRAXF has been associated with a range of manifestations but no clear phenotype has been established.","Curated_Disease_Description_Source__c":"ORPHA:100974","Name":"FRAXF syndrome","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":"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":"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":"Neonatal","Provided_By__c":"ORPHA:100974"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:100974"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:100974"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=897295","Source__c":"C4274329","Xref__c":"MEDGEN:897295"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716708005","Source__c":"C4274329; MONDO:0015084","Xref__c":"716708005"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4274329","Source__c":"C4274329","Xref__c":"C4274329"},{"URL__c":"https://www.orpha.net/en/disease/detail/100974","Source__c":"C4274329; MONDO:0015084; ORPHA:100974","Xref__c":"ORPHA:100974"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0015084","Source__c":"GARD:0019769","Xref__c":"MONDO:0015084"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TMEM185A","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:100974","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of a folate sensitive fragile site at chromosome Xq28.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003564","HPO_Name__c":"Folate-dependent fragile site at Xq28","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:100974","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":[""]}