{"Name":"Prenatal-onset spinal muscular atrophy with congenital bone fractures","DiseaseID__c":"GARD:0017882","id":17882,"encodedName":"prenatal-onset-spinal-muscular-atrophy-with-congenital-bone-fractures","IsDeleted":false,"Disease_Name_Full__c":"Prenatal-onset spinal muscular atrophy with congenital bone fractures","Xref_IDs__c":"1172689007; C5567518; MEDGEN:1798941; MONDO:0000209; OMIMPS:616866; ORPHA:486811","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:486811","Disease_Description__c":"A rare genetic motor neuron disease characterized by decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita), and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fiber-size variation and grouping of larger type I fibers. The disease is usually fatal in infancy due to respiratory failure.","GARD_Name__c":"Prenatal-onset spinal muscular atrophy with congenital bone fractures","GARD_Synonym__c":"smabf; spinal muscular atrophy with congenital bone fractures","Curated_Disease_Description_Source__c":"ORPHA:486811","Curated_Disease_Description__c":"A rare genetic motor neuron disease characterized by decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita), and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fiber-size variation and grouping of larger type I fibers. The disease is usually fatal in infancy due to respiratory failure.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy","SourceID__c":"ORPHA:486811","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0000209","ORPHANET_ID__c":"ORPHA:486811","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Atrofia muscular espinal de inicio prenatal con fracturas óseas congénitas","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"atrofia muscular espinal de inicio prenatal con fracturas óseas congénitas","Spanish_GARD_Synonym__c":"smabf","Category_Linearization__c":"ORPHA:93890","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 genetic motor neuron disease characterized by decreased or absent fetal movements, congenital proximal and distal joint contractures (consistent with arthrogryposis multiplex congenita), and multiple congenital fractures of the long bones. Further manifestations are neonatal respiratory distress, severe muscular hypotonia, areflexia, dysphagia, congenital heart defects, and dysmorphic facial features. Muscle biopsy shows increased fiber-size variation and grouping of larger type I fibers. The disease is usually fatal in infancy due to respiratory failure.","Curated_Disease_Description_Source__c":"ORPHA:486811","GARD_Synonym__c":"smabf; spinal muscular atrophy with congenital bone fractures","Name":"Prenatal-onset spinal muscular atrophy with congenital bone fractures","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"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":"Antenatal","Provided_By__c":"ORPHA:486811"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5567518","Source__c":"C5567518","Xref__c":"C5567518"},{"URL__c":"https://www.orpha.net/en/disease/detail/486811","Source__c":"C5567518; MONDO:0000209; ORPHA:486811","Xref__c":"ORPHA:486811"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS616866","Source__c":"MONDO:0000209","Xref__c":"OMIMPS:616866"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1798941","Source__c":"C5567518","Xref__c":"MEDGEN:1798941"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0000209","Source__c":"GARD:0017882","Xref__c":"MONDO:0000209"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1172689007","Source__c":"C5567518","Xref__c":"1172689007"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TRIP4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ASCC1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Orthopedics","Neuromuscular medicine","Pediatrics"],"Account":["Congenital limb malformation"]},"synonyms":["smabf"," spinal muscular atrophy with congenital bone fractures"]}