{"Name":"Polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive","DiseaseID__c":"GARD:0017976","id":17976,"encodedName":"polyneuropathy-lethal-neonatal-axonal-sensorimotor-autosomal-recessive","IsDeleted":false,"Disease_Name_Full__c":"Polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive","Xref_IDs__c":"C1858353; C565773; MEDGEN:348918; MONDO:0011463; OMIM:604431; ORPHA:538096","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":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":6,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011463","Disease_Description__c":"A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination.","GARD_Name__c":"Polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive","GARD_Synonym__c":"autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy","Curated_Disease_Description_Source__c":"MONDO:0011463","Curated_Disease_Description__c":"A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy","SourceID__c":"ORPHA:538096","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011463","ORPHANET_ID__c":"ORPHA:538096","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Polineuropatía axonal sensitivo-motora neonatal letal autosómica recesiva","Spanish_Description_Source__c":"ORPHA:538096","Spanish_Description__c":"Es una neuropatía axonal sensitivo-motora hereditaria autosómica recesiva, de origen genético y poco frecuente. Está caracterizada por una grave polineuropatía axonal sensitivo-motora (que se manifiesta como una disminución de los movimientos fetales y polihidramnios) de inicio prenatal y que se presenta al nacimiento con insuficiencia respiratoria que requiere ventilación mecánica, grave hipotonía muscular, debilidad muscular distal rápidamente progresiva y ausencia de reflejos osteotendinosos en ausencia de contracturas, ocasionando el fallecimiento antes de los 8 meses de edad. Los hallazgos neuropatológicos muestran una grave pérdida de las fibras mielinizadas de diámetro grande y mediano sin signos de desmielinización.","Spanish_Disease_Name__c":"polineuropatía axonal sensitivo-motora neonatal letal autosómica recesiva","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":"A rare, genetic, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by prenatal onset of a severe sensorimotor axonal polyneuropathy (reflected by reduced fetal movement and polyhydramnios), manifesting, at birth, with respiratory failure requiring mechanical ventilation, profound muscular hypotonia, rapidly progressing distal muscle weakness, and absent deep tendon reflexes, in the absence of contractures, leading to death before 8 months of age. Neuropathological findings show severe loss of large- and medium-sized myelinated fibers without signs of demyelination.","Curated_Disease_Description_Source__c":"MONDO:0011463","GARD_Synonym__c":"autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy","Name":"Polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive","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":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:538096"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/538096","Source__c":"C1858353; MONDO:0011463; ORPHA:538096","Xref__c":"ORPHA:538096"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565773","Source__c":"MONDO:0011463","Xref__c":"C565773"},{"URL__c":"https://www.omim.org/entry/604431","Source__c":"C1858353; MONDO:0011463; ORPHA:538096","Xref__c":"OMIM:604431"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1858353","Source__c":"C1858353","Xref__c":"C1858353"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=348918","Source__c":"C1858353","Xref__c":"MEDGEN:348918"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1222704008","Source__c":"C1858353","Xref__c":"1222704008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011463","Source__c":"GARD:0017976","Xref__c":"MONDO:0011463"}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy"]}