{"Name":"Congenital axonal neuropathy with encephalopathy","DiseaseID__c":"GARD:0022218","id":22218,"encodedName":"congenital-axonal-neuropathy-with-encephalopathy","IsDeleted":false,"Disease_Name_Full__c":"Congenital axonal neuropathy with encephalopathy","Xref_IDs__c":"1237626001; C5681314; MEDGEN:1814475; MONDO:0034041; ORPHA:538101","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":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":"MONDO:0034041","Disease_Description__c":"A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia.","GARD_Name__c":"Congenital axonal neuropathy with encephalopathy","GARD_Synonym__c":null,"Curated_Disease_Description_Source__c":"MONDO:0034041","Curated_Disease_Description__c":"A rare, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:538101","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0034041","ORPHANET_ID__c":"ORPHA:538101","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neuropatía axonal congénita con encefalopatía","Spanish_Description_Source__c":"ORPHA:538101","Spanish_Description__c":"Es una neuropatía axonal sensitivo-motora hereditaria autosómica recesiva, congénita y poco frecuente, caracterizada por neuropatía axonal, que se manifiesta al nacimiento o poco después como hipotonía muscular generalizada, marcada debilidad muscular distal, dificultades respiratorias/ de deglución y arreflexia difusa, asociada a afectación del sistema nervioso central, que incluye microcefalia progresiva, crisis epilépticas y retraso psicomotor global. Otras manifestaciones variables asociadas incluyen deficiencia auditiva, lesiones oculares, anomalías esqueléticas (p. ej. pie zambo, dedos de los pies superpuestos, escoliosis, contracturas articulares), criptorquidia y rasgos dismórficos (como facies tosca, hipertelorismo, paladar ojival). Por lo general, el pronóstico es desfavorable debido a insuficiencia respiratoria y/o neumonía por aspiración.","Spanish_Disease_Name__c":"neuropatía axonal congénita con encefalopatía","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, congenital, autosomal recessive axonal hereditary motor and sensory neuropathy disease characterized by axonal neuropathy, manifesting at birth or shortly thereafter with generalized muscular hypotonia, prominently distal muscular weakness, respiratory/swallowing difficulties and diffuse areflexia, associated with central nervous system involvement, which includes progressive microcephaly, seizures, and global developmental delay. Additional variable manifestations include hearing impairment, ocular lesions, skeletal anomalies (e.g. talipes equinovarus, overriding toes, scoliosis, joint contractures), cryptorchidism, and dysmorphic features (such as coarse facies, hypertelorism, high-arched palate). Outcome is typically poor due to respiratory insufficiency and/or aspiration pneumonia.","Curated_Disease_Description_Source__c":"MONDO:0034041","Name":"Congenital axonal neuropathy with encephalopathy","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":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"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":"Neonatal","Provided_By__c":"ORPHA:538101"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/538101","Source__c":"C5681314; MONDO:0034041; ORPHA:538101","Xref__c":"ORPHA:538101"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5681314","Source__c":"C5681314","Xref__c":"C5681314"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1814475","Source__c":"C5681314","Xref__c":"MEDGEN:1814475"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0034041","Source__c":"GARD:0022218","Xref__c":"MONDO:0034041"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1237626001","Source__c":"C5681314","Xref__c":"1237626001"}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":[""]}