{"Name":"Charcot-Marie-Tooth disease type 2B5","DiseaseID__c":"GARD:0017153","id":17153,"encodedName":"charcot-marie-tooth-disease-type-2b5","IsDeleted":false,"Disease_Name_Full__c":"Charcot-Marie-Tooth disease type 2B5","Xref_IDs__c":"771307003; C4749824; MEDGEN:1668955; MONDO:0016454; ORPHA:228374","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":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016454","Disease_Description__c":"A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.","GARD_Name__c":"Charcot-Marie-Tooth disease type 2B5","GARD_Synonym__c":"ar-cmt2b5; autosomal recessive charcot-marie-tooth disease type 2b5; seoan due to nefl deficiency; severe early-onset axonal neuropathy due to light neurofilament subunit deficiency; severe early-onset axonal neuropathy due to nefl (neurofilament light) deficiency; severe early-onset axonal neuropathy due to nefl deficiency","Curated_Disease_Description_Source__c":"MONDO:0016454","Curated_Disease_Description__c":"A rare axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:228374","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0016454","ORPHANET_ID__c":"ORPHA:228374","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth tipo 2b5","Spanish_Description_Source__c":"ORPHA:228374","Spanish_Description__c":"Es una neuropatía sensitivo-motora axonal, hereditaria y poco frecuente, caracterizada por el inicio en la lactancia, de debilidad y atrofia motora distal lentamente progresiva (más grave en piernas y moderada en brazos) acompañada de leve retraso del desarrollo motor, hipotonía y deterioro sensitivo distal de todas las modalidades sensoriales.","Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth tipo 2b5","Spanish_GARD_Synonym__c":"cmt2b5-ar; enfermedad de charcot-marie-tooth autosómica recesiva tipo 2b5; neuropatía axonal grave de inicio precoz por deficiencia de nefl; neuropatía axonal grave de inicio precoz por deficiencia de subunidad ligera de neurofilamentos; seoan por deficiencia de nefl","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 axonal hereditary motor and sensory neuropathy characterized by infantile onset of slowly progressive distal motor weakness and atrophy (more severe in legs and moderate in arms) with mildly delayed motor development, hypotonia, and distal sensory impairment of all sensory modalities.","Curated_Disease_Description_Source__c":"MONDO:0016454","GARD_Synonym__c":"ar-cmt2b5; autosomal recessive charcot-marie-tooth disease type 2b5; seoan due to nefl deficiency; severe early-onset axonal neuropathy due to light neurofilament subunit deficiency; severe early-onset axonal neuropathy due to nefl (neurofilament light) deficiency; severe early-onset axonal neuropathy due to nefl deficiency","Name":"Charcot-Marie-Tooth disease type 2B5","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"}],"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":"Childhood","Provided_By__c":"ORPHA:228374"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:228374"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1668955","Source__c":"C4749824","Xref__c":"MEDGEN:1668955"},{"URL__c":"https://www.orpha.net/en/disease/detail/228374","Source__c":"C4749824; MONDO:0016454; ORPHA:228374","Xref__c":"ORPHA:228374"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749824","Source__c":"C4749824","Xref__c":"C4749824"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016454","Source__c":"GARD:0017153","Xref__c":"MONDO:0016454"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=771307003","Source__c":"C4749824","Xref__c":"771307003"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NEFL","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["ar-cmt2b5"," autosomal recessive charcot-marie-tooth disease type 2b5"," seoan due to nefl deficiency"," severe early-onset axonal neuropathy due to light neurofilament subunit deficiency"," severe early-onset axonal neuropathy due to nefl (neurofilament light) deficiency"," severe early-onset axonal neuropathy due to nefl deficiency"]}