{"Name":"Hereditary motor and sensory neuropathy with optic atrophy","DiseaseID__c":"GARD:0016787","id":16787,"encodedName":"hereditary-motor-and-sensory-neuropathy-with-optic-atrophy","IsDeleted":false,"Disease_Name_Full__c":"Hereditary motor and sensory neuropathy with optic atrophy","Xref_IDs__c":"128203003; C0393807; DOID:0080068; MEDGEN:140747; MONDO:0019551; ORPHA:90120","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":1,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"ORPHA:90120","Disease_Description__c":"A rare axonal hereditary motor and sensory neuropathy disease characterized by progressive, peripheral, axonal sensorimotor neuropathy (of variable severity), affecting predominantly the distal lower limbs, associated with progressive, variably severe, optic atrophy, which frequently leads to visual loss. Patients typically present distal limb muscle weakness and atrophy, hypo/areflexia, foot deformities, poor visual acuity (often with a central scotoma), nystagmus, and reduced peripheral and nocturnal vision. Additional reported manifestations include sensorineural hearing loss, major joint contractures, anosmia, scoliosis/lumbar hyperlordosis, cognitive impairment and vocal cord paresis.","GARD_Name__c":"Hereditary motor and sensory neuropathy with optic atrophy","GARD_Synonym__c":"charcot-marie-tooth disease type 6; charcot-marie-tooth disease, type 6; cmt6; hereditary motor and sensory neuropathy type 6; hereditary motor and sensory neuropathy type vi; hereditary motor and sensory neuropathy vi; hereditary motor-sensory neuropathy with optic atrophy; hereditary motor-sensory neuropathy, type vi; hereditary sensory and motor neuropathy, type vi; hmsn 6; hmsn vi; peripheral neuropathy and optic atrophy","Curated_Disease_Description_Source__c":"ORPHA:90120","Curated_Disease_Description__c":"A rare axonal hereditary motor and sensory neuropathy disease characterized by progressive, peripheral, axonal sensorimotor neuropathy (of variable severity), affecting predominantly the distal lower limbs, associated with progressive, variably severe, optic atrophy, which frequently leads to visual loss. Patients typically present distal limb muscle weakness and atrophy, hypo/areflexia, foot deformities, poor visual acuity (often with a central scotoma), nystagmus, and reduced peripheral and nocturnal vision. Additional reported manifestations include sensorineural hearing loss, major joint contractures, anosmia, scoliosis/lumbar hyperlordosis, cognitive impairment and vocal cord paresis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:90120","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0019551","ORPHANET_ID__c":"ORPHA:90120","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Neuropatía sensitivo-motora hereditaria tipo 6","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"neuropatía sensitivo-motora hereditaria tipo 6","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 axonal hereditary motor and sensory neuropathy disease characterized by progressive, peripheral, axonal sensorimotor neuropathy (of variable severity), affecting predominantly the distal lower limbs, associated with progressive, variably severe, optic atrophy, which frequently leads to visual loss. Patients typically present distal limb muscle weakness and atrophy, hypo/areflexia, foot deformities, poor visual acuity (often with a central scotoma), nystagmus, and reduced peripheral and nocturnal vision. Additional reported manifestations include sensorineural hearing loss, major joint contractures, anosmia, scoliosis/lumbar hyperlordosis, cognitive impairment and vocal cord paresis.","Curated_Disease_Description_Source__c":"ORPHA:90120","GARD_Synonym__c":"charcot-marie-tooth disease type 6; charcot-marie-tooth disease, type 6; cmt6; hereditary motor and sensory neuropathy type 6; hereditary motor and sensory neuropathy type vi; hereditary motor and sensory neuropathy vi; hereditary motor-sensory neuropathy with optic atrophy; hereditary motor-sensory neuropathy, type vi; hereditary sensory and motor neuropathy, type vi; hmsn 6; hmsn vi; peripheral neuropathy and optic atrophy","Name":"Hereditary motor and sensory neuropathy with optic atrophy","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Hereditary Neuropathy Foundation Inc.","Website__c":"https://www.hnf-cure.org/"},{"Account_Name__c":"Charcot-Marie-Tooth Association","Website__c":"https://www.cmtausa.org/"},{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"}],"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":"All ages","Provided_By__c":"ORPHA:90120"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1511","Source__c":"Gene Review","Xref__c":"NBK1511"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0393807","Source__c":"C0393807","Xref__c":"C0393807"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080068","Source__c":"MONDO:0019551","Xref__c":"DOID:0080068"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=140747","Source__c":"C0393807","Xref__c":"MEDGEN:140747"},{"URL__c":"https://www.orpha.net/en/disease/detail/90120","Source__c":"C0393807; MONDO:0019551; ORPHA:90120","Xref__c":"ORPHA:90120"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019551","Source__c":"GARD:0016787","Xref__c":"MONDO:0019551"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=128203003","Source__c":"C0393807","Xref__c":"128203003"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MFN2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mfn2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SLC25A46","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["charcot-marie-tooth disease type 6"," charcot-marie-tooth disease, type 6"," cmt6"," hereditary motor and sensory neuropathy type 6"," hereditary motor and sensory neuropathy type vi"," hereditary motor and sensory neuropathy vi"," hereditary motor-sensory neuropathy with optic atrophy"," hereditary motor-sensory neuropathy, type vi"," hereditary sensory and motor neuropathy, type vi"," hmsn 6"," hmsn vi"," peripheral neuropathy and optic atrophy"]}