{"Name":"Charcot-Marie-Tooth disease axonal type 2V","DiseaseID__c":"GARD:0017777","id":17777,"encodedName":"charcot-marie-tooth-disease-axonal-type-2v","IsDeleted":false,"Disease_Name_Full__c":"Charcot-Marie-Tooth disease axonal type 2V","Xref_IDs__c":"C5569050; DOID:0110178; MEDGEN:1800473; MONDO:0014665; OMIM:616491; ORPHA:447964","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":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0014665","Disease_Description__c":"Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene.","GARD_Name__c":"Charcot-Marie-Tooth disease axonal type 2V","GARD_Synonym__c":"autosomal dominant axonal charcot-marie-tooth disease type 2v; autosomal dominant charcot-marie-tooth disease type 2 due to naglu (n-acetyl-alpha-glucosaminidase) mutation; autosomal dominant charcot-marie-tooth disease type 2 due to naglu mutation; autosomal dominant charcot-marie-tooth disease type 2v; charcot-marie-tooth disease caused by mutation in naglu; charcot-marie-tooth disease, axonal, autosomal dominant, type 2v; charcot-marie-tooth neuropathy type 2v; charcot-marie-tooth neuropathy, type 2v; cmt2v; hereditary adult onset painful axonal polyneuropathy; hereditary adult-onset painful axonal polyneuropathy; naglu charcot-marie-tooth disease","Curated_Disease_Description_Source__c":"ORPHA:447964","Curated_Disease_Description__c":"A rare, axonal hereditary motor and sensory neuropathy characterized by adult onset of recurrent pain in legs with or without cramps, progressive loss of deep tendon reflexes and vibration sense, paresthesias in the feet and later in the hands. Patients often experience sleep disturbances and mild sensory ataxia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:447964","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014665","ORPHANET_ID__c":"ORPHA:447964","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth autosómica dominante tipo 2v","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth autosómica dominante tipo 2v","Spanish_GARD_Synonym__c":"enfermedad de charcot-marie-tooth autosómica dominante tipo 2 por una mutación en el gen naglu; polineuropatía axonal dolorosa hereditaria de inicio en el adulto; polineuropatía axonal hereditaria dolorosa de inicio en el adulto","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 adult onset of recurrent pain in legs with or without cramps, progressive loss of deep tendon reflexes and vibration sense, paresthesias in the feet and later in the hands. Patients often experience sleep disturbances and mild sensory ataxia.","Curated_Disease_Description_Source__c":"ORPHA:447964","GARD_Synonym__c":"autosomal dominant axonal charcot-marie-tooth disease type 2v; autosomal dominant charcot-marie-tooth disease type 2 due to naglu (n-acetyl-alpha-glucosaminidase) mutation; autosomal dominant charcot-marie-tooth disease type 2 due to naglu mutation; autosomal dominant charcot-marie-tooth disease type 2v; charcot-marie-tooth disease caused by mutation in naglu; charcot-marie-tooth disease, axonal, autosomal dominant, type 2v; charcot-marie-tooth neuropathy type 2v; charcot-marie-tooth neuropathy, type 2v; cmt2v; hereditary adult onset painful axonal polyneuropathy; hereditary adult-onset painful axonal polyneuropathy; naglu charcot-marie-tooth disease","Name":"Charcot-Marie-Tooth disease axonal type 2V","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"CMT Research Foundation","Website__c":"https://cmtrf.org/"},{"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":"Adolescent","Provided_By__c":"ORPHA:447964"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:447964"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:447964"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110178","Source__c":"MONDO:0014665","Xref__c":"DOID:0110178"},{"URL__c":"https://www.orpha.net/en/disease/detail/447964","Source__c":"C5569050; MONDO:0014665; ORPHA:447964","Xref__c":"ORPHA:447964"},{"URL__c":"https://www.omim.org/entry/616491","Source__c":"C5569050; MONDO:0014665; ORPHA:447964","Xref__c":"OMIM:616491"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5569050","Source__c":"C5569050","Xref__c":"C5569050"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1800473","Source__c":"C5569050","Xref__c":"MEDGEN:1800473"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014665","Source__c":"GARD:0017777","Xref__c":"MONDO:0014665"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1187618009","Source__c":"C5569050","Xref__c":"1187618009"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NAGLU","GHR_URL__c":"https://medlineplus.gov/genetics/gene/naglu","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:616491","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Incoordination of movement caused by a deficit in the sensory nervous system. Sensory ataxia can be distinguished from cerebellar ataxia by asking the patient to close his or her eyes. Persons with cerebellar ataxia show only a minimal worsening of symptoms, whereas persons with sensory ataxia show a marked worsening of symptoms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010871","HPO_Synonym__c":"Afferent ataxia; Ataxia, sensory; Spinal ataxia","HPO_Name__c":"Sensory ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616491","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012514","HPO_Synonym__c":"Leg pain; Lower limb pain","HPO_Name__c":"Lower limb pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616491","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal pattern in the quality, quantity, or characteristics of sleep.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002360","HPO_Synonym__c":"Difficulty sleeping; Sleep abnormality; Sleep disturbances; Sleep dysfunction; Sleep-wake disturbance; Trouble sleeping","HPO_Name__c":"Sleep disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616491","Feature__r":{"HPO_Description__c":"An abnormal reduction in sensation in the distal portions of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002936","HPO_Synonym__c":"Decreased distal sensation; Decreased sensation in extremities; Distal sensation loss; Distal sensory impairment in lower limbs; Distal sensory impairment of the lower extremities; Distal sensory loss; Distal sensory loss, upper and lower limbs; Loss of distal sensation","HPO_Name__c":"Distal sensory impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616491","Feature__r":{"HPO_Description__c":"Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009830","HPO_Synonym__c":"Peripheral nerve damage; Peripheral neuritis","HPO_Name__c":"Peripheral neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616491","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002495","HPO_Synonym__c":"Decreased vibration sense; Decreased vibratory sense; Diminished vibratory sense; Hypopallesthesia; Impaired vibratory sensation; Impaired vibratory sense","HPO_Name__c":"Impaired vibratory sensation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616491","Feature__r":{"HPO_Description__c":"Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003401","HPO_Synonym__c":"Paresthesias; Pins and needles feeling; Tingling","HPO_Name__c":"Paresthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616491","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduction of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001265","HPO_Synonym__c":"Decreased reflex response; Decreased reflexes","HPO_Name__c":"Hyporeflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["autosomal dominant axonal charcot-marie-tooth disease type 2v"," autosomal dominant charcot-marie-tooth disease type 2 due to naglu (n-acetyl-alpha-glucosaminidase) mutation"," autosomal dominant charcot-marie-tooth disease type 2 due to naglu mutation"," autosomal dominant charcot-marie-tooth disease type 2v"," charcot-marie-tooth disease caused by mutation in naglu"," charcot-marie-tooth disease, axonal, autosomal dominant, type 2v"," charcot-marie-tooth neuropathy type 2v"," charcot-marie-tooth neuropathy, type 2v"," cmt2v"," hereditary adult onset painful axonal polyneuropathy"," hereditary adult-onset painful axonal polyneuropathy"," naglu charcot-marie-tooth disease"]}