{"Name":"Charcot-Marie-Tooth disease type 2E","DiseaseID__c":"GARD:0009193","id":9193,"encodedName":"charcot-marie-tooth-disease-type-2e","IsDeleted":false,"Disease_Name_Full__c":"Charcot-Marie-Tooth disease type 2E","Xref_IDs__c":"717012004; C134953; C1843225; C537994; DOID:0110165; MEDGEN:375127; MONDO:0011894; OMIM:607684; ORPHA:99939","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":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":4,"Description_Source__c":"MONDO:0011894","Disease_Description__c":"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.","GARD_Name__c":"Charcot-Marie-Tooth disease type 2E","GARD_Synonym__c":"autosomal dominant charcot-marie-tooth disease type 2e; charcot-marie-tooth disease type 2 caused by mutation in nefl; charcot-marie-tooth disease, axonal, type 2e; charcot-marie-tooth disease, type 2e; charcot-marie-tooth neuropathy type 2e; charcot-marie-tooth neuropathy, type 2e; cmt2e; nefl charcot-marie-tooth disease type 2","Curated_Disease_Description_Source__c":"MONDO:0011894","Curated_Disease_Description__c":"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:99939","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011894","ORPHANET_ID__c":"ORPHA:99939","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth autosómica dominante tipo 2e","Spanish_Description_Source__c":"ORPHA:99939","Spanish_Description__c":"Es una forma de la enfermedad de Charcot-Marie-Tooth axonal, una neuropatía periférica sensitivo-motora de inicio entre la primera y la 6ª década de vida, con anomalías en la marcha y debilidad de las extremidades inferiores, afectando a las extremidades superiores de manera secundaria. Los reflejos tendinosos están reducidos o ausentes y, al cabo de los años, todos los pacientes presentan pie cavo. Puede haber otros signos presentes, incluyendo pérdida de audición y temblores posturales.","Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth autosómica dominante tipo 2e","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 form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, with onset in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.","Curated_Disease_Description_Source__c":"MONDO:0011894","GARD_Synonym__c":"autosomal dominant charcot-marie-tooth disease type 2e; charcot-marie-tooth disease type 2 caused by mutation in nefl; charcot-marie-tooth disease, axonal, type 2e; charcot-marie-tooth disease, type 2e; charcot-marie-tooth neuropathy type 2e; charcot-marie-tooth neuropathy, type 2e; cmt2e; nefl charcot-marie-tooth disease type 2","Name":"Charcot-Marie-Tooth disease type 2E","estimateUsa":""}],"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/"},{"Account_Name__c":"Charcot-Marie-Tooth Association","Website__c":"https://www.cmtausa.org/"},{"Account_Name__c":"Hereditary Neuropathy Foundation Inc.","Website__c":"https://www.hnf-cure.org/"},{"Account_Name__c":"Charcot-Marie-Tooth UK","Website__c":"https://www.cmt.org.uk/"},{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.org"},{"Account_Name__c":"Muscular Dystrophy UK","Website__c":"https://www.musculardystrophyuk.org/"},{"Account_Name__c":"Charcot-Marie-Tooth Association Australia Inc.","Website__c":"https://www.cmt.org.au"}],"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:99939"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:99939"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:99939"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:99939"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537994","Source__c":"MONDO:0011894","Xref__c":"C537994"},{"URL__c":"https://www.orpha.net/en/disease/detail/99939","Source__c":"C1843225; MONDO:0011894; ORPHA:99939","Xref__c":"ORPHA:99939"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110165","Source__c":"MONDO:0011894","Xref__c":"DOID:0110165"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1843225","Source__c":"C1843225","Xref__c":"C1843225"},{"URL__c":"https://www.omim.org/entry/607684","Source__c":"C1843225; MONDO:0011894; ORPHA:99939","Xref__c":"OMIM:607684"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=375127","Source__c":"C1843225","Xref__c":"MEDGEN:375127"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717012004","Source__c":"C1843225; MONDO:0011894","Xref__c":"717012004"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C134953","Source__c":"C1843225; MONDO:0011894","Xref__c":"C134953"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011894","Source__c":"GARD:0009193","Xref__c":"MONDO:0011894"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"NEFL","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:99939","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Muscular atrophy affecting muscles in the distal portions of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003693","HPO_Synonym__c":"Amyotrophy of distal limb muscles; Distal amyotrophy, especially of the hands and feet; Distal limb muscle atrophy; Distal muscle atrophy; Distal muscle atrophy, upper and lower limbs; Distal muscle degeneration; Distal muscle wasting; Distal muscular atrophy; Muscle atrophy, distal","HPO_Name__c":"Distal amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99939","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles of the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007340","HPO_Synonym__c":"Leg weakness; Lower extremity weakness; Lower limb muscle weakness; Lower limb weakness; Muscle weakness in lower limbs","HPO_Name__c":"Lower limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99939","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of Developmental delay characterized by a delay in acquiring motor skills.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001270","HPO_Synonym__c":"Delay in development of motor milestones; Delay in motor development; Delayed development of motor milestones; Delayed early motor milestones; Delayed motor development; Delayed motor milestones; Locomotor delay; Motor developmental delay; Motor developmental milestones not achieved; Motor retardation; Retarded motor development; Slow development of motor milestones","HPO_Name__c":"Motor delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99939","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200101","HPO_Synonym__c":"Decreased/absent ankle reflexes","HPO_Name__c":"Decreased/absent ankle reflexes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99939","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Incapability to ambulate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002540","HPO_Synonym__c":"Inability to walk; Non-ambulatory","HPO_Name__c":"Inability to walk","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99939","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Demyelination of peripheral motor nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007220","HPO_Name__c":"Demyelinating motor neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99939","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of the musculature of the distal extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002460","HPO_Synonym__c":"Distal limb muscle weakness; Distal limb weakness; Distal muscular weakness; Distal paresis; Muscle weakness, distal; Muscle weakness, distal limbs, due to neuronopathy; Weakness of distal muscles; Weakness of outermost muscles","HPO_Name__c":"Distal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99939","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the primary sensation that is mediated by peripheral nerves (pain, temperature, touch, vibration, joint position). The word hypoesthesia (or hypesthesia) refers to a reduction in cutaneous sensation to a specific type of testing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003474","HPO_Synonym__c":"Sensory impairment","HPO_Name__c":"Somatic sensory dysfunction","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99939","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Demyelination of peripheral sensory nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011402","HPO_Name__c":"Demyelinating sensory neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99939","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A reduction in the speed at which electrical signals propagate along the axon of a neuron.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000762","HPO_Synonym__c":"Decreased NCV; Decreased nerve conduction velocities; Delayed nerve conduction velocity; Reduced nerve conduction velocities; Slow nerve conduction velocity; Slowed nerve conduction velocities","HPO_Name__c":"Decreased nerve conduction velocity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}},{"Provided_By__c":"ORPHA:99939","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality characterized by disruption of the normal functioning of peripheral axons.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003477","HPO_Synonym__c":"Axonal neuropathy; Axonal peripheral neuropathy","HPO_Name__c":"Peripheral axonal neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99939","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles of the arms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003484","HPO_Synonym__c":"Decreased arm strength; Weak arm","HPO_Name__c":"Upper limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99939","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An anomaly identified by motor evoked potentials (MEPs). MEPs are measured following single-pulse or repetitive transcranial magnetic stimulation and can be used for the assessment of the excitability of the motor cortex and the integrity of conduction along the central and peripheral motor pathways.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012896","HPO_Name__c":"Abnormal motor evoked potentials","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99939","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003458","HPO_Synonym__c":"EMG: myopathic changes; EMG: myopathy; Myopathic electromyogram","HPO_Name__c":"EMG: myopathic abnormalities","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"ORPHA:99939","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Talipes calcaneovalgus is a flexible foot deformity (as opposed to a rigid congenital vertical talus foot deformity) that can either present as a positional or structural foot deformity depending on severity and/or causality. The axis of calcaneovalgus deformity is in the tibiotalar joint, where the foot is positioned in extreme hyperextension. On inspection, the foot has an \\\"up and out\\\" appearance, with the dorsal forefoot practically touching the anterior aspect of the ankle and lower leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001884","HPO_Synonym__c":"Pes calcaneovarus","HPO_Name__c":"Talipes calcaneovalgus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99939","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the skeleton of foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001760","HPO_Synonym__c":"Abnormal feet structure; Abnormality of the feet; Abnormality of the foot; Foot deformities; Foot deformity","HPO_Name__c":"Abnormal foot morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99939","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007141","HPO_Synonym__c":"Mixed polyneuropathy; Nerve damage causing decreased feeling and movement; Sensorimotor peripheral neuropathy","HPO_Name__c":"Sensorimotor neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99939","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced ability to run.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009046","HPO_Synonym__c":"Difficulty running","HPO_Name__c":"Difficulty running","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99939","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased creatine kinase level more than 50X above the upper normal level.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030235","HPO_Synonym__c":"Extremely elevated CPK; Extremely elevated creatine phosphokinase; Extremely elevated phospho-CK serum level; Extremely elevated serum CK level; Extremely high CPK level","HPO_Name__c":"Extremely elevated creatine kinase","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:99939","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A lack of strength of the proximal muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003701","HPO_Synonym__c":"Muscle weakness, proximal; Proximal limb muscle weakness; Proximal limb weakness; Weakness in muscles of upper arms and upper legs","HPO_Name__c":"Proximal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99939","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99939","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"}},{"Provided_By__c":"ORPHA:99939","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal gait pattern that arises from weakness of the pretibial and peroneal muscles due to a lower motor neuron lesion. Affected patients have footdrop and are unable to dorsiflex and evert the foot. The leg is lifted high on walking so that the toes clear the ground, and there may be a slapping noise when the foot strikes the ground again.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003376","HPO_Synonym__c":"High stepping","HPO_Name__c":"Steppage gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99939","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001761","HPO_Synonym__c":"Cavus foot; High-arched foot","HPO_Name__c":"Pes cavus","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["autosomal dominant charcot-marie-tooth disease type 2e"," charcot-marie-tooth disease type 2 caused by mutation in nefl"," charcot-marie-tooth disease, axonal, type 2e"," charcot-marie-tooth disease, type 2e"," charcot-marie-tooth neuropathy type 2e"," charcot-marie-tooth neuropathy, type 2e"," cmt2e"," nefl charcot-marie-tooth disease type 2"]}