{"Name":"Charcot-Marie-Tooth disease axonal type 2U","DiseaseID__c":"GARD:0017638","id":17638,"encodedName":"charcot-marie-tooth-disease-axonal-type-2u","IsDeleted":false,"Disease_Name_Full__c":"Charcot-Marie-Tooth disease axonal type 2U","Xref_IDs__c":"765046002; C4084821; DOID:0110173; MEDGEN:906504; MONDO:0014566; OMIM:616280; ORPHA:397735","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0014566","Disease_Description__c":"A subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated.","GARD_Name__c":"Charcot-Marie-Tooth disease axonal type 2U","GARD_Synonym__c":"autosomal dominant axonal charcot-marie-tooth disease type 2u; autosomal dominant charcot-marie-tooth disease type 2 due to mars (methionyl-trna synthetase) mutation; autosomal dominant charcot-marie-tooth disease type 2 due to mars mutation; autosomal dominant charcot-marie-tooth disease type 2u; charcot-marie-tooth disease type 2 caused by mutation in mars; charcot-marie-tooth disease, axonal, autosomal dominant, type 2u; charcot-marie-tooth neuropathy type 2u; charcot-marie-tooth neuropathy, type 2u; cmt2u; mars charcot-marie-tooth disease type 2","Curated_Disease_Description_Source__c":"MONDO:0014566","Curated_Disease_Description__c":"A subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:397735","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014566","ORPHANET_ID__c":"ORPHA:397735","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth autosómica dominante tipo 2u","Spanish_Description_Source__c":"ORPHA:397735","Spanish_Description__c":"Es un subtipo de la enfermedad de Charcot-Marie-Tooth tipo 2 autosómica dominante caracterizada por el inicio en la edad adulta tardía (50-60 años de edad) de neuropatía sensitivo-motora periférica axonal, lentamente progresiva, que resulta en debilidad y atrofia muscular de los miembros superiores distales y de los miembros inferiores distales y proximales, en conjunción con deterioro sensorial panmodal de las extremidades superiores e inferiores distales. Los reflejos tendinosos están reducidos y las velocidades de conducción nerviosa varían de reducidas a ausentes. También se asocia dolor neuropático.","Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth autosómica dominante tipo 2u","Spanish_GARD_Synonym__c":"cmt2u; enfermedad de charcot-marie-tooth autosómica dominante tipo 2 por una mutación en el gen mars","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 subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated.","Curated_Disease_Description_Source__c":"MONDO:0014566","GARD_Synonym__c":"autosomal dominant axonal charcot-marie-tooth disease type 2u; autosomal dominant charcot-marie-tooth disease type 2 due to mars (methionyl-trna synthetase) mutation; autosomal dominant charcot-marie-tooth disease type 2 due to mars mutation; autosomal dominant charcot-marie-tooth disease type 2u; charcot-marie-tooth disease type 2 caused by mutation in mars; charcot-marie-tooth disease, axonal, autosomal dominant, type 2u; charcot-marie-tooth neuropathy type 2u; charcot-marie-tooth neuropathy, type 2u; cmt2u; mars charcot-marie-tooth disease type 2","Name":"Charcot-Marie-Tooth disease axonal type 2U","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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:397735"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.omim.org/entry/616280","Source__c":"C4084821; MONDO:0014566; ORPHA:397735","Xref__c":"OMIM:616280"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=765046002","Source__c":"C4084821; MONDO:0014566","Xref__c":"765046002"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110173","Source__c":"MONDO:0014566","Xref__c":"DOID:0110173"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4084821","Source__c":"C4084821","Xref__c":"C4084821"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=906504","Source__c":"C4084821","Xref__c":"MEDGEN:906504"},{"URL__c":"https://www.orpha.net/en/disease/detail/397735","Source__c":"C4084821; MONDO:0014566; ORPHA:397735","Xref__c":"ORPHA:397735"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014566","Source__c":"GARD:0017638","Xref__c":"MONDO:0014566"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MARS1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:616280","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:616280","Feature__r":{"HPO_Description__c":"Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009027","HPO_Synonym__c":"Foot drop; Foot extensor weakness; Footdrop; Inability to heel walk; Inability to walk on heels","HPO_Name__c":"Foot dorsiflexor weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616280","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":"OMIM:616280","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":"OMIM:616280","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:616280","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Muscular atrophy involving the muscles of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009130","HPO_Synonym__c":"Amyotrophy involving the musculature of the hand; Amyotrophy of hand muscles; Hand muscle degeneration; Hand muscle wasting; Hand muscle wasting, bilateral","HPO_Name__c":"Hand muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616280","Feature__r":{"HPO_Description__c":"Absence of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001284","HPO_Synonym__c":"Absent deep tendon reflexes; Absent tendon reflexes; Deep tendon reflexes absent; Loss of deep tendon reflexes; Lost deep tendon reflexes","HPO_Name__c":"Areflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616280","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:616280","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of the musculature of the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030237","HPO_Synonym__c":"Hand muscle weakness","HPO_Name__c":"Hand muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616280","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine"],"Account":["Peripheral Neuropathy"]},"synonyms":["autosomal dominant axonal charcot-marie-tooth disease type 2u"," autosomal dominant charcot-marie-tooth disease type 2 due to mars (methionyl-trna synthetase) mutation"," autosomal dominant charcot-marie-tooth disease type 2 due to mars mutation"," autosomal dominant charcot-marie-tooth disease type 2u"," charcot-marie-tooth disease type 2 caused by mutation in mars"," charcot-marie-tooth disease, axonal, autosomal dominant, type 2u"," charcot-marie-tooth neuropathy type 2u"," charcot-marie-tooth neuropathy, type 2u"," cmt2u"," mars charcot-marie-tooth disease type 2"]}