{"Name":"Charcot-Marie-Tooth disease dominant intermediate C","DiseaseID__c":"GARD:0012439","id":12439,"encodedName":"charcot-marie-tooth-disease-dominant-intermediate-c","IsDeleted":false,"Disease_Name_Full__c":"Charcot-Marie-Tooth disease dominant intermediate C","Xref_IDs__c":"765746008; C1842237; C564257; DOID:0110199; MEDGEN:334023; MONDO:0012012; OMIM:608323; ORPHA:100045","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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0012012","Disease_Description__c":"A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs.","GARD_Name__c":"Charcot-Marie-Tooth disease dominant intermediate C","GARD_Synonym__c":"autosomal dominant intermediate charcot-marie-tooth disease type c; charcot-marie-tooth disease caused by mutation in yars; charcot-marie-tooth disease dominant intermediate type c; charcot-marie-tooth disease, dominant intermediate type c; charcot-marie-tooth neuropathy dominant intermediate c; charcot-marie-tooth neuropathy, dominant intermediate c; cmtdic; di-cmtc; yars charcot-marie-tooth disease","Curated_Disease_Description_Source__c":"MONDO:0012012","Curated_Disease_Description__c":"A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:100045","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012012","ORPHANET_ID__c":"ORPHA:100045","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth intermedia autosómica dominante tipo c","Spanish_Description_Source__c":"ORPHA:100045","Spanish_Description__c":"Es una neuropatía sensitivo-motora hereditaria y poco frecuente caracterizada por velocidades de conducción intermedias del nervio mediano (generalmente entre 25 y 60 m/s). Presenta las características clínicas habituales de la enfermedad de Charcot-Marie-Tooth, moderadamente graves y lentamente progresivas (debilidad muscular y atrofia distal de las extremidades, déficit sensitivo distal, reflejos osteotendinosos reducidos o ausentes, deformidades de los pies, atrofia del extensor digitorum brevis). Los hallazgos en las biopsias de nervio incluyen degeneración axonal edad dependiente, reducción del número de fibras gruesas mielinizadas, remielinización segmentaria y ausencia de formación de ''bulbo de cebolla''.","Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth intermedia autosómica dominante tipo c","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 hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs.","Curated_Disease_Description_Source__c":"MONDO:0012012","GARD_Synonym__c":"autosomal dominant intermediate charcot-marie-tooth disease type c; charcot-marie-tooth disease caused by mutation in yars; charcot-marie-tooth disease dominant intermediate type c; charcot-marie-tooth disease, dominant intermediate type c; charcot-marie-tooth neuropathy dominant intermediate c; charcot-marie-tooth neuropathy, dominant intermediate c; cmtdic; di-cmtc; yars charcot-marie-tooth disease","Name":"Charcot-Marie-Tooth disease dominant intermediate C","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"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":"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":"Adult","Provided_By__c":"ORPHA:100045"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:100045"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:100045"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1842237"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110199","Source__c":"MONDO:0012012","Xref__c":"DOID:0110199"},{"URL__c":"https://www.omim.org/entry/608323","Source__c":"C1842237; MONDO:0012012; ORPHA:100045","Xref__c":"OMIM:608323"},{"URL__c":"https://www.orpha.net/en/disease/detail/100045","Source__c":"C1842237; MONDO:0012012; ORPHA:100045","Xref__c":"ORPHA:100045"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=334023","Source__c":"C1842237","Xref__c":"MEDGEN:334023"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1842237","Source__c":"C1842237","Xref__c":"C1842237"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564257","Source__c":"MONDO:0012012","Xref__c":"C564257"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=765746008","Source__c":"C1842237; MONDO:0012012","Xref__c":"765746008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012012","Source__c":"GARD:0012439","Xref__c":"MONDO:0012012"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"YARS1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:608323","HPO_Frequency__c":"Very frequent (80-99%)","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:608323","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced speed of conduction of the action potential along a sensory nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003448","HPO_Synonym__c":"Decreased sensory NCV; Decreased sensory nerve conduction velocities","HPO_Name__c":"Decreased sensory nerve conduction velocity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}},{"Provided_By__c":"OMIM:608323","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:608323","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":"OMIM:608323","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of decreased nerve conduction velocity that affects the motor neuron.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003431","HPO_Synonym__c":"Decreased motor NCV; Decreased motor nerve conduction velocities; Reduced motor nerve conduction velocity","HPO_Name__c":"Decreased motor nerve conduction velocity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}},{"Provided_By__c":"OMIM:608323","HPO_Frequency__c":"Very frequent (80-99%)","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:608323","Feature__r":{"HPO_Description__c":"The presence of axonal regeneration following a previous axonal lesion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003450","HPO_Synonym__c":"Regenerative activity on nerve biopsy","HPO_Name__c":"Axonal regeneration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608323","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":"OMIM:608323","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:608323","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:608323","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:608323","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","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["autosomal dominant intermediate charcot-marie-tooth disease type c"," charcot-marie-tooth disease caused by mutation in yars"," charcot-marie-tooth disease dominant intermediate type c"," charcot-marie-tooth disease, dominant intermediate type c"," charcot-marie-tooth neuropathy dominant intermediate c"," charcot-marie-tooth neuropathy, dominant intermediate c"," cmtdic"," di-cmtc"," yars charcot-marie-tooth disease"]}