{"Name":"Charcot-Marie-Tooth disease axonal type 2Q","DiseaseID__c":"GARD:0012446","id":12446,"encodedName":"charcot-marie-tooth-disease-axonal-type-2q","IsDeleted":false,"Disease_Name_Full__c":"Charcot-Marie-Tooth disease axonal type 2Q","Xref_IDs__c":"C3554366; DOID:0110170; MEDGEN:767280; MONDO:0014012; OMIM:615025; ORPHA:329258","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":2,"Description_Source__c":"MONDO:0014012","Disease_Description__c":"A rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.","GARD_Name__c":"Charcot-Marie-Tooth disease axonal type 2Q","GARD_Synonym__c":"autosomal dominant axonal charcot-marie-tooth disease type 2q; autosomal dominant charcot-marie-tooth disease type 2q; charcot-marie-tooth disease caused by mutation in dhtkd1; charcot-marie-tooth disease, axonal, autosomal dominant, type 2q; charcot-marie-tooth neuropathy type 2q; charcot-marie-tooth neuropathy, type 2q; cmt2q; dhtkd1 charcot-marie-tooth disease","Curated_Disease_Description_Source__c":"MONDO:0014012","Curated_Disease_Description__c":"A rare subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Teenager and as an Adult","SourceID__c":"ORPHA:329258","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014012","ORPHANET_ID__c":"ORPHA:329258","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth autosómica dominante tipo 2q","Spanish_Description_Source__c":"ORPHA:329258","Spanish_Description__c":"Es un subtipo poco frecuente de la enfermedad de Charcot-Marie-Tooth autosómica dominante. Se caracteriza por el inicio en la adolescencia o en la edad adulta y por ser lentamente progresiva, con debilidad muscular y atrofia distal simétrica, afectando predominantemente las extremidades inferiores. Los reflejos tendinosos profundos se encuentran reducidos o ausentes. Se manifiesta también con pie cavo y alteraciones sensitivas profundas de leve a moderadas.","Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth autosómica dominante tipo 2q","Spanish_GARD_Synonym__c":"cmt2q","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 subtype of autosomal dominant Charcot-Marie-Tooth disease type 2, characterized by adolescent to adulthood-onset of symmetrical, slowly progressive distal muscle weakness and atrophy (with a predominant weakness of the distal lower limbs) associated with reduced or absent deep tendon reflexes, pes cavus and mild to moderated deep sensory impairment.","Curated_Disease_Description_Source__c":"MONDO:0014012","GARD_Synonym__c":"autosomal dominant axonal charcot-marie-tooth disease type 2q; autosomal dominant charcot-marie-tooth disease type 2q; charcot-marie-tooth disease caused by mutation in dhtkd1; charcot-marie-tooth disease, axonal, autosomal dominant, type 2q; charcot-marie-tooth neuropathy type 2q; charcot-marie-tooth neuropathy, type 2q; cmt2q; dhtkd1 charcot-marie-tooth disease","Name":"Charcot-Marie-Tooth disease axonal type 2Q","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/"},{"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:329258"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:329258"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3554366"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3554366","Source__c":"C3554366","Xref__c":"C3554366"},{"URL__c":"https://www.omim.org/entry/615025","Source__c":"C3554366; MONDO:0014012; ORPHA:329258","Xref__c":"OMIM:615025"},{"URL__c":"https://www.orpha.net/en/disease/detail/329258","Source__c":"C3554366; MONDO:0014012; ORPHA:329258","Xref__c":"ORPHA:329258"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=767280","Source__c":"C3554366","Xref__c":"MEDGEN:767280"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110170","Source__c":"MONDO:0014012","Xref__c":"DOID:0110170"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014012","Source__c":"GARD:0012446","Xref__c":"MONDO:0014012"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=773393001","Source__c":"C3554366","Xref__c":"773393001"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DHTKD1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615025","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced strength of the distal musculature of the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009053","HPO_Synonym__c":"Distal muscle weakness in lower limbs; Muscle weakness, lower limb, distal","HPO_Name__c":"Distal lower limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615025","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:615025","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of skeletal muscular atrophy (which is also known as amyotrophy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003202","HPO_Synonym__c":"Amyotrophy; Amyotrophy involving the extremities; Muscle atrophy; Muscle atrophy, neurogenic; Muscle degeneration; Muscle hypotrophy; Muscle wasting; Muscular atrophy; Neurogenic muscle atrophy; Neurogenic muscle atrophy, especially in the lower limbs; Neurogenic muscular atrophy","HPO_Name__c":"Skeletal muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615025","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:615025","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A decrease in the ability to perceive vibration in the distal portions of the limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006886","HPO_Synonym__c":"Decreased distal vibration sense","HPO_Name__c":"Impaired distal vibration sensation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615025","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"OMIM:615025","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"}}],"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 2q"," autosomal dominant charcot-marie-tooth disease type 2q"," charcot-marie-tooth disease caused by mutation in dhtkd1"," charcot-marie-tooth disease, axonal, autosomal dominant, type 2q"," charcot-marie-tooth neuropathy type 2q"," charcot-marie-tooth neuropathy, type 2q"," cmt2q"," dhtkd1 charcot-marie-tooth disease"]}