{"Name":"Charcot-Marie-Tooth disease type 2D","DiseaseID__c":"GARD:0001251","id":1251,"encodedName":"charcot-marie-tooth-disease-type-2d","IsDeleted":false,"Disease_Name_Full__c":"Charcot-Marie-Tooth disease type 2D","Xref_IDs__c":"717011006; C122659; C1832274; C537993; DOID:0110164; MEDGEN:316946; MONDO:0011091; OMIM:601472; ORPHA:99938","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":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011091","Disease_Description__c":"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.","GARD_Name__c":"Charcot-Marie-Tooth disease type 2D","GARD_Synonym__c":"autosomal dominant charcot-marie-tooth disease type 2d; charcot-marie-tooth disease neuronal type 2d; charcot-marie-tooth disease type 2 caused by mutation in gars; charcot-marie-tooth disease, axonal, type 2d; charcot-marie-tooth disease, neuronal, type 2d; charcot-marie-tooth disease, type 2d; charcot-marie-tooth neuropathy type 2d; cmt2d; gars charcot-marie-tooth disease type 2","Curated_Disease_Description_Source__c":"MONDO:0011091","Curated_Disease_Description__c":"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.","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:99938","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011091","ORPHANET_ID__c":"ORPHA:99938","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth autosómica dominante tipo 2d","Spanish_Description_Source__c":"ORPHA:99938","Spanish_Description__c":"Es una forma de la enfermedad de Charcot-Marie-Tooth axonal, una neuropatía periférica sensitivo-motora, caracterizada principalmente por debilidad distal, que afecta predominantemente a los miembros superiores, y reflejos tendinosos ausentes o reducidos en las extremidades superiores y disminuidos en las extremidades inferiores. Es de progresión lenta.","Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth autosómica dominante tipo 2d","Spanish_GARD_Synonym__c":"cmt2d","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, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow.","Curated_Disease_Description_Source__c":"MONDO:0011091","GARD_Synonym__c":"autosomal dominant charcot-marie-tooth disease type 2d; charcot-marie-tooth disease neuronal type 2d; charcot-marie-tooth disease type 2 caused by mutation in gars; charcot-marie-tooth disease, axonal, type 2d; charcot-marie-tooth disease, neuronal, type 2d; charcot-marie-tooth disease, type 2d; charcot-marie-tooth neuropathy type 2d; cmt2d; gars charcot-marie-tooth disease type 2","Name":"Charcot-Marie-Tooth disease type 2D","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","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:99938"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:99938"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1832274"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1358","Source__c":"Gene Review","Xref__c":"NBK1358"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1242","Source__c":"Gene Review","Xref__c":"NBK1242"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832274","Source__c":"C1832274","Xref__c":"C1832274"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537993","Source__c":"MONDO:0011091","Xref__c":"C537993"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=316946","Source__c":"C1832274","Xref__c":"MEDGEN:316946"},{"URL__c":"https://www.orpha.net/en/disease/detail/99938","Source__c":"C1832274; MONDO:0011091; ORPHA:99938","Xref__c":"ORPHA:99938"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717011006","Source__c":"C1832274; MONDO:0011091","Xref__c":"717011006"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110164","Source__c":"MONDO:0011091","Xref__c":"DOID:0110164"},{"URL__c":"https://www.omim.org/entry/601472","Source__c":"C1832274; MONDO:0011091; ORPHA:99938","Xref__c":"OMIM:601472"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C122659","Source__c":"C1832274; MONDO:0011091","Xref__c":"C122659"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011091","Source__c":"GARD:0001251","Xref__c":"MONDO:0011091"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GARS1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gars1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:601472","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:601472","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:601472","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003392","HPO_Name__c":"First dorsal interossei muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601472","Feature__r":{"HPO_Description__c":"A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002172","HPO_Synonym__c":"Balance impairment","HPO_Name__c":"Postural instability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601472","Feature__r":{"HPO_Description__c":"Wasting of thenar muscles, which are located on palm of the hand at the base of the thumb.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003393","HPO_Synonym__c":"Thenar atrophy","HPO_Name__c":"Thenar muscle atrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601472","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:601472","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003427","HPO_Name__c":"Thenar muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601472","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601472","Feature__r":{"HPO_Description__c":"Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001765","HPO_Synonym__c":"Hammer toe; Hammertoe; Hammertoes","HPO_Name__c":"Hammertoe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601472","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:601472","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:601472","Feature__r":{"HPO_Description__c":"Muscular atrophy involving the muscles of the upper limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009129","HPO_Synonym__c":"Amyotrophy involving the upper limbs","HPO_Name__c":"Upper limb amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601472","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003435","HPO_Name__c":"Cold-induced hand cramps","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601472","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:601472","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003426","HPO_Name__c":"First dorsal interossei muscle atrophy","Feature_System__c":"Musculoskeletal 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 charcot-marie-tooth disease type 2d"," charcot-marie-tooth disease neuronal type 2d"," charcot-marie-tooth disease type 2 caused by mutation in gars"," charcot-marie-tooth disease, axonal, type 2d"," charcot-marie-tooth disease, neuronal, type 2d"," charcot-marie-tooth disease, type 2d"," charcot-marie-tooth neuropathy type 2d"," cmt2d"," gars charcot-marie-tooth disease type 2"]}