{"Name":"Charcot-Marie-Tooth disease axonal type 2H","DiseaseID__c":"GARD:0009196","id":9196,"encodedName":"charcot-marie-tooth-disease-axonal-type-2h","IsDeleted":false,"Disease_Name_Full__c":"Charcot-Marie-Tooth disease axonal type 2H","Xref_IDs__c":"720637005; C1843173; C535415; DOID:0110166; MEDGEN:334344; MONDO:0011901; OMIM:607731; ORPHA:101102","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":1,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011901","Disease_Description__c":"Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.","GARD_Name__c":"Charcot-Marie-Tooth disease axonal type 2H","GARD_Synonym__c":"ar-cmt2c; autosomal recessive axonal charcot-marie-tooth disease with pyramidal features; autosomal recessive axonal charcot-marie-tooth neuropathy with pyramidal features; autosomal recessive axonal cmt4c2; axonal charcot-marie-tooth disease with pyramidal involvement; charcot-marie-tooth disease type 2h; charcot-marie-tooth disease, axonal, with pyramidal features, autosomal recessive; charcot-marie-tooth neuropathy, axonal, with pyramidal features, autosomal recessive; cmt2h","Curated_Disease_Description_Source__c":"MONDO:0011901","Curated_Disease_Description__c":"Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:101102","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011901","ORPHANET_ID__c":"ORPHA:101102","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth tipo 2h","Spanish_Description_Source__c":"ORPHA:101102","Spanish_Description__c":"La enfermedad de Charcot-Marie-Tooth, tipo 2H (CMT2H, también referida como CMT4C2) es una polineuropatía motora y sensitiva periférica CMT axonal asociada a afectación piramidal.","Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth tipo 2h","Spanish_GARD_Synonym__c":"cmt2c-ar; cmt2h; cmt4c2 axonal autosómica recesiva; enfermedad de charcot-marie-tooth axonal con afectación piramidal","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":"Charcot-Marie-Tooth disease, type 2H (CMT2H, also referred to as CMT4C2) is an axonal CMT peripheral sensorimotor polyneuropathy associated with pyramidal involvement.","Curated_Disease_Description_Source__c":"MONDO:0011901","GARD_Synonym__c":"ar-cmt2c; autosomal recessive axonal charcot-marie-tooth disease with pyramidal features; autosomal recessive axonal charcot-marie-tooth neuropathy with pyramidal features; autosomal recessive axonal cmt4c2; axonal charcot-marie-tooth disease with pyramidal involvement; charcot-marie-tooth disease type 2h; charcot-marie-tooth disease, axonal, with pyramidal features, autosomal recessive; charcot-marie-tooth neuropathy, axonal, with pyramidal features, autosomal recessive; cmt2h","Name":"Charcot-Marie-Tooth disease axonal type 2H","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":"Childhood","Provided_By__c":"ORPHA:101102"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1843173"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110166","Source__c":"MONDO:0011901","Xref__c":"DOID:0110166"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1843173","Source__c":"C1843173","Xref__c":"C1843173"},{"URL__c":"https://www.orpha.net/en/disease/detail/101102","Source__c":"C1843173; MONDO:0011901; ORPHA:101102","Xref__c":"ORPHA:101102"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535415","Source__c":"MONDO:0011901","Xref__c":"C535415"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=334344","Source__c":"C1843173","Xref__c":"MEDGEN:334344"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720637005","Source__c":"C1843173; MONDO:0011901","Xref__c":"720637005"},{"URL__c":"https://www.omim.org/entry/607731","Source__c":"C1843173; MONDO:0011901; ORPHA:101102","Xref__c":"OMIM:607731"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011901","Source__c":"GARD:0009196","Xref__c":"MONDO:0011901"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:607731","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:607731","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:607731","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:607731","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:607731","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007083","HPO_Synonym__c":"Hyperreflexia in knees; Overactive knee reflex","HPO_Name__c":"Hyperactive patellar reflex","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607731","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:607731","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:607731","Feature__r":{"HPO_Description__c":"A loss of myelinated nerve fibers in the peripheral nervous system (in general, this finding can be observed on nerve biopsy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003380","HPO_Synonym__c":"Decreased number of large and small myelinated fibers; Loss of myelinated fibers","HPO_Name__c":"Decreased number of peripheral myelinated nerve fibers","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607731","Feature__r":{"HPO_Description__c":"Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003438","HPO_Synonym__c":"Absent ankle reflexes","HPO_Name__c":"Absent Achilles reflex","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607731","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:607731","Feature__r":{"HPO_Description__c":"Increased intensity of the a reflex in the arm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007350","HPO_Synonym__c":"Hyperreflexia in upper limbs","HPO_Name__c":"Upper limb hyperreflexia","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":["ar-cmt2c"," autosomal recessive axonal charcot-marie-tooth disease with pyramidal features"," autosomal recessive axonal charcot-marie-tooth neuropathy with pyramidal features"," autosomal recessive axonal cmt4c2"," axonal charcot-marie-tooth disease with pyramidal involvement"," charcot-marie-tooth disease type 2h"," charcot-marie-tooth disease, axonal, with pyramidal features, autosomal recessive"," charcot-marie-tooth neuropathy, axonal, with pyramidal features, autosomal recessive"," cmt2h"]}