{"Name":"Charcot-Marie-Tooth disease axonal type 2F","DiseaseID__c":"GARD:0009194","id":9194,"encodedName":"charcot-marie-tooth-disease-axonal-type-2f","IsDeleted":false,"Disease_Name_Full__c":"Charcot-Marie-Tooth disease axonal type 2F","Xref_IDs__c":"719510006; C1847823; C535413; DOID:0110163; MEDGEN:335784; MONDO:0011687; OMIM:606595; ORPHA:99940","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":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0011687","Disease_Description__c":"A form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by symmetric weakness primarily occurring in the lower limbs (distal muscles in a majority of cases) and reaching the arms only after 5 to 10 years, occasional and predominantly distal sensory loss and reduced tendon reflexes. It presents with gait anomaly between the 1st and 6th decade and early onset is generally associated to a more severe phenotype which may include foot drop.","GARD_Name__c":"Charcot-Marie-Tooth disease axonal type 2F","GARD_Synonym__c":"autosomal dominant charcot-marie-tooth disease type 2f; charcot-marie-tooth disease type 2 caused by mutation in hspb1; charcot-marie-tooth disease, neuronal, type 2f; charcot-marie-tooth neuronal type 2f; charcot-marie-tooth neuropathy type 2f; cmt2f; hspb1 charcot-marie-tooth disease type 2","Curated_Disease_Description_Source__c":"GARD:0009194","Curated_Disease_Description__c":"Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a genetic disorder of the peripheral nerves. Nerve conduction velocities are usually normal or near-normal. CMT2F is caused by genetic changes in the HSPB1 gene and is inherited in an autosomal dominant manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:99940","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011687","ORPHANET_ID__c":"ORPHA:99940","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth autosómica dominante tipo 2f","Spanish_Description_Source__c":"ORPHA:99940","Spanish_Description__c":"Es una forma de la enfermedad de Charcot-Marie-Tooth axonal, una neuropatía periférica sensitivo-motora, caracterizada por debilidad simétrica que se da principalmente en los miembros inferiores (en los músculos distales en la mayoría de los casos) y que afecta a los miembros superiores entre 5-10 años más tarde, pérdida sensorial ocasional y predominantemente distal y reducción de los reflejos tendinosos. Se presenta con marcha anómala entre la 1ª y la 6ª década y la aparición temprana se asocia generalmente a una patología más grave que puede incluir el pie caído.","Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth autosómica dominante tipo 2f","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":"Autosomal dominant Charcot-Marie-Tooth disease type 2F (CMT2F) is a genetic disorder of the peripheral nerves. Nerve conduction velocities are usually normal or near-normal. CMT2F is caused by genetic changes in the HSPB1 gene and is inherited in an autosomal dominant manner.","Curated_Disease_Description_Source__c":"GARD:0009194","GARD_Synonym__c":"autosomal dominant charcot-marie-tooth disease type 2f; charcot-marie-tooth disease type 2 caused by mutation in hspb1; charcot-marie-tooth disease, neuronal, type 2f; charcot-marie-tooth neuronal type 2f; charcot-marie-tooth neuropathy type 2f; cmt2f; hspb1 charcot-marie-tooth disease type 2","Name":"Charcot-Marie-Tooth disease axonal type 2F","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":"Elderly","Provided_By__c":"ORPHA:99940"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:99940"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:99940"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1847823"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009194","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1358","Source__c":"Gene Review","Xref__c":"NBK1358"},{"URL__c":"https://www.omim.org/entry/606595","Source__c":"C1847823; MONDO:0011687; ORPHA:99940","Xref__c":"OMIM:606595"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719510006","Source__c":"C1847823; MONDO:0011687","Xref__c":"719510006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=335784","Source__c":"C1847823","Xref__c":"MEDGEN:335784"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535413","Source__c":"MONDO:0011687","Xref__c":"C535413"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1847823","Source__c":"C1847823","Xref__c":"C1847823"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110163","Source__c":"MONDO:0011687","Xref__c":"DOID:0110163"},{"URL__c":"https://www.orpha.net/en/disease/detail/99940","Source__c":"C1847823; MONDO:0011687; ORPHA:99940","Xref__c":"ORPHA:99940"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011687","Source__c":"GARD:0009194","Xref__c":"MONDO:0011687"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"HSPB1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/hspb1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:99940","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles of the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007340","HPO_Synonym__c":"Leg weakness; Lower extremity weakness; Lower limb muscle weakness; Lower limb weakness; Muscle weakness in lower limbs","HPO_Name__c":"Lower limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99940","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Muscular atrophy of distal leg muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008944","HPO_Synonym__c":"Lower leg amyotrophy; Lower limb degeneration; Muscle atrophy, lower limb, distal","HPO_Name__c":"Distal lower limb amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99940","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Evidence of chronic denervation on electromyography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003444","HPO_Name__c":"EMG: chronic denervation signs","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"ORPHA:99940","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":"ORPHA:99940","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003445","HPO_Synonym__c":"EMG: neurogenic abnormalities; EMG: neurogenic changes; EMG: neurogenic findings","HPO_Name__c":"EMG: neuropathic changes","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"ORPHA:99940","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced ability to perceive painful stimuli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007328","HPO_Synonym__c":"Decreased pain sensation; Decreased pinprick sensation; Impaired pain sensation","HPO_Name__c":"Impaired pain sensation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99940","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001762","HPO_Synonym__c":"Club feet; Club foot; Clubbing of feet; Clubfeet; Clubfoot; Equinovarus; Foot, talipes equinovarus; Pes equinovarus; Pes equinus","HPO_Name__c":"Talipes equinovarus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99940","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Fasciculations affecting the musculature of the arms and legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007289","HPO_Synonym__c":"Limb fasciculation","HPO_Name__c":"Limb fasciculations","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99940","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:99940","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduced ability to discriminate between different temperatures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010829","HPO_Synonym__c":"Abnormality of temperature sensation; Impaired temperature sensation; Impaired thermal sensitivity; Loss of temperature sensation","HPO_Name__c":"Impaired temperature sensation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:99940","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":"ORPHA:99940","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001315","HPO_Synonym__c":"Absent or decreased deep tendon reflexes; Decreased deep tendon reflexes; Decreased tendon reflexes; Decreased to absent deep tendon reflexes; Decreased/absent deep tendon reflexes; Depressed tendon reflexes; Diminished deep tendon reflexes; Diminished or absent deep tendon reflexes; Diminished or absent tendon reflexes; Hypoactive to absent deep tendon reflexes; Impaired tendon reflexes; Reduced/absent deep tendon reflexes; Weak or absent deep tendon reflexes","HPO_Name__c":"Reduced tendon reflexes","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 charcot-marie-tooth disease type 2f"," charcot-marie-tooth disease type 2 caused by mutation in hspb1"," charcot-marie-tooth disease, neuronal, type 2f"," charcot-marie-tooth neuronal type 2f"," charcot-marie-tooth neuropathy type 2f"," cmt2f"," hspb1 charcot-marie-tooth disease type 2"]}