{"Name":"Charcot-Marie-Tooth disease type 1C","DiseaseID__c":"GARD:0001247","id":1247,"encodedName":"charcot-marie-tooth-disease-type-1c","IsDeleted":false,"Disease_Name_Full__c":"Charcot-Marie-Tooth disease type 1C","Xref_IDs__c":"C0270913; C537984; DOID:0110151; MEDGEN:75728; MONDO:0010995; OMIM:601098; ORPHA:101083","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:0010995","Disease_Description__c":"Any Charcot-Marie-Tooth disease type 1 in which the cause of the disease is a mutation in the LITAF gene.","GARD_Name__c":"Charcot-Marie-Tooth disease type 1C","GARD_Synonym__c":"charcot-marie-tooth disease type 1 caused by mutation in litaf; charcot-marie-tooth disease, demyelinating, type 1c; charcot-marie-tooth disease, type 1c; charcot-marie-tooth disease, type ic; charcot-marie-tooth neuropathy type 1c; charcot-marie-tooth neuropathy, type 1c; cmt slow nerve conduction type c; cmt, slow nerve conduction type c; cmt1c; hmsn ic; hmsn1c; litaf charcot-marie-tooth disease type 1; neuropathy hereditary motor and sensory type 1c; neuropathy, hereditary motor and sensory, type ic","Curated_Disease_Description_Source__c":"ORPHA:101083","Curated_Disease_Description__c":"A rare, autosomal dominant, hereditary, demyelinating motor and sensory neuropathy which may present either as a classic Charcot-Marie-Tooth disease phenotype with distal motor weakness and wasting, gait difficulties, parethesias, decreased vibration and pain sensation, or as a milder, predominantly sensory form with transient paresthesias, decreased sensation and distal pain in upper or lower limbs, without significant motor weakness. Pes cavus is a common feature, and additional symptoms may include hand tremor and decreased or absent deep tendon reflexes.","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:101083","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010995","ORPHANET_ID__c":"ORPHA:101083","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth tipo 1c","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth tipo 1c","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, autosomal dominant, hereditary, demyelinating motor and sensory neuropathy which may present either as a classic Charcot-Marie-Tooth disease phenotype with distal motor weakness and wasting, gait difficulties, parethesias, decreased vibration and pain sensation, or as a milder, predominantly sensory form with transient paresthesias, decreased sensation and distal pain in upper or lower limbs, without significant motor weakness. Pes cavus is a common feature, and additional symptoms may include hand tremor and decreased or absent deep tendon reflexes.","Curated_Disease_Description_Source__c":"ORPHA:101083","GARD_Synonym__c":"charcot-marie-tooth disease type 1 caused by mutation in litaf; charcot-marie-tooth disease, demyelinating, type 1c; charcot-marie-tooth disease, type 1c; charcot-marie-tooth disease, type ic; charcot-marie-tooth neuropathy type 1c; charcot-marie-tooth neuropathy, type 1c; cmt slow nerve conduction type c; cmt, slow nerve conduction type c; cmt1c; hmsn ic; hmsn1c; litaf charcot-marie-tooth disease type 1; neuropathy hereditary motor and sensory type 1c; neuropathy, hereditary motor and sensory, type ic","Name":"Charcot-Marie-Tooth disease type 1C","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:101083"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:101083"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:101083"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0270913"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=75728","Source__c":"C0270913","Xref__c":"MEDGEN:75728"},{"URL__c":"https://www.omim.org/entry/601098","Source__c":"C0270913; MONDO:0010995; ORPHA:101083","Xref__c":"OMIM:601098"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537984","Source__c":"MONDO:0010995","Xref__c":"C537984"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110151","Source__c":"MONDO:0010995","Xref__c":"DOID:0110151"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0270913","Source__c":"C0270913","Xref__c":"C0270913"},{"URL__c":"https://www.orpha.net/en/disease/detail/101083","Source__c":"C0270913; MONDO:0010995; ORPHA:101083","Xref__c":"ORPHA:101083"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=4183003","Source__c":"C0270913","Xref__c":"4183003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010995","Source__c":"GARD:0001247","Xref__c":"MONDO:0010995"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LITAF","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:601098","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the amplitude of sensory nerve action potential in distal nerve segments. This feature is measured by nerve conduction studies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007230","HPO_Name__c":"Decreased distal sensory nerve action potential","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}},{"Provided_By__c":"OMIM:601098","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007141","HPO_Synonym__c":"Mixed polyneuropathy; Nerve damage causing decreased feeling and movement; Sensorimotor peripheral neuropathy","HPO_Name__c":"Sensorimotor neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601098","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A generalized disorder of peripheral nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001271","HPO_Synonym__c":"Peripheral nerve disease","HPO_Name__c":"Polyneuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601098","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:601098","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601098","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the speed at which electrical signals propagate along the axon of a neuron.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000762","HPO_Synonym__c":"Decreased NCV; Decreased nerve conduction velocities; Delayed nerve conduction velocity; Reduced nerve conduction velocities; Slow nerve conduction velocity; Slowed nerve conduction velocities","HPO_Name__c":"Decreased nerve conduction velocity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}},{"Provided_By__c":"OMIM:601098","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003382","HPO_Name__c":"Hypertrophic nerve changes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601098","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:601098","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002066","HPO_Synonym__c":"Ataxia of gait; Ataxic gait; Inability to coordinate movements when walking","HPO_Name__c":"Gait ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601098","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal sensations such as tingling, pricking, or numbness of the skin with no apparent physical cause.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003401","HPO_Synonym__c":"Paresthesias; Pins and needles feeling; Tingling","HPO_Name__c":"Paresthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601098","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:601098","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:601098","Feature__r":{"HPO_Description__c":"A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003481","HPO_Synonym__c":"Segmental demyelination/remyelination","HPO_Name__c":"Segmental peripheral demyelination/remyelination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601098","Feature__r":{"HPO_Description__c":"Repeated episodes of segmental demyelination and remyelination lead to the accumulation of supernumerary Schwann cells around axons, which is referred to as onion bulb formation. This finding affects peripheral nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003383","HPO_Name__c":"Onion bulb formation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601098","HPO_Frequency__c":"Frequent (30-79%)","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:601098","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Decreased ability to perceive touch.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033748","HPO_Synonym__c":"Numbness","HPO_Name__c":"Hypoesthesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601098","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002403","HPO_Name__c":"Positive Romberg sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601098","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["charcot-marie-tooth disease type 1 caused by mutation in litaf"," charcot-marie-tooth disease, demyelinating, type 1c"," charcot-marie-tooth disease, type 1c"," charcot-marie-tooth disease, type ic"," charcot-marie-tooth neuropathy type 1c"," charcot-marie-tooth neuropathy, type 1c"," cmt slow nerve conduction type c"," cmt, slow nerve conduction type c"," cmt1c"," hmsn ic"," hmsn1c"," litaf charcot-marie-tooth disease type 1"," neuropathy hereditary motor and sensory type 1c"," neuropathy, hereditary motor and sensory, type ic"]}