{"Name":"Charcot-Marie-Tooth disease type 1D","DiseaseID__c":"GARD:0009189","id":9189,"encodedName":"charcot-marie-tooth-disease-type-1d","IsDeleted":false,"Disease_Name_Full__c":"Charcot-Marie-Tooth disease type 1D","Xref_IDs__c":"719979008; C1843247; C537985; DOID:0110150; MEDGEN:334709; MONDO:0011890; OMIM:607678; ORPHA:101084","USA_Estimate__c":null,"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":null,"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":4,"Description_Source__c":"MONDO:0011890","Disease_Description__c":"Charcot-Marie-Tooth disease type 1D (CMT1D) is a form of CMT1 (see this term), caused by mutations in the <i>EGR2</i> gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis.","GARD_Name__c":"Charcot-Marie-Tooth disease type 1D","GARD_Synonym__c":"charcot-marie-tooth disease type 1 caused by mutation in egr2; charcot-marie-tooth disease type id; charcot-marie-tooth disease, demyelinating, type 1d; charcot-marie-tooth disease, type 1d; charcot-marie-tooth neuropathy type 1d; charcot-marie-tooth neuropathy, type 1d; cmt1d; egr2 charcot-marie-tooth disease type 1; hereditary motor and sensory neuropathy 1d; hmsn id; hmsn1d","Curated_Disease_Description_Source__c":"ORPHA:101084","Curated_Disease_Description__c":"Charcot-Marie-Tooth disease type 1D (CMT1D) is a form of CMT1, caused by mutations in the <i>EGR2</i> gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:101084","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011890","ORPHANET_ID__c":"ORPHA:101084","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth tipo 1d","Spanish_Description_Source__c":"ORPHA:101084","Spanish_Description__c":"Es una forma de CMT1 causada por mutaciones en el gen EGR2 (10q21.1), de gravedad y edad de inicio variables (desde la lactancia hasta la adolescencia). Por lo general, se presenta con alteraciones de la marcha, atrofia y debilidad progresiva de los músculos distales de las extremidades, con posible afectación tardía de los músculos proximales, malformación del pie y una reducción grave de la velocidad de conducción nerviosa. Otros hallazgos adicionales pueden incluir la escoliosis, déficits de los pares craneales que cursan con diplopía o paresia bilateral de las cuerdas vocales.","Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth tipo 1d","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":"Charcot-Marie-Tooth disease type 1D (CMT1D) is a form of CMT1, caused by mutations in the <i>EGR2</i> gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis.","Curated_Disease_Description_Source__c":"ORPHA:101084","GARD_Synonym__c":"charcot-marie-tooth disease type 1 caused by mutation in egr2; charcot-marie-tooth disease type id; charcot-marie-tooth disease, demyelinating, type 1d; charcot-marie-tooth disease, type 1d; charcot-marie-tooth neuropathy type 1d; charcot-marie-tooth neuropathy, type 1d; cmt1d; egr2 charcot-marie-tooth disease type 1; hereditary motor and sensory neuropathy 1d; hmsn id; hmsn1d","Name":"Charcot-Marie-Tooth disease type 1D","estimateUsa":""}],"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:101084"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:101084"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:101084"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:101084"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1843247"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719979008","Source__c":"C1843247; MONDO:0011890","Xref__c":"719979008"},{"URL__c":"https://www.omim.org/entry/607678","Source__c":"C1843247; MONDO:0011890; ORPHA:101084","Xref__c":"OMIM:607678"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1843247","Source__c":"C1843247","Xref__c":"C1843247"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537985","Source__c":"MONDO:0011890","Xref__c":"C537985"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110150","Source__c":"MONDO:0011890","Xref__c":"DOID:0110150"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=334709","Source__c":"C1843247","Xref__c":"MEDGEN:334709"},{"URL__c":"https://www.orpha.net/en/disease/detail/101084","Source__c":"C1843247; MONDO:0011890; ORPHA:101084","Xref__c":"ORPHA:101084"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011890","Source__c":"GARD:0009189","Xref__c":"MONDO:0011890"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"EGR2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:607678","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:607678","HPO_Frequency__c":"Very frequent (80-99%)","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:607678","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:607678","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:607678","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:607678","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009830","HPO_Synonym__c":"Peripheral nerve damage; Peripheral neuritis","HPO_Name__c":"Peripheral neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607678","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"}}],"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 egr2"," charcot-marie-tooth disease type id"," charcot-marie-tooth disease, demyelinating, type 1d"," charcot-marie-tooth disease, type 1d"," charcot-marie-tooth neuropathy type 1d"," charcot-marie-tooth neuropathy, type 1d"," cmt1d"," egr2 charcot-marie-tooth disease type 1"," hereditary motor and sensory neuropathy 1d"," hmsn id"," hmsn1d"]}