{"Name":"Charcot-Marie-Tooth disease X-linked dominant 1","DiseaseID__c":"GARD:0001258","id":1258,"encodedName":"charcot-marie-tooth-disease-x-linked-dominant-1","IsDeleted":false,"Disease_Name_Full__c":"Charcot-Marie-Tooth disease X-linked dominant 1","Xref_IDs__c":"763455008; C0393808; C129068; DOID:0110209; MEDGEN:98290; MONDO:0010549; OMIM:302800; ORPHA:101075","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":6,"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":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010549","Disease_Description__c":"Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females.","GARD_Name__c":"Charcot-Marie-Tooth disease X-linked dominant 1","GARD_Synonym__c":"charcot marie tooth disease x-linked 1; charcot-marie-tooth disease type x caused by mutation in gjb1; charcot-marie-tooth disease x-linked dominant type 1; charcot-marie-tooth disease, x-linked dominant, 1; charcot-marie-tooth disease, x-linked dominant, type 1; charcot-marie-tooth disease, x-linked, 1; charcot-marie-tooth neuropathy x type 1; charcot-marie-tooth neuropathy x-linked dominant 1; charcot-marie-tooth neuropathy, x-linked dominant, 1, x-linked dominant; charcot-marie-tooth neuropathy, x-linked, 1; charcot-marie-tooth peroneal muscular atrophy, x-linked; cmt1x; cmtx 1; cmtx1; gjb1 charcot-marie-tooth disease type x; hereditary motor and sensory neuropathy, x-linked; hmsn, x-linked; x-linked charcot-marie-tooth disease type 1","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"X-linked Charcot-Marie-Tooth disease type 1 (CMT1X) is a genetic disorder caused by mutations in the GJB1 gene. Symptoms usually start during childhood. The condition affects a person's peripheral nerves, which are the nerves that branch out from the spinal cord. CMT1X is characterized by a decrease in size and strength (atrophy) of the hands and lower limbs that gets worse over time. These symptoms start at the tips of the fingers and toes and progress inwards towards the center of the body. People with CMTX1 also have high-arched feet. CMTX1 causes difficulty lifting the front part of the feet (bilateral foot drop), and reduced reflexes. In some cases, people may also experience mild to moderate sensory loss in their lower legs and feet. They may have hearing loss, and issues with their brain and spine. CTMX1 is inherited in an X-linked manner. While both males and females may be affected, females typically have milder symptoms (and some may not have any symptoms at all).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:101075","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010549","ORPHANET_ID__c":"ORPHA:101075","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth ligada al cromosoma x tipo 1","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth ligada al cromosoma x tipo 1","Spanish_GARD_Synonym__c":"cmt1x; cmtx1","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":"X-linked Charcot-Marie-Tooth disease type 1 (CMT1X) is a genetic disorder caused by mutations in the GJB1 gene. Symptoms usually start during childhood. The condition affects a person's peripheral nerves, which are the nerves that branch out from the spinal cord. CMT1X is characterized by a decrease in size and strength (atrophy) of the hands and lower limbs that gets worse over time. These symptoms start at the tips of the fingers and toes and progress inwards towards the center of the body. People with CMTX1 also have high-arched feet. CMTX1 causes difficulty lifting the front part of the feet (bilateral foot drop), and reduced reflexes. In some cases, people may also experience mild to moderate sensory loss in their lower legs and feet. They may have hearing loss, and issues with their brain and spine. CTMX1 is inherited in an X-linked manner. While both males and females may be affected, females typically have milder symptoms (and some may not have any symptoms at all).","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"charcot marie tooth disease x-linked 1; charcot-marie-tooth disease type x caused by mutation in gjb1; charcot-marie-tooth disease x-linked dominant type 1; charcot-marie-tooth disease, x-linked dominant, 1; charcot-marie-tooth disease, x-linked dominant, type 1; charcot-marie-tooth disease, x-linked, 1; charcot-marie-tooth neuropathy x type 1; charcot-marie-tooth neuropathy x-linked dominant 1; charcot-marie-tooth neuropathy, x-linked dominant, 1, x-linked dominant; charcot-marie-tooth neuropathy, x-linked, 1; charcot-marie-tooth peroneal muscular atrophy, x-linked; cmt1x; cmtx 1; cmtx1; gjb1 charcot-marie-tooth disease type x; hereditary motor and sensory neuropathy, x-linked; hmsn, x-linked; x-linked charcot-marie-tooth disease type 1","Name":"Charcot-Marie-Tooth disease X-linked dominant 1","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"ACMT-Rete per la malattia di Charcot-Marie-Tooth","Website__c":"https://www.acmt-rete.it/"},{"Account_Name__c":"CMT Research Foundation","Website__c":"https://cmtrf.org/"},{"Account_Name__c":"Hereditary Neuropathy Foundation Inc.","Website__c":"https://www.hnf-cure.org/"},{"Account_Name__c":"Muscular Dystrophy Association","Website__c":"https://www.mda.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":"Charcot-Marie-Tooth UK","Website__c":"https://www.cmt.org.uk/"},{"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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"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:101075"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0393808"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1358","Xref__c":"NBK1358"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1374","Source__c":"Gene Review","Xref__c":"NBK1374"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763455008","Source__c":"C0393808; MONDO:0010549","Xref__c":"763455008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98290","Source__c":"C0393808","Xref__c":"MEDGEN:98290"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110209","Source__c":"MONDO:0010549","Xref__c":"DOID:0110209"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C129068","Source__c":"C0393808; MONDO:0010549","Xref__c":"C129068"},{"URL__c":"https://www.omim.org/entry/302800","Source__c":"C0393808; MONDO:0010549; ORPHA:101075","Xref__c":"OMIM:302800"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0393808","Source__c":"C0393808","Xref__c":"C0393808"},{"URL__c":"https://www.orpha.net/en/disease/detail/101075","Source__c":"C0393808; MONDO:0010549; ORPHA:101075","Xref__c":"ORPHA:101075"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010549","Source__c":"GARD:0001258","Xref__c":"MONDO:0010549"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GJB1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gjb1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:101075","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:101075","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Exaggerated anterior convexity of the thoracic vertebral column.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002808","HPO_Synonym__c":"Gibbus deformity; Hunched back; Hyperkyphosis; Round back","HPO_Name__c":"Kyphosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101075","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:101075","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001260","HPO_Synonym__c":"Difficulty articulating speech; Dysarthric speech","HPO_Name__c":"Dysarthria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101075","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101075","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A state of abnormally strong desire for sleep during the daytime.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001262","HPO_Synonym__c":"Excessive daytime sleepiness; More than typical sleepiness during day","HPO_Name__c":"Excessive daytime somnolence","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101075","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101075","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002463","HPO_Synonym__c":"Language disorder","HPO_Name__c":"Language impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101075","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Muscular atrophy of distal arm muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007149","HPO_Synonym__c":"Distal upper limb muscle atrophy","HPO_Name__c":"Distal upper limb amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101075","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement about a joint axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001337","HPO_Synonym__c":"Tremor; Tremors","HPO_Name__c":"Tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101075","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:101075","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001284","HPO_Synonym__c":"Absent deep tendon reflexes; Absent tendon reflexes; Deep tendon reflexes absent; Loss of deep tendon reflexes; Lost deep tendon reflexes","HPO_Name__c":"Areflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:101075","HPO_Frequency__c":"Frequent (30-79%)","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:101075","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:101075","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040129","HPO_Synonym__c":"Abnormal nerve conduction; Abnormal nerve conduction velocities; Nerve conduction abnormalities","HPO_Name__c":"Abnormal nerve conduction velocity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}},{"Provided_By__c":"ORPHA:101075","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Peripheral neuropathy affecting the sensory nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000763","HPO_Synonym__c":"Damage to nerves that sense feeling; Peripheral sensory neuropathy","HPO_Name__c":"Sensory neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Otolaryngology","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["charcot marie tooth disease x-linked 1"," charcot-marie-tooth disease type x caused by mutation in gjb1"," charcot-marie-tooth disease x-linked dominant type 1"," charcot-marie-tooth disease, x-linked dominant, 1"," charcot-marie-tooth disease, x-linked dominant, type 1"," charcot-marie-tooth disease, x-linked, 1"," charcot-marie-tooth neuropathy x type 1"," charcot-marie-tooth neuropathy x-linked dominant 1"," charcot-marie-tooth neuropathy, x-linked dominant, 1, x-linked dominant"," charcot-marie-tooth neuropathy, x-linked, 1"," charcot-marie-tooth peroneal muscular atrophy, x-linked"," cmt1x"," cmtx 1"," cmtx1"," gjb1 charcot-marie-tooth disease type x"," hereditary motor and sensory neuropathy, x-linked"," hmsn, x-linked"," x-linked charcot-marie-tooth disease type 1"]}