{"Name":"Charcot-Marie-Tooth disease recessive intermediate B","DiseaseID__c":"GARD:0012454","id":12454,"encodedName":"charcot-marie-tooth-disease-recessive-intermediate-b","IsDeleted":false,"Disease_Name_Full__c":"Charcot-Marie-Tooth disease recessive intermediate B","Xref_IDs__c":"C3150897; DOID:0110204; MEDGEN:462247; MONDO:0013338; OMIM:613641; ORPHA:254334","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":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0013338","Disease_Description__c":"A rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.","GARD_Name__c":"Charcot-Marie-Tooth disease recessive intermediate B","GARD_Synonym__c":"autosomal recessive intermediate charcot-marie-tooth disease type b; charcot-marie-tooth disease caused by mutation in kars; charcot-marie-tooth disease recessive intermediate type b; charcot-marie-tooth disease, recessive intermediate type b; charcot-marie-tooth neuropathy recessive intermediate b; charcot-marie-tooth neuropathy, recessive intermediate b; cmtrib; kars charcot-marie-tooth disease; kars-related intermediate charcot-marie-tooth neuropathy; ri-cmt type b; ri-cmtb","Curated_Disease_Description_Source__c":"ORPHA:254334","Curated_Disease_Description__c":"An extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:254334","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013338","ORPHANET_ID__c":"ORPHA:254334","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth intermedia autosómica recesiva tipo b","Spanish_Description_Source__c":"ORPHA:254334","Spanish_Description__c":"Es un subtipo muy poco frecuente de la enfermedad de Charcot-Marie-Tooth (CMT) intermedia autosómica recesiva caracterizada por retraso psicomotor, conducta autolesiva, características dismórficas y schwannoma vestibular. Las velocidades de conducción nerviosa motora muestran características tanto de patología desmielinizante como axonal.","Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth intermedia autosómica recesiva tipo b","Spanish_GARD_Synonym__c":"ri-cmt tipo b","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":"An extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology.","Curated_Disease_Description_Source__c":"ORPHA:254334","GARD_Synonym__c":"autosomal recessive intermediate charcot-marie-tooth disease type b; charcot-marie-tooth disease caused by mutation in kars; charcot-marie-tooth disease recessive intermediate type b; charcot-marie-tooth disease, recessive intermediate type b; charcot-marie-tooth neuropathy recessive intermediate b; charcot-marie-tooth neuropathy, recessive intermediate b; cmtrib; kars charcot-marie-tooth disease; kars-related intermediate charcot-marie-tooth neuropathy; ri-cmt type b; ri-cmtb","Name":"Charcot-Marie-Tooth disease recessive intermediate B","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"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":"Infancy","Provided_By__c":"ORPHA:254334"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:254334"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3150897"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/254334","Source__c":"C3150897; MONDO:0013338","Xref__c":"ORPHA:254334"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3150897","Source__c":"C3150897","Xref__c":"C3150897"},{"URL__c":"https://www.omim.org/entry/613641","Source__c":"C3150897; MONDO:0013338; ORPHA:254334","Xref__c":"OMIM:613641"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110204","Source__c":"MONDO:0013338","Xref__c":"DOID:0110204"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=462247","Source__c":"C3150897","Xref__c":"MEDGEN:462247"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013338","Source__c":"GARD:0012454","Xref__c":"MONDO:0013338"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"KARS1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:613641","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:613641","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613641","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A vestibular schwannoma (also known as acoustic neuroma, acoustic neurinoma, or acoustic neurilemoma) is a benign, usually slow-growing tumor that develops from the VIIIth cranial nerve supplying the inner ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009588","HPO_Synonym__c":"Acoustic Neuroma; Vestibular neurilemmoma; Vestibular neurinoma; Vestibular neurolemmoma; Vestibular Schwann cell tumor","HPO_Name__c":"Vestibular schwannoma","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613641","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:613641","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Self-aggression.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100716","HPO_Synonym__c":"Autoagression; Self injury; Self-harm; Self-injurious behavior; Self-injurious behaviors","HPO_Name__c":"Self-injurious behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:613641","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":"OMIM:613641","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:613641","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:613641","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"}},{"Provided_By__c":"OMIM:613641","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced level of the compound muscle action potential (CMAP), which is recorded following electrical stimulation of a nerve from surface electrodes overlying a muscle supplied by that nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033383","HPO_Synonym__c":"Decreased CMAP amplitude","HPO_Name__c":"Decreased compound muscle action potential amplitude","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["autosomal recessive intermediate charcot-marie-tooth disease type b"," charcot-marie-tooth disease caused by mutation in kars"," charcot-marie-tooth disease recessive intermediate type b"," charcot-marie-tooth disease, recessive intermediate type b"," charcot-marie-tooth neuropathy recessive intermediate b"," charcot-marie-tooth neuropathy, recessive intermediate b"," cmtrib"," kars charcot-marie-tooth disease"," kars-related intermediate charcot-marie-tooth neuropathy"," ri-cmt type b"," ri-cmtb"]}