{"Name":"Charcot-Marie-Tooth disease axonal type 2S","DiseaseID__c":"GARD:0017751","id":17751,"encodedName":"charcot-marie-tooth-disease-axonal-type-2s","IsDeleted":false,"Disease_Name_Full__c":"Charcot-Marie-Tooth disease axonal type 2S","Xref_IDs__c":"C4015349; DOID:0110171; MEDGEN:863786; MONDO:0014511; OMIM:616155; ORPHA:443073","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":4,"Description_Source__c":"MONDO:0014511","Disease_Description__c":"Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene.","GARD_Name__c":"Charcot-Marie-Tooth disease axonal type 2S","GARD_Synonym__c":"autosomal recessive axonal charcot-marie-tooth type 2s; charcot-marie-tooth disease caused by mutation in ighmbp2; charcot-marie-tooth disease type 2s; charcot-marie-tooth disease, axonal, autosomal recessive, type 2s; charcot-marie-tooth neuropathy type 2s; charcot-marie-tooth neuropathy, type 2s; cmt2s; ighmbp2 charcot-marie-tooth disease","Curated_Disease_Description_Source__c":"ORPHA:443073","Curated_Disease_Description__c":"A rare subtype of axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of both the lower and upper limbs, absent or reduced deep tendon reflexes, mild sensory loss, foot drop, and pes cavus leading eventually to wheelchair dependance. Some patients present with early hypotonia and delayed motor development. Scoliosis and variable autonomic disturbances may be associated.","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:443073","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014511","ORPHANET_ID__c":"ORPHA:443073","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth tipo 2s","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth tipo 2s","Spanish_GARD_Synonym__c":"cmt2s","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 subtype of axonal hereditary motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy of both the lower and upper limbs, absent or reduced deep tendon reflexes, mild sensory loss, foot drop, and pes cavus leading eventually to wheelchair dependance. Some patients present with early hypotonia and delayed motor development. Scoliosis and variable autonomic disturbances may be associated.","Curated_Disease_Description_Source__c":"ORPHA:443073","GARD_Synonym__c":"autosomal recessive axonal charcot-marie-tooth type 2s; charcot-marie-tooth disease caused by mutation in ighmbp2; charcot-marie-tooth disease type 2s; charcot-marie-tooth disease, axonal, autosomal recessive, type 2s; charcot-marie-tooth neuropathy type 2s; charcot-marie-tooth neuropathy, type 2s; cmt2s; ighmbp2 charcot-marie-tooth disease","Name":"Charcot-Marie-Tooth disease axonal type 2S","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"SmashSMARD","Website__c":"https://www.smashsmard.org/"},{"Account_Name__c":"CMT Research Foundation","Website__c":"https://cmtrf.org/"},{"Account_Name__c":"Muscular Dystrophy Canada","Website__c":"https://muscle.ca/"}],"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:443073"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:443073"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:443073"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:443073"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4015349","Source__c":"C4015349","Xref__c":"C4015349"},{"URL__c":"https://www.omim.org/entry/616155","Source__c":"C4015349; MONDO:0014511; ORPHA:443073","Xref__c":"OMIM:616155"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=863786","Source__c":"C4015349","Xref__c":"MEDGEN:863786"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110171","Source__c":"MONDO:0014511","Xref__c":"DOID:0110171"},{"URL__c":"https://www.orpha.net/en/disease/detail/443073","Source__c":"C4015349; MONDO:0014511; ORPHA:443073","Xref__c":"ORPHA:443073"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014511","Source__c":"GARD:0017751","Xref__c":"MONDO:0014511"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1187617004","Source__c":"C4015349","Xref__c":"1187617004"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"IGHMBP2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ighmbp2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:616155","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:616155","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":"OMIM:616155","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A lack of strength of the proximal muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003701","HPO_Synonym__c":"Muscle weakness, proximal; Proximal limb muscle weakness; Proximal limb weakness; Weakness in muscles of upper arms and upper legs","HPO_Name__c":"Proximal muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616155","HPO_Frequency__c":"Very frequent (80-99%)","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"}},{"Provided_By__c":"OMIM:616155","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Wasting of the tongue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012473","HPO_Synonym__c":"Atrophy of the tongue; Lingual atrophy; Lingual wasting; Wasting of the tongue","HPO_Name__c":"Tongue atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616155","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:616155","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":"OMIM:616155","HPO_Frequency__c":"Frequent (30-79%)","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:616155","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:616155","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inability to elicit tendon reflexes in the upper limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012046","HPO_Name__c":"Areflexia of upper limbs","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616155","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040078","HPO_Name__c":"Axonal degeneration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:616155","HPO_Frequency__c":"Occasional (5-29%)","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":"OMIM:616155","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:616155","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":"OMIM:616155","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inability to elicit tendon reflexes in the lower limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002522","HPO_Synonym__c":"Absent lower limb tendon reflexes; Areflexia in lower limbs; Areflexia of the lower limbs; Areflexia, lower limbs","HPO_Name__c":"Areflexia of lower limbs","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 recessive axonal charcot-marie-tooth type 2s"," charcot-marie-tooth disease caused by mutation in ighmbp2"," charcot-marie-tooth disease type 2s"," charcot-marie-tooth disease, axonal, autosomal recessive, type 2s"," charcot-marie-tooth neuropathy type 2s"," charcot-marie-tooth neuropathy, type 2s"," cmt2s"," ighmbp2 charcot-marie-tooth disease"]}