{"Name":"Charcot-Marie-Tooth disease recessive intermediate D","DiseaseID__c":"GARD:0017723","id":17723,"encodedName":"charcot-marie-tooth-disease-recessive-intermediate-d","IsDeleted":false,"Disease_Name_Full__c":"Charcot-Marie-Tooth disease recessive intermediate D","Xref_IDs__c":"C5569027; DOID:0110203; MEDGEN:1800450; MONDO:0014467; OMIM:616039; ORPHA:435998","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":1,"Description_Source__c":"MONDO:0014467","Disease_Description__c":"Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene.","GARD_Name__c":"Charcot-Marie-Tooth disease recessive intermediate D","GARD_Synonym__c":"autosomal recessive intermediate charcot-marie-tooth disease type d; charcot-marie-tooth disease caused by mutation in cox6a1; charcot-marie-tooth disease recessive intermediate type d; charcot-marie-tooth disease, recessive intermediate type d; cmtrid; cox6a1 charcot-marie-tooth disease; ri-cmt type d","Curated_Disease_Description_Source__c":"ORPHA:435998","Curated_Disease_Description__c":"Autosomal recessive intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by childhood onset of unsteady gait, pes cavus, frequent falls and foot dorsiflexor weakness slowly progressing to distal upper and lower limb muscle weakness and atrophy, distal sensory impairment and reduced tendon reflexes. Additional symptoms may include bilateral sensorineural hearing impairment and neuropathic pain.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:435998","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014467","ORPHANET_ID__c":"ORPHA:435998","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth intermedia autosómica recesiva tipo d","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth intermedia autosómica recesiva tipo d","Spanish_GARD_Synonym__c":"cmt-ir tipo d","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":"Autosomal recessive intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by childhood onset of unsteady gait, pes cavus, frequent falls and foot dorsiflexor weakness slowly progressing to distal upper and lower limb muscle weakness and atrophy, distal sensory impairment and reduced tendon reflexes. Additional symptoms may include bilateral sensorineural hearing impairment and neuropathic pain.","Curated_Disease_Description_Source__c":"ORPHA:435998","GARD_Synonym__c":"autosomal recessive intermediate charcot-marie-tooth disease type d; charcot-marie-tooth disease caused by mutation in cox6a1; charcot-marie-tooth disease recessive intermediate type d; charcot-marie-tooth disease, recessive intermediate type d; cmtrid; cox6a1 charcot-marie-tooth disease; ri-cmt type d","Name":"Charcot-Marie-Tooth disease recessive intermediate D","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Charcot-Marie-Tooth Association","Website__c":"https://www.cmtausa.org/"}],"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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Mitochondrial","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Mitochondrial diseases are a group of genetic diseases that affect the ability of the body's cells to make energy.","curated_tag_name":"Mitochondrial 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:435998"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5569027","Source__c":"C5569027","Xref__c":"C5569027"},{"URL__c":"https://www.orpha.net/en/disease/detail/435998","Source__c":"C5569027; MONDO:0014467; ORPHA:435998","Xref__c":"ORPHA:435998"},{"URL__c":"https://www.omim.org/entry/616039","Source__c":"C5569027; MONDO:0014467; ORPHA:435998","Xref__c":"OMIM:616039"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1800450","Source__c":"C5569027","Xref__c":"MEDGEN:1800450"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110203","Source__c":"MONDO:0014467","Xref__c":"DOID:0110203"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014467","Source__c":"GARD:0017723","Xref__c":"MONDO:0014467"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=1187567002","Source__c":"C5569027","Xref__c":"1187567002"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"COX6A1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:616039","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:616039","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:616039","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:616039","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:616039","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:616039","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:616039","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:616039","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Mitochondrial","Peripheral Neuropathy"]},"synonyms":["autosomal recessive intermediate charcot-marie-tooth disease type d"," charcot-marie-tooth disease caused by mutation in cox6a1"," charcot-marie-tooth disease recessive intermediate type d"," charcot-marie-tooth disease, recessive intermediate type d"," cmtrid"," cox6a1 charcot-marie-tooth disease"," ri-cmt type d"]}