{"Name":"Charcot-Marie-Tooth disease dominant intermediate D","DiseaseID__c":"GARD:0009207","id":9207,"encodedName":"charcot-marie-tooth-disease-dominant-intermediate-d","IsDeleted":false,"Disease_Name_Full__c":"Charcot-Marie-Tooth disease dominant intermediate D","Xref_IDs__c":"765747004; C1843075; C564333; DOID:0110200; MEDGEN:334318; MONDO:0011909; OMIM:607791; ORPHA:100046","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0011909","Disease_Description__c":"A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.","GARD_Name__c":"Charcot-Marie-Tooth disease dominant intermediate D","GARD_Synonym__c":"autosomal dominant intermediate charcot-marie-tooth disease type d; charcot-marie-tooth disease caused by mutation in mpz; charcot-marie-tooth disease dominant intermediate 3; charcot-marie-tooth disease dominant intermediate type d; charcot-marie-tooth disease, dominant intermediate type d; charcot-marie-tooth neuropathy dominant intermediate d; charcot-marie-tooth neuropathy, dominant intermediate d; cmt di3; cmtdid; di-cmtd; mpz charcot-marie-tooth disease; mpz-related intermediate charcot-marie-tooth neuropathy","Curated_Disease_Description_Source__c":"MONDO:0011909","Curated_Disease_Description__c":"A rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Adult","SourceID__c":"ORPHA:100046","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0011909","ORPHANET_ID__c":"ORPHA:100046","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth intermedia autosómica dominante tipo d","Spanish_Description_Source__c":"ORPHA:100046","Spanish_Description__c":"Es una neuropatía hereditaria sentitivo-motora poco frecuente caracterizada por velocidades de conducción intermedias del nervio mediano (generalmente entre 25 y 45 m/s) y signos de degeneración axonal y desmielinización sin formación de \"bulbos de cebolla\" en biopsias de nervio. Presenta los hallazgos clínicos habituales de la enfermedad de Charcot-Marie-Tooth de gravedad variable (debilidad muscular progresiva y atrofia en las extremidades distales, pérdida de sensibilidad distal, reflejos osteotendinosos reducidos o ausentes, y deformidades de los pies). En algunas familias se incluyen otros hallazgos, tales como dolor neuropático debilitante y leve temblor postural / cinético en las extremidades superiores.","Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth intermedia autosómica dominante tipo d","Spanish_GARD_Synonym__c":"cmtdid","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 hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.","Curated_Disease_Description_Source__c":"MONDO:0011909","GARD_Synonym__c":"autosomal dominant intermediate charcot-marie-tooth disease type d; charcot-marie-tooth disease caused by mutation in mpz; charcot-marie-tooth disease dominant intermediate 3; charcot-marie-tooth disease dominant intermediate type d; charcot-marie-tooth disease, dominant intermediate type d; charcot-marie-tooth neuropathy dominant intermediate d; charcot-marie-tooth neuropathy, dominant intermediate d; cmt di3; cmtdid; di-cmtd; mpz charcot-marie-tooth disease; mpz-related intermediate charcot-marie-tooth neuropathy","Name":"Charcot-Marie-Tooth disease dominant intermediate D","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"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"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:100046"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1843075"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=765747004","Source__c":"C1843075; MONDO:0011909","Xref__c":"765747004"},{"URL__c":"https://www.omim.org/entry/607791","Source__c":"C1843075; MONDO:0011909; ORPHA:100046","Xref__c":"OMIM:607791"},{"URL__c":"https://www.orpha.net/en/disease/detail/100046","Source__c":"C1843075; MONDO:0011909; ORPHA:100046","Xref__c":"ORPHA:100046"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110200","Source__c":"MONDO:0011909","Xref__c":"DOID:0110200"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1843075","Source__c":"C1843075","Xref__c":"C1843075"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564333","Source__c":"MONDO:0011909","Xref__c":"C564333"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=334318","Source__c":"C1843075","Xref__c":"MEDGEN:334318"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011909","Source__c":"GARD:0009207","Xref__c":"MONDO:0011909"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"MPZ","GHR_URL__c":"https://medlineplus.gov/genetics/gene/mpz","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:607791","Feature__r":{"HPO_Description__c":"A segmental pattern of demyelination and regeneration (remyelination) affecting peripheral nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003481","HPO_Synonym__c":"Segmental demyelination/remyelination","HPO_Name__c":"Segmental peripheral demyelination/remyelination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607791","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:607791","Feature__r":{"HPO_Description__c":"A pattern of simultaneous degeneration and regeneration of axons (see comment).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003378","HPO_Synonym__c":"Axon degeneration and regeneration","HPO_Name__c":"Axonal degeneration/regeneration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:607791","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:607791","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:607791","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:607791","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:607791","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine"],"Account":["Peripheral Neuropathy"]},"synonyms":["autosomal dominant intermediate charcot-marie-tooth disease type d"," charcot-marie-tooth disease caused by mutation in mpz"," charcot-marie-tooth disease dominant intermediate 3"," charcot-marie-tooth disease dominant intermediate type d"," charcot-marie-tooth disease, dominant intermediate type d"," charcot-marie-tooth neuropathy dominant intermediate d"," charcot-marie-tooth neuropathy, dominant intermediate d"," cmt di3"," cmtdid"," di-cmtd"," mpz charcot-marie-tooth disease"," mpz-related intermediate charcot-marie-tooth neuropathy"]}