{"Name":"Charcot-Marie-Tooth disease dominant intermediate F","DiseaseID__c":"GARD:0009206","id":9206,"encodedName":"charcot-marie-tooth-disease-dominant-intermediate-f","IsDeleted":false,"Disease_Name_Full__c":"Charcot-Marie-Tooth disease dominant intermediate F","Xref_IDs__c":"C4749463; DOID:0110206; MEDGEN:1666273; MONDO:0014074; OMIM:615185; ORPHA:352670","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:0014074","Disease_Description__c":"A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range.","GARD_Name__c":"Charcot-Marie-Tooth disease dominant intermediate F","GARD_Synonym__c":"autosomal dominant intermediate charcot-marie-tooth disease type f; charcot-marie-tooth disease dominant intermediate type f; charcot-marie-tooth disease, dominant intermediate type f; cmtdif","Curated_Disease_Description_Source__c":"ORPHA:352670","Curated_Disease_Description__c":"A rare hereditary motor and sensory neuropathy disorder characterized by the typical Charcot-Marie-Tooth phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"at any time in life","SourceID__c":"ORPHA:352670","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014074","ORPHANET_ID__c":"ORPHA:352670","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth intermedia autosómica dominante tipo f","Spanish_Description_Source__c":"ORPHA:352670","Spanish_Description__c":"Es una neuropatía sensitivo-motora, hereditaria y poco frecuente, caracterizada por el fenotipo típico de la enfermedad de Charcot-Marie-Tooth (CMT) (atrofia muscular distal lentamente progresiva y debilidad en los miembros superiores e inferiores, déficit sensitivo distal en las extremidades, reflejos osteotendinosos reducidos o ausentes y malformaciones del pie). Las biopsias de nervio muestran desmielinización y cambios axonales, y las velocidades de conducción nerviosa varían en el rango de desmielinización a axonal.","Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth intermedia autosómica dominante tipo f","Spanish_GARD_Synonym__c":"cmtdif","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 disorder characterized by the typical Charcot-Marie-Tooth phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range.","Curated_Disease_Description_Source__c":"ORPHA:352670","GARD_Synonym__c":"autosomal dominant intermediate charcot-marie-tooth disease type f; charcot-marie-tooth disease dominant intermediate type f; charcot-marie-tooth disease, dominant intermediate type f; cmtdif","Name":"Charcot-Marie-Tooth disease dominant intermediate F","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"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"All ages","Provided_By__c":"ORPHA:352670"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3554654"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1666273","Source__c":"C4749463","Xref__c":"MEDGEN:1666273"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749463","Source__c":"C4749463","Xref__c":"C4749463"},{"URL__c":"https://www.omim.org/entry/615185","Source__c":"C4749463; MONDO:0014074; ORPHA:352670","Xref__c":"OMIM:615185"},{"URL__c":"https://www.orpha.net/en/disease/detail/352670","Source__c":"C4749463; MONDO:0014074; ORPHA:352670","Xref__c":"ORPHA:352670"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110206","Source__c":"MONDO:0014074","Xref__c":"DOID:0110206"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014074","Source__c":"GARD:0009206","Xref__c":"MONDO:0014074"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770759001","Source__c":"C4749463","Xref__c":"770759001"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GNB4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:615185","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of the Achilles reflex (also known as the ankle jerk reflex), which can normally be elicited by tapping the tendon is tapped while the foot is dorsiflexed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003438","HPO_Synonym__c":"Absent ankle reflexes","HPO_Name__c":"Absent Achilles reflex","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615185","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A loss of myelin from the internode regions along myelinated nerve fibers of the peripheral nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011096","HPO_Synonym__c":"Demyelination","HPO_Name__c":"Peripheral demyelination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615185","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:615185","Feature__r":{"HPO_Description__c":"The presence of axonal regeneration following a previous axonal lesion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003450","HPO_Synonym__c":"Regenerative activity on nerve biopsy","HPO_Name__c":"Axonal regeneration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615185","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":"OMIM:615185","HPO_Frequency__c":"Frequent (30-79%)","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:615185","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:615185","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002495","HPO_Synonym__c":"Decreased vibration sense; Decreased vibratory sense; Diminished vibratory sense; Hypopallesthesia; Impaired vibratory sensation; Impaired vibratory sense","HPO_Name__c":"Impaired vibratory sensation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615185","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced strength of the distal musculature of the arms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008959","HPO_Name__c":"Distal upper limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615185","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Absence of the knee jerk reflex, which can normally be elicited by tapping the patellar tendon with a reflex hammer just below the patella.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006844","HPO_Synonym__c":"Absent knee jerk reflex","HPO_Name__c":"Absent patellar reflexes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615185","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":"OMIM:615185","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduced strength of the distal musculature of the legs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009053","HPO_Synonym__c":"Distal muscle weakness in lower limbs; Muscle weakness, lower limb, distal","HPO_Name__c":"Distal lower limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:615185","HPO_Frequency__c":"Very frequent (80-99%)","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:615185","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:615185","HPO_Frequency__c":"Occasional (5-29%)","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":"OMIM:615185","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001765","HPO_Synonym__c":"Hammer toe; Hammertoe; Hammertoes","HPO_Name__c":"Hammertoe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neuromuscular medicine","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["autosomal dominant intermediate charcot-marie-tooth disease type f"," charcot-marie-tooth disease dominant intermediate type f"," charcot-marie-tooth disease, dominant intermediate type f"," cmtdif"]}