{"Name":"Charcot-Marie-Tooth disease dominant intermediate E","DiseaseID__c":"GARD:0012011","id":12011,"encodedName":"charcot-marie-tooth-disease-dominant-intermediate-e","IsDeleted":false,"Disease_Name_Full__c":"Charcot-Marie-Tooth disease dominant intermediate E","Xref_IDs__c":"722294004; C4302667; DOID:0110205; MEDGEN:928336; MONDO:0013758; OMIM:614455; ORPHA:93114","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":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0013758","Disease_Description__c":"A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle weakness and atrophy in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). Mild or moderate sensorineural hearing loss may also be associated. Nerve biopsy reveals both axonal and demyelinating changes and nerve conduction velocities vary from the demyelinating to axonal range (typically between 25-50m/sec).","GARD_Name__c":"Charcot-Marie-Tooth disease dominant intermediate E","GARD_Synonym__c":"autosomal dominant intermediate charcot-marie-tooth disease type e; charcot-marie-tooth disease dominant intermediate type e; charcot-marie-tooth disease with nephropathy syndrome; charcot-marie-tooth disease-nephropathy syndrome; charcot-marie-tooth disease, dominant intermediate type e; charcot-marie-tooth neuropathy with focal segmental glomerulonephritis; cmtdie","Curated_Disease_Description_Source__c":"MONDO:0013758","Curated_Disease_Description__c":"A rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle weakness and atrophy in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). Mild or moderate sensorineural hearing loss may also be associated. Nerve biopsy reveals both axonal and demyelinating changes and nerve conduction velocities vary from the demyelinating to axonal range (typically between 25-50m/sec).","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:93114","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013758","ORPHANET_ID__c":"ORPHA:93114","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad de charcot-marie-tooth intermedia autosómica dominante tipo e","Spanish_Description_Source__c":"ORPHA:93114","Spanish_Description__c":"Es un trastorno neuropático sensitivo-motor, hereditario y poco frecuente, caracterizado por el fenotipo típico de CMT (debilidad muscular distal lentamente progresiva y atrofia de miembros superiores e inferiores, pérdida distal de sensibilidad en extremidades, reflejos tendinosos profundos ausentes o reducidos, y malformaciones en el pie) asociado a glomeruloesclerosis focal segmentaria (que se manifiesta con proteinuria y progresión a enfermedad renal terminal). También se puede asociar pérdida auditiva neurosensorial leve o moderada. La biopsia nerviosa revela cambios tanto axonales como desmielinizantes, y las velocidades de conducción nerviosa varían desde el rango desmielinizante hasta el axonal (por lo general entre 25 y 50 m/s).","Spanish_Disease_Name__c":"enfermedad de charcot-marie-tooth intermedia autosómica dominante tipo e","Spanish_GARD_Synonym__c":"cmtdie; enfermedad de charcot-marie-tooth-nefropatía","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 CMT phenotype (slowly progressive distal muscle weakness and atrophy in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) associated with focal segmental glomerulosclerosis (manifesting with proteinuria and progression to end-stage renal disease). Mild or moderate sensorineural hearing loss may also be associated. Nerve biopsy reveals both axonal and demyelinating changes and nerve conduction velocities vary from the demyelinating to axonal range (typically between 25-50m/sec).","Curated_Disease_Description_Source__c":"MONDO:0013758","GARD_Synonym__c":"autosomal dominant intermediate charcot-marie-tooth disease type e; charcot-marie-tooth disease dominant intermediate type e; charcot-marie-tooth disease with nephropathy syndrome; charcot-marie-tooth disease-nephropathy syndrome; charcot-marie-tooth disease, dominant intermediate type e; charcot-marie-tooth neuropathy with focal segmental glomerulonephritis; cmtdie","Name":"Charcot-Marie-Tooth disease dominant intermediate E","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 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":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney 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":"No data available","Provided_By__c":"ORPHA:93114"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C3280845"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/93114","Source__c":"C4302667; MONDO:0013758; ORPHA:93114","Xref__c":"ORPHA:93114"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722294004","Source__c":"C4302667; MONDO:0013758","Xref__c":"722294004"},{"URL__c":"https://www.omim.org/entry/614455","Source__c":"C4302667; MONDO:0013758; ORPHA:93114","Xref__c":"OMIM:614455"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4302667","Source__c":"C4302667","Xref__c":"C4302667"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110205","Source__c":"MONDO:0013758","Xref__c":"DOID:0110205"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=928336","Source__c":"C4302667","Xref__c":"MEDGEN:928336"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013758","Source__c":"GARD:0012011","Xref__c":"MONDO:0013758"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"INF2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:614455","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:614455","Feature__r":{"HPO_Description__c":"Segmental accumulation of scar tissue in individual (but not all) glomeruli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000097","HPO_Synonym__c":"Focal and segmental glomerular sclerosis; Focal and segmental glomerulosclerosis; focal glomerulosclerosis","HPO_Name__c":"Focal segmental glomerulosclerosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614455","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"}},{"Provided_By__c":"OMIM:614455","HPO_Frequency__c":"Very frequent (80-99%)","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:614455","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:614455","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:614455","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased levels of protein in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000093","HPO_Synonym__c":"High urine protein levels; Protein in urine","HPO_Name__c":"Proteinuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:614455","HPO_Frequency__c":"Very frequent (80-99%)","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:614455","HPO_Frequency__c":"Very frequent (80-99%)","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:614455","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003236","HPO_Synonym__c":"Elevated blood creatine phosphokinase; Elevated circulating creatine phosphokinase; Elevated creatine kinase; Elevated serum CPK; Elevated serum creatine kinase; Elevated serum creatine phosphokinase; High serum creatine kinase; Increased CPK; Increased creatine kinase; Increased creatine phosphokinase; Increased serum CK; Increased serum creatine kinase; Increased serum creatine phosphokinase","HPO_Name__c":"Elevated circulating creatine kinase concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:614455","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:614455","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:614455","HPO_Frequency__c":"Very frequent (80-99%)","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:614455","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:614455","Feature__r":{"HPO_Description__c":"An abnormality of the hand characterized by metacarpophalangeal (MCP) hyperextension and proximal interphalangeal (PIP) and distal interphalangeal (DIP) flexion. The position of the affected hand is said to resemble a claw.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034337","HPO_Name__c":"Claw hand deformity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614455","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:614455","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in the number of axons in the peripheral nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003447","HPO_Name__c":"Axonal loss","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614455","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A degree of kidney failure severe enough to require dialysis or kidney transplantation for survival characterized by a severe reduction in glomerular filtration rate (less than 15 ml/min/1.73 m2) and other manifestations including increased serum creatinine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003774","HPO_Synonym__c":"Chronic renal failure; End stage renal disease; End stage renal failure; End-stage renal disease; End-stage renal failure; Stage 5 chronic kidney disease","HPO_Name__c":"Stage 5 chronic kidney disease","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:614455","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Nephrology"],"Specialist":["Genetics","Neurology","Nephrology","Neuromuscular medicine"],"Account":["Nephrology","Peripheral Neuropathy"]},"synonyms":["autosomal dominant intermediate charcot-marie-tooth disease type e"," charcot-marie-tooth disease dominant intermediate type e"," charcot-marie-tooth disease with nephropathy syndrome"," charcot-marie-tooth disease-nephropathy syndrome"," charcot-marie-tooth disease, dominant intermediate type e"," charcot-marie-tooth neuropathy with focal segmental glomerulonephritis"," cmtdie"]}