Human Phenotype Ontology 
Grandparent Node:
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Abnormal muscle physiology (HP:0011804)help
Parent Node:
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EMG abnormality (HP:0003457)help
..Starting node
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EMG: axonal abnormality (HP:0003482)help
Term ID: 3482
Name: EMG: axonal abnormality
Synonym:
Definition: Electromyographic (EMG) findings characteristic of axonal neuropathy, with normal or slightly decreased nerve conduction velocities, normal or slightly prolonged distal latencies, but significantly reduced motor potentials and sensory amplitudes. There may be spontaneous activity upon needle EMG studies, such as increased insertional activity, positive sharp waves, and fibrillation potentials.
Comments:
Reference: HP:0003482
Genes and Diseases:
 
       Child Nodes:
........expandEMG: positive sharp waves (HP:0030007) help

 Sister Nodes: 
..expandEMG: continuous motor unit activity at rest (HP:0100283) help
..expandEMG: impaired neuromuscular transmission (HP:0100285) help
..expandEMG: myokymic discharges (HP:0100288) help
..expandEMG: myopathic abnormalities (HP:0003458) help
..expandEMG: myotonic discharges (HP:0100284) help
..expandEMG: neuropathic changes (HP:0003445) help
..expandEMG: repetitive nerve stimulation abnormality (HP:0030000) help
..expandEMG: slow motor conduction (HP:0100287) help
..expandSingle fiber EMG abnormality (HP:0030006) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003482HP:0003482EMG: axonal abnormality0ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12HP:0040282 - Frequent304
HP:0003482HP:0003482EMG: axonal abnormality0ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0003482HP:0003482EMG: axonal abnormality0ATP13A2 CL E G H2340030213ORPHA:513436Autosomal recessive spastic paraplegia type 78HP:0040281 - Very frequent100
HP:0003482HP:0003482EMG: axonal abnormality0CYP27A1 CL E G H15932605OMIM:213700Cerebrotendinous xanthomatosis114
HP:0003482HP:0003482EMG: axonal abnormality0DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0003482HP:0003482EMG: axonal abnormality0GNE CL E G H1002023657ORPHA:602GNE myopathy173
HP:0003482HP:0003482EMG: axonal abnormality0LMNA CL E G H40006636ORPHA:98856Charcot-Marie-Tooth disease type 2B1645
HP:0003482HP:0003482EMG: axonal abnormality0MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0003482HP:0003482EMG: axonal abnormality0NR4A2 CL E G H49297981OMIM:61991127
HP:0003482HP:0003482EMG: axonal abnormality0OPTN CL E G H1013317142OMIM:613435Amyotrophic lateral sclerosis 1262
HP:0003482HP:0003482EMG: axonal abnormality0PDK3 CL E G H51658811ORPHA:352675X-linked Charcot-Marie-Tooth disease type 6HP:0040281 - Very frequent4
HP:0003482HP:0003482EMG: axonal abnormality0SETX CL E G H23064445OMIM:602433Amyotrophic lateral sclerosis 4, juvenile162
HP:0003482HP:0003482EMG: axonal abnormality0SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R583
HP:0003482HP:0003482EMG: axonal abnormality0SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11HP:0040282 - Frequent287
HP:0003482HP:0003482EMG: axonal abnormality0TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa type18
HP:0003482HP:0030007EMG: positive sharp waves1ANXA11 CL E G H311535OMIM:619733INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES; IBMWMA
HP:0003482HP:0030007EMG: positive sharp waves1DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant167
HP:0003482HP:0030007EMG: positive sharp waves1GNE CL E G H1002023657ORPHA:602GNE myopathyHP:0040282 - Frequent173
HP:0003482HP:0030007EMG: positive sharp waves1MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant7
HP:0003482HP:0030007EMG: positive sharp waves1NR4A2 CL E G H49297981OMIM:61991127
HP:0003482HP:0030007EMG: positive sharp waves1OPTN CL E G H1013317142OMIM:613435Amyotrophic lateral sclerosis 1262
HP:0003482HP:0030007EMG: positive sharp waves1SETX CL E G H23064445OMIM:602433Amyotrophic lateral sclerosis 4, juvenile162
HP:0003482HP:0030007EMG: positive sharp waves1SGCG CL E G H644510809ORPHA:353Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5HP:0040282 - Frequent83
HP:0003482HP:0030007EMG: positive sharp waves1TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa typeHP:0040282 - Frequent18


Genes (15) :ANO5 ANXA11 ATP13A2 CYP27A1 DNM2 GNE LMNA MTMR14 NR4A2 OPTN PDK3 SETX SGCG SPG11 TFG

Diseases (14) :ORPHA:206549 OMIM:619733 ORPHA:513436 OMIM:213700 OMIM:160150 ORPHA:602 ORPHA:98856 OMIM:619911 OMIM:613435 ORPHA:352675 OMIM:602433 ORPHA:353 ORPHA:2822 ORPHA:90117
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.