Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal muscle physiology (HP:0011804)help
Parent Node:
expand
EMG abnormality (HP:0003457)help
..Starting node
..expand
EMG: neuropathic changes (HP:0003445)help
Term ID: 3445
Name: EMG: neuropathic changes
Synonym: EMG: neurogenic abnormalities; EMG: neurogenic changes; EMG: neurogenic findings
Definition: The presence of characteristic findings of denervation on electromyography (fibrillations, positive sharp waves, and giant motor unit potentials).
Comments:
Reference: HP:0003445
Genes and Diseases:
 
       Child Nodes:
........expandEMG: chronic denervation signs (HP:0003444) help

 Sister Nodes: 
..expandEMG: axonal abnormality (HP:0003482) help
..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: 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:0003445HP:0003445EMG: neuropathic changes0ACTA1 CL E G H58129OMIM:161800Nemaline myopathy 3.96
HP:0003445HP:0003445EMG: neuropathic changes0ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile114
HP:0003445HP:0003445EMG: neuropathic changes0ANO5 CL E G H20385927337ORPHA:206549Anoctamin-5-related limb-girdle muscular dystrophy R12HP:0040282 - Frequent304
HP:0003445HP:0003445EMG: neuropathic changes0ARSA CL E G H410713OMIM:250100Metachromatic leukodystrophy.253
HP:0003445HP:0003445EMG: neuropathic changes0ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult form253
HP:0003445HP:0003445EMG: neuropathic changes0ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile form253
HP:0003445HP:0003445EMG: neuropathic changes0ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile form253
HP:0003445HP:0003445EMG: neuropathic changes0ASAH1 CL E G H427735ORPHA:333Farber disease78
HP:0003445HP:0003445EMG: neuropathic changes0ATP7A CL E G H538869OMIM:300489Spinal muscular atrophy, distal, X-linked 3.192
HP:0003445HP:0003445EMG: neuropathic changes0CHCHD10 CL E G H40091615559ORPHA:276435Lower motor neuron syndrome with late-adult onsetHP:0040282 - Frequent11
HP:0003445HP:0003445EMG: neuropathic changes0COL25A1 CL E G H8457018603ORPHA:1143Neurogenic arthrogryposis multiplex congenita3
HP:0003445HP:0003445EMG: neuropathic changes0DCAF8 CL E G H5071724891OMIM:610100Giant axonal neuropathy, autosomal dominant2
HP:0003445HP:0003445EMG: neuropathic changes0DYNC1H1 CL E G H17782961OMIM:158600Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant.427
HP:0003445HP:0003445EMG: neuropathic changes0ERGIC1 CL E G H5722229205ORPHA:1143Neurogenic arthrogryposis multiplex congenita
HP:0003445HP:0003445EMG: neuropathic changes0FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID1
HP:0003445HP:0003445EMG: neuropathic changes0GBF1 CL E G H87294181OMIM:606483Charcot-Marie-Tooth disease, dominant intermediate A
HP:0003445HP:0003445EMG: neuropathic changes0GDAP1 CL E G H5433215968OMIM:608340Charcot-Marie-Tooth disease, recessive intermediate A.108
HP:0003445HP:0003445EMG: neuropathic changes0GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxiaHP:0040282 - Frequent107
HP:0003445HP:0003445EMG: neuropathic changes0HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotonia12
HP:0003445HP:0003445EMG: neuropathic changes0HNRNPA1 CL E G H31785031ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional31
HP:0003445HP:0003445EMG: neuropathic changes0HNRNPA2B1 CL E G H31815033ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional5
HP:0003445HP:0003445EMG: neuropathic changes0HSPB1 CL E G H33155246ORPHA:99940Autosomal dominant Charcot-Marie-Tooth disease type 2FHP:0040281 - Very frequent47
HP:0003445HP:0003445EMG: neuropathic changes0HSPB1 CL E G H33155246OMIM:608634Neuronopathy, distal hereditary motor, type IIB.47
HP:0003445HP:0003445EMG: neuropathic changes0HSPB3 CL E G H89885248OMIM:613376Neuronopathy, distal hereditary motor, type IIC.13
HP:0003445HP:0003445EMG: neuropathic changes0HSPB8 CL E G H2635330171OMIM:608673Charcot-Marie-Tooth disease, axonal, type 2L38
HP:0003445HP:0003445EMG: neuropathic changes0HSPB8 CL E G H2635330171OMIM:158590Neuronopathy, distal hereditary motor, type IIA.38
HP:0003445HP:0003445EMG: neuropathic changes0IBA57 CL E G H20020527302ORPHA:468661Autosomal recessive spastic paraplegia type 74HP:0040282 - Frequent16
HP:0003445HP:0003445EMG: neuropathic changes0IGHMBP2 CL E G H35085542OMIM:604320Spinal muscular atrophy, distal, autosomal recessive, 1.209
HP:0003445HP:0003445EMG: neuropathic changes0LDB3 CL E G H1115515710OMIM:609452Myopathy, myofibrillar, 4.286
HP:0003445HP:0003445EMG: neuropathic changes0MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2203
HP:0003445HP:0003445EMG: neuropathic changes0MPV17 CL E G H43587224OMIM:618400Charcot-Marie-Tooth disease, axonal, type 2EE56
HP:0003445HP:0003445EMG: neuropathic changes0MYH7 CL E G H46257577OMIM:160500Myopathy, distal, 1.1269
HP:0003445HP:0003445EMG: neuropathic changes0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive.745
HP:0003445HP:0003445EMG: neuropathic changes0NEFH CL E G H47447737OMIM:616924Charcot-Marie-Tooth disease, axonal, type 2CC24
HP:0003445HP:0003445EMG: neuropathic changes0NOP56 CL E G H1052815911OMIM:614153Spinocerebellar ataxia 369
HP:0003445HP:0003445EMG: neuropathic changes0OPA1 CL E G H49768140ORPHA:1215Autosomal dominant optic atrophy plus syndrome214
HP:0003445HP:0003445EMG: neuropathic changes0PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophy133
HP:0003445HP:0003445EMG: neuropathic changes0PLA2G6 CL E G H83989039OMIM:256600Neurodegeneration with brain iron accumulation 2A133
HP:0003445HP:0003445EMG: neuropathic changes0PLEKHG5 CL E G H5744929105OMIM:611067Spinal muscular atrophy, distal, autosomal recessive, 4.186
HP:0003445HP:0003445EMG: neuropathic changes0PMP22 CL E G H53769118ORPHA:98916Acute inflammatory demyelinating polyradiculoneuropathyHP:0040282 - Frequent79
HP:0003445HP:0003445EMG: neuropathic changes0PNPT1 CL E G H8717823166ORPHA:101111Spinocerebellar ataxia type 25HP:0040282 - Frequent60
HP:0003445HP:0003445EMG: neuropathic changes0PRPS1 CL E G H56319462ORPHA:1187Lethal ataxia with deafness and optic atrophy49
HP:0003445HP:0003445EMG: neuropathic changes0PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult form81
HP:0003445HP:0003445EMG: neuropathic changes0PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile form81
HP:0003445HP:0003445EMG: neuropathic changes0PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile form81
HP:0003445HP:0003445EMG: neuropathic changes0SCO2 CL E G H999710604ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect40
HP:0003445HP:0003445EMG: neuropathic changes0SCYL2 CL E G H5568119286ORPHA:1143Neurogenic arthrogryposis multiplex congenita
HP:0003445HP:0003445EMG: neuropathic changes0SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4C493
HP:0003445HP:0003445EMG: neuropathic changes0SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy163
HP:0003445HP:0003445EMG: neuropathic changes0SMN1 CL E G H660611117OMIM:253300Spinal muscular atrophy, type I.22
HP:0003445HP:0003445EMG: neuropathic changes0SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III22
HP:0003445HP:0003445EMG: neuropathic changes0SMN1 CL E G H660611117OMIM:271150Spinal muscular atrophy, type IV.22
HP:0003445HP:0003445EMG: neuropathic changes0SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III1
HP:0003445HP:0003445EMG: neuropathic changes0SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11HP:0040282 - Frequent287
HP:0003445HP:0003445EMG: neuropathic changes0SPG7 CL E G H668711237ORPHA:35689Primary lateral sclerosis171
HP:0003445HP:0003445EMG: neuropathic changes0SYNE1 CL E G H2334517089ORPHA:88644Autosomal recessive ataxia, Beauce typeHP:0040283 - Occasional1129
HP:0003445HP:0003445EMG: neuropathic changes0TBCE CL E G H690511582ORPHA:496756Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome52
HP:0003445HP:0003445EMG: neuropathic changes0TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndrome13
HP:0003445HP:0003445EMG: neuropathic changes0TPP1 CL E G H12002073ORPHA:284324Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxiaHP:0040283 - Occasional203
HP:0003445HP:0003445EMG: neuropathic changes0UBA1 CL E G H731712469ORPHA:1145Infantile-onset X-linked spinal muscular atrophyHP:0040281 - Very frequent35
HP:0003445HP:0003445EMG: neuropathic changes0VAPB CL E G H921712649OMIM:182980Spinal muscular atrophy, proximal, adult, autosomal dominantspinal muscular atrophy, late-onset, finkel type, included.116
HP:0003445HP:0003445EMG: neuropathic changes0VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0003445HP:0003445EMG: neuropathic changes0VCP CL E G H741512666ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional63
HP:0003445HP:0003445EMG: neuropathic changes0VCP CL E G H741512666ORPHA:329475Spastic paraplegia-Paget disease of bone syndromeHP:0040280 - Obligate63
HP:0003445HP:0003445EMG: neuropathic changes0VPS13A CL E G H232301908ORPHA:2388ChoreoacanthocytosisHP:0040282 - Frequent130
HP:0003445HP:0003445EMG: neuropathic changes0VRK1 CL E G H744312718OMIM:607596Pontocerebellar hypoplasia type 1A.32
HP:0003445HP:0003444EMG: chronic denervation signs1ALS2 CL E G H57679443OMIM:205100Amyotrophic lateral sclerosis 2, juvenile.114
HP:0003445HP:0003444EMG: chronic denervation signs1ARSA CL E G H410713ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040283 - Occasional253
HP:0003445HP:0003444EMG: chronic denervation signs1ARSA CL E G H410713ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040283 - Occasional253
HP:0003445HP:0003444EMG: chronic denervation signs1ARSA CL E G H410713ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040282 - Frequent253
HP:0003445HP:0003444EMG: chronic denervation signs1ASAH1 CL E G H427735ORPHA:333Farber diseaseHP:0040282 - Frequent78
HP:0003445HP:0003444EMG: chronic denervation signs1COL25A1 CL E G H8457018603ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040281 - Very frequent3
HP:0003445HP:0003444EMG: chronic denervation signs1DCAF8 CL E G H5071724891OMIM:610100Giant axonal neuropathy, autosomal dominant.2
HP:0003445HP:0003444EMG: chronic denervation signs1ERGIC1 CL E G H5722229205ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040281 - Very frequent
HP:0003445HP:0003444EMG: chronic denervation signs1FBXO38 CL E G H8154528844OMIM:615575Neuronopathy, distal hereditary motor, type IID1
HP:0003445HP:0003444EMG: chronic denervation signs1HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040281 - Very frequent12
HP:0003445HP:0003444EMG: chronic denervation signs1HNRNPA1 CL E G H31785031ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional31
HP:0003445HP:0003444EMG: chronic denervation signs1HNRNPA2B1 CL E G H31815033ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional5
HP:0003445HP:0003444EMG: chronic denervation signs1HSPB1 CL E G H33155246ORPHA:99940Autosomal dominant Charcot-Marie-Tooth disease type 2FHP:0040281 - Very frequent47
HP:0003445HP:0003444EMG: chronic denervation signs1HSPB8 CL E G H2635330171OMIM:608673Charcot-Marie-Tooth disease, axonal, type 2L.38
HP:0003445HP:0003444EMG: chronic denervation signs1MFN2 CL E G H992716877ORPHA:99947Autosomal dominant Charcot-Marie-Tooth disease type 2A2HP:0040281 - Very frequent203
HP:0003445HP:0003444EMG: chronic denervation signs1MPV17 CL E G H43587224OMIM:618400Charcot-Marie-Tooth disease, axonal, type 2EE56
HP:0003445HP:0003444EMG: chronic denervation signs1OPA1 CL E G H49768140ORPHA:1215Autosomal dominant optic atrophy plus syndromeHP:0040283 - Occasional214
HP:0003445HP:0003444EMG: chronic denervation signs1PLA2G6 CL E G H83989039ORPHA:35069Infantile neuroaxonal dystrophyHP:0040282 - Frequent133
HP:0003445HP:0003444EMG: chronic denervation signs1PLA2G6 CL E G H83989039OMIM:256600Neurodegeneration with brain iron accumulation 2A.133
HP:0003445HP:0003444EMG: chronic denervation signs1PRPS1 CL E G H56319462ORPHA:1187Lethal ataxia with deafness and optic atrophyHP:0040281 - Very frequent49
HP:0003445HP:0003444EMG: chronic denervation signs1PSAP CL E G H56609498ORPHA:309271Metachromatic leukodystrophy, adult formHP:0040283 - Occasional81
HP:0003445HP:0003444EMG: chronic denervation signs1PSAP CL E G H56609498ORPHA:309263Metachromatic leukodystrophy, juvenile formHP:0040283 - Occasional81
HP:0003445HP:0003444EMG: chronic denervation signs1PSAP CL E G H56609498ORPHA:309256Metachromatic leukodystrophy, late infantile formHP:0040282 - Frequent81
HP:0003445HP:0003444EMG: chronic denervation signs1SCO2 CL E G H999710604ORPHA:521411Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defectHP:0040282 - Frequent40
HP:0003445HP:0003444EMG: chronic denervation signs1SCYL2 CL E G H5568119286ORPHA:1143Neurogenic arthrogryposis multiplex congenitaHP:0040281 - Very frequent
HP:0003445HP:0003444EMG: chronic denervation signs1SH3TC2 CL E G H7962829427ORPHA:99949Charcot-Marie-Tooth disease type 4CHP:0040281 - Very frequent493
HP:0003445HP:0003444EMG: chronic denervation signs1SLC12A6 CL E G H999010914OMIM:218000Agenesis of the corpus callosum with peripheral neuropathy.163
HP:0003445HP:0003444EMG: chronic denervation signs1SMN1 CL E G H660611117OMIM:253400Spinal muscular atrophy, type III22
HP:0003445HP:0003444EMG: chronic denervation signs1SMN2 CL E G H660711118OMIM:253400Spinal muscular atrophy, type III1
HP:0003445HP:0003444EMG: chronic denervation signs1SPG7 CL E G H668711237ORPHA:35689Primary lateral sclerosisHP:0040282 - Frequent171
HP:0003445HP:0003444EMG: chronic denervation signs1TBCE CL E G H690511582ORPHA:496756Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndromeHP:0040282 - Frequent52
HP:0003445HP:0003444EMG: chronic denervation signs1TBCK CL E G H9362728261ORPHA:488632TBCK-related intellectual disability syndromeHP:0040281 - Very frequent13
HP:0003445HP:0003444EMG: chronic denervation signs1VCP CL E G H741512666OMIM:613954Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia63
HP:0003445HP:0003444EMG: chronic denervation signs1VCP CL E G H741512666ORPHA:52430Inclusion body myopathy with Paget disease of bone and frontotemporal dementiaHP:0040283 - Occasional63


Genes (54) :ACTA1 ALS2 ANO5 ARSA ASAH1 ATP7A CHCHD10 COL25A1 DCAF8 DYNC1H1 ERGIC1 FBXO38 GBF1 GDAP1 GJB1 HINT1 HNRNPA1 HNRNPA2B1 HSPB1 HSPB3 HSPB8 IBA57 IGHMBP2 LDB3 MFN2 MPV17 MYH7 NEB NEFH NOP56 OPA1 PLA2G6 PLEKHG5 PMP22 PNPT1 PRPS1 PSAP SCO2 SCYL2 SH3TC2 SLC12A6 SMN1 SMN2 SPG11 SPG7 SYNE1 TBCE TBCK TPP1 UBA1 VAPB VCP VPS13A VRK1

Diseases (58) :OMIM:161800 OMIM:205100 ORPHA:206549 OMIM:250100 ORPHA:309271 ORPHA:309263 ORPHA:309256 ORPHA:333 OMIM:300489 ORPHA:276435 ORPHA:1143 OMIM:610100 OMIM:158600 OMIM:615575 OMIM:606483 OMIM:608340 ORPHA:1175 ORPHA:324442 ORPHA:52430 ORPHA:99940 OMIM:608634 OMIM:613376 OMIM:608673 OMIM:158590 ORPHA:468661 OMIM:604320 OMIM:609452 ORPHA:99947 OMIM:618400 OMIM:160500 OMIM:256030 OMIM:616924 OMIM:614153 ORPHA:1215 ORPHA:35069 OMIM:256600 OMIM:611067 ORPHA:98916 ORPHA:101111 ORPHA:1187 ORPHA:521411 ORPHA:99949 OMIM:218000 OMIM:253300 OMIM:253400 OMIM:271150 ORPHA:2822 ORPHA:35689 ORPHA:88644 ORPHA:496756 ORPHA:488632 ORPHA:284324 ORPHA:1145 OMIM:182980 OMIM:613954 ORPHA:329475 ORPHA:2388 OMIM:607596
 

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