Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal muscle physiology (HP:0011804)help
Parent Node:
expand
EMG abnormality (HP:0003457)help
..Starting node
..expand
EMG: impaired neuromuscular transmission (HP:0100285)help
Term ID: 100285
Name: EMG: impaired neuromuscular transmission
Synonym:
Definition: An electromyographic finding associated with erratic or absent neuromuscular transmission with erratic, moment-to-moment changes in the shape of the motor unit potential (MUP).
Comments:
Reference: HP:0100285
Genes and Diseases:
 
       Child Nodes:
........expandEMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403) help
........expandIncreased jitter at single fibre EMG (HP:0030205) help
........expandEMG: incremental response of compound muscle action potential to repetitive nerve stimulation (HP:0030206) help

 Sister Nodes: 
..expandEMG: axonal abnormality (HP:0003482) help
..expandEMG: continuous motor unit activity at rest (HP:0100283) 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:0100285HP:0100285EMG: impaired neuromuscular transmission0AGRN CL E G H375790329OMIM:615120Myasthenic syndrome, congenital, 8127
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromes127
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent127
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromes1
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defect12
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0ALG14 CL E G H19985728287OMIM:616227Myasthenic syndrome, congenital, 1512
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0ALG14 CL E G H19985728287OMIM:619036MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA12
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defect46
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathy99
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0CACNA1D CL E G H7761391ORPHA:369929Primary hyperaldosteronism-seizures-neurological abnormalities syndromeHP:0040282 - Frequent51
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0CHAT CL E G H11031912OMIM:254210Myasthenic syndrome, congenital, 6, presynaptic65
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent65
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0CHRNA1 CL E G H11341955OMIM:608930Myasthenic syndrome, congenital, 1B, fast-channel74
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromes74
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0CHRNB1 CL E G H11401961OMIM:616313Myasthenic syndrome, congenital, 2A, slow-channel53
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromes53
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0CHRND CL E G H11441965OMIM:616321Myasthenic syndrome, congenital, 3A, slow-channel88
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromes88
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0CHRNE CL E G H11451966OMIM:605809Myasthenic syndrome, congenital, 4A, slow-channel139
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency139
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromes139
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromes6
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent6
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0COLQ CL E G H82922226OMIM:603034Myasthenic syndrome, congenital, 590
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromes90
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromes91
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defect38
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0DPAGT1 CL E G H17982995OMIM:614750Myasthenic syndrome, congenital, 13, with tubular aggregates38
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defect128
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency128
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0GFPT1 CL E G H26734241OMIM:610542Myasthenic syndrome, congenital, with tubular aggregates 1128
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defect34
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0GMPPB CL E G H2992522932ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R1934
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromes92
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromes124
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromes72
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0MYL1 CL E G H46327582OMIM:618414Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0NOTCH2NLC CL E G H10099671753924OMIM:603472NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0OPA1 CL E G H49768140ORPHA:1215Autosomal dominant optic atrophy plus syndromeHP:0040282 - Frequent214
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0RAPSN CL E G H59139863OMIM:616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency73
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromes73
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathy1200
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromes263
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent2
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent28
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent9
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent2
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathy20
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0SYT2 CL E G H12783311510OMIM:619461MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B4
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent4
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathy7128
HP:0100285HP:0100285EMG: impaired neuromuscular transmission0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent2
HP:0100285HP:0030206EMG: incremental response of compound muscle action potential to repetitive nerve stimulation1 CL E G H
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1AGRN CL E G H375790329OMIM:615120Myasthenic syndrome, congenital, 8127
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent127
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent1
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent12
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1ALG14 CL E G H19985728287OMIM:616227Myasthenic syndrome, congenital, 1512
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1ALG14 CL E G H19985728287OMIM:619036MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA12
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent46
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1BIN1 CL E G H2741052ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional99
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1CHAT CL E G H11031912OMIM:254210Myasthenic syndrome, congenital, 6, presynaptic.65
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1CHRNA1 CL E G H11341955OMIM:608930Myasthenic syndrome, congenital, 1B, fast-channel74
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent74
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1CHRNB1 CL E G H11401961OMIM:616313Myasthenic syndrome, congenital, 2A, slow-channel53
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent53
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1CHRND CL E G H11441965OMIM:616321Myasthenic syndrome, congenital, 3A, slow-channel88
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent88
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1CHRNE CL E G H11451966OMIM:605809Myasthenic syndrome, congenital, 4A, slow-channel.139
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.139
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent139
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent6
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1COLQ CL E G H82922226OMIM:603034Myasthenic syndrome, congenital, 5.90
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040281 - Very frequent90
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent91
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent38
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1DPAGT1 CL E G H17982995OMIM:614750Myasthenic syndrome, congenital, 13, with tubular aggregates38
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent128
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.128
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1GFPT1 CL E G H26734241OMIM:610542Myasthenic syndrome, congenital, with tubular aggregates 1.128
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040282 - Frequent34
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1GMPPB CL E G H2992522932ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R19HP:0040283 - Occasional34
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040281 - Very frequent92
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent124
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent72
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1MYL1 CL E G H46327582OMIM:618414Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1NOTCH2NLC CL E G H10099671753924OMIM:603472NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1RAPSN CL E G H59139863OMIM:616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency73
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent73
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1RYR1 CL E G H626110483ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional1200
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent263
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1SPEG CL E G H1029016901ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional20
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1SYT2 CL E G H12783311510OMIM:619461MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B4
HP:0100285HP:0003403EMG: decremental response of compound muscle action potential to repetitive nerve stimulation1TTN CL E G H727312403ORPHA:169186Autosomal recessive centronuclear myopathyHP:0040283 - Occasional7128


Genes (35) :AGRN AK9 ALG14 ALG2 BIN1 CACNA1D CHAT CHRNA1 CHRNB1 CHRND CHRNE COL13A1 COLQ DOK7 DPAGT1 GFPT1 GMPPB LAMB2 LRP4 MUSK MYL1 MYO9A NOTCH2NLC OPA1 RAPSN RYR1 SCN4A SLC18A3 SLC25A1 SLC5A7 SNAP25 SPEG SYT2 TTN VAMP1

Diseases (24) :OMIM:615120 ORPHA:98913 ORPHA:98914 ORPHA:353327 OMIM:616227 OMIM:619036 ORPHA:169186 ORPHA:369929 OMIM:254210 OMIM:608930 OMIM:616313 OMIM:616321 OMIM:605809 OMIM:608931 OMIM:603034 ORPHA:98915 OMIM:614750 OMIM:610542 ORPHA:363623 OMIM:618414 OMIM:603472 ORPHA:1215 OMIM:616326 OMIM:619461
 

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