Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
EMG abnormality (HP:0003457)

Parent Node:
EMG: impaired neuromuscular transmission (HP:0100285)

..Starting node
..EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)

Term ID:

3403

Name:

EMG: decremental response of compound muscle action potential to repetitive nerve stimulation

Synonym:

EMG: decrement at repetitive stimulation; EMG: decremental response of CMAP to repetitive nerve stimulation

Definition:

A compound muscle action potential (CMAP) is a type of electromyography (EMG). CMAP refers to a group of almost simultaneous action potentials from several muscle fibers in the same area evoked by stimulation of the supplying motor nerve and are recorded as one multipeaked summated action potential. This abnormality refers to a greater than normal decrease in the amplitude during the course of the investigation.

Comments:

Reference:

HP:0003403

Genes and Diseases:

Child Nodes:

Sister Nodes:

EMG: incremental response of compound muscle action potential to repetitive nerve stimulation (HP:0030206)

Increased jitter at single fiber EMG (HP:0030205)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	AGRN CL E G H	375790	329	OMIM:615120	Myasthenic syndrome, congenital, 8		127
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	127
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	1
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	12
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	ALG14 CL E G H	199857	28287	OMIM:616227	Myasthenic syndrome, congenital, 15		12
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA		12
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	46
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	99
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic	.	65
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel		74
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	74
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	CHRNB1 CL E G H	1140	1961	OMIM:616313	Myasthenic syndrome, congenital, 2A, slow-channel		53
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	53
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel		88
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	88
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel	.	139
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	139
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	139
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	6
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	COLQ CL E G H	8292	2226	OMIM:603034	Myasthenic syndrome, congenital, 5	.	90
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	90
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	91
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	38
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	DPAGT1 CL E G H	1798	2995	OMIM:614750	Myasthenic syndrome, congenital, 13, with tubular aggregates		38
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	128
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.	128
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	GFPT1 CL E G H	2673	4241	OMIM:610542	Myasthenic syndrome, congenital, with tubular aggregates 1	.	128
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	34
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19	HP:0040283 - Occasional	34
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040281 - Very frequent	92
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	124
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	72
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency		73
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	73
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	1200
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	263
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	20
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0003403	HP:0003403	EMG: decremental response of compound muscle action potential to repetitive nerve stimulation	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional	7128

Genes (27) :AGRN AK9 ALG14 ALG2 BIN1 CHAT CHRNA1 CHRNB1 CHRND CHRNE COL13A1 COLQ DOK7 DPAGT1 GFPT1 GMPPB LAMB2 LRP4 MUSK MYL1 NOTCH2NLC RAPSN RYR1 SCN4A SPEG SYT2 TTN

Diseases (21) :OMIM:615120 ORPHA:98913 ORPHA:353327 OMIM:616227 OMIM:619036 ORPHA:169186 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 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.

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