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:
Abnormal peripheral nervous system synaptic transmission (HP:0030191)

Parent Node:
Abnormal synaptic transmission at the neuromuscular junction (HP:0003398)

..Starting node
..Decreased miniature endplate potentials (HP:0003402)

Term ID:

3402

Name:

Decreased miniature endplate potentials

Synonym:

Decreased MEPP; Small miniature endplate currents; Small miniature endplate potentials

Definition:

An abnormal reduction in the amplitude of the miniature endplate potentials, i.e. the postsynaptic response to transmitter released from an individual vesicle at the neuromuscular junction.

Comments:

Reference:

HP:0003402

Genes and Diseases:

Child Nodes:

Sister Nodes:

Fatigable weakness (HP:0003473)

Generalized hypotonia due to defect at the neuromuscular junction (HP:0003397)

Prolonged miniature endplate currents (HP:0003436)

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:0003402	HP:0003402	Decreased miniature endplate potentials	0	AGRN CL E G H	375790	329	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	127
HP:0003402	HP:0003402	Decreased miniature endplate potentials	0	AK9 CL E G H	221264	33814	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	1
HP:0003402	HP:0003402	Decreased miniature endplate potentials	0	CHAT CL E G H	1103	1912	OMIM:254210	Myasthenic syndrome, congenital, 6, presynaptic	.	65
HP:0003402	HP:0003402	Decreased miniature endplate potentials	0	CHRNA1 CL E G H	1134	1955	OMIM:608930	Myasthenic syndrome, congenital, 1B, fast-channel	.	74
HP:0003402	HP:0003402	Decreased miniature endplate potentials	0	CHRNA1 CL E G H	1134	1955	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	74
HP:0003402	HP:0003402	Decreased miniature endplate potentials	0	CHRNB1 CL E G H	1140	1961	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	53
HP:0003402	HP:0003402	Decreased miniature endplate potentials	0	CHRND CL E G H	1144	1965	OMIM:616321	Myasthenic syndrome, congenital, 3A, slow-channel		88
HP:0003402	HP:0003402	Decreased miniature endplate potentials	0	CHRND CL E G H	1144	1965	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	88
HP:0003402	HP:0003402	Decreased miniature endplate potentials	0	CHRNE CL E G H	1145	1966	OMIM:605809	Myasthenic syndrome, congenital, 4A, slow-channel	.	139
HP:0003402	HP:0003402	Decreased miniature endplate potentials	0	CHRNE CL E G H	1145	1966	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	139
HP:0003402	HP:0003402	Decreased miniature endplate potentials	0	COL13A1 CL E G H	1305	2190	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	6
HP:0003402	HP:0003402	Decreased miniature endplate potentials	0	DOK7 CL E G H	285489	26594	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	91
HP:0003402	HP:0003402	Decreased miniature endplate potentials	0	LRP4 CL E G H	4038	6696	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	124
HP:0003402	HP:0003402	Decreased miniature endplate potentials	0	MUSK CL E G H	4593	7525	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	72
HP:0003402	HP:0003402	Decreased miniature endplate potentials	0	RAPSN CL E G H	5913	9863	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	73
HP:0003402	HP:0003402	Decreased miniature endplate potentials	0	SCN4A CL E G H	6329	10591	ORPHA:98913	Postsynaptic congenital myasthenic syndromes	HP:0040282 - Frequent	263

Genes (13) :AGRN AK9 CHAT CHRNA1 CHRNB1 CHRND CHRNE COL13A1 DOK7 LRP4 MUSK RAPSN SCN4A

Diseases (5) :ORPHA:98913 OMIM:254210 OMIM:608930 OMIM:616321 OMIM:605809

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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