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 synaptic transmission (HP:0012535)

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

..Starting node
..Response to drugs acting on neuromuscular transmission (HP:0030201)

Term ID:

30201

Name:

Response to drugs acting on neuromuscular transmission

Synonym:

Definition:

Specific drugs interfere selectively with the different cellular mechanisms involved in neuromuscular transmission (synthesis, storage, release, action and inactivation of transmitter). The response of a patient to a specific drug can therefore be useful information for the differential diagnosis.

Comments:

Reference:

HP:0030201

Genes and Diseases:

Child Nodes:

........

Favorable response of weakness to acetylcholine esterase inhibitors (HP:0030202)

........

Unfavorable response of muscle weakness to acetylcholine esterase inhibitors (HP:0030203)

Sister Nodes:

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

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:0030201	HP:0030201	Response to drugs acting on neuromuscular transmission	0	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		12
HP:0030201	HP:0030201	Response to drugs acting on neuromuscular transmission	0	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		46
HP:0030201	HP:0030201	Response to drugs acting on neuromuscular transmission	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes		90
HP:0030201	HP:0030201	Response to drugs acting on neuromuscular transmission	0	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		38
HP:0030201	HP:0030201	Response to drugs acting on neuromuscular transmission	0	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		128
HP:0030201	HP:0030201	Response to drugs acting on neuromuscular transmission	0	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect		34
HP:0030201	HP:0030201	Response to drugs acting on neuromuscular transmission	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes		92
HP:0030201	HP:0030202	Favorable response of weakness to acetylcholine esterase inhibitors	1	ALG14 CL E G H	199857	28287	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	12
HP:0030201	HP:0030202	Favorable response of weakness to acetylcholine esterase inhibitors	1	ALG2 CL E G H	85365	23159	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	46
HP:0030201	HP:0030203	Unfavorable response of muscle weakness to acetylcholine esterase inhibitors	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent	90
HP:0030201	HP:0030202	Favorable response of weakness to acetylcholine esterase inhibitors	1	DPAGT1 CL E G H	1798	2995	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	38
HP:0030201	HP:0030202	Favorable response of weakness to acetylcholine esterase inhibitors	1	GFPT1 CL E G H	2673	4241	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	128
HP:0030201	HP:0030202	Favorable response of weakness to acetylcholine esterase inhibitors	1	GMPPB CL E G H	29925	22932	ORPHA:353327	Congenital myasthenic syndromes with glycosylation defect	HP:0040282 - Frequent	34
HP:0030201	HP:0030203	Unfavorable response of muscle weakness to acetylcholine esterase inhibitors	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040282 - Frequent	92

Genes (7) :ALG14 ALG2 COLQ DPAGT1 GFPT1 GMPPB LAMB2

Diseases (2) :ORPHA:353327 ORPHA:98915

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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