Human Phenotype Ontology 
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Decreased compound muscle action potential amplitude (HP:0033383)help
Term ID: 33383
Name: Decreased compound muscle action potential amplitude
Synonym: Decreased CMAP amplitude
Definition: Reduced level of the compound muscle action potential (CMAP), which is recorded following electrical stimulation of a nerve from surface electrodes overlying a muscle supplied by that nerve.
Comments:
Reference: HP:0033383
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0033383HP:0033383Decreased compound muscle action potential amplitude0ALS2 CL E G H57679443OMIM:606353Primary lateral sclerosis, juvenile114
HP:0033383HP:0033383Decreased compound muscle action potential amplitude0BSCL2 CL E G H2658015832OMIM:619112NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC; HMN5C105
HP:0033383HP:0033383Decreased compound muscle action potential amplitude0CADM3 CL E G H5786317601OMIM:619519CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF1
HP:0033383HP:0033383Decreased compound muscle action potential amplitude0DNAJB6 CL E G H1004914888OMIM:603511Muscular dystrophy, limb-girdle, type 1E103
HP:0033383HP:0033383Decreased compound muscle action potential amplitude0EMILIN1 CL E G H1111719880OMIM:6200802
HP:0033383HP:0033383Decreased compound muscle action potential amplitude0KARS1 CL E G H37356215OMIM:613641Charcot-marie-tooth disease, recessive intermediate B
HP:0033383HP:0033383Decreased compound muscle action potential amplitude0PMP2 CL E G H53759117OMIM:618279Charcot-Marie-Tooth disease, demyelinating, type 1G1
HP:0033383HP:0033383Decreased compound muscle action potential amplitude0RAB7A CL E G H78799788OMIM:600882Charcot-Marie-Tooth disease, axonal, type 2B50
HP:0033383HP:0033383Decreased compound muscle action potential amplitude0SETX CL E G H23064445OMIM:602433Amyotrophic lateral sclerosis 4, juvenile162
HP:0033383HP:0033383Decreased compound muscle action potential amplitude0SYT2 CL E G H12783311510OMIM:616040Myasthenic syndrome, congenital, 7, presynaptic4
HP:0033383HP:0033383Decreased compound muscle action potential amplitude0UQCRC1 CL E G H738412585OMIM:619279PARKINSONISM WITH POLYNEUROPATHY; PKNPY


Genes (11) :ALS2 BSCL2 CADM3 DNAJB6 EMILIN1 KARS1 PMP2 RAB7A SETX SYT2 UQCRC1

Diseases (11) :OMIM:606353 OMIM:619112 OMIM:619519 OMIM:603511 OMIM:620080 OMIM:613641 OMIM:618279 OMIM:600882 OMIM:602433 OMIM:616040 OMIM:619279
 

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