Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the musculature (HP:0003011)help
Parent Node:
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Abnormal muscle physiology (HP:0011804)help
..Starting node
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Increased muscle fatiguability (HP:0003750)help
Term ID: 3750
Name: Increased muscle fatiguability
Synonym: Muscle fatigue
Definition: An abnormal, increased fatiguability of the musculature.
Comments:
Reference: HP:0003750
Genes and Diseases:
 
       Child Nodes:
........expandExercise-induced muscle fatigue (HP:0009020) help

 Sister Nodes: 
..expandAbnormal muscle tone (HP:0003808) help
..expandEMG abnormality (HP:0003457) help
..expandFunctional motor deficit (HP:0004302) help
..expandMuscle hyperirritability (HP:0003559) help
..expandMuscle spasm (HP:0003394) help
..expandMuscle stiffness (HP:0003552) help
..expandMuscle weakness (HP:0001324) help
..expandMyotonia (HP:0002486) help
..expandTetany (HP:0001281) 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:0003750HP:0003750Increased muscle fatiguability0AMPD1 CL E G H270468ORPHA:45Adenosine monophosphate deaminase deficiency62
HP:0003750HP:0003750Increased muscle fatiguability0AMPD1 CL E G H270468OMIM:615511MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY; MMDD62
HP:0003750HP:0003750Increased muscle fatiguability0AMPD3 CL E G H272470ORPHA:45Adenosine monophosphate deaminase deficiency65
HP:0003750HP:0003750Increased muscle fatiguability0CACNA1S CL E G H7791397ORPHA:681Hypokalemic periodic paralysis247
HP:0003750HP:0003750Increased muscle fatiguability0CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysis247
HP:0003750HP:0003750Increased muscle fatiguability0CAV3 CL E G H8591529OMIM:123320Creatine phosphokinase, elevated serum148
HP:0003750HP:0003750Increased muscle fatiguability0CHRND CL E G H11441965OMIM:616323Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency88
HP:0003750HP:0003750Increased muscle fatiguability0DBH CL E G H16212689ORPHA:230Dopamine beta-hydroxylase deficiency80
HP:0003750HP:0003750Increased muscle fatiguability0DMGDH CL E G H2995824475ORPHA:243343Dimethylglycine dehydrogenase deficiencyHP:0040281 - Very frequent27
HP:0003750HP:0003750Increased muscle fatiguability0DMGDH CL E G H2995824475OMIM:605850DIMETHYLGLYCINE DEHYDROGENASE DEFICIENCY; DMGDHD27
HP:0003750HP:0003750Increased muscle fatiguability0GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysis
HP:0003750HP:0003750Increased muscle fatiguability0KCNE3 CL E G H100086243ORPHA:681Hypokalemic periodic paralysis73
HP:0003750HP:0003750Increased muscle fatiguability0KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysis10
HP:0003750HP:0003750Increased muscle fatiguability0PGK1 CL E G H52308896ORPHA:713Glycogen storage disease due to phosphoglycerate kinase 1 deficiency21
HP:0003750HP:0003750Increased muscle fatiguability0RRM2B CL E G H5048417296OMIM:613077Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5.125
HP:0003750HP:0003750Increased muscle fatiguability0SCN4A CL E G H632910591ORPHA:681Hypokalemic periodic paralysis263
HP:0003750HP:0003750Increased muscle fatiguability0SERPINA6 CL E G H8661540OMIM:611489Corticosteroid-binding globulin deficiency.4
HP:0003750HP:0003750Increased muscle fatiguability0SLC16A1 CL E G H656610922OMIM:245340Erythrocyte lactate transporter defect74
HP:0003750HP:0003750Increased muscle fatiguability0STIM1 CL E G H678611386OMIM:185070Stormorken syndrome.31
HP:0003750HP:0003750Increased muscle fatiguability0TRAPPC11 CL E G H6068425751ORPHA:369847Intellectual disability-hyperkinetic movement-truncal ataxia syndrome27
HP:0003750HP:0009020Exercise-induced muscle fatigue1AMPD1 CL E G H270468ORPHA:45Adenosine monophosphate deaminase deficiencyHP:0040281 - Very frequent62
HP:0003750HP:0009020Exercise-induced muscle fatigue1AMPD3 CL E G H272470ORPHA:45Adenosine monophosphate deaminase deficiencyHP:0040281 - Very frequent65
HP:0003750HP:0009020Exercise-induced muscle fatigue1CACNA1S CL E G H7791397ORPHA:681Hypokalemic periodic paralysisHP:0040282 - Frequent247
HP:0003750HP:0009020Exercise-induced muscle fatigue1CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysisHP:0040282 - Frequent247
HP:0003750HP:0009020Exercise-induced muscle fatigue1DBH CL E G H16212689ORPHA:230Dopamine beta-hydroxylase deficiencyHP:0040282 - Frequent80
HP:0003750HP:0009020Exercise-induced muscle fatigue1GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysisHP:0040282 - Frequent
HP:0003750HP:0009020Exercise-induced muscle fatigue1KCNE3 CL E G H100086243ORPHA:681Hypokalemic periodic paralysisHP:0040282 - Frequent73
HP:0003750HP:0009020Exercise-induced muscle fatigue1KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysisHP:0040282 - Frequent10
HP:0003750HP:0009020Exercise-induced muscle fatigue1PGK1 CL E G H52308896ORPHA:713Glycogen storage disease due to phosphoglycerate kinase 1 deficiencyHP:0040282 - Frequent21
HP:0003750HP:0009020Exercise-induced muscle fatigue1SCN4A CL E G H632910591ORPHA:681Hypokalemic periodic paralysisHP:0040282 - Frequent263
HP:0003750HP:0009020Exercise-induced muscle fatigue1SLC16A1 CL E G H656610922OMIM:245340Erythrocyte lactate transporter defect.74
HP:0003750HP:0009020Exercise-induced muscle fatigue1TRAPPC11 CL E G H6068425751ORPHA:369847Intellectual disability-hyperkinetic movement-truncal ataxia syndromeHP:0040282 - Frequent27


Genes (17) :AMPD1 AMPD3 CACNA1S CAV3 CHRND DBH DMGDH GABRA3 KCNE3 KCNJ18 PGK1 RRM2B SCN4A SERPINA6 SLC16A1 STIM1 TRAPPC11

Diseases (15) :ORPHA:45 OMIM:615511 ORPHA:681 ORPHA:79102 OMIM:123320 OMIM:616323 ORPHA:230 ORPHA:243343 OMIM:605850 ORPHA:713 OMIM:613077 OMIM:611489 OMIM:245340 OMIM:185070 ORPHA:369847
 

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