Human Phenotype Ontology 
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Functional motor deficit (HP:0004302)help
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Easy fatigability (HP:0003388)help
Term ID: 3388
Name: Easy fatigability
Synonym: Tired easily
Definition: Increased susceptibility to fatigue.
Comments:
Reference: HP:0003388
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandDifficulty climbing stairs (HP:0003551) help
..expandDifficulty running (HP:0009046) help
..expandDifficulty standing (HP:0003698) help
..expandDifficulty walking (HP:0002355) help
..expandExercise intolerance (HP:0003546) help
..expandFrequent falls (HP:0002359) 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:0003388HP:0003388Easy fatigability0ACTA1 CL E G H58129ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent96
HP:0003388HP:0003388Easy fatigability0AGK CL E G H5575021869OMIM:212350Sengers syndrome.82
HP:0003388HP:0003388Easy fatigability0AGRN CL E G H375790329OMIM:615120Myasthenic syndrome, congenital, 8.127
HP:0003388HP:0003388Easy fatigability0AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent127
HP:0003388HP:0003388Easy fatigability0AGRN CL E G H375790329ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent127
HP:0003388HP:0003388Easy fatigability0AIP CL E G H9049358ORPHA:2965ProlactinomaHP:0040282 - Frequent95
HP:0003388HP:0003388Easy fatigability0AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent1
HP:0003388HP:0003388Easy fatigability0ALG14 CL E G H19985728287ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional12
HP:0003388HP:0003388Easy fatigability0ALG2 CL E G H8536523159ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional46
HP:0003388HP:0003388Easy fatigability0ATP13A3 CL E G H7957224113OMIM:265400Pulmonary hypertension, primary, autosomal recessive.
HP:0003388HP:0003388Easy fatigability0BAG3 CL E G H9531939OMIM:612954Myopathy, myofibrillar, 6.204
HP:0003388HP:0003388Easy fatigability0CALR CL E G H8111455ORPHA:824Primary myelofibrosisHP:0040283 - Occasional1
HP:0003388HP:0003388Easy fatigability0CASQ1 CL E G H8441512OMIM:616231Myopathy, vacuolar, with CASQ1 aggregates.5
HP:0003388HP:0003388Easy fatigability0CCN6 CL E G H883812771ORPHA:1159Progressive pseudorheumatoid arthropathy of childhoodHP:0040282 - Frequent
HP:0003388HP:0003388Easy fatigability0CDH23 CL E G H6407213733ORPHA:2965ProlactinomaHP:0040282 - Frequent636
HP:0003388HP:0003388Easy fatigability0CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenomaHP:0040282 - Frequent636
HP:0003388HP:0003388Easy fatigability0CHAT CL E G H11031912ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent65
HP:0003388HP:0003388Easy fatigability0CHRNA1 CL E G H11341955OMIM:608930Myasthenic syndrome, congenital, 1B, fast-channel.74
HP:0003388HP:0003388Easy fatigability0CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent74
HP:0003388HP:0003388Easy fatigability0CHRNB1 CL E G H11401961OMIM:616313Myasthenic syndrome, congenital, 2A, slow-channel.53
HP:0003388HP:0003388Easy fatigability0CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent53
HP:0003388HP:0003388Easy fatigability0CHRND CL E G H11441965OMIM:616321Myasthenic syndrome, congenital, 3A, slow-channel.88
HP:0003388HP:0003388Easy fatigability0CHRND CL E G H11441965OMIM:616322Myasthenic syndrome, congenital, 3B, fast-channel.88
HP:0003388HP:0003388Easy fatigability0CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent88
HP:0003388HP:0003388Easy fatigability0CHRNE CL E G H11451966OMIM:605809Myasthenic syndrome, congenital, 4A, slow-channel.139
HP:0003388HP:0003388Easy fatigability0CHRNE CL E G H11451966OMIM:616324Myasthenic syndrome, congenital, 4B, fast-channel.139
HP:0003388HP:0003388Easy fatigability0CHRNE CL E G H11451966OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.139
HP:0003388HP:0003388Easy fatigability0CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent139
HP:0003388HP:0003388Easy fatigability0COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent6
HP:0003388HP:0003388Easy fatigability0COL13A1 CL E G H13052190ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent6
HP:0003388HP:0003388Easy fatigability0COLQ CL E G H82922226OMIM:603034Myasthenic syndrome, congenital, 5.90
HP:0003388HP:0003388Easy fatigability0COLQ CL E G H82922226ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040283 - Occasional90
HP:0003388HP:0003388Easy fatigability0CWF19L1 CL E G H5528025613OMIM:616127Spinocerebellar ataxia, autosomal recessive 179
HP:0003388HP:0003388Easy fatigability0DCC CL E G H16302701ORPHA:238722Familial congenital mirror movementsHP:0040282 - Frequent36
HP:0003388HP:0003388Easy fatigability0DNAL4 CL E G H101262955ORPHA:238722Familial congenital mirror movementsHP:0040282 - Frequent2
HP:0003388HP:0003388Easy fatigability0DNM2 CL E G H17852974OMIM:160150Myopathy, centronuclear, autosomal dominant.167
HP:0003388HP:0003388Easy fatigability0DOK7 CL E G H28548926594OMIM:254300Myasthenia, limb-girdle, familial.91
HP:0003388HP:0003388Easy fatigability0DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent91
HP:0003388HP:0003388Easy fatigability0DPAGT1 CL E G H17982995ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional38
HP:0003388HP:0003388Easy fatigability0FKBP14 CL E G H5503318625ORPHA:300179Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiencyHP:0040282 - Frequent13
HP:0003388HP:0003388Easy fatigability0GFPT1 CL E G H26734241ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional128
HP:0003388HP:0003388Easy fatigability0GFPT1 CL E G H26734241OMIM:608931Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency.128
HP:0003388HP:0003388Easy fatigability0GFPT1 CL E G H26734241OMIM:610542Myasthenic syndrome, congenital, with tubular aggregates 1.128
HP:0003388HP:0003388Easy fatigability0GMPPB CL E G H2992522932ORPHA:353327Congenital myasthenic syndromes with glycosylation defectHP:0040283 - Occasional34
HP:0003388HP:0003388Easy fatigability0GMPPB CL E G H2992522932ORPHA:363623GMPPB-related limb-girdle muscular dystrophy R19HP:0040283 - Occasional34
HP:0003388HP:0003388Easy fatigability0GTPBP3 CL E G H8470514880ORPHA:444013Combined oxidative phosphorylation defect type 23HP:0040283 - Occasional30
HP:0003388HP:0003388Easy fatigability0HACD1 CL E G H92009639ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent2
HP:0003388HP:0003388Easy fatigability0HNRNPK CL E G H31905044ORPHA:352665Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletionHP:0040283 - Occasional8
HP:0003388HP:0003388Easy fatigability0HNRNPK CL E G H31905044ORPHA:453504Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutationHP:0040283 - Occasional8
HP:0003388HP:0003388Easy fatigability0HSPB3 CL E G H89885248OMIM:613376Neuronopathy, distal hereditary motor, type IIC13
HP:0003388HP:0003388Easy fatigability0ISCU CL E G H2347929882OMIM:255125Myopathy with exercise intolerance, Swedish type19
HP:0003388HP:0003388Easy fatigability0ITGA7 CL E G H36796143ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent127
HP:0003388HP:0003388Easy fatigability0JAK2 CL E G H37176192ORPHA:824Primary myelofibrosisHP:0040283 - Occasional57
HP:0003388HP:0003388Easy fatigability0LAMB2 CL E G H39136487ORPHA:98915Synaptic congenital myasthenic syndromesHP:0040283 - Occasional92
HP:0003388HP:0003388Easy fatigability0LDHA CL E G H39396535ORPHA:284426Glycogen storage disease due to lactate dehydrogenase M-subunit deficiencyHP:0040282 - Frequent35
HP:0003388HP:0003388Easy fatigability0LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent1
HP:0003388HP:0003388Easy fatigability0LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent124
HP:0003388HP:0003388Easy fatigability0MAP3K20 CL E G H5177617797ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent2
HP:0003388HP:0003388Easy fatigability0MAP3K20 CL E G H5177617797OMIM:617760Myopathy, centronuclear, 6, with fiber-type disproportion.2
HP:0003388HP:0003388Easy fatigability0MEN1 CL E G H42217010ORPHA:2965ProlactinomaHP:0040282 - Frequent462
HP:0003388HP:0003388Easy fatigability0MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 11.11
HP:0003388HP:0003388Easy fatigability0MGME1 CL E G H9266716205ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndromeHP:0040282 - Frequent11
HP:0003388HP:0003388Easy fatigability0MICU1 CL E G H103671530OMIM:615673Myopathy with extrapyramidal signs14
HP:0003388HP:0003388Easy fatigability0MPL CL E G H43527217ORPHA:824Primary myelofibrosisHP:0040283 - Occasional97
HP:0003388HP:0003388Easy fatigability0MTMR14 CL E G H6441926190OMIM:160150Myopathy, centronuclear, autosomal dominant.7
HP:0003388HP:0003388Easy fatigability0MUSK CL E G H45937525OMIM:616325Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency.72
HP:0003388HP:0003388Easy fatigability0MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent72
HP:0003388HP:0003388Easy fatigability0MYL2 CL E G H46337583ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent131
HP:0003388HP:0003388Easy fatigability0MYO9A CL E G H46497608ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent
HP:0003388HP:0003388Easy fatigability0MYPN CL E G H8466523246ORPHA:171881Cap myopathyHP:0040283 - Occasional217
HP:0003388HP:0003388Easy fatigability0NEB CL E G H47037720OMIM:256030Nemaline myopathy 2, autosomal recessive745
HP:0003388HP:0003388Easy fatigability0NFE2L2 CL E G H47807782OMIM:617744Immunodeficiency, developmental delay, and hypohomocysteinemia20
HP:0003388HP:0003388Easy fatigability0NTN1 CL E G H94238029ORPHA:238722Familial congenital mirror movementsHP:0040282 - Frequent
HP:0003388HP:0003388Easy fatigability0PNPLA2 CL E G H5710430802OMIM:610717Neutral lipid storage disease with myopathy.65
HP:0003388HP:0003388Easy fatigability0PNPLA2 CL E G H5710430802ORPHA:98908Neutral lipid storage myopathyHP:0040282 - Frequent65
HP:0003388HP:0003388Easy fatigability0POLG CL E G H54289179ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional464
HP:0003388HP:0003388Easy fatigability0POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent464
HP:0003388HP:0003388Easy fatigability0POLG2 CL E G H112329180ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional45
HP:0003388HP:0003388Easy fatigability0POMT1 CL E G H105859202OMIM:609308Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1.213
HP:0003388HP:0003388Easy fatigability0POMT1 CL E G H105859202ORPHA:86812POMT1-related limb-girdle muscular dystrophy R11HP:0040283 - Occasional213
HP:0003388HP:0003388Easy fatigability0PRKAR1A CL E G H55739388ORPHA:615Familial atrial myxomaHP:0040282 - Frequent134
HP:0003388HP:0003388Easy fatigability0PYROXD1 CL E G H7991226162OMIM:617258MYOPATHY, MYOFIBRILLAR, 8; MFM85
HP:0003388HP:0003388Easy fatigability0RAD51 CL E G H58889817ORPHA:238722Familial congenital mirror movementsHP:0040282 - Frequent9
HP:0003388HP:0003388Easy fatigability0RAPSN CL E G H59139863OMIM:616326Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency.73
HP:0003388HP:0003388Easy fatigability0RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent73
HP:0003388HP:0003388Easy fatigability0RRM2B CL E G H5048417296ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional125
HP:0003388HP:0003388Easy fatigability0RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent125
HP:0003388HP:0003388Easy fatigability0RYR1 CL E G H626110483ORPHA:597Central core diseaseHP:0040282 - Frequent1200
HP:0003388HP:0003388Easy fatigability0RYR1 CL E G H626110483ORPHA:424107Congenital myopathy with myasthenic-like onsetHP:0040282 - Frequent1200
HP:0003388HP:0003388Easy fatigability0SCN4A CL E G H632910591OMIM:614198Myasthenic syndrome, congenital, 16.263
HP:0003388HP:0003388Easy fatigability0SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent263
HP:0003388HP:0003388Easy fatigability0SDHA CL E G H638910680ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent304
HP:0003388HP:0003388Easy fatigability0SDHAF1 CL E G H64409633867ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent16
HP:0003388HP:0003388Easy fatigability0SDHB CL E G H639010681ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent237
HP:0003388HP:0003388Easy fatigability0SDHD CL E G H639210683ORPHA:3208Isolated succinate-CoQ reductase deficiencyHP:0040282 - Frequent129
HP:0003388HP:0003388Easy fatigability0SELENON CL E G H5719015999ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent144
HP:0003388HP:0003388Easy fatigability0SLC18A3 CL E G H657210936ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent2
HP:0003388HP:0003388Easy fatigability0SLC25A1 CL E G H657610979OMIM:618197Myasthenic syndrome, congenital, 23, presynaptic.28
HP:0003388HP:0003388Easy fatigability0SLC25A1 CL E G H657610979ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent28
HP:0003388HP:0003388Easy fatigability0SLC25A4 CL E G H29110990ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional68
HP:0003388HP:0003388Easy fatigability0SLC25A4 CL E G H29110990OMIM:615418Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)68
HP:0003388HP:0003388Easy fatigability0SLC5A7 CL E G H6048214025ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent9
HP:0003388HP:0003388Easy fatigability0SNAP25 CL E G H661611132ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent2
HP:0003388HP:0003388Easy fatigability0STIM1 CL E G H678611386OMIM:160565Myopathy, tubular aggregate, 1.31
HP:0003388HP:0003388Easy fatigability0SURF1 CL E G H683411474OMIM:616684Charcot-Marie-Tooth disease, type 4K73
HP:0003388HP:0003388Easy fatigability0SYT2 CL E G H12783311510OMIM:616040Myasthenic syndrome, congenital, 7, presynaptic.4
HP:0003388HP:0003388Easy fatigability0SYT2 CL E G H12783311510OMIM:619461MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B4
HP:0003388HP:0003388Easy fatigability0SYT2 CL E G H12783311510ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent4
HP:0003388HP:0003388Easy fatigability0TDP2 CL E G H5156717768OMIM:616949Spinocerebellar ataxia, autosomal recessive 23.3
HP:0003388HP:0003388Easy fatigability0TET2 CL E G H5479025941ORPHA:824Primary myelofibrosisHP:0040283 - Occasional3
HP:0003388HP:0003388Easy fatigability0TGFB1 CL E G H704011766OMIM:131300Camurati-Engelmann disease13
HP:0003388HP:0003388Easy fatigability0TMEM126B CL E G H5586330883OMIM:618250Mitochondrial complex I deficiency, nuclear type 29.4
HP:0003388HP:0003388Easy fatigability0TPM2 CL E G H716912011ORPHA:171881Cap myopathyHP:0040283 - Occasional54
HP:0003388HP:0003388Easy fatigability0TPM2 CL E G H716912011ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent54
HP:0003388HP:0003388Easy fatigability0TPM3 CL E G H717012012ORPHA:171881Cap myopathyHP:0040283 - Occasional108
HP:0003388HP:0003388Easy fatigability0TPM3 CL E G H717012012ORPHA:2020Congenital fiber-type disproportion myopathyHP:0040282 - Frequent108
HP:0003388HP:0003388Easy fatigability0TWNK CL E G H566521160ORPHA:254892Autosomal dominant progressive external ophthalmoplegiaHP:0040283 - Occasional113
HP:0003388HP:0003388Easy fatigability0TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040282 - Frequent138
HP:0003388HP:0003388Easy fatigability0VAMP1 CL E G H684312642ORPHA:98914Presynaptic congenital myasthenic syndromesHP:0040282 - Frequent2


Genes (86) :ACTA1 AGK AGRN AIP AK9 ALG14 ALG2 ATP13A3 BAG3 CALR CASQ1 CCN6 CDH23 CHAT CHRNA1 CHRNB1 CHRND CHRNE COL13A1 COLQ CWF19L1 DCC DNAL4 DNM2 DOK7 DPAGT1 FKBP14 GFPT1 GMPPB GTPBP3 HACD1 HNRNPK HSPB3 ISCU ITGA7 JAK2 LAMB2 LDHA LIG3 LRP4 MAP3K20 MEN1 MGME1 MICU1 MPL MTMR14 MUSK MYL2 MYO9A MYPN NEB NFE2L2 NTN1 PNPLA2 POLG POLG2 POMT1 PRKAR1A PYROXD1 RAD51 RAPSN RRM2B RYR1 SCN4A SDHA SDHAF1 SDHB SDHD SELENON SLC18A3 SLC25A1 SLC25A4 SLC5A7 SNAP25 STIM1 SURF1 SYT2 TDP2 TET2 TGFB1 TMEM126B TPM2 TPM3 TWNK TYMP VAMP1

Diseases (65) :ORPHA:2020 OMIM:212350 OMIM:615120 ORPHA:98913 ORPHA:98914 ORPHA:2965 ORPHA:353327 OMIM:265400 OMIM:612954 ORPHA:824 OMIM:616231 ORPHA:1159 ORPHA:91347 OMIM:608930 OMIM:616313 OMIM:616321 OMIM:616322 OMIM:605809 OMIM:616324 OMIM:608931 OMIM:603034 ORPHA:98915 OMIM:616127 ORPHA:238722 OMIM:160150 OMIM:254300 ORPHA:300179 OMIM:610542 ORPHA:363623 ORPHA:444013 ORPHA:352665 ORPHA:453504 OMIM:613376 OMIM:255125 ORPHA:284426 ORPHA:298 OMIM:617760 OMIM:615084 ORPHA:352447 OMIM:615673 OMIM:616325 ORPHA:171881 OMIM:256030 OMIM:617744 OMIM:610717 ORPHA:98908 ORPHA:254892 OMIM:609308 ORPHA:86812 ORPHA:615 OMIM:617258 OMIM:616326 ORPHA:597 ORPHA:424107 OMIM:614198 ORPHA:3208 OMIM:618197 OMIM:615418 OMIM:160565 OMIM:616684 OMIM:616040 OMIM:619461 OMIM:616949 OMIM:131300 OMIM:618250
 

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