Human Phenotype Ontology 
Grandparent Node:
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Abnormal synaptic transmission at the neuromuscular junction (HP:0003398)help
Grandparent Node:
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Muscle weakness (HP:0001324)help
Parent Node:
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Fatigable weakness (HP:0003473)help
..Starting node
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Fatigable weakness of skeletal muscles (HP:0030197)help
Term ID: 30197
Name: Fatigable weakness of skeletal muscles
Synonym:
Definition: A type of weakness of skeletal muscle that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions.
Comments:
Reference: HP:0030197
Genes and Diseases:
 
       Child Nodes:
........expandFatigable weakness of distal limb muscles (HP:0030198) help
........expandFatigable weakness of neck muscles (HP:0030199) help
........expandFatiguable weakness of proximal limb muscles (HP:0030200) help

 Sister Nodes: 
..expandFatigable weakness of bulbar muscles (HP:0030192) help
..expandFatigable weakness of respiratory muscles (HP:0030196) 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:0030197HP:0030197Fatigable weakness of skeletal muscles0ACADM CL E G H3489ORPHA:42Medium chain acyl-CoA dehydrogenase deficiency197
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathy96
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromes127
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromes1
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0CASQ1 CL E G H8441512ORPHA:2593Tubular aggregate myopathy5
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathy35
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromes74
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromes53
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromes88
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromes139
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromes6
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromes91
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0FKRP CL E G H7914717997ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040282 - Frequent157
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvement197
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0GMPPB CL E G H2992522932ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040282 - Frequent34
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotonia12
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel typeHP:0040282 - Frequent4
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathy13
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0LARGE1 CL E G H92156511ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040282 - Frequent136
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0LDB3 CL E G H1115515710ORPHA:98912Late-onset distal myopathy, Markesbery-Griggs type286
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathy11
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromes124
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0MINPP1 CL E G H95627102ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040282 - Frequent3
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromes72
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0MYPN CL E G H8466523246ORPHA:171881Cap myopathy217
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0NEB CL E G H47037720ORPHA:171436Typical nemaline myopathy745
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0NR3C1 CL E G H29087978ORPHA:96253Cushing disease79
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0ORAI1 CL E G H8487625896ORPHA:2593Tubular aggregate myopathy19
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0POMT1 CL E G H105859202ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040282 - Frequent213
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0POMT2 CL E G H2995419743ORPHA:370968Congenital muscular dystrophy with intellectual disabilityHP:0040282 - Frequent221
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0POMT2 CL E G H2995419743ORPHA:206559POMT2-related limb-girdle muscular dystrophy R14HP:0040282 - Frequent221
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromes73
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromes263
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0STIM1 CL E G H678611386ORPHA:2593Tubular aggregate myopathy31
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa type18
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0TOE1 CL E G H11403415954ORPHA:284339Pontocerebellar hypoplasia type 7HP:0040282 - Frequent6
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0TP53 CL E G H715711998ORPHA:96253Cushing disease911
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0TPM2 CL E G H716912011ORPHA:171881Cap myopathy54
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0TPM2 CL E G H716912011ORPHA:171436Typical nemaline myopathy54
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0TPM3 CL E G H717012012ORPHA:171881Cap myopathy108
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0USP48 CL E G H8419618533ORPHA:96253Cushing disease1
HP:0030197HP:0030197Fatigable weakness of skeletal muscles0USP8 CL E G H910112631ORPHA:96253Cushing disease7
HP:0030197HP:0030199Fatigable weakness of neck muscles1ACADM CL E G H3489ORPHA:42Medium chain acyl-CoA dehydrogenase deficiencyHP:0040282 - Frequent197
HP:0030197HP:0030198Fatigable weakness of distal limb muscles1ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent96
HP:0030197HP:0030200Fatiguable weakness of proximal limb muscles1ACTA1 CL E G H58129ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional96
HP:0030197HP:0030199Fatigable weakness of neck muscles1AGRN CL E G H375790329ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent127
HP:0030197HP:0030199Fatigable weakness of neck muscles1AK9 CL E G H22126433814ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent1
HP:0030197HP:0030200Fatiguable weakness of proximal limb muscles1ATRX CL E G H546886ORPHA:96253Cushing disease169
HP:0030197HP:0030200Fatiguable weakness of proximal limb muscles1BRAF CL E G H6731097ORPHA:96253Cushing disease276
HP:0030197HP:0030200Fatiguable weakness of proximal limb muscles1CASQ1 CL E G H8441512ORPHA:2593Tubular aggregate myopathyHP:0040281 - Very frequent5
HP:0030197HP:0030200Fatiguable weakness of proximal limb muscles1CDH23 CL E G H6407213733ORPHA:96253Cushing disease636
HP:0030197HP:0030200Fatiguable weakness of proximal limb muscles1CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional35
HP:0030197HP:0030198Fatigable weakness of distal limb muscles1CFL2 CL E G H10731875ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent35
HP:0030197HP:0030199Fatigable weakness of neck muscles1CHRNA1 CL E G H11341955ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent74
HP:0030197HP:0030199Fatigable weakness of neck muscles1CHRNB1 CL E G H11401961ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent53
HP:0030197HP:0030199Fatigable weakness of neck muscles1CHRND CL E G H11441965ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent88
HP:0030197HP:0030199Fatigable weakness of neck muscles1CHRNE CL E G H11451966ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent139
HP:0030197HP:0030199Fatigable weakness of neck muscles1COL13A1 CL E G H13052190ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent6
HP:0030197HP:0030199Fatigable weakness of neck muscles1DOK7 CL E G H28548926594ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent91
HP:0030197HP:0030200Fatiguable weakness of proximal limb muscles1FLNC CL E G H23183756ORPHA:63273Distal myopathy with posterior leg and anterior hand involvementHP:0040283 - Occasional197
HP:0030197HP:0030198Fatigable weakness of distal limb muscles1HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040282 - Frequent12
HP:0030197HP:0030200Fatiguable weakness of proximal limb muscles1KCNK9 CL E G H513056283ORPHA:166108Intellectual disability, Birk-Barel typeHP:0040282 - Frequent4
HP:0030197HP:0030198Fatigable weakness of distal limb muscles1KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent13
HP:0030197HP:0030200Fatiguable weakness of proximal limb muscles1KLHL41 CL E G H1032416905ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional13
HP:0030197HP:0030198Fatigable weakness of distal limb muscles1LDB3 CL E G H1115515710ORPHA:98912Late-onset distal myopathy, Markesbery-Griggs typeHP:0040282 - Frequent286
HP:0030197HP:0030200Fatiguable weakness of proximal limb muscles1LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional11
HP:0030197HP:0030198Fatigable weakness of distal limb muscles1LMOD3 CL E G H562036649ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent11
HP:0030197HP:0030199Fatigable weakness of neck muscles1LRP4 CL E G H40386696ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent124
HP:0030197HP:0030199Fatigable weakness of neck muscles1MUSK CL E G H45937525ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent72
HP:0030197HP:0030200Fatiguable weakness of proximal limb muscles1MYPN CL E G H8466523246ORPHA:171881Cap myopathyHP:0040283 - Occasional217
HP:0030197HP:0030198Fatigable weakness of distal limb muscles1NEB CL E G H47037720ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent745
HP:0030197HP:0030200Fatiguable weakness of proximal limb muscles1NEB CL E G H47037720ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional745
HP:0030197HP:0030200Fatiguable weakness of proximal limb muscles1NR3C1 CL E G H29087978ORPHA:96253Cushing disease79
HP:0030197HP:0030200Fatiguable weakness of proximal limb muscles1ORAI1 CL E G H8487625896ORPHA:2593Tubular aggregate myopathyHP:0040281 - Very frequent19
HP:0030197HP:0030199Fatigable weakness of neck muscles1RAPSN CL E G H59139863ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent73
HP:0030197HP:0030199Fatigable weakness of neck muscles1SCN4A CL E G H632910591ORPHA:98913Postsynaptic congenital myasthenic syndromesHP:0040282 - Frequent263
HP:0030197HP:0030200Fatiguable weakness of proximal limb muscles1STIM1 CL E G H678611386ORPHA:2593Tubular aggregate myopathyHP:0040281 - Very frequent31
HP:0030197HP:0030200Fatiguable weakness of proximal limb muscles1SYNE1 CL E G H2334517089ORPHA:319332Autosomal recessive myogenic arthrogryposis multiplex congenita1129
HP:0030197HP:0030200Fatiguable weakness of proximal limb muscles1TFG CL E G H1034211758ORPHA:90117Hereditary motor and sensory neuropathy, Okinawa typeHP:0040281 - Very frequent18
HP:0030197HP:0030200Fatiguable weakness of proximal limb muscles1TP53 CL E G H715711998ORPHA:96253Cushing disease911
HP:0030197HP:0030200Fatiguable weakness of proximal limb muscles1TPM2 CL E G H716912011ORPHA:171881Cap myopathyHP:0040283 - Occasional54
HP:0030197HP:0030200Fatiguable weakness of proximal limb muscles1TPM2 CL E G H716912011ORPHA:171436Typical nemaline myopathyHP:0040283 - Occasional54
HP:0030197HP:0030198Fatigable weakness of distal limb muscles1TPM2 CL E G H716912011ORPHA:171436Typical nemaline myopathyHP:0040282 - Frequent54
HP:0030197HP:0030200Fatiguable weakness of proximal limb muscles1TPM3 CL E G H717012012ORPHA:171881Cap myopathyHP:0040283 - Occasional108
HP:0030197HP:0030200Fatiguable weakness of proximal limb muscles1USP48 CL E G H8419618533ORPHA:96253Cushing disease1
HP:0030197HP:0030200Fatiguable weakness of proximal limb muscles1USP8 CL E G H910112631ORPHA:96253Cushing disease7


Genes (44) :ACADM ACTA1 AGRN AK9 ATRX BRAF CASQ1 CDH23 CFL2 CHRNA1 CHRNB1 CHRND CHRNE COL13A1 DOK7 FKRP FLNC GMPPB HINT1 KCNK9 KLHL41 LARGE1 LDB3 LMOD3 LRP4 MINPP1 MUSK MYPN NEB NR3C1 ORAI1 POMT1 POMT2 RAPSN SCN4A STIM1 SYNE1 TFG TOE1 TP53 TPM2 TPM3 USP48 USP8

Diseases (15) :ORPHA:42 ORPHA:171436 ORPHA:98913 ORPHA:96253 ORPHA:2593 ORPHA:370968 ORPHA:63273 ORPHA:324442 ORPHA:166108 ORPHA:98912 ORPHA:284339 ORPHA:171881 ORPHA:206559 ORPHA:319332 ORPHA:90117
 

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