Human Phenotype Ontology 
Grandparent Node:
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Abnormal nervous system physiology (HP:0012638)help
Parent Node:
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Abnormality of movement (HP:0100022)help
..Starting node
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Muscle fibrillation (HP:0010546)help
Term ID: 10546
Name: Muscle fibrillation
Synonym: Twitching
Definition: Fine, rapid twitching of individual muscle fibers with little or no movement of the muscle as a whole. If a motor neuron or its axon is destroyed, the muscle fibers it innervates undergo denervation atrophy. This leads to hypersensitivity of individual muscle fibers to acetyl choline so that they may contract spontaneously. Isolated activity of individual muscle fibers is generally so fine it cannot be seen through the intact skin, although it can be recorded as a short-duration spike in the EMG.
Comments:
Reference: HP:0010546
Genes and Diseases:
 
       Child Nodes:
........expandTongue fasciculations (HP:0001308) help
........expandFacial-lingual fasciculations (HP:0007089) help
........expandLimb fasciculations (HP:0007289) help

 Sister Nodes: 
..expandAbnormal head movements (HP:0002457) help
..expandAbnormal posturing (HP:0002533) help
..expandAbnormal reflex (HP:0031826) help
..expandAstasia (HP:0020037) help
..expandAsterixis (HP:0012164) help
..expandBimanual synkinesia (HP:0001335) help
..expandCerebral palsy (HP:0100021) help
..expandDiminished movement (HP:0002374) help
..expandDyskinesia (HP:0100660) help
..expandDystonia (HP:0001332) help
..expandFrontal release signs (HP:0000743) help
..expandGait disturbance (HP:0001288) help
..expandHyperactivity (HP:0000752) help
..expandHyperkinetic movements (HP:0002487) help
..expandInvoluntary movements (HP:0004305) help
..expandMyokymia (HP:0002411) help
..expandPostural instability (HP:0002172) help
..expandPrimitive reflex (HP:0002476) help
..expandStooped posture (HP:0025403) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0010546HP:0010546Muscle fibrillation0BIN1 CL E G H274169189ORPHA14871052601248
HP:0010546HP:0010546Muscle fibrillation0BIN1 CL E G H274169189ORPHA14311052601248
HP:0010546HP:0010546Muscle fibrillation0DNM2 CL E G H1785169189ORPHA16752974602378
HP:0010546HP:0010546Muscle fibrillation0DNM2 CL E G H1785169189ORPHA17662974602378
HP:0010546HP:0010546Muscle fibrillation0DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM121293097603009
HP:0010546HP:0010546Muscle fibrillation0DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM123583097603009
HP:0010546HP:0010546Muscle fibrillation0IFRD1 CL E G H347598771ORPHA1505456603502
HP:0010546HP:0010546Muscle fibrillation0IFRD1 CL E G H347598771ORPHA1515456603502
HP:0010546HP:0010546Muscle fibrillation0MTMR14 CL E G H64419169189ORPHA111426190611089
HP:0010546HP:0010546Muscle fibrillation0MTMR14 CL E G H64419169189ORPHA17526190611089
HP:0010546HP:0010546Muscle fibrillation0MYF6 CL E G H4618169189ORPHA1747566159991
HP:0010546HP:0010546Muscle fibrillation0MYF6 CL E G H4618169189ORPHA1797566159991
HP:0010546HP:0010546Muscle fibrillation0RYR1 CL E G H6261169189ORPHA1460410483180901
HP:0010546HP:0010546Muscle fibrillation0RYR1 CL E G H6261169189ORPHA1410110483180901
HP:0010546HP:0010546Muscle fibrillation0TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM17129947608112
HP:0010546HP:0010546Muscle fibrillation0TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM14029947608112
HP:0010546HP:0007289Limb fasciculations1BIN1 CL E G H274169189ORPHA14311052601248
HP:0010546HP:0001308Tongue fasciculations1BIN1 CL E G H274169189ORPHA14871052601248
HP:0010546HP:0007089Facial-lingual fasciculations1BIN1 CL E G H274169189ORPHA14871052601248
HP:0010546HP:0001308Tongue fasciculations1BIN1 CL E G H274169189ORPHA14311052601248
HP:0010546HP:0007089Facial-lingual fasciculations1BIN1 CL E G H274169189ORPHA14311052601248
HP:0010546HP:0007289Limb fasciculations1BIN1 CL E G H274169189ORPHA14871052601248
HP:0010546HP:0001308Tongue fasciculations1DNM2 CL E G H1785169189ORPHA16752974602378
HP:0010546HP:0007089Facial-lingual fasciculations1DNM2 CL E G H1785169189ORPHA16752974602378
HP:0010546HP:0007289Limb fasciculations1DNM2 CL E G H1785169189ORPHA17662974602378
HP:0010546HP:0007289Limb fasciculations1DNM2 CL E G H1785169189ORPHA16752974602378
HP:0010546HP:0001308Tongue fasciculations1DNM2 CL E G H1785169189ORPHA17662974602378
HP:0010546HP:0007089Facial-lingual fasciculations1DNM2 CL E G H1785169189ORPHA17662974602378
HP:0010546HP:0001308Tongue fasciculations1DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM121293097603009
HP:0010546HP:0007089Facial-lingual fasciculations1DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM121293097603009
HP:0010546HP:0007289Limb fasciculations1DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM123583097603009
HP:0010546HP:0007289Limb fasciculations1DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM121293097603009
HP:0010546HP:0001308Tongue fasciculations1DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM123583097603009
HP:0010546HP:0007089Facial-lingual fasciculations1DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM123583097603009
HP:0010546HP:0001308Tongue fasciculations1IFRD1 CL E G H347598771ORPHA1505456603502
HP:0010546HP:0007089Facial-lingual fasciculations1IFRD1 CL E G H347598771ORPHA1505456603502
HP:0010546HP:0007289Limb fasciculations1IFRD1 CL E G H347598771ORPHA1515456603502
HP:0010546HP:0007289Limb fasciculations1IFRD1 CL E G H347598771ORPHA1505456603502
HP:0010546HP:0001308Tongue fasciculations1IFRD1 CL E G H347598771ORPHA1515456603502
HP:0010546HP:0007089Facial-lingual fasciculations1IFRD1 CL E G H347598771ORPHA1515456603502
HP:0010546HP:0007289Limb fasciculations1MTMR14 CL E G H64419169189ORPHA17526190611089
HP:0010546HP:0001308Tongue fasciculations1MTMR14 CL E G H64419169189ORPHA111426190611089
HP:0010546HP:0007089Facial-lingual fasciculations1MTMR14 CL E G H64419169189ORPHA111426190611089
HP:0010546HP:0001308Tongue fasciculations1MTMR14 CL E G H64419169189ORPHA17526190611089
HP:0010546HP:0007089Facial-lingual fasciculations1MTMR14 CL E G H64419169189ORPHA17526190611089
HP:0010546HP:0007289Limb fasciculations1MTMR14 CL E G H64419169189ORPHA111426190611089
HP:0010546HP:0001308Tongue fasciculations1MYF6 CL E G H4618169189ORPHA1747566159991
HP:0010546HP:0007089Facial-lingual fasciculations1MYF6 CL E G H4618169189ORPHA1747566159991
HP:0010546HP:0007289Limb fasciculations1MYF6 CL E G H4618169189ORPHA1797566159991
HP:0010546HP:0007289Limb fasciculations1MYF6 CL E G H4618169189ORPHA1747566159991
HP:0010546HP:0001308Tongue fasciculations1MYF6 CL E G H4618169189ORPHA1797566159991
HP:0010546HP:0007089Facial-lingual fasciculations1MYF6 CL E G H4618169189ORPHA1797566159991
HP:0010546HP:0007289Limb fasciculations1RYR1 CL E G H6261169189ORPHA1410110483180901
HP:0010546HP:0001308Tongue fasciculations1RYR1 CL E G H6261169189ORPHA1460410483180901
HP:0010546HP:0007089Facial-lingual fasciculations1RYR1 CL E G H6261169189ORPHA1460410483180901
HP:0010546HP:0001308Tongue fasciculations1RYR1 CL E G H6261169189ORPHA1410110483180901
HP:0010546HP:0007089Facial-lingual fasciculations1RYR1 CL E G H6261169189ORPHA1410110483180901
HP:0010546HP:0007289Limb fasciculations1RYR1 CL E G H6261169189ORPHA1460410483180901
HP:0010546HP:0007289Limb fasciculations1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM14029947608112
HP:0010546HP:0007089Facial-lingual fasciculations1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM17129947608112
HP:0010546HP:0001308Tongue fasciculations1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM17129947608112
HP:0010546HP:0007089Facial-lingual fasciculations1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM14029947608112
HP:0010546HP:0001308Tongue fasciculations1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM14029947608112
HP:0010546HP:0007289Limb fasciculations1TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM17129947608112
HP:0010546HP:0032507Labiomental fasciculations2BIN1 CL E G H274169189ORPHA14311052601248
HP:0010546HP:0032507Labiomental fasciculations2BIN1 CL E G H274169189ORPHA14871052601248
HP:0010546HP:0032507Labiomental fasciculations2DNM2 CL E G H1785169189ORPHA17662974602378
HP:0010546HP:0032507Labiomental fasciculations2DNM2 CL E G H1785169189ORPHA16752974602378
HP:0010546HP:0032507Labiomental fasciculations2DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM123583097603009
HP:0010546HP:0032507Labiomental fasciculations2DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM121293097603009
HP:0010546HP:0032507Labiomental fasciculations2IFRD1 CL E G H347598771ORPHA1515456603502
HP:0010546HP:0032507Labiomental fasciculations2IFRD1 CL E G H347598771ORPHA1505456603502
HP:0010546HP:0032507Labiomental fasciculations2MTMR14 CL E G H64419169189ORPHA17526190611089
HP:0010546HP:0032507Labiomental fasciculations2MTMR14 CL E G H64419169189ORPHA111426190611089
HP:0010546HP:0032507Labiomental fasciculations2MYF6 CL E G H4618169189ORPHA1797566159991
HP:0010546HP:0032507Labiomental fasciculations2MYF6 CL E G H4618169189ORPHA1747566159991
HP:0010546HP:0032507Labiomental fasciculations2RYR1 CL E G H6261169189ORPHA1410110483180901
HP:0010546HP:0032507Labiomental fasciculations2RYR1 CL E G H6261169189ORPHA1460410483180901
HP:0010546HP:0032507Labiomental fasciculations2TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM14029947608112
HP:0010546HP:0032507Labiomental fasciculations2TRAK1 CL E G H22906618201EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 68618201OMIM17129947608112
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (25) :AIFM1 ASAH1 ATXN3 BIN1 DNM2 DYSF EXOSC3 HINT1 HSPB1 IFRD1 MTMR14 MYF6 NOP56 OPTN RMND1 RYR1 SH3TC2 SLC52A2 SLC52A3 SMN1 TBCD TRAK1 TSPYL1 UBA1 VCP

Diseases (28) :169189 254130 98771 618201 238329 159950 276244 276238 276241 109150 614678 324442 99940 276198 614153 613435 614922 601596 614707 211530 253400 271150 253550 253300 617193 608800 301830 329475
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.