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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Myokymia (HP:0002411)help
Term ID: 2411
Name: Myokymia
Synonym:
Definition: Myokymia consists of involuntary, fine, continuous, undulating contractions that spread across the affected striated muscle.
Comments:
Reference: HP:0002411
Genes and Diseases:
 
       Child Nodes:
........expandFacial myokymia (HP:0000317) help
........expandEyelid myokymia (HP:0031166) help
........expandEMG: myokymic discharges (HP:0100288) 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
..expandMuscle fibrillation (HP:0010546) 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:0002411HP:0002411Myokymia0HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11144912601314
HP:0002411HP:0002411Myokymia0HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11254912601314
HP:0002411HP:0002411Myokymia0KCNA1 CL E G H373637612ORPHA13906218176260
HP:0002411HP:0002411Myokymia0KCNA1 CL E G H373637612ORPHA14386218176260
HP:0002411HP:0002411Myokymia0KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM13906218176260
HP:0002411HP:0002411Myokymia0KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM14386218176260
HP:0002411HP:0002411Myokymia0KCNQ2 CL E G H3785121200Benign familial neonatal seizures 1121200C1852587OMIM113806296602235
HP:0002411HP:0002411Myokymia0KCNQ2 CL E G H3785121200Benign familial neonatal seizures 1121200C1852587OMIM115346296602235
HP:0002411HP:0002411Myokymia0MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM142523573616661
HP:0002411HP:0002411Myokymia0MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM147923573616661
HP:0002411HP:0002411Myokymia0PNKD CL E G H25953118800Paroxysmal nonkinesigenic dyskinesia 1118800OMIM13339153609023
HP:0002411HP:0002411Myokymia0PNKD CL E G H25953118800Paroxysmal nonkinesigenic dyskinesia 1118800OMIM13819153609023
HP:0002411HP:0002411Myokymia0UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM18312513191342
HP:0002411HP:0002411Myokymia0UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM19712513191342
HP:0002411HP:0100288EMG: myokymic discharges1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11144912601314
HP:0002411HP:0000317Facial myokymia1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11254912601314
HP:0002411HP:0031166Eyelid myokymia1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11254912601314
HP:0002411HP:0000317Facial myokymia1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11144912601314
HP:0002411HP:0031166Eyelid myokymia1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11144912601314
HP:0002411HP:0100288EMG: myokymic discharges1HINT1 CL E G H3094137200Neuromyotonia and axonal neuropathy, autosomal recessive137200CN074193OMIM11254912601314
HP:0002411HP:0100288EMG: myokymic discharges1KCNA1 CL E G H373637612ORPHA13906218176260
HP:0002411HP:0000317Facial myokymia1KCNA1 CL E G H373637612ORPHA14386218176260
HP:0002411HP:0031166Eyelid myokymia1KCNA1 CL E G H373637612ORPHA14386218176260
HP:0002411HP:0000317Facial myokymia1KCNA1 CL E G H373637612ORPHA13906218176260
HP:0002411HP:0031166Eyelid myokymia1KCNA1 CL E G H373637612ORPHA13906218176260
HP:0002411HP:0100288EMG: myokymic discharges1KCNA1 CL E G H373637612ORPHA14386218176260
HP:0002411HP:0100288EMG: myokymic discharges1KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM13906218176260
HP:0002411HP:0000317Facial myokymia1KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM14386218176260
HP:0002411HP:0031166Eyelid myokymia1KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM14386218176260
HP:0002411HP:0000317Facial myokymia1KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM13906218176260
HP:0002411HP:0031166Eyelid myokymia1KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM13906218176260
HP:0002411HP:0100288EMG: myokymic discharges1KCNA1 CL E G H3736160120Episodic ataxia type 1160120C1719788OMIM14386218176260
HP:0002411HP:0100288EMG: myokymic discharges1KCNQ2 CL E G H3785121200Benign familial neonatal seizures 1121200C1852587OMIM113806296602235
HP:0002411HP:0000317Facial myokymia1KCNQ2 CL E G H3785121200Benign familial neonatal seizures 1121200C1852587OMIM115346296602235
HP:0002411HP:0031166Eyelid myokymia1KCNQ2 CL E G H3785121200Benign familial neonatal seizures 1121200C1852587OMIM115346296602235
HP:0002411HP:0000317Facial myokymia1KCNQ2 CL E G H3785121200Benign familial neonatal seizures 1121200C1852587OMIM113806296602235
HP:0002411HP:0031166Eyelid myokymia1KCNQ2 CL E G H3785121200Benign familial neonatal seizures 1121200C1852587OMIM113806296602235
HP:0002411HP:0100288EMG: myokymic discharges1KCNQ2 CL E G H3785121200Benign familial neonatal seizures 1121200C1852587OMIM115346296602235
HP:0002411HP:0100288EMG: myokymic discharges1MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM142523573616661
HP:0002411HP:0031166Eyelid myokymia1MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM147923573616661
HP:0002411HP:0000317Facial myokymia1MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM147923573616661
HP:0002411HP:0031166Eyelid myokymia1MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM142523573616661
HP:0002411HP:0000317Facial myokymia1MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM142523573616661
HP:0002411HP:0100288EMG: myokymic discharges1MORC2 CL E G H22880616688Charcot-Marie-Tooth disease, axonal, type 2z616688C4225243OMIM147923573616661
HP:0002411HP:0100288EMG: myokymic discharges1PNKD CL E G H25953118800Paroxysmal nonkinesigenic dyskinesia 1118800OMIM13339153609023
HP:0002411HP:0031166Eyelid myokymia1PNKD CL E G H25953118800Paroxysmal nonkinesigenic dyskinesia 1118800OMIM13819153609023
HP:0002411HP:0000317Facial myokymia1PNKD CL E G H25953118800Paroxysmal nonkinesigenic dyskinesia 1118800OMIM13819153609023
HP:0002411HP:0000317Facial myokymia1PNKD CL E G H25953118800Paroxysmal nonkinesigenic dyskinesia 1118800OMIM13339153609023
HP:0002411HP:0031166Eyelid myokymia1PNKD CL E G H25953118800Paroxysmal nonkinesigenic dyskinesia 1118800OMIM13339153609023
HP:0002411HP:0100288EMG: myokymic discharges1PNKD CL E G H25953118800Paroxysmal nonkinesigenic dyskinesia 1118800OMIM13819153609023
HP:0002411HP:0100288EMG: myokymic discharges1UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM18312513191342
HP:0002411HP:0000317Facial myokymia1UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM19712513191342
HP:0002411HP:0031166Eyelid myokymia1UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM19712513191342
HP:0002411HP:0000317Facial myokymia1UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM18312513191342
HP:0002411HP:0031166Eyelid myokymia1UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM18312513191342
HP:0002411HP:0100288EMG: myokymic discharges1UCHL1 CL E G H7345615491Spastic paraplegia 79, autosomal recessive615491C3809665OMIM19712513191342
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (12) :ADCY5 ATP13A2 CACNA1G HINT1 KCNA1 KCNQ2 MORC2 PNKD PPP2R2B PRKCG SPTBN2 UCHL1

Diseases (16) :137200 37612 160120 121200 616688 118800 615491 324588 606703 513436 458803 616795 324442 604326 605361 600224
 

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