Human Phenotype Ontology 
Grandparent Node:
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Abnormal muscle physiology (HP:0011804)help
Parent Node:
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Myotonia (HP:0002486)help
..Starting node
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Percussion myotonia (HP:0010548)help
Term ID: 10548
Name: Percussion myotonia
Synonym: Transient swelling of muscle induced by percussion
Definition: A localized myotonic contraction in a muscle in reaction to percussion (tapping with the examiner's finger, a rubber percussion hammer, or a similar object).
Comments:
Reference: HP:0010548
Genes and Diseases:
 
       Child Nodes:
........expandMuscle mounding (HP:0003719) help
........expandPercussion-induced rapid rolling muscle contractions (HP:0003760) help

 Sister Nodes: 
..expandCold-sensitive myotonia (HP:0012904) help
..expandEMG: myotonic runs (HP:0003730) help
..expandHandgrip myotonia (HP:0012899) help
..expandMyotonia of the face (HP:0012900) help
..expandMyotonia of the jaw (HP:0012901) help
..expandMyotonia of the lower limb (HP:0012902) help
..expandMyotonia of the upper limb (HP:0012903) help
..expandMyotonia with warm-up phenomenon (HP:0003740) help
..expandParadoxical myotonia (HP:0011809) 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:0010548HP:0010548Percussion myotonia0CAV3 CL E G H8591529ORPHA:488650Distal myopathy, Tateyama type148
HP:0010548HP:0010548Percussion myotonia0CAV3 CL E G H8591529OMIM:606072Rippling muscle disease148
HP:0010548HP:0010548Percussion myotonia0CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 448
HP:0010548HP:0010548Percussion myotonia0CLCN1 CL E G H11802019OMIM:160800Myotonia congenita, autosomal dominant133
HP:0010548HP:0010548Percussion myotonia0CLCN1 CL E G H11802019OMIM:255700Myotonia congenita, autosomal recessive133
HP:0010548HP:0010548Percussion myotonia0DNAJB6 CL E G H1004914888ORPHA:34516DNAJB6-related limb-girdle muscular dystrophy D1HP:0040284 - Very rare103
HP:0010548HP:0010548Percussion myotonia0HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotonia12
HP:0010548HP:0010548Percussion myotonia0HSPG2 CL E G H33395273OMIM:255800Schwartz-jampel syndrome, type 1345
HP:0010548HP:0010548Percussion myotonia0SCN4A CL E G H632910591OMIM:608390Myotonia, potassium-aggravated263
HP:0010548HP:0010548Percussion myotonia0SCN4A CL E G H632910591OMIM:168300Paramyotonia congenita of von eulenburg.263
HP:0010548HP:0010548Percussion myotonia0SCN4A CL E G H632910591ORPHA:684Paramyotonia congenita of Von EulenburgHP:0040282 - Frequent263
HP:0010548HP:0010548Percussion myotonia0SVIL CL E G H684011480OMIM:619040MYOFIBRILLAR MYOPATHY 10; MFM101
HP:0010548HP:0003760Percussion-induced rapid rolling muscle contractions1CAV3 CL E G H8591529ORPHA:488650Distal myopathy, Tateyama typeHP:0040283 - Occasional148
HP:0010548HP:0003719Muscle mounding1CAV3 CL E G H8591529OMIM:606072Rippling muscle disease.148
HP:0010548HP:0003760Percussion-induced rapid rolling muscle contractions1CAV3 CL E G H8591529OMIM:606072Rippling muscle disease.148
HP:0010548HP:0003719Muscle mounding1CAVIN1 CL E G H2841199688OMIM:613327Lipodystrophy, congenital generalized, type 4.48
HP:0010548HP:0003760Percussion-induced rapid rolling muscle contractions1HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040283 - Occasional12


Genes (8) :CAV3 CAVIN1 CLCN1 DNAJB6 HINT1 HSPG2 SCN4A SVIL

Diseases (12) :ORPHA:488650 OMIM:606072 OMIM:613327 OMIM:160800 OMIM:255700 ORPHA:34516 ORPHA:324442 OMIM:255800 OMIM:608390 OMIM:168300 ORPHA:684 OMIM:619040
 

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