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: ........Muscle mounding (HP:0003719) ........Percussion-induced rapid rolling muscle contractions (HP:0003760) Sister Nodes: ..Cold-sensitive myotonia (HP:0012904) ..EMG: myotonic runs (HP:0003730) ..Handgrip myotonia (HP:0012899) ..Myotonia of the face (HP:0012900) ..Myotonia of the jaw (HP:0012901) ..Myotonia of the lower limb (HP:0012902) ..Myotonia of the upper limb (HP:0012903) ..Myotonia with warm-up phenomenon (HP:0003740) ..Paradoxical myotonia (HP:0011809) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HPO disease - gene - phenotype typical associations: HPO disease - gene - phenotype less frequent non-typical associations: HP:0010548 HP:0010548 Percussion myotonia 0 CAV3 CL E G H 859 1529 ORPHA:488650 Distal myopathy, Tateyama type 148 HP:0010548 HP:0010548 Percussion myotonia 0 CAV3 CL E G H 859 1529 OMIM:606072 Rippling muscle disease 148 HP:0010548 HP:0010548 Percussion myotonia 0 CAVIN1 CL E G H 284119 9688 OMIM:613327 Lipodystrophy, congenital generalized, type 4 48 HP:0010548 HP:0010548 Percussion myotonia 0 CLCN1 CL E G H 1180 2019 OMIM:160800 Myotonia congenita, autosomal dominant 133 HP:0010548 HP:0010548 Percussion myotonia 0 CLCN1 CL E G H 1180 2019 OMIM:255700 Myotonia congenita, autosomal recessive 133 HP:0010548 HP:0010548 Percussion myotonia 0 DNAJB6 CL E G H 10049 14888 ORPHA:34516 DNAJB6-related limb-girdle muscular dystrophy D1 HP:0040284 - Very rare 103 HP:0010548 HP:0010548 Percussion myotonia 0 HINT1 CL E G H 3094 4912 ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia 12 HP:0010548 HP:0010548 Percussion myotonia 0 HSPG2 CL E G H 3339 5273 OMIM:255800 Schwartz-jampel syndrome, type 1 345 HP:0010548 HP:0010548 Percussion myotonia 0 SCN4A CL E G H 6329 10591 OMIM:608390 Myotonia, potassium-aggravated 263 HP:0010548 HP:0010548 Percussion myotonia 0 SCN4A CL E G H 6329 10591 OMIM:168300 Paramyotonia congenita of von eulenburg . 263 HP:0010548 HP:0010548 Percussion myotonia 0 SCN4A CL E G H 6329 10591 ORPHA:684 Paramyotonia congenita of Von Eulenburg HP:0040282 - Frequent 263 HP:0010548 HP:0010548 Percussion myotonia 0 SVIL CL E G H 6840 11480 OMIM:619040 MYOFIBRILLAR MYOPATHY 10; MFM10 1 HP:0010548 HP:0003760 Percussion-induced rapid rolling muscle contractions 1 CAV3 CL E G H 859 1529 ORPHA:488650 Distal myopathy, Tateyama type HP:0040283 - Occasional 148 HP:0010548 HP:0003760 Percussion-induced rapid rolling muscle contractions 1 CAV3 CL E G H 859 1529 OMIM:606072 Rippling muscle disease . 148 HP:0010548 HP:0003719 Muscle mounding 1 CAV3 CL E G H 859 1529 OMIM:606072 Rippling muscle disease . 148 HP:0010548 HP:0003719 Muscle mounding 1 CAVIN1 CL E G H 284119 9688 OMIM:613327 Lipodystrophy, congenital generalized, type 4 . 48 HP:0010548 HP:0003760 Percussion-induced rapid rolling muscle contractions 1 HINT1 CL E G H 3094 4912 ORPHA:324442 Autosomal recessive axonal neuropathy with neuromyotonia HP:0040283 - Occasional 12
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.