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
..expand
Handgrip myotonia (HP:0012899)help
Term ID: 12899
Name: Handgrip myotonia
Synonym: Grip myotonia
Definition: Difficulty releasing one's grip associated with prolonged first handgrip relaxation times.
Comments:
Reference: HP:0012899
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCold-sensitive myotonia (HP:0012904) help
..expandEMG: myotonic runs (HP:0003730) 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
..expandPercussion myotonia (HP:0010548) 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:0012899HP:0012899Handgrip myotonia0ACTA1 CL E G H58129ORPHA:97240Zebra body myopathyHP:0040281 - Very frequent96
HP:0012899HP:0012899Handgrip myotonia0CLCN1 CL E G H11802019OMIM:160800Myotonia congenita, autosomal dominant.133
HP:0012899HP:0012899Handgrip myotonia0CNBP CL E G H755513164OMIM:602668Dystrophia myotonica 21
HP:0012899HP:0012899Handgrip myotonia0HINT1 CL E G H30944912ORPHA:324442Autosomal recessive axonal neuropathy with neuromyotoniaHP:0040282 - Frequent12
HP:0012899HP:0012899Handgrip myotonia0PURA CL E G H58139701ORPHA:438216PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutationHP:0040283 - Occasional53
HP:0012899HP:0012899Handgrip myotonia0SCN4A CL E G H632910591ORPHA:99734Myotonia fluctuansHP:0040283 - Occasional263
HP:0012899HP:0012899Handgrip myotonia0SCN4A CL E G H632910591OMIM:608390Myotonia, potassium-aggravated263
HP:0012899HP:0012899Handgrip myotonia0SCN4A CL E G H632910591ORPHA:684Paramyotonia congenita of Von EulenburgHP:0040282 - Frequent263
HP:0012899HP:0012899Handgrip myotonia0SCN4A CL E G H632910591OMIM:168300Paramyotonia congenita of von eulenburg.263


Genes (6) :ACTA1 CLCN1 CNBP HINT1 PURA SCN4A

Diseases (9) :ORPHA:97240 OMIM:160800 OMIM:602668 ORPHA:324442 ORPHA:438216 ORPHA:99734 OMIM:608390 ORPHA:684 OMIM:168300
 

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