Human Phenotype Ontology 
Grandparent Node:
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Involuntary movements (HP:0004305)help
Parent Node:
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Myoclonus (HP:0001336)help
..Starting node
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Cortical myoclonus (HP:0040148)help
Term ID: 40148
Name: Cortical myoclonus
Synonym:
Definition: Cortical myoclonus mainly affects the distal upper limbs and face, which reflects the largest cortical representations of these body areas. It is often focal, but may be multifocal, bilateral or generalized, as a consequence of intracortical and transcallosal spreading of abnormal activity. It typically occurs on voluntary action and may affect speech and gait. Cortical myoclonic jerks are stimulus sensitive, typically to touch, but sensitivity to visual stimuli is also described. Most patients with cortical myoclonus have both positive myoclonus and NM, occurring either independently or together as a complex of the two kinds of myoclonus. If cortical myoclonus is prolonged and lasts for hours, days or weeks, it is called epilepsia partials continua and is considered to be a rare form of focal epileptic status. Focal cortical myoclonus almost always points to an underlining lesion of the sensori-motor cortex, which produces hyperexcitability (e.g. vascular, inflammatory or neoplastic).
Comments:
Reference: HP:0040148
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandChin myoclonus (HP:0012462) help
..expandErratic myoclonus (HP:0025357) help
..expandEyelid myoclonus (HP:0025097) help
..expandLimb myoclonus (HP:0045084) help
..expandMorning myoclonic jerks (HP:0007000) help
..expandMyoclonic spasms (HP:0003739) help
..expandPalatal tremor (HP:0010530) help
..expandSleep myoclonus (HP:0012323) help
..expandSpinal myoclonus (HP:0010531) 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:0040148HP:0040148Cortical myoclonus0CASR CL E G H8461514ORPHA:428Autosomal dominant hypocalcemiaHP:0040281 - Very frequent272
HP:0040148HP:0040148Cortical myoclonus0GNA11 CL E G H27674379ORPHA:428Autosomal dominant hypocalcemiaHP:0040281 - Very frequent16
HP:0040148HP:0040148Cortical myoclonus0PGM3 CL E G H52388907OMIM:615816Immunodeficiency 2315
HP:0040148HP:0040148Cortical myoclonus0PGM3 CL E G H52388907ORPHA:443811PGM3-CDGHP:0040283 - Occasional15
HP:0040148HP:0040148Cortical myoclonus0RAPGEF2 CL E G H969316854OMIM:618075EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7; FAME7
HP:0040148HP:0040148Cortical myoclonus0TNRC6A CL E G H2732711969OMIM:618074EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6
HP:0040148HP:0033054Myoclonic tremor1RAPGEF2 CL E G H969316854OMIM:618075EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7; FAME7
HP:0040148HP:0033054Myoclonic tremor1TNRC6A CL E G H2732711969OMIM:618074EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6; FAME6


Genes (5) :CASR GNA11 PGM3 RAPGEF2 TNRC6A

Diseases (5) :ORPHA:428 OMIM:615816 ORPHA:443811 OMIM:618075 OMIM:618074
 

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