Human Phenotype Ontology 
Grandparent Node:
expand
Abnormal central motor function (HP:0011442)help
Parent Node:
expand
Paralysis (HP:0003470)help
..Starting node
..expand
Periodic paralysis (HP:0003768)help
Term ID: 3768
Name: Periodic paralysis
Synonym: Episodic paralysis
Definition: Episodes of muscle weakness.
Comments:
Reference: HP:0003768
Genes and Diseases:
 
       Child Nodes:
........expandPeriodic hyperkalemic paralysis (HP:0007215) help
........expandPeriodic hypokalemic paresis (HP:0008153) help

 Sister Nodes: 
..expandDiaphragmatic paralysis (HP:0006597) help
..expandFacial paralysis (HP:0007209) help
..expandPseudobulbar paralysis (HP:0007024) help
..expandRespiratory paralysis (HP:0002203) help
..expandVocal cord paralysis (HP:0001605) 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:0003768HP:0003768Periodic paralysis0ABCB6 CL E G H1005847OMIM:609153Pseudohyperkalemia, familial, 2, due to red cell leak20
HP:0003768HP:0003768Periodic paralysis0CA2 CL E G H7601373OMIM:259730Osteopetrosis, autosomal recessive 329
HP:0003768HP:0003768Periodic paralysis0CACNA1S CL E G H7791397ORPHA:681Hypokalemic periodic paralysis247
HP:0003768HP:0003768Periodic paralysis0CACNA1S CL E G H7791397OMIM:170400Hypokalemic periodic paralysis, type 1247
HP:0003768HP:0003768Periodic paralysis0CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysis247
HP:0003768HP:0003768Periodic paralysis0CACNA1S CL E G H7791397OMIM:188580Thyrotoxic periodic paralysis, susceptibility to, 1.247
HP:0003768HP:0003768Periodic paralysis0CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenoma636
HP:0003768HP:0003768Periodic paralysis0FAH CL E G H21843579OMIM:276700Tyrosinemia, type I.107
HP:0003768HP:0003768Periodic paralysis0GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysis
HP:0003768HP:0003768Periodic paralysis0KCNE3 CL E G H100086243ORPHA:681Hypokalemic periodic paralysis73
HP:0003768HP:0003768Periodic paralysis0KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysis10
HP:0003768HP:0003768Periodic paralysis0KCNJ18 CL E G H10013444439080OMIM:613239Thyrotoxic periodic paralysis, susceptibility to, 2.10
HP:0003768HP:0003768Periodic paralysis0KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis.193
HP:0003768HP:0003768Periodic paralysis0KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndromeHP:0040280 - Obligate193
HP:0003768HP:0003768Periodic paralysis0KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndromeHP:0040280 - Obligate128
HP:0003768HP:0003768Periodic paralysis0SCN4A CL E G H632910591ORPHA:682Hyperkalemic periodic paralysis263
HP:0003768HP:0003768Periodic paralysis0SCN4A CL E G H632910591OMIM:170500Hyperkalemic periodic paralysis263
HP:0003768HP:0003768Periodic paralysis0SCN4A CL E G H632910591ORPHA:681Hypokalemic periodic paralysis263
HP:0003768HP:0003768Periodic paralysis0SCN4A CL E G H632910591OMIM:170400Hypokalemic periodic paralysis, type 1263
HP:0003768HP:0003768Periodic paralysis0SCN4A CL E G H632910591OMIM:613345Hypokalemic periodic paralysis, type 2.263
HP:0003768HP:0003768Periodic paralysis0SCN4A CL E G H632910591ORPHA:684Paramyotonia congenita of Von Eulenburg263
HP:0003768HP:0008153Periodic hypokalemic paresis1CA2 CL E G H7601373OMIM:259730Osteopetrosis, autosomal recessive 3.29
HP:0003768HP:0008153Periodic hypokalemic paresis1CACNA1S CL E G H7791397ORPHA:681Hypokalemic periodic paralysisHP:0040280 - Obligate247
HP:0003768HP:0008153Periodic hypokalemic paresis1CACNA1S CL E G H7791397ORPHA:79102Thyrotoxic periodic paralysisHP:0040280 - Obligate247
HP:0003768HP:0008153Periodic hypokalemic paresis1CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenomaHP:0040283 - Occasional636
HP:0003768HP:0008153Periodic hypokalemic paresis1GABRA3 CL E G H25564077ORPHA:79102Thyrotoxic periodic paralysisHP:0040280 - Obligate
HP:0003768HP:0008153Periodic hypokalemic paresis1KCNE3 CL E G H100086243ORPHA:681Hypokalemic periodic paralysisHP:0040280 - Obligate73
HP:0003768HP:0008153Periodic hypokalemic paresis1KCNJ18 CL E G H10013444439080ORPHA:79102Thyrotoxic periodic paralysisHP:0040280 - Obligate10
HP:0003768HP:0008153Periodic hypokalemic paresis1KCNJ2 CL E G H37596263OMIM:170390Andersen cardiodysrhythmic periodic paralysis.193
HP:0003768HP:0007215Periodic hyperkalemic paralysis1KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional193
HP:0003768HP:0008153Periodic hypokalemic paresis1KCNJ2 CL E G H37596263ORPHA:37553Andersen-Tawil syndromeHP:0040282 - Frequent193
HP:0003768HP:0007215Periodic hyperkalemic paralysis1KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndromeHP:0040283 - Occasional128
HP:0003768HP:0008153Periodic hypokalemic paresis1KCNJ5 CL E G H37626266ORPHA:37553Andersen-Tawil syndromeHP:0040282 - Frequent128
HP:0003768HP:0007215Periodic hyperkalemic paralysis1SCN4A CL E G H632910591ORPHA:682Hyperkalemic periodic paralysisHP:0040281 - Very frequent263
HP:0003768HP:0007215Periodic hyperkalemic paralysis1SCN4A CL E G H632910591OMIM:170500Hyperkalemic periodic paralysis.263
HP:0003768HP:0008153Periodic hypokalemic paresis1SCN4A CL E G H632910591ORPHA:681Hypokalemic periodic paralysisHP:0040280 - Obligate263
HP:0003768HP:0008153Periodic hypokalemic paresis1SCN4A CL E G H632910591ORPHA:684Paramyotonia congenita of Von EulenburgHP:0040283 - Occasional263


Genes (11) :ABCB6 CA2 CACNA1S CDH23 FAH GABRA3 KCNE3 KCNJ18 KCNJ2 KCNJ5 SCN4A

Diseases (15) :OMIM:609153 OMIM:259730 ORPHA:681 OMIM:170400 ORPHA:79102 OMIM:188580 ORPHA:91347 OMIM:276700 OMIM:613239 OMIM:170390 ORPHA:37553 ORPHA:682 OMIM:170500 OMIM:613345 ORPHA:684
 

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