Human Phenotype Ontology 
Grandparent Node:
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Abnormality of movement (HP:0100022)help
Parent Node:
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Involuntary movements (HP:0004305)help
..Starting node
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Athetosis (HP:0002305)help
Term ID: 2305
Name: Athetosis
Synonym: Athetoid movements; Involuntary writhing movements; Involuntary writhing movements in fingers, hands, toes, and feet
Definition: A slow, continuous, involuntary writhing movement that prevents maintenance of a stable posture. Athetosis involves continuous smooth movements that appear random and are not composed of recognizable sub-movements or movement fragments. In contrast to chorea, in athetosis, the same regions of the body are repeatedly involved. Athetosis may worsen with attempts at movement of posture, but athetosis can also occur at rest.
Comments:
Reference: HP:0002305
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandChorea (HP:0002072) help
..expandClonus (HP:0002169) help
..expandFasciculations (HP:0002380) help
..expandHemiballismus (HP:0100248) help
..expandIntermittent painful muscle spasms (HP:0011964) help
..expandMyoclonus (HP:0001336) help
..expandParoxysmal dyskinesia (HP:0007166) help
..expandSelf-mutilation of tongue and lips due to involuntary movements (HP:0008767) help
..expandStereotypy (HP:0000733) help
..expandTics (HP:0100033) help
..expandTremor (HP:0001337) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0002305HP:0002305Athetosis0ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1410118100850
HP:0002305HP:0002305Athetosis0ACO2 CL E G H50614559Infantile cerebellar-retinal degeneration614559C3281192OMIM1284118100850
HP:0002305HP:0002305Athetosis0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM13929722138250
HP:0002305HP:0002305Athetosis0ALDH18A1 CL E G H5832219150Cutis laxa-corneal clouding-oligophrenia syndrome219150C0268354OMIM13469722138250
HP:0002305HP:0002305Athetosis0AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1145890600529
HP:0002305HP:0002305Athetosis0AUH CL E G H5492509503-Methylglutaconic aciduria type 1250950C0342727OMIM1177890600529
HP:0002305HP:0002305Athetosis0CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM120471388601011
HP:0002305HP:0002305Athetosis0CACNA1A CL E G H773617106Epileptic encephalopathy, early infantile, 42617106C4310716OMIM123261388601011
HP:0002305HP:0002305Athetosis0CACNA1D CL E G H776369929ORPHA17441391114206
HP:0002305HP:0002305Athetosis0CACNA1D CL E G H776369929ORPHA14771391114206
HP:0002305HP:0002305Athetosis0CUX2 CL E G H23316618141EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67618141OMIM17519347610648
HP:0002305HP:0002305Athetosis0CUX2 CL E G H23316618141EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 67618141OMIM16819347610648
HP:0002305HP:0002305Athetosis0EPRS CL E G H2058617951LEUKODYSTROPHY, HYPOMYELINATING, 15617951CN244566OMIM13418138295
HP:0002305HP:0002305Athetosis0FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM14913811164874
HP:0002305HP:0002305Athetosis0FOXG1 CL E G H2290613454Rett syndrome, congenital variant613454C3150705OMIM15343811164874
HP:0002305HP:0002305Athetosis0FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM123126927613622
HP:0002305HP:0002305Athetosis0FOXRED1 CL E G H55572618241MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19618241OMIM121026927613622
HP:0002305HP:0002305Athetosis0GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM12854389139311
HP:0002305HP:0002305Athetosis0GNAO1 CL E G H2775617493Neurodevelopmental disorder with involuntary movements617493C4479569OMIM12554389139311
HP:0002305HP:0002305Athetosis0KCNA1 CL E G H373698809Paroxysmal kinesigenic dyskinesiaCN207123ORPHA14386218176260
HP:0002305HP:0002305Athetosis0KCNA1 CL E G H373698809Paroxysmal kinesigenic dyskinesiaCN207123ORPHA13906218176260
HP:0002305HP:0002305Athetosis0KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM13696323602821
HP:0002305HP:0002305Athetosis0KIF5A CL E G H3798617235Myoclonus, intractable, neonatal617235C4310658OMIM15486323602821
HP:0002305HP:0002305Athetosis0NDE1 CL E G H54820605013Microhydranencephaly605013C1857977OMIM1137017619609449
HP:0002305HP:0002305Athetosis0NDE1 CL E G H54820605013Microhydranencephaly605013C1857977OMIM1132017619609449
HP:0002305HP:0002305Athetosis0NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM148517646610661
HP:0002305HP:0002305Athetosis0NGLY1 CL E G H55768615273Congenital disorder of deglycosylation615273C3808991OMIM138117646610661
HP:0002305HP:0002305Athetosis0PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM1938800190040
HP:0002305HP:0002305Athetosis0PDGFB CL E G H5155213600Idiopathic basal ganglia calcification 1213600C0393590OMIM1958800190040
HP:0002305HP:0002305Athetosis0PDGFB CL E G H5155615483Idiopathic basal ganglia calcification 5615483C3809645OMIM1958800190040
HP:0002305HP:0002305Athetosis0PDGFB CL E G H5155615483Idiopathic basal ganglia calcification 5615483C3809645OMIM1938800190040
HP:0002305HP:0002305Athetosis0PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM13048804173410
HP:0002305HP:0002305Athetosis0PDGFRB CL E G H5159213600Idiopathic basal ganglia calcification 1213600C0393590OMIM12838804173410
HP:0002305HP:0002305Athetosis0PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM120126031610274
HP:0002305HP:0002305Athetosis0PIGV CL E G H55650239300Hyperphosphatasia with mental retardation syndrome 1239300CN030519OMIM113126031610274
HP:0002305HP:0002305Athetosis0PRRT2 CL E G H11247698809Paroxysmal kinesigenic dyskinesiaCN207123ORPHA165930500614386
HP:0002305HP:0002305Athetosis0PRRT2 CL E G H11247698809Paroxysmal kinesigenic dyskinesiaCN207123ORPHA159730500614386
HP:0002305HP:0002305Athetosis0SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM131810923300095
HP:0002305HP:0002305Athetosis0SLC16A2 CL E G H6567300523Allan-Herndon-Dudley syndrome300523C0795889OMIM129010923300095
HP:0002305HP:0002305Athetosis0SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM128510933604322
HP:0002305HP:0002305Athetosis0SLC17A5 CL E G H26503604369Salla disease604369C1096903OMIM133510933604322
HP:0002305HP:0002305Athetosis0SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM122010947158378
HP:0002305HP:0002305Athetosis0SLC20A2 CL E G H6575213600Idiopathic basal ganglia calcification 1213600C0393590OMIM124810947158378
HP:0002305HP:0002305Athetosis0SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM117330521611672
HP:0002305HP:0002305Athetosis0SLC46A1 CL E G H113235229050Congenital defect of folate absorption229050C0342705OMIM123730521611672
HP:0002305HP:0002305Athetosis0SLC6A8 CL E G H653552503ORPHA177011055300036
HP:0002305HP:0002305Athetosis0SLC6A8 CL E G H653552503ORPHA171611055300036
HP:0002305HP:0002305Athetosis0SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM165211120607608
HP:0002305HP:0002305Athetosis0SMPD1 CL E G H6609257200Niemann-Pick disease, type A257200C0268242OMIM160511120607608
HP:0002305HP:0002305Athetosis0SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM124411448603921
HP:0002305HP:0002305Athetosis0SUCLA2 CL E G H8803612073Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)612073C2749864OMIM127711448603921
HP:0002305HP:0002305Athetosis0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM157325751614138
HP:0002305HP:0002305Athetosis0TRAPPC11 CL E G H60684615356Limb-girdle muscular dystrophy, type 2S615356C3809236OMIM167325751614138
HP:0002305HP:0002305Athetosis0TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM12341160606075
HP:0002305HP:0002305Athetosis0TWNK CL E G H56652271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)271245C1849096OMIM12701160606075
HP:0002305HP:0002305Athetosis0UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM110923230610552
HP:0002305HP:0002305Athetosis0UBA5 CL E G H79876617132Epileptic encephalopathy, early infantile, 44617132C4310700OMIM15823230610552
HP:0002305HP:0002305Athetosis0UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM120012509300264
HP:0002305HP:0002305Athetosis0UBQLN2 CL E G H29978300857Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia300857C3275459OMIM121712509300264
HP:0002305HP:0002305Athetosis0UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM18929594612080
HP:0002305HP:0002305Athetosis0UQCRQ CL E G H27089615159Mitochondrial complex III deficiency, nuclear type 4615159C3554607OMIM19029594612080
HP:0002305HP:0002305Athetosis0WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM15212730604733
HP:0002305HP:0002305Athetosis0WARS2 CL E G H10352617710NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES617710C4540192OMIM16512730604733
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002305HP:0002305Athetosis0CACNA1D CL E G H776615474Primary aldosteronism, seizures, and neurologic abnormalities615474C3809609OMIM04771391114206
HP:0002305HP:0002305Athetosis0CACNA1D CL E G H776615474Primary aldosteronism, seizures, and neurologic abnormalities615474C3809609OMIM07441391114206
HP:0002305HP:0002305Athetosis0GNAO1 CL E G H2775615473Early infantile epileptic encephalopathy 17615473C3809606OMIM02854389139311
HP:0002305HP:0002305Athetosis0GNAO1 CL E G H2775615473Early infantile epileptic encephalopathy 17615473C3809606OMIM02554389139311
HP:0002305HP:0002305Athetosis0HCFC1 CL E G H3054309541Mental retardation 3, X-linked309541C0796208OMIM06344839300019
HP:0002305HP:0002305Athetosis0HCFC1 CL E G H3054309541Mental retardation 3, X-linked309541C0796208OMIM06014839300019
HP:0002305HP:0002305Athetosis0PHGDH CL E G H2622779351ORPHA04078923606879
HP:0002305HP:0002305Athetosis0PHGDH CL E G H2622779351ORPHA02818923606879
HP:0002305HP:0002305Athetosis0PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA07518967606097
HP:0002305HP:0002305Athetosis0PIGN CL E G H23556280633Multiple congenital anomalies-hypotonia-seizures syndromeCN228166ORPHA06518967606097
HP:0002305HP:0002305Athetosis0RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM012321686612944
HP:0002305HP:0002305Athetosis0RNASET2 CL E G H8635612951Leukoencephalopathy, cystic, without megalencephaly612951C2751843OMIM011521686612944


Genes (35) :ACO2 ALDH18A1 AUH CACNA1A CACNA1D CUX2 EPRS FOXG1 FOXRED1 GNAO1 HCFC1 KCNA1 KIF5A NDE1 NGLY1 PDGFB PDGFRB PHGDH PIGN PIGV PRRT2 RNASET2 SLC16A2 SLC17A5 SLC20A2 SLC46A1 SLC6A8 SMPD1 SUCLA2 TRAPPC11 TWNK UBA5 UBQLN2 UQCRQ WARS2

Diseases (35) :614559 219150 250950 617106 369929 615474 618141 617951 613454 618241 615473 617493 309541 98809 617235 605013 615273 213600 615483 79351 280633 239300 612951 300523 604369 229050 52503 257200 612073 615356 271245 617132 300857 615159 617710
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.