Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of movement (HP:0100022)help
Parent Node:
expand
Diminished movement (HP:0002374)help
..Starting node
..expand
Akinesia (HP:0002304)help
Term ID: 2304
Name: Akinesia
Synonym:
Definition: Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.
Comments:
Reference: HP:0002304
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHypokinesia (HP:0002375) 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:0002304HP:0002304Akinesia0ATP13A2 CL E G H2340030213OMIM:606693Kufor-Rakeb syndrome.100
HP:0002304HP:0002304Akinesia0CHRNA1 CL E G H11341955OMIM:253290Multiple pterygium syndrome, Lethal type.74
HP:0002304HP:0002304Akinesia0CHRND CL E G H11441965OMIM:253290Multiple pterygium syndrome, Lethal type.88
HP:0002304HP:0002304Akinesia0CHRNG CL E G H11461967OMIM:253290Multiple pterygium syndrome, Lethal type.68
HP:0002304HP:0002304Akinesia0CNTN1 CL E G H12722171OMIM:612540Myopathy, congenital, compton-north.40
HP:0002304HP:0002304Akinesia0CP CL E G H13562295ORPHA:48818AceruloplasminemiaHP:0040283 - Occasional115
HP:0002304HP:0002304Akinesia0DCTN1 CL E G H16392711OMIM:168605Perry syndrome86
HP:0002304HP:0002304Akinesia0DNAJC13 CL E G H2331730343ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent2
HP:0002304HP:0002304Akinesia0DNAJC6 CL E G H982915469ORPHA:391411Atypical juvenile parkinsonismHP:0040282 - Frequent6
HP:0002304HP:0002304Akinesia0DOK7 CL E G H28548926594ORPHA:994Fetal akinesia deformation sequenceHP:0040281 - Very frequent91
HP:0002304HP:0002304Akinesia0DPAGT1 CL E G H17982995ORPHA:86309DPAGT1-CDGHP:0040284 - Very rare38
HP:0002304HP:0002304Akinesia0EIF4G1 CL E G H19813296ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent2
HP:0002304HP:0002304Akinesia0ERBB3 CL E G H20653431OMIM:607598Lethal congenital contracture syndrome 2.12
HP:0002304HP:0002304Akinesia0FGF14 CL E G H22593671ORPHA:98764Spinocerebellar ataxia type 27HP:0040284 - Very rare47
HP:0002304HP:0002304Akinesia0FLVCR2 CL E G H5564020105OMIM:225790Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome.47
HP:0002304HP:0002304Akinesia0FXR1 CL E G H80874023OMIM:618822MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0002304HP:0002304Akinesia0GBA1 CL E G H26294177OMIM:608013Gaucher disease, perinatal lethal.
HP:0002304HP:0002304Akinesia0GBA1 CL E G H26294177ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent
HP:0002304HP:0002304Akinesia0GIGYF2 CL E G H2605811960ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent8
HP:0002304HP:0002304Akinesia0KARS1 CL E G H37356215OMIM:619147LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0002304HP:0002304Akinesia0LRRK2 CL E G H12089218618ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent221
HP:0002304HP:0002304Akinesia0MAPT CL E G H41376893ORPHA:240071Classic progressive supranuclear palsy syndromeHP:0040283 - Occasional140
HP:0002304HP:0002304Akinesia0MAPT CL E G H41376893ORPHA:240094Progressive supranuclear palsy-pure akinesia with gait freezing syndromeHP:0040280 - Obligate140
HP:0002304HP:0002304Akinesia0MAPT CL E G H41376893OMIM:601104Supranuclear palsy, progressive, 1.140
HP:0002304HP:0002304Akinesia0MUSK CL E G H45937525ORPHA:994Fetal akinesia deformation sequenceHP:0040281 - Very frequent72
HP:0002304HP:0002304Akinesia0MYOD1 CL E G H46547611ORPHA:994Fetal akinesia deformation sequenceHP:0040281 - Very frequent
HP:0002304HP:0002304Akinesia0NEB CL E G H47037720OMIM:619334ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6745
HP:0002304HP:0002304Akinesia0NR4A2 CL E G H49297981OMIM:61991127
HP:0002304HP:0002304Akinesia0NUP88 CL E G H49278067ORPHA:994Fetal akinesia deformation sequenceHP:0040281 - Very frequent
HP:0002304HP:0002304Akinesia0PANK2 CL E G H8002515894OMIM:234200Neurodegeneration with brain iron accumulation 1.55
HP:0002304HP:0002304Akinesia0PODXL CL E G H54209171ORPHA:391411Atypical juvenile parkinsonismHP:0040282 - Frequent6
HP:0002304HP:0002304Akinesia0RAPSN CL E G H59139863ORPHA:994Fetal akinesia deformation sequenceHP:0040281 - Very frequent73
HP:0002304HP:0002304Akinesia0SLC18A3 CL E G H657210936ORPHA:994Fetal akinesia deformation sequenceHP:0040281 - Very frequent2
HP:0002304HP:0002304Akinesia0SNCA CL E G H662211138ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent65
HP:0002304HP:0002304Akinesia0SYNJ1 CL E G H886711503ORPHA:391411Atypical juvenile parkinsonismHP:0040282 - Frequent9
HP:0002304HP:0002304Akinesia0TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 21.9
HP:0002304HP:0002304Akinesia0TMEM240 CL E G H33945325186ORPHA:98773Spinocerebellar ataxia type 21HP:0040282 - Frequent9
HP:0002304HP:0002304Akinesia0TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0002304HP:0002304Akinesia0TUBA1A CL E G H784620766ORPHA:994Fetal akinesia deformation sequenceHP:0040281 - Very frequent106
HP:0002304HP:0002304Akinesia0VPS13C CL E G H5483223594OMIM:616840Parkinson disease 23, autosomal recessive early-onset.8
HP:0002304HP:0002304Akinesia0VPS35 CL E G H5573713487ORPHA:411602Hereditary late-onset Parkinson diseaseHP:0040282 - Frequent37
HP:0002304HP:0002304Akinesia0VPS35 CL E G H5573713487OMIM:614203Parkinson disease 17.37
HP:0002304HP:0033412Upper extremity akinesia1 CL E G H
HP:0002304HP:0033411Lower extremity akinesia1 CL E G H


Genes (37) :ATP13A2 CHRNA1 CHRND CHRNG CNTN1 CP DCTN1 DNAJC13 DNAJC6 DOK7 DPAGT1 EIF4G1 ERBB3 FGF14 FLVCR2 FXR1 GBA1 GIGYF2 KARS1 LRRK2 MAPT MUSK MYOD1 NEB NR4A2 NUP88 PANK2 PODXL RAPSN SLC18A3 SNCA SYNJ1 TMEM240 TOR1A TUBA1A VPS13C VPS35

Diseases (26) :OMIM:606693 OMIM:253290 OMIM:612540 ORPHA:48818 OMIM:168605 ORPHA:411602 ORPHA:391411 ORPHA:994 ORPHA:86309 OMIM:607598 ORPHA:98764 OMIM:225790 OMIM:618822 OMIM:608013 OMIM:619147 ORPHA:240071 ORPHA:240094 OMIM:601104 OMIM:619334 OMIM:619911 OMIM:234200 OMIM:607454 ORPHA:98773 OMIM:618947 OMIM:616840 OMIM:614203
 

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