Human Phenotype Ontology 
Grandparent Node:
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Abnormal eye physiology (HP:0012373)help
Parent Node:
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Abnormality of eye movement (HP:0000496)help
..Starting node
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Abnormality of ocular smooth pursuit (HP:0000617)help
Term ID: 617
Name: Abnormality of ocular smooth pursuit
Synonym: Abnormal smooth pursuits; Disrupted ocular pursuit movements; Impaired smooth pursuit ocular movements; Irregular visual pursuit movements
Definition: An abnormality of eye movement characterized by impaired smooth-pursuit eye movements.
Comments:
Reference: HP:0000617
Genes and Diseases:
 
       Child Nodes:
........expandSaccadic smooth pursuit (HP:0001152) help
................... HP:0007792 Microsaccadic pursuit
................... HP:0007944 Intermittent microsaccadic pursuits
........expandImpaired pursuit initiation and maintenance (HP:0007668) help
........expandImpaired smooth pursuit (HP:0007772) help
................... HP:0001151 Impaired horizontal smooth pursuit
................... HP:0007179 Absent smooth pursuit
........expandJerky ocular pursuit movements (HP:0008003) help

 Sister Nodes: 
..expandAbnormal conjugate eye movement (HP:0000549) help
..expandAbnormal involuntary eye movements (HP:0012547) help
..expandAbnormal ocular alignment (HP:0500073) help
..expandAbnormal saccadic eye movements (HP:0000570) help
..expandAbnormal visual fixation (HP:0025404) help
..expandAbnormality of ocular abduction (HP:0011347) help
..expandCompensatory head posture (HP:0031705) help
..expandImpaired ocular adduction (HP:0000542) help
..expandLimited extraocular movements (HP:0007941) help
..expandMarcus Gunn jaw winking synkinesis (HP:0025186) help
..expandOculomotor apraxia (HP:0000657) help
..expandOphthalmoparesis (HP:0000597) help
..expandVisual gaze preference (HP:0025518) 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:0000617HP:0000617Abnormality of ocular smooth pursuit0AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0ALS2 CL E G H57679443OMIM:606353Primary lateral sclerosis, juvenile114
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxia64
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0ATN1 CL E G H18223033ORPHA:101Dentatorubral pallidoluysian atrophy16
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0ATP2B3 CL E G H492816ORPHA:314978X-linked non progressive cerebellar ataxia19
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 119
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0ATXN10 CL E G H2581410549OMIM:603516Spinocerebellar ataxia 109
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0ATXN10 CL E G H2581410549ORPHA:98761Spinocerebellar ataxia type 109
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 211
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease14
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0ATXN8 CL E G H72406632925OMIM:608768Spinocerebellar ataxia 81
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0ATXN8 CL E G H72406632925ORPHA:98760Spinocerebellar ataxia type 81
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0ATXN8OS CL E G H631510561OMIM:608768Spinocerebellar ataxia 81
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0ATXN8OS CL E G H631510561ORPHA:98760Spinocerebellar ataxia type 81
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0CACNA1A CL E G H7731388OMIM:108500Episodic ataxia, type 2449
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0CACNA1A CL E G H7731388OMIM:183086Spinocerebellar ataxia 6449
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0CACNA1G CL E G H89131394OMIM:616795Spinocerebellar ataxia 4232
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 4232
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome60
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0DPM2 CL E G H88183006ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsy26
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0EEF2 CL E G H19383214OMIM:609306Spinocerebellar ataxia 264
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0EEF2 CL E G H19383214ORPHA:101112Spinocerebellar ataxia type 264
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0ELOVL4 CL E G H678514415OMIM:133190Spinocerebellar ataxia 3462
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0FGF14 CL E G H22593671OMIM:193003Nystagmus 4, congenital, autosomal dominant47
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome30
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0FTL CL E G H25123999ORPHA:157846Neuroferritinopathy33
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0GBA2 CL E G H5770418986ORPHA:320391Autosomal recessive spastic paraplegia type 4630
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessive30
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxia107
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0GNB1 CL E G H27824396ORPHA:488613Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome12
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 4212
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1.111
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0ITPR1 CL E G H37086180OMIM:606658Spinocerebellar ataxia 15177
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0KCNC3 CL E G H37486235OMIM:605259Spinocerebellar ataxia 1317
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 1317
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0KCND3 CL E G H37526239OMIM:607346Spinocerebellar ataxia 1935
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0KCND3 CL E G H37526239ORPHA:98772Spinocerebellar ataxia type 19/2235
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0KCNN2 CL E G H37816291OMIM:619724DYSTONIA 34, MYOCLONIC; DYT34
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis136
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorderHP:0040283 - Occasional532
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0MRE11 CL E G H43617230OMIM:604391Ataxia-Telangiectasia-Like disorder 1532
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0NOP56 CL E G H1052815911OMIM:614153Spinocerebellar ataxia 369
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0PAFAH1B1 CL E G H50488574ORPHA:95232Lissencephaly due to LIS1 mutation231
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0PDHB CL E G H51628808ORPHA:255138Pyruvate dehydrogenase E1-beta deficiency37
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0PEX10 CL E G H51928851ORPHA:247815Autosomal recessive ataxia due to PEX10 deficiency75
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0PEX10 CL E G H51928851OMIM:614871Peroxisome biogenesis disorder 6B75
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0PIK3R5 CL E G H2353330035ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 211
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0PLA2G6 CL E G H83989039OMIM:610217Neurodegeneration with brain iron accumulation 2B133
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0PMPCA CL E G H2320318667OMIM:213200Spinocerebellar ataxia, autosomal recessive 27
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0POLR3A CL E G H1112830074OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism138
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndromeHP:0040282 - Frequent138
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0POLR3B CL E G H5570330348OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism67
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism67
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0PRDX3 CL E G H109359354OMIM:619862
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0PRKCG CL E G H55829402ORPHA:98763Spinocerebellar ataxia type 1483
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0PRNP CL E G H56219449OMIM:137440Gerstmann-Straussler disease69
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0PRNP CL E G H56219449ORPHA:157941Huntington disease-like 1HP:0040283 - Occasional69
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0RFC1 CL E G H59819969OMIM:614575Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0RNF170 CL E G H8179025358OMIM:619686SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG853
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0RUBCN CL E G H971128991ORPHA:404499Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency9
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0RUBCN CL E G H971128991OMIM:615705SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR159
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0SACS CL E G H2627810519OMIM:270550Spastic ataxia, Charlevoix-Saguenay type309
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome5
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0SETX CL E G H23064445ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2162
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1162
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11287
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0SPTBN2 CL E G H671211276ORPHA:352403Spectrin-associated autosomal recessive cerebellar ataxia126
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0SPTBN2 CL E G H671211276OMIM:600224Spinocerebellar ataxia 5126
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0SPTBN2 CL E G H671211276OMIM:615386Spinocerebellar ataxia, autosomal recessive 14126
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0STT3A CL E G H37036172ORPHA:370921STT3A-CDG21
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiency14
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0STXBP1 CL E G H681211444OMIM:612164Epileptic encephalopathy, early infantile, 4237
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0SYNE1 CL E G H2334517089ORPHA:88644Autosomal recessive ataxia, Beauce type1129
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0SYT14 CL E G H25592823143ORPHA:284271Autosomal recessive cerebellar ataxia-psychomotor delay syndromeHP:0040281 - Very frequent4
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0SYT14 CL E G H25592823143OMIM:614229Spinocerebellar ataxia, autosomal recessive 114
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome16
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 177
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0THG1L CL E G H5497426053OMIM:618800SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 2.45
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 219
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0TMEM240 CL E G H33945325186ORPHA:98773Spinocerebellar ataxia type 219
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0TPP1 CL E G H12002073ORPHA:284324Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia203
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0TPP1 CL E G H12002073OMIM:609270Spinocerebellar ataxia, autosomal recessive 7203
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0TSEN54 CL E G H28398927561OMIM:277470Pontocerebellar hypoplasia, type 2A102
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0TTBK2 CL E G H14605719141ORPHA:98767Spinocerebellar ataxia type 1157
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0TULP1 CL E G H728712423OMIM:613843Leber congenital amaurosis 1566
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defect2
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0XRCC1 CL E G H751512828OMIM:617633Spinocerebellar ataxia, autosomal recessive 264
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0XRCC4 CL E G H751812831OMIM:616541Short stature, microcephaly, and endocrine dysfunction9
HP:0000617HP:0000617Abnormality of ocular smooth pursuit0ZFYVE26 CL E G H2350320761ORPHA:100996Autosomal recessive spastic paraplegia type 15189
HP:0000617HP:0008003Jerky ocular pursuit movements1AARS1 CL E G H1620OMIM:619691TRICHOTHIODYSTROPHY 8, NONPHOTOSENSITIVE; TTD8
HP:0000617HP:0001152Saccadic smooth pursuit1ALS2 CL E G H57679443OMIM:606353Primary lateral sclerosis, juvenile.114
HP:0000617HP:0001152Saccadic smooth pursuit1ANO10 CL E G H5512925519ORPHA:284289Adult-onset autosomal recessive cerebellar ataxiaHP:0040282 - Frequent64
HP:0000617HP:0001152Saccadic smooth pursuit1ATN1 CL E G H18223033ORPHA:101Dentatorubral pallidoluysian atrophyHP:0040282 - Frequent16
HP:0000617HP:0001152Saccadic smooth pursuit1ATP2B3 CL E G H492816ORPHA:314978X-linked non progressive cerebellar ataxiaHP:0040282 - Frequent19
HP:0000617HP:0007772Impaired smooth pursuit1ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 119
HP:0000617HP:0007772Impaired smooth pursuit1ATXN10 CL E G H2581410549OMIM:603516Spinocerebellar ataxia 109
HP:0000617HP:0007772Impaired smooth pursuit1ATXN10 CL E G H2581410549ORPHA:98761Spinocerebellar ataxia type 10HP:0040282 - Frequent9
HP:0000617HP:0007772Impaired smooth pursuit1ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 211
HP:0000617HP:0007772Impaired smooth pursuit1ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease14
HP:0000617HP:0007772Impaired smooth pursuit1ATXN8 CL E G H72406632925OMIM:608768Spinocerebellar ataxia 8.1
HP:0000617HP:0007772Impaired smooth pursuit1ATXN8 CL E G H72406632925ORPHA:98760Spinocerebellar ataxia type 8HP:0040283 - Occasional1
HP:0000617HP:0007772Impaired smooth pursuit1ATXN8OS CL E G H631510561OMIM:608768Spinocerebellar ataxia 8.1
HP:0000617HP:0007772Impaired smooth pursuit1ATXN8OS CL E G H631510561ORPHA:98760Spinocerebellar ataxia type 8HP:0040283 - Occasional1
HP:0000617HP:0001152Saccadic smooth pursuit1CACNA1A CL E G H7731388OMIM:108500Episodic ataxia, type 2.449
HP:0000617HP:0007772Impaired smooth pursuit1CACNA1A CL E G H7731388OMIM:183086Spinocerebellar ataxia 6.449
HP:0000617HP:0001152Saccadic smooth pursuit1CACNA1G CL E G H89131394OMIM:616795Spinocerebellar ataxia 4232
HP:0000617HP:0001152Saccadic smooth pursuit1CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 42HP:0040282 - Frequent32
HP:0000617HP:0007668Impaired pursuit initiation and maintenance1DARS2 CL E G H5515725538ORPHA:137898Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndromeHP:0040284 - Very rare60
HP:0000617HP:0007772Impaired smooth pursuit1DPM2 CL E G H88183006ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsy26
HP:0000617HP:0007772Impaired smooth pursuit1EEF2 CL E G H19383214OMIM:609306Spinocerebellar ataxia 264
HP:0000617HP:0007772Impaired smooth pursuit1EEF2 CL E G H19383214ORPHA:101112Spinocerebellar ataxia type 264
HP:0000617HP:0007772Impaired smooth pursuit1ELOVL4 CL E G H678514415OMIM:133190Spinocerebellar ataxia 34.62
HP:0000617HP:0007772Impaired smooth pursuit1FGF14 CL E G H22593671OMIM:193003Nystagmus 4, congenital, autosomal dominant.47
HP:0000617HP:0001152Saccadic smooth pursuit1FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome30
HP:0000617HP:0007772Impaired smooth pursuit1FTL CL E G H25123999ORPHA:157846NeuroferritinopathyHP:0040283 - Occasional33
HP:0000617HP:0008003Jerky ocular pursuit movements1GBA2 CL E G H5770418986ORPHA:320391Autosomal recessive spastic paraplegia type 46HP:0040283 - Occasional30
HP:0000617HP:0008003Jerky ocular pursuit movements1GBA2 CL E G H5770418986OMIM:614409Spastic paraplegia 46, autosomal recessive.30
HP:0000617HP:0001152Saccadic smooth pursuit1GJB1 CL E G H27054283ORPHA:1175X-linked progressive cerebellar ataxiaHP:0040282 - Frequent107
HP:0000617HP:0007772Impaired smooth pursuit1GNB1 CL E G H27824396ORPHA:488613Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndromeHP:0040283 - Occasional12
HP:0000617HP:0007772Impaired smooth pursuit1GNB1 CL E G H27824396OMIM:616973Mental retardation, autosomal dominant 42.12
HP:0000617HP:0007772Impaired smooth pursuit1INPP5E CL E G H5662321474OMIM:213300Joubert syndrome 1.111
HP:0000617HP:0007772Impaired smooth pursuit1ITPR1 CL E G H37086180OMIM:606658Spinocerebellar ataxia 15.177
HP:0000617HP:0008003Jerky ocular pursuit movements1KCNC3 CL E G H37486235OMIM:605259Spinocerebellar ataxia 13.17
HP:0000617HP:0008003Jerky ocular pursuit movements1KCNC3 CL E G H37486235ORPHA:98768Spinocerebellar ataxia type 13HP:0040283 - Occasional17
HP:0000617HP:0001152Saccadic smooth pursuit1KCND3 CL E G H37526239OMIM:607346Spinocerebellar ataxia 1935
HP:0000617HP:0007772Impaired smooth pursuit1KCND3 CL E G H37526239ORPHA:98772Spinocerebellar ataxia type 19/22HP:0040283 - Occasional35
HP:0000617HP:0007772Impaired smooth pursuit1KCNN2 CL E G H37816291OMIM:619724DYSTONIA 34, MYOCLONIC; DYT34
HP:0000617HP:0007772Impaired smooth pursuit1MAN2B1 CL E G H41256826OMIM:248500Alpha-mannosidosis.HP:0003581 - Adult onset136
HP:0000617HP:0007772Impaired smooth pursuit1MRE11 CL E G H43617230OMIM:604391Ataxia-Telangiectasia-Like disorder 1.532
HP:0000617HP:0007772Impaired smooth pursuit1NOP56 CL E G H1052815911OMIM:614153Spinocerebellar ataxia 36.9
HP:0000617HP:0007772Impaired smooth pursuit1PAFAH1B1 CL E G H50488574ORPHA:95232Lissencephaly due to LIS1 mutationHP:0040282 - Frequent231
HP:0000617HP:0007772Impaired smooth pursuit1PDHB CL E G H51628808ORPHA:255138Pyruvate dehydrogenase E1-beta deficiencyHP:0040283 - Occasional37
HP:0000617HP:0007772Impaired smooth pursuit1PEX10 CL E G H51928851ORPHA:247815Autosomal recessive ataxia due to PEX10 deficiencyHP:0040282 - Frequent75
HP:0000617HP:0007772Impaired smooth pursuit1PEX10 CL E G H51928851OMIM:614871Peroxisome biogenesis disorder 6B.75
HP:0000617HP:0001152Saccadic smooth pursuit1PIK3R5 CL E G H2353330035ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2HP:0040282 - Frequent11
HP:0000617HP:0007772Impaired smooth pursuit1PLA2G6 CL E G H83989039OMIM:610217Neurodegeneration with brain iron accumulation 2B.133
HP:0000617HP:0001152Saccadic smooth pursuit1PMPCA CL E G H2320318667OMIM:213200Spinocerebellar ataxia, autosomal recessive 2.7
HP:0000617HP:0007772Impaired smooth pursuit1POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism67
HP:0000617HP:0001152Saccadic smooth pursuit1PRDX3 CL E G H109359354OMIM:619862
HP:0000617HP:0001152Saccadic smooth pursuit1PRKCG CL E G H55829402ORPHA:98763Spinocerebellar ataxia type 14HP:0040283 - Occasional83
HP:0000617HP:0007772Impaired smooth pursuit1PRNP CL E G H56219449OMIM:137440Gerstmann-Straussler disease.69
HP:0000617HP:0008003Jerky ocular pursuit movements1PRNP CL E G H56219449ORPHA:157941Huntington disease-like 1HP:0040283 - Occasional69
HP:0000617HP:0007772Impaired smooth pursuit1RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0000617HP:0007772Impaired smooth pursuit1RFC1 CL E G H59819969OMIM:614575Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0000617HP:0001152Saccadic smooth pursuit1RNF170 CL E G H8179025358OMIM:619686SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG853
HP:0000617HP:0001152Saccadic smooth pursuit1RUBCN CL E G H971128991ORPHA:404499Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiencyHP:0040282 - Frequent9
HP:0000617HP:0001152Saccadic smooth pursuit1RUBCN CL E G H971128991OMIM:615705SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR159
HP:0000617HP:0007772Impaired smooth pursuit1SACS CL E G H2627810519OMIM:270550Spastic ataxia, Charlevoix-Saguenay type.309
HP:0000617HP:0001152Saccadic smooth pursuit1SCYL1 CL E G H5741014372ORPHA:466794Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndromeHP:0040282 - Frequent5
HP:0000617HP:0001152Saccadic smooth pursuit1SETX CL E G H23064445ORPHA:64753Spinocerebellar ataxia with axonal neuropathy type 2HP:0040282 - Frequent162
HP:0000617HP:0001152Saccadic smooth pursuit1SETX CL E G H23064445OMIM:606002Spinocerebellar ataxia, autosomal recessive 1.162
HP:0000617HP:0001152Saccadic smooth pursuit1SPG11 CL E G H8020811226ORPHA:2822Autosomal recessive spastic paraplegia type 11HP:0040282 - Frequent287
HP:0000617HP:0008003Jerky ocular pursuit movements1SPTBN2 CL E G H671211276ORPHA:352403Spectrin-associated autosomal recessive cerebellar ataxiaHP:0040283 - Occasional126
HP:0000617HP:0007772Impaired smooth pursuit1SPTBN2 CL E G H671211276OMIM:600224Spinocerebellar ataxia 5.126
HP:0000617HP:0008003Jerky ocular pursuit movements1SPTBN2 CL E G H671211276OMIM:615386Spinocerebellar ataxia, autosomal recessive 14HP:0040283 - Occasional126
HP:0000617HP:0007772Impaired smooth pursuit1STT3A CL E G H37036172ORPHA:370921STT3A-CDGHP:0040282 - Frequent21
HP:0000617HP:0001152Saccadic smooth pursuit1STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040284 - Very rare14
HP:0000617HP:0007772Impaired smooth pursuit1STXBP1 CL E G H681211444OMIM:612164Epileptic encephalopathy, early infantile, 4237
HP:0000617HP:0007772Impaired smooth pursuit1SYNE1 CL E G H2334517089ORPHA:88644Autosomal recessive ataxia, Beauce typeHP:0040283 - Occasional1129
HP:0000617HP:0007772Impaired smooth pursuit1SYT14 CL E G H25592823143OMIM:614229Spinocerebellar ataxia, autosomal recessive 11.4
HP:0000617HP:0007772Impaired smooth pursuit1TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome16
HP:0000617HP:0007772Impaired smooth pursuit1TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0000617HP:0007668Impaired pursuit initiation and maintenance1TBP CL E G H690811588OMIM:607136Spinocerebellar ataxia 17.7
HP:0000617HP:0007772Impaired smooth pursuit1THG1L CL E G H5497426053OMIM:618800SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0000617HP:0001152Saccadic smooth pursuit1TMEM106B CL E G H5466422407OMIM:617964Leukodystrophy, hypomyelinating, 16
HP:0000617HP:0007772Impaired smooth pursuit1TMEM216 CL E G H5125925018OMIM:608091Joubert syndrome 2.45
HP:0000617HP:0001152Saccadic smooth pursuit1TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 219
HP:0000617HP:0001152Saccadic smooth pursuit1TMEM240 CL E G H33945325186ORPHA:98773Spinocerebellar ataxia type 219
HP:0000617HP:0001152Saccadic smooth pursuit1TPP1 CL E G H12002073ORPHA:284324Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxiaHP:0040282 - Frequent203
HP:0000617HP:0001152Saccadic smooth pursuit1TPP1 CL E G H12002073OMIM:609270Spinocerebellar ataxia, autosomal recessive 7.203
HP:0000617HP:0007772Impaired smooth pursuit1TSEN54 CL E G H28398927561OMIM:277470Pontocerebellar hypoplasia, type 2A.102
HP:0000617HP:0008003Jerky ocular pursuit movements1TTBK2 CL E G H14605719141ORPHA:98767Spinocerebellar ataxia type 11HP:0040281 - Very frequent57
HP:0000617HP:0007772Impaired smooth pursuit1TULP1 CL E G H728712423OMIM:613843Leber congenital amaurosis 15.66
HP:0000617HP:0007772Impaired smooth pursuit1WARS2 CL E G H1035212730ORPHA:572798WARS2-related combined oxidative phosphorylation defectHP:0040283 - Occasional2
HP:0000617HP:0001152Saccadic smooth pursuit1XRCC1 CL E G H751512828OMIM:617633Spinocerebellar ataxia, autosomal recessive 264
HP:0000617HP:0007772Impaired smooth pursuit1XRCC4 CL E G H751812831OMIM:616541Short stature, microcephaly, and endocrine dysfunction9
HP:0000617HP:0001152Saccadic smooth pursuit1ZFYVE26 CL E G H2350320761ORPHA:100996Autosomal recessive spastic paraplegia type 15HP:0040283 - Occasional189
HP:0000617HP:0001151Impaired horizontal smooth pursuit2ATXN1 CL E G H631010548OMIM:164400Spinocerebellar ataxia 1.19
HP:0000617HP:0001151Impaired horizontal smooth pursuit2ATXN2 CL E G H631110555OMIM:183090Spinocerebellar ataxia 2.11
HP:0000617HP:0001151Impaired horizontal smooth pursuit2ATXN3 CL E G H42877106OMIM:109150Machado-Joseph disease.14
HP:0000617HP:0007179Absent smooth pursuit2DPM2 CL E G H88183006ORPHA:329178Congenital muscular dystrophy with intellectual disability and severe epilepsyHP:0040282 - Frequent26
HP:0000617HP:0001151Impaired horizontal smooth pursuit2EEF2 CL E G H19383214OMIM:609306Spinocerebellar ataxia 26.4
HP:0000617HP:0001151Impaired horizontal smooth pursuit2EEF2 CL E G H19383214ORPHA:101112Spinocerebellar ataxia type 26HP:0040281 - Very frequent4
HP:0000617HP:0007179Absent smooth pursuit2FGF14 CL E G H22593671OMIM:193003Nystagmus 4, congenital, autosomal dominant.47
HP:0000617HP:0007944Intermittent microsaccadic pursuits2KCND3 CL E G H37526239OMIM:607346Spinocerebellar ataxia 19.35
HP:0000617HP:0001151Impaired horizontal smooth pursuit2POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism.67
HP:0000617HP:0007179Absent smooth pursuit2RARS1 CL E G H59179870ORPHA:438114RARS-related autosomal recessive hypomyelinating leukodystrophyHP:0040283 - Occasional
HP:0000617HP:0001151Impaired horizontal smooth pursuit2RFC1 CL E G H59819969OMIM:614575Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome.
HP:0000617HP:0001151Impaired horizontal smooth pursuit2STXBP1 CL E G H681211444OMIM:612164Epileptic encephalopathy, early infantile, 4.237
HP:0000617HP:0007179Absent smooth pursuit2TBCD CL E G H690411581ORPHA:496641Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndromeHP:0040282 - Frequent16
HP:0000617HP:0007179Absent smooth pursuit2TBCD CL E G H690411581OMIM:617193ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT16
HP:0000617HP:0007792Microsaccadic pursuit2TMEM240 CL E G H33945325186OMIM:607454Spinocerebellar ataxia 21.9
HP:0000617HP:0007944Intermittent microsaccadic pursuits2TMEM240 CL E G H33945325186ORPHA:98773Spinocerebellar ataxia type 21HP:0040281 - Very frequent9


Genes (70) :AARS1 ALS2 ANO10 ATN1 ATP2B3 ATXN1 ATXN10 ATXN2 ATXN3 ATXN8 ATXN8OS CACNA1A CACNA1G DARS2 DPM2 EEF2 ELOVL4 FGF14 FMR1 FTL GBA2 GJB1 GNB1 INPP5E ITPR1 KCNC3 KCND3 KCNN2 MAN2B1 MRE11 NOP56 PAFAH1B1 PDHB PEX10 PIK3R5 PLA2G6 PMPCA POLR3A POLR3B PRDX3 PRKCG PRNP RARS1 RFC1 RNF170 RUBCN SACS SCYL1 SETX SPG11 SPTBN2 STT3A STUB1 STXBP1 SYNE1 SYT14 TBCD TBP THG1L TMEM106B TMEM216 TMEM240 TPP1 TSEN54 TTBK2 TULP1 WARS2 XRCC1 XRCC4 ZFYVE26

Diseases (89) :OMIM:619691 OMIM:606353 ORPHA:284289 ORPHA:101 ORPHA:314978 OMIM:164400 OMIM:603516 ORPHA:98761 OMIM:183090 OMIM:109150 OMIM:608768 ORPHA:98760 OMIM:108500 OMIM:183086 OMIM:616795 ORPHA:458803 ORPHA:137898 ORPHA:329178 OMIM:609306 ORPHA:101112 OMIM:133190 OMIM:193003 OMIM:300623 ORPHA:157846 ORPHA:320391 OMIM:614409 ORPHA:1175 ORPHA:488613 OMIM:616973 OMIM:213300 OMIM:606658 OMIM:605259 ORPHA:98768 OMIM:607346 ORPHA:98772 OMIM:619724 OMIM:248500 ORPHA:251347 OMIM:604391 OMIM:614153 ORPHA:95232 ORPHA:255138 ORPHA:247815 OMIM:614871 ORPHA:64753 OMIM:610217 OMIM:213200 OMIM:607694 ORPHA:447896 OMIM:614381 OMIM:619862 ORPHA:98763 OMIM:137440 ORPHA:157941 ORPHA:438114 OMIM:614575 OMIM:619686 ORPHA:404499 OMIM:615705 OMIM:270550 ORPHA:466794 OMIM:606002 ORPHA:2822 ORPHA:352403 OMIM:600224 OMIM:615386 ORPHA:370921 ORPHA:412057 OMIM:612164 ORPHA:88644 ORPHA:284271 OMIM:614229 ORPHA:496641 OMIM:617193 OMIM:607136 OMIM:618800 OMIM:617964 OMIM:608091 OMIM:607454 ORPHA:98773 ORPHA:284324 OMIM:609270 OMIM:277470 ORPHA:98767 OMIM:613843 ORPHA:572798 OMIM:617633 OMIM:616541 ORPHA:100996
 

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