Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormality of eye movement (HP:0000496)

Parent Node:
Abnormality of ocular smooth pursuit (HP:0000617)

..Starting node
..Impaired smooth pursuit (HP:0007772)

Term ID:

7772

Name:

Impaired smooth pursuit

Synonym:

Abnormal visual pursuit; Abnormality of visual tracking; Impairment of visual pursuit

Definition:

An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.

Comments:

Reference:

HP:0007772

Genes and Diseases:

Child Nodes:

........

Impaired horizontal smooth pursuit (HP:0001151)

........

Absent smooth pursuit (HP:0007179)

Sister Nodes:

Impaired pursuit initiation and maintenance (HP:0007668)

Jerky ocular pursuit movements (HP:0008003)

Saccadic smooth pursuit (HP:0001152)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007772	HP:0007772	Impaired smooth pursuit	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1			19
HP:0007772	HP:0007772	Impaired smooth pursuit	0	ATXN10 CL E G H	25814	10549	OMIM:603516	Spinocerebellar ataxia 10			9
HP:0007772	HP:0007772	Impaired smooth pursuit	0	ATXN10 CL E G H	25814	10549	ORPHA:98761	Spinocerebellar ataxia type 10	HP:0040282 - Frequent		9
HP:0007772	HP:0007772	Impaired smooth pursuit	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2			11
HP:0007772	HP:0007772	Impaired smooth pursuit	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease			14
HP:0007772	HP:0007772	Impaired smooth pursuit	0	ATXN8 CL E G H	724066	32925	OMIM:608768	Spinocerebellar ataxia 8	.		1
HP:0007772	HP:0007772	Impaired smooth pursuit	0	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040283 - Occasional		1
HP:0007772	HP:0007772	Impaired smooth pursuit	0	ATXN8OS CL E G H	6315	10561	OMIM:608768	Spinocerebellar ataxia 8	.		1
HP:0007772	HP:0007772	Impaired smooth pursuit	0	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040283 - Occasional		1
HP:0007772	HP:0007772	Impaired smooth pursuit	0	CACNA1A CL E G H	773	1388	OMIM:183086	Spinocerebellar ataxia 6	.		449
HP:0007772	HP:0007772	Impaired smooth pursuit	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0007772	HP:0007772	Impaired smooth pursuit	0	EEF2 CL E G H	1938	3214	OMIM:609306	Spinocerebellar ataxia 26			4
HP:0007772	HP:0007772	Impaired smooth pursuit	0	EEF2 CL E G H	1938	3214	ORPHA:101112	Spinocerebellar ataxia type 26			4
HP:0007772	HP:0007772	Impaired smooth pursuit	0	ELOVL4 CL E G H	6785	14415	OMIM:133190	Spinocerebellar ataxia 34	.		62
HP:0007772	HP:0007772	Impaired smooth pursuit	0	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant	.		47
HP:0007772	HP:0007772	Impaired smooth pursuit	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040283 - Occasional		33
HP:0007772	HP:0007772	Impaired smooth pursuit	0	GNB1 CL E G H	2782	4396	ORPHA:488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0007772	HP:0007772	Impaired smooth pursuit	0	GNB1 CL E G H	2782	4396	OMIM:616973	Mental retardation, autosomal dominant 42	.		12
HP:0007772	HP:0007772	Impaired smooth pursuit	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.		111
HP:0007772	HP:0007772	Impaired smooth pursuit	0	ITPR1 CL E G H	3708	6180	OMIM:606658	Spinocerebellar ataxia 15	.		177
HP:0007772	HP:0007772	Impaired smooth pursuit	0	KCND3 CL E G H	3752	6239	ORPHA:98772	Spinocerebellar ataxia type 19/22	HP:0040283 - Occasional		35
HP:0007772	HP:0007772	Impaired smooth pursuit	0	KCNN2 CL E G H	3781	6291	OMIM:619724	DYSTONIA 34, MYOCLONIC; DYT34
HP:0007772	HP:0007772	Impaired smooth pursuit	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.	HP:0003581 - Adult onset	136
HP:0007772	HP:0007772	Impaired smooth pursuit	0	MRE11 CL E G H	4361	7230	OMIM:604391	Ataxia-Telangiectasia-Like disorder 1	.		532
HP:0007772	HP:0007772	Impaired smooth pursuit	0	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36	.		9
HP:0007772	HP:0007772	Impaired smooth pursuit	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040282 - Frequent		231
HP:0007772	HP:0007772	Impaired smooth pursuit	0	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency	HP:0040283 - Occasional		37
HP:0007772	HP:0007772	Impaired smooth pursuit	0	PEX10 CL E G H	5192	8851	ORPHA:247815	Autosomal recessive ataxia due to PEX10 deficiency	HP:0040282 - Frequent		75
HP:0007772	HP:0007772	Impaired smooth pursuit	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B	.		75
HP:0007772	HP:0007772	Impaired smooth pursuit	0	PLA2G6 CL E G H	8398	9039	OMIM:610217	Neurodegeneration with brain iron accumulation 2B	.		133
HP:0007772	HP:0007772	Impaired smooth pursuit	0	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism			67
HP:0007772	HP:0007772	Impaired smooth pursuit	0	PRNP CL E G H	5621	9449	OMIM:137440	Gerstmann-Straussler disease	.		69
HP:0007772	HP:0007772	Impaired smooth pursuit	0	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy
HP:0007772	HP:0007772	Impaired smooth pursuit	0	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0007772	HP:0007772	Impaired smooth pursuit	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type	.		309
HP:0007772	HP:0007772	Impaired smooth pursuit	0	SPTBN2 CL E G H	6712	11276	OMIM:600224	Spinocerebellar ataxia 5	.		126
HP:0007772	HP:0007772	Impaired smooth pursuit	0	STT3A CL E G H	3703	6172	ORPHA:370921	STT3A-CDG	HP:0040282 - Frequent		21
HP:0007772	HP:0007772	Impaired smooth pursuit	0	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4			237
HP:0007772	HP:0007772	Impaired smooth pursuit	0	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040283 - Occasional		1129
HP:0007772	HP:0007772	Impaired smooth pursuit	0	SYT14 CL E G H	255928	23143	OMIM:614229	Spinocerebellar ataxia, autosomal recessive 11	.		4
HP:0007772	HP:0007772	Impaired smooth pursuit	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0007772	HP:0007772	Impaired smooth pursuit	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16
HP:0007772	HP:0007772	Impaired smooth pursuit	0	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0007772	HP:0007772	Impaired smooth pursuit	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.		45
HP:0007772	HP:0007772	Impaired smooth pursuit	0	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A	.		102
HP:0007772	HP:0007772	Impaired smooth pursuit	0	TULP1 CL E G H	7287	12423	OMIM:613843	Leber congenital amaurosis 15	.		66
HP:0007772	HP:0007772	Impaired smooth pursuit	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional		2
HP:0007772	HP:0007772	Impaired smooth pursuit	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0007772	HP:0001151	Impaired horizontal smooth pursuit	1	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.		19
HP:0007772	HP:0001151	Impaired horizontal smooth pursuit	1	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.		11
HP:0007772	HP:0001151	Impaired horizontal smooth pursuit	1	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.		14
HP:0007772	HP:0007179	Absent smooth pursuit	1	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040282 - Frequent		26
HP:0007772	HP:0001151	Impaired horizontal smooth pursuit	1	EEF2 CL E G H	1938	3214	OMIM:609306	Spinocerebellar ataxia 26	.		4
HP:0007772	HP:0001151	Impaired horizontal smooth pursuit	1	EEF2 CL E G H	1938	3214	ORPHA:101112	Spinocerebellar ataxia type 26	HP:0040281 - Very frequent		4
HP:0007772	HP:0007179	Absent smooth pursuit	1	FGF14 CL E G H	2259	3671	OMIM:193003	Nystagmus 4, congenital, autosomal dominant	.		47
HP:0007772	HP:0001151	Impaired horizontal smooth pursuit	1	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism	.		67
HP:0007772	HP:0007179	Absent smooth pursuit	1	RARS1 CL E G H	5917	9870	ORPHA:438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	HP:0040283 - Occasional
HP:0007772	HP:0001151	Impaired horizontal smooth pursuit	1	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome	.
HP:0007772	HP:0001151	Impaired horizontal smooth pursuit	1	STXBP1 CL E G H	6812	11444	OMIM:612164	Epileptic encephalopathy, early infantile, 4	.		237
HP:0007772	HP:0007179	Absent smooth pursuit	1	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040282 - Frequent		16
HP:0007772	HP:0007179	Absent smooth pursuit	1	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT			16

Genes (41) :ATXN1 ATXN10 ATXN2 ATXN3 ATXN8 ATXN8OS CACNA1A DPM2 EEF2 ELOVL4 FGF14 FTL GNB1 INPP5E ITPR1 KCND3 KCNN2 MAN2B1 MRE11 NOP56 PAFAH1B1 PDHB PEX10 PLA2G6 POLR3B PRNP RARS1 RFC1 SACS SPTBN2 STT3A STXBP1 SYNE1 SYT14 TBCD THG1L TMEM216 TSEN54 TULP1 WARS2 XRCC4

Diseases (46) :OMIM:164400 OMIM:603516 ORPHA:98761 OMIM:183090 OMIM:109150 OMIM:608768 ORPHA:98760 OMIM:183086 ORPHA:329178 OMIM:609306 ORPHA:101112 OMIM:133190 OMIM:193003 ORPHA:157846 ORPHA:488613 OMIM:616973 OMIM:213300 OMIM:606658 ORPHA:98772 OMIM:619724 OMIM:248500 OMIM:604391 OMIM:614153 ORPHA:95232 ORPHA:255138 ORPHA:247815 OMIM:614871 OMIM:610217 OMIM:614381 OMIM:137440 ORPHA:438114 OMIM:614575 OMIM:270550 OMIM:600224 ORPHA:370921 OMIM:612164 ORPHA:88644 OMIM:614229 ORPHA:496641 OMIM:617193 OMIM:618800 OMIM:608091 OMIM:277470 OMIM:613843 ORPHA:572798 OMIM:616541

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

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