Human Phenotype Ontology

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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
..Saccadic smooth pursuit (HP:0001152)

Term ID:

1152

Name:

Saccadic smooth pursuit

Synonym:

Saccadic pursuit movements; Saccadic slow pursuit

Definition:

An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements.

Comments:

Reference:

HP:0001152

Genes and Diseases:

Child Nodes:

........

Microsaccadic pursuit (HP:0007792)

........

Intermittent microsaccadic pursuits (HP:0007944)

Sister Nodes:

Impaired pursuit initiation and maintenance (HP:0007668)

Impaired smooth pursuit (HP:0007772)

Jerky ocular pursuit movements (HP:0008003)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	ALS2 CL E G H	57679	443	OMIM:606353	Primary lateral sclerosis, juvenile	.	114
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	ANO10 CL E G H	55129	25519	ORPHA:284289	Adult-onset autosomal recessive cerebellar ataxia	HP:0040282 - Frequent	64
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	ATN1 CL E G H	1822	3033	ORPHA:101	Dentatorubral pallidoluysian atrophy	HP:0040282 - Frequent	16
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	ATP2B3 CL E G H	492	816	ORPHA:314978	X-linked non progressive cerebellar ataxia	HP:0040282 - Frequent	19
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2	.	449
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	CACNA1G CL E G H	8913	1394	OMIM:616795	Spinocerebellar ataxia 42		32
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040282 - Frequent	32
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	FMR1 CL E G H	2332	3775	OMIM:300623	Fragile X tremor/ataxia syndrome		30
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia	HP:0040282 - Frequent	107
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19		35
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040282 - Frequent	11
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	PMPCA CL E G H	23203	18667	OMIM:213200	Spinocerebellar ataxia, autosomal recessive 2	.	7
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	PRDX3 CL E G H	10935	9354	OMIM:619862
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	PRKCG CL E G H	5582	9402	ORPHA:98763	Spinocerebellar ataxia type 14	HP:0040283 - Occasional	83
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	RNF170 CL E G H	81790	25358	OMIM:619686	SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE; SPG85		3
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	RUBCN CL E G H	9711	28991	ORPHA:404499	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency	HP:0040282 - Frequent	9
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	RUBCN CL E G H	9711	28991	OMIM:615705	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15; SCAR15		9
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	HP:0040282 - Frequent	5
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040282 - Frequent	162
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1	.	162
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040282 - Frequent	287
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040284 - Very rare	14
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	TMEM106B CL E G H	54664	22407	OMIM:617964	Leukodystrophy, hypomyelinating, 16
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21		9
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	TMEM240 CL E G H	339453	25186	ORPHA:98773	Spinocerebellar ataxia type 21		9
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	TPP1 CL E G H	1200	2073	ORPHA:284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	HP:0040282 - Frequent	203
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	TPP1 CL E G H	1200	2073	OMIM:609270	Spinocerebellar ataxia, autosomal recessive 7	.	203
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	XRCC1 CL E G H	7515	12828	OMIM:617633	Spinocerebellar ataxia, autosomal recessive 26		4
HP:0001152	HP:0001152	Saccadic smooth pursuit	0	ZFYVE26 CL E G H	23503	20761	ORPHA:100996	Autosomal recessive spastic paraplegia type 15	HP:0040283 - Occasional	189
HP:0001152	HP:0007944	Intermittent microsaccadic pursuits	1	KCND3 CL E G H	3752	6239	OMIM:607346	Spinocerebellar ataxia 19	.	35
HP:0001152	HP:0007792	Microsaccadic pursuit	1	TMEM240 CL E G H	339453	25186	OMIM:607454	Spinocerebellar ataxia 21	.	9
HP:0001152	HP:0007944	Intermittent microsaccadic pursuits	1	TMEM240 CL E G H	339453	25186	ORPHA:98773	Spinocerebellar ataxia type 21	HP:0040281 - Very frequent	9

Genes (24) :ALS2 ANO10 ATN1 ATP2B3 CACNA1A CACNA1G FMR1 GJB1 KCND3 PIK3R5 PMPCA PRDX3 PRKCG RNF170 RUBCN SCYL1 SETX SPG11 STUB1 TMEM106B TMEM240 TPP1 XRCC1 ZFYVE26

Diseases (28) :OMIM:606353 ORPHA:284289 ORPHA:101 ORPHA:314978 OMIM:108500 OMIM:616795 ORPHA:458803 OMIM:300623 ORPHA:1175 OMIM:607346 ORPHA:64753 OMIM:213200 OMIM:619862 ORPHA:98763 OMIM:619686 ORPHA:404499 OMIM:615705 ORPHA:466794 OMIM:606002 ORPHA:2822 ORPHA:412057 OMIM:617964 OMIM:607454 ORPHA:98773 ORPHA:284324 OMIM:609270 OMIM:617633 ORPHA:100996

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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