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:
Abnormal conjugate eye movement (HP:0000549)

Parent Node:
Supranuclear gaze palsy (HP:0000605)

..Starting node
..Vertical supranuclear gaze palsy (HP:0000511)

Term ID:

511

Name:

Vertical supranuclear gaze palsy

Synonym:

Vertical gaze palsy

Definition:

A supranuclear gaze palsy is an inability to look in a vertical direction as a result of cerebral impairment. There is a loss of the voluntary aspect of eye movements, but, as the brainstem is still intact, all the reflex conjugate eye movements are normal.

Comments:

Reference:

HP:0000511

Genes and Diseases:

Child Nodes:

........

Downgaze palsy (HP:0025330)

........

Upgaze palsy (HP:0025331)

Sister Nodes:

Horizontal supranuclear gaze palsy (HP:0007817)

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:0000511	HP:0000511	Vertical supranuclear gaze palsy	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia		15
HP:0000511	HP:0000511	Vertical supranuclear gaze palsy	0	ACOX2 CL E G H	8309	120	OMIM:617308	Bile acid synthesis defect, congenital, 6	.	2
HP:0000511	HP:0000511	Vertical supranuclear gaze palsy	0	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy		1
HP:0000511	HP:0000511	Vertical supranuclear gaze palsy	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040283 - Occasional	74
HP:0000511	HP:0000511	Vertical supranuclear gaze palsy	0	ATP13A2 CL E G H	23400	30213	ORPHA:314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis		100
HP:0000511	HP:0000511	Vertical supranuclear gaze palsy	0	ATP13A2 CL E G H	23400	30213	ORPHA:306674	Kufor-Rakeb syndrome	HP:0040283 - Occasional	100
HP:0000511	HP:0000511	Vertical supranuclear gaze palsy	0	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1		19
HP:0000511	HP:0000511	Vertical supranuclear gaze palsy	0	CCDC88C CL E G H	440193	19967	ORPHA:423275	Spinocerebellar ataxia type 40	HP:0040282 - Frequent	54
HP:0000511	HP:0000511	Vertical supranuclear gaze palsy	0	DCTN1 CL E G H	1639	2711	OMIM:168605	Perry syndrome	.	86
HP:0000511	HP:0000511	Vertical supranuclear gaze palsy	0	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency		82
HP:0000511	HP:0000511	Vertical supranuclear gaze palsy	0	EIF2AK2 CL E G H	5610	9437	OMIM:619687	DYSTONIA 33; DYT33
HP:0000511	HP:0000511	Vertical supranuclear gaze palsy	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy		33
HP:0000511	HP:0000511	Vertical supranuclear gaze palsy	0	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13		17
HP:0000511	HP:0000511	Vertical supranuclear gaze palsy	0	MAPT CL E G H	4137	6893	ORPHA:240071	Classic progressive supranuclear palsy syndrome	HP:0040282 - Frequent	140
HP:0000511	HP:0000511	Vertical supranuclear gaze palsy	0	MAPT CL E G H	4137	6893	ORPHA:240103	Progressive supranuclear palsy-corticobasal syndrome	HP:0040282 - Frequent	140
HP:0000511	HP:0000511	Vertical supranuclear gaze palsy	0	MAPT CL E G H	4137	6893	ORPHA:240085	Progressive supranuclear palsy-parkinsonism syndrome	HP:0040281 - Very frequent	140
HP:0000511	HP:0000511	Vertical supranuclear gaze palsy	0	MAPT CL E G H	4137	6893	ORPHA:240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	HP:0040283 - Occasional	140
HP:0000511	HP:0000511	Vertical supranuclear gaze palsy	0	MTFMT CL E G H	123263	29666	OMIM:618248	Mitochondrial complex I deficiency, nuclear type 27		29
HP:0000511	HP:0000511	Vertical supranuclear gaze palsy	0	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1		9
HP:0000511	HP:0000511	Vertical supranuclear gaze palsy	0	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy		9
HP:0000511	HP:0000511	Vertical supranuclear gaze palsy	0	NOP56 CL E G H	10528	15911	OMIM:614153	Spinocerebellar ataxia 36		9
HP:0000511	HP:0000511	Vertical supranuclear gaze palsy	0	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1	.	258
HP:0000511	HP:0000511	Vertical supranuclear gaze palsy	0	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.	33
HP:0000511	HP:0000511	Vertical supranuclear gaze palsy	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome		12
HP:0000511	HP:0000511	Vertical supranuclear gaze palsy	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy		133
HP:0000511	HP:0000511	Vertical supranuclear gaze palsy	0	PLA2G6 CL E G H	8398	9039	OMIM:612953	Parkinson disease 14, autosomal recessive		133
HP:0000511	HP:0000511	Vertical supranuclear gaze palsy	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0000511	HP:0000511	Vertical supranuclear gaze palsy	0	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome		464
HP:0000511	HP:0000511	Vertical supranuclear gaze palsy	0	POLR3A CL E G H	11128	30074	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		138
HP:0000511	HP:0000511	Vertical supranuclear gaze palsy	0	POLR3A CL E G H	11128	30074	ORPHA:447896	Tremor-ataxia-central hypomyelination syndrome	HP:0040282 - Frequent	138
HP:0000511	HP:0000511	Vertical supranuclear gaze palsy	0	POLR3B CL E G H	55703	30348	OMIM:607694	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism		67
HP:0000511	HP:0000511	Vertical supranuclear gaze palsy	0	SPG7 CL E G H	6687	11237	OMIM:607259	Spastic paraplegia 7, autosomal recessive		171
HP:0000511	HP:0000511	Vertical supranuclear gaze palsy	0	SQSTM1 CL E G H	8878	11280	OMIM:617145	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	.	62
HP:0000511	HP:0000511	Vertical supranuclear gaze palsy	0	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome		113
HP:0000511	HP:0000511	Vertical supranuclear gaze palsy	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0000511	HP:0025331	Upgaze palsy	1	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040283 - Occasional	15
HP:0000511	HP:0025331	Upgaze palsy	1	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy		1
HP:0000511	HP:0025331	Upgaze palsy	1	ATP13A2 CL E G H	23400	30213	ORPHA:314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis	HP:0040282 - Frequent	100
HP:0000511	HP:0025331	Upgaze palsy	1	ATXN1 CL E G H	6310	10548	ORPHA:98755	Spinocerebellar ataxia type 1	HP:0040282 - Frequent	19
HP:0000511	HP:0025331	Upgaze palsy	1	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040282 - Frequent	82
HP:0000511	HP:0025331	Upgaze palsy	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040284 - Very rare	33
HP:0000511	HP:0025331	Upgaze palsy	1	KCNC3 CL E G H	3748	6235	ORPHA:98768	Spinocerebellar ataxia type 13	HP:0040284 - Very rare	17
HP:0000511	HP:0025331	Upgaze palsy	1	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy		9
HP:0000511	HP:0025330	Downgaze palsy	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional	12
HP:0000511	HP:0025331	Upgaze palsy	1	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040284 - Very rare	133
HP:0000511	HP:0025331	Upgaze palsy	1	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent	464
HP:0000511	HP:0025331	Upgaze palsy	1	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040282 - Frequent	113
HP:0000511	HP:0025331	Upgaze palsy	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional	130

Genes (29) :AASS ACOX2 AGTPBP1 ALDH4A1 ATP13A2 ATXN1 CCDC88C DCTN1 DLAT EIF2AK2 FTL KCNC3 MAPT MTFMT NAXE NEK9 NOP56 NPC1 NPC2 PIGT PLA2G6 PLP1 POLG POLR3A POLR3B SPG7 SQSTM1 TWNK VPS13A

Diseases (33) :ORPHA:2203 OMIM:617308 OMIM:618276 ORPHA:79101 ORPHA:314632 ORPHA:306674 ORPHA:98755 ORPHA:423275 OMIM:168605 ORPHA:79244 OMIM:619687 ORPHA:157846 ORPHA:98768 ORPHA:240071 ORPHA:240103 ORPHA:240085 ORPHA:240112 OMIM:618248 OMIM:617186 OMIM:614262 OMIM:614153 OMIM:257220 OMIM:607625 ORPHA:369837 ORPHA:35069 OMIM:612953 OMIM:312080 ORPHA:70595 OMIM:607694 ORPHA:447896 OMIM:607259 OMIM:617145 ORPHA:2388

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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