MCID: SPR038
MIFTS: 28

Supranuclear Ocular Palsy

Categories: Rare diseases

Aliases & Classifications for Supranuclear Ocular Palsy

MalaCards integrated aliases for Supranuclear Ocular Palsy:

Name: Supranuclear Ocular Palsy 53
Gaze Palsy 53 72
Palsy of Conjugate Gaze 72
Conjugate Gaze Palsy 53

Classifications:



External Ids:

UMLS 72 C0702143 C1112261

Summaries for Supranuclear Ocular Palsy

MalaCards based summary : Supranuclear Ocular Palsy, also known as gaze palsy, is related to conjugate gaze palsy and horizontal gaze palsy with progressive scoliosis, and has symptoms including spasm of conjugate gaze and anomalies of divergence. The drugs Rivastigmine and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and pineal.

Related Diseases for Supranuclear Ocular Palsy

Diseases related to Supranuclear Ocular Palsy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 198)
# Related Disease Score Top Affiliating Genes
1 conjugate gaze palsy 13.0
2 horizontal gaze palsy with progressive scoliosis 12.9
3 neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset 12.9
4 arthrogryposis, perthes disease, and upward gaze palsy 12.9
5 gaze palsy, familial horizontal, with progressive scoliosis 1 12.8
6 gaze palsy, familial horizontal, with progressive scoliosis 2, with impaired intellectual development 12.8
7 supranuclear palsy, progressive, 1 11.9
8 kufor-rakeb syndrome 11.9
9 dementia, lewy body 11.7
10 spastic ataxia 1, autosomal dominant 11.6
11 gaucher disease, type iii 11.6
12 niemann-pick disease, type c1 11.6
13 niemann-pick disease 11.6
14 agenesis of the corpus callosum with peripheral neuropathy 11.4
15 athabaskan brainstem dysgenesis syndrome 11.4
16 rhyns syndrome 11.4
17 medulloblastoma 11.3
18 papilloma of choroid plexus 11.3
19 spinocerebellar ataxia 15 11.3
20 niemann-pick disease, type c2 11.3
21 spastic paraplegia 35, autosomal recessive 11.3
22 polr3-related leukodystrophy 11.3
23 nbia/dyt/park-pla2g6 11.3
24 frontotemporal dementia with parkinsonism-17 11.3
25 ataxia and polyneuropathy, adult-onset 10.5
26 pathologic nystagmus 10.5
27 kearns-sayre syndrome 10.5
28 ptosis 10.4
29 internuclear ophthalmoplegia 10.4
30 apraxia 10.3
31 dysphagia 10.3
32 monocular esotropia 10.3
33 esotropia 10.3
34 aceruloplasminemia 10.3
35 dementia 10.3
36 corticobasal degeneration 10.3
37 tremor 10.3
38 frontotemporal dementia 10.2
39 gaucher's disease 10.2
40 motor neuron disease 10.2
41 encephalitis 10.2
42 myoclonus 10.2
43 multiple sclerosis 10.2
44 aphasia 10.2
45 alternating exotropia 10.2
46 exotropia 10.2
47 lateral sclerosis 10.2
48 movement disease 10.2
49 dystonia 10.2
50 encephalopathy 10.2

Graphical network of the top 20 diseases related to Supranuclear Ocular Palsy:



Diseases related to Supranuclear Ocular Palsy

Symptoms & Phenotypes for Supranuclear Ocular Palsy

UMLS symptoms related to Supranuclear Ocular Palsy:


spasm of conjugate gaze, anomalies of divergence

Drugs & Therapeutics for Supranuclear Ocular Palsy

Drugs for Supranuclear Ocular Palsy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 35)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rivastigmine Approved, Investigational Phase 3 123441-03-2 77991
2 Neurotransmitter Agents Phase 3
3 Neuroprotective Agents Phase 3
4 Cholinergic Agents Phase 3
5 Protective Agents Phase 3
6 Cholinesterase Inhibitors Phase 3
7
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
8 N-monoacetylcystine Phase 1, Phase 2
9 Antidotes Phase 1, Phase 2
10 Respiratory System Agents Phase 1, Phase 2
11 Free Radical Scavengers Phase 1, Phase 2
12 Antioxidants Phase 1, Phase 2
13 Anti-Infective Agents Phase 1, Phase 2
14 cysteine Phase 1, Phase 2
15 Expectorants Phase 1, Phase 2
16 Antiviral Agents Phase 1, Phase 2
17
Nicotinamide Approved, Investigational 98-92-0 936
18
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
19
Creatine Approved, Investigational, Nutraceutical 57-00-1 586
20
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
21 Micronutrients
22 Trace Elements
23 pyruvate
24 Vitamins
25 Folate
26 Vitamin B9
27 Vitamin B Complex
28 Nutrients
29 Vitamin B3
30 Nicotinic Acids
31 Hypolipidemic Agents
32 Lipid Regulating Agents
33 Vasodilator Agents
34 Antimetabolites
35
Bilirubin 635-65-4, 69853-43-6 5280352 21252250

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 RIVA-PSP: Efficacy of Rivastigmine on Motor, Cognitive and Behavioural Impairment in Progressive Supranuclear Palsy: A Randomised Double Blind Placebo-controlled Clinical Trial Recruiting NCT02839642 Phase 3 Rivastigmine;Placebo
2 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
3 Longitudinal Study of Cognition With Niemann-Pick Disease, Type C Completed NCT01899950
4 The Role of the Neuropsychological Evaluation for Early Diagnosis of Progressive Supranuclear Palsy Completed NCT03478124
5 Clinical and Biochemical Effects of Macrophage-Targeted Glucocerebrosidase on Neurological Involvement in Neuronopathic Gaucher's Disease Completed NCT00001289
6 Energy Metabolism in Neurodegenerative Diseases: A Randomized, Double Blind, Placebo-Controlled Clinical Pilot Trial of Pyruvate, Creatine, and Niacinamide in Progressive Supranuclear Palsy. Completed NCT00605930
7 A Randomized Trial of High and Low Pressure Level Settings on a Programmable Ventriculoperitoneal Shunt Valve for Idiopathic Normal Pressure Hydrocephalus. Results of the Dutch Evaluation Program Strata Shunt (DEPSS) Trial Completed NCT01570257
8 Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies Recruiting NCT03059420
9 Induced Pluripotent Stem Cells for the Development of Novel Drug Therapies for Hepatic and Neurological Niemann Pick Disease Recruiting NCT03883750
10 Functional Assessment of the Melanopsin-Containing Retinal Ganglion Cells in Progressive Supranuclear Palsy Using Chromatic Pupillometry Recruiting NCT03330353
11 Biomarker for Niemann Pick Type C Disease (NPC1/NPC2) an International, Multicenter, Epidemiological Study Recruiting NCT01306604
12 Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C Recruiting NCT00344331
13 TReatment Strategy In Acute Ischemic larGE Vessel STROKE: Prioritize Thrombolysis or Endovascular Treatment Recruiting NCT03542188
14 Development of a Neonatal Jaundice Treatment Accelerator by Redirection of Unused Light During Phototherapy Not yet recruiting NCT04021927

Search NIH Clinical Center for Supranuclear Ocular Palsy

Genetic Tests for Supranuclear Ocular Palsy

Anatomical Context for Supranuclear Ocular Palsy

MalaCards organs/tissues related to Supranuclear Ocular Palsy:

41
Eye, Brain, Pineal, Skin, Testes, Thalamus, Pons

Publications for Supranuclear Ocular Palsy

Articles related to Supranuclear Ocular Palsy:

(show top 50) (show all 903)
# Title Authors PMID Year
1
Neuropathologic basis of frontotemporal dementia in progressive supranuclear palsy. 38
31433871 2019
2
Vertical Gaze Palsy in Kernicterus. 38
31064023 2019
3
Exclusive endoscopic occipital transtentorial approach for pineal region tumors. 38
31421299 2019
4
Paraneoplastic phenomenon in mesothelioma. 38
31110054 2019
5
Atypical "nine" syndrome in bilateral pontine infarction: A case report. 38
31305438 2019
6
An Evaluation of the Progressive Supranuclear Palsy Speech/Language Variant. 38
31392246 2019
7
Utility of the Movement Disorders Society Criteria for Progressive Supranuclear Palsy in Clinical Practice. 38
31392243 2019
8
Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review. 38
31266511 2019
9
Diffuse Brain Calcification, a Novel SLC20A2 Variant, Vertical Supranuclear Gaze Palsy, and Systemic Lupus Erythematosus. 38
31286012 2019
10
Laboratory diagnosis of the Niemann-Pick type C disease: an inherited neurodegenerative disorder of cholesterol metabolism. 38
31197681 2019
11
Fisher one-and-a-half syndrome due to a bulb protuberance cavernoma. 38
30455115 2019
12
Imaging counterpart of postural instability and vertical ocular dysfunction in patients with PSP: A multimodal MRI study. 38
30803901 2019
13
Niemann-Pick type C: contemporary diagnosis and treatment of a classical disorder. 38
31243140 2019
14
Acute upward gaze palsy: Not always Parinaud syndrome. 38
31189350 2019
15
Endoscopic transorbital and endonasal approach for trigeminal schwannomas: a retrospective multicenter analysis (KOSEN-005). 38
31226689 2019
16
Near fatal intoxication by nicotine and propylene glycol injection: a case report of an e-liquid poisoning. 38
31077262 2019
17
Ocular manifestations in patients with cerebrovascular accidents in India: a cross-sectional observational study. 38
31129750 2019
18
Beyond dystonia and ataxia: Expanding the phenotype of SQSTM1 mutations. 38
30638816 2019
19
Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: First families detected in Spain. 38
31103315 2019
20
A case of Niemann-Pick disease type C with neonatal liver failure initially diagnosed as neonatal hemochromatosis. 38
30737051 2019
21
Horizontal gaze palsy and progressive scoliosis with two novel ROBO3 gene mutations in two Jordanian families. 38
30985235 2019
22
Gaze Palsy: An Important Diagnostic Clue. 38
31029453 2019
23
Non secretory Paraganglioma in cavernous sinus masquerading as meningioma. 38
30831293 2019
24
Different Niemann-Pick C1 Genotypes Generate Protein Phenotypes that Vary in their Intracellular Processing, Trafficking and Localization. 38
30923329 2019
25
Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia. 38
30456712 2019
26
Psychiatric and Cognitive Symptoms Associated with Niemann-Pick Type C Disease: Neurobiology and Management. 38
30632019 2019
27
Teaching Video NeuroImages: Horizontal gaze palsy with progressive scoliosis. 38
30777921 2019
28
Horizontal gaze palsy with progressive scoliosis: is scoliosis linked to ROBO3 mutations? 38
30218396 2019
29
Medial pontomedullary junctional infarction presenting vertigo, ipsilateral facial paresis, contralateral thermal hypoalgesia and dysphagia without lateral gaze palsy, curtain sign and hoarseness: a case presentation of a novel brain stem stroke syndrome with sensory disturbance-based dysphagia and review of the literature. 38
30697437 2019
30
Acute Onset of Hypersomnolence and Aphasia Secondary to an Artery of Percheron Infarct and a Proposed Emergency Room Evaluation. 38
31093385 2019
31
Bilateral Internuclear Ophthalmoplegia in a Young Woman with Vertebral Artery Dissection. 38
31293990 2019
32
Screening for Niemann-Pick Type C Disease in a Memory Clinic Cohort. 38
30187371 2019
33
How to spot ocular abnormalities in progressive supranuclear palsy? A practical review. 38
31333840 2019
34
Atrophy in midbrain & cerebral/cerebellar pedunculi is characteristic for progressive supranuclear palsy - A double-validation whole-brain meta-analysis. 38
30831462 2019
35
Bilateral horizontal gaze palsy in benign multiple sclerosis. 38
30560418 2018
36
Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect. 38
30285904 2018
37
"Eight and a half" and "nine syndrome" rare presentation of pontine lesions; case reports and review of literature. 38
31210904 2018
38
Nine Syndrome: Case Report and Review of Clinical Signs in Internuclear Ophthalmoplegia. 38
30532368 2018
39
Vertical Gaze Palsy Caused by Selective Unilateral Rostral Midbrain Infarction. 38
30258479 2018
40
Treatment response in osmotic demyelination syndrome presenting as severe parkinsonism, ptosis and gaze palsy. 38
30344146 2018
41
Eight Syndrome: Horizontal Gaze Palsy Plus Ipsilateral Seventh Nerve Palsy. 38
29608536 2018
42
Rare valiant vertical one-and-a-half syndrome without ipsilateral upward gaze palsy in a patient with thalamomesencephalic stroke. 38
30333923 2018
43
Conjugate Eye Deviation Caused by Upper Medial Medullary Infarction: A Case Report. 38
29861128 2018
44
A new MR imaging index for differentiation of progressive supranuclear palsy-parkinsonism from Parkinson's disease. 38
30068492 2018
45
Corticobasal degeneration with TDP-43 pathology presenting with progressive supranuclear palsy syndrome: a distinct clinicopathologic subtype. 38
29926172 2018
46
Clinical and Imaging Features of Multiple System Atrophy: Challenges for an Early and Clinically Definitive Diagnosis. 38
30086614 2018
47
Phenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report. 38
30119649 2018
48
Progressive supranuclear palsy responding to intravenous thiamine: superimposed Wernicke's encephalopathy? 38
30131406 2018
49
The diagnosis of progressive supranuclear palsy: current opinions and challenges. 38
29902389 2018
50
Teaching Video NeuroImages: Upward gaze palsy is a sign of spinocerebellar ataxia type 3. 38
30061350 2018

Variations for Supranuclear Ocular Palsy

Expression for Supranuclear Ocular Palsy

Search GEO for disease gene expression data for Supranuclear Ocular Palsy.

Pathways for Supranuclear Ocular Palsy

GO Terms for Supranuclear Ocular Palsy

Sources for Supranuclear Ocular Palsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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