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MCID: PTH003
MIFTS: 52

Pathologic Nystagmus

Categories: Neuronal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Pathologic Nystagmus

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MalaCards integrated aliases for Pathologic Nystagmus:

Name: Pathologic Nystagmus 12 15
Nystagmus 71

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:9650
ICD9CM 34 379.50
MeSH 43 D009759
NCIt 49 C3282
SNOMED-CT 67 563001
ICD10 32 H55.0
UMLS 71 C0028738
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Summaries for Pathologic Nystagmus

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MalaCards based summary : Pathologic Nystagmus, also known as nystagmus, is related to congenital nystagmus and choroid disease, and has symptoms including ophthalmoplegia, neurologic symptoms and deficiencies of smooth pursuit movements. An important gene associated with Pathologic Nystagmus is PAX6 (Paired Box 6), and among its related pathways/superpathways are Phototransduction and Visual Cycle in Retinal Rods. The drugs Gabapentin and Brinzolamide have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and brain, and related phenotypes are cellular and cardiovascular system

Wikipedia : 74 Nystagmus is a condition of involuntary (or voluntary, in some cases) eye movement, acquired in infancy... more...

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Related Diseases for Pathologic Nystagmus

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Diseases related to Pathologic Nystagmus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 98)
# Related Disease Score Top Affiliating Genes
1 congenital nystagmus 33.3 TYR PAX6 FRMD7 CNGB3 CASK
2 choroid disease 10.8 RPE65 RHO CNGB3 CEP290
3 red-green color blindness 10.8 RPE65 RHO CNGB3
4 leber congenital amaurosis 2 10.8 RPE65 RHO CNGB3 CEP290
5 orofaciodigital syndrome 10.8 TMEM67 MKS1 CEP290
6 coloboma of iris 10.8 TMEM67 TFAP2A PAX6
7 joubert syndrome 6 10.8 TMEM67 MKS1 CEP290
8 optic nerve hypoplasia, bilateral 10.8 SIX6 RPE65 RHO PAX6
9 leber congenital amaurosis 1 10.8 RPE65 RHO NMNAT1 CNGB3 CEP290
10 eye degenerative disease 10.8 RPE65 RHO PAX6 CNGB3 CEP290
11 encephalocele 10.8 TMEM67 MKS1 CEP290
12 nanophthalmos 10.8 SIX6 RPE65 RHO PAX6
13 leber congenital amaurosis 9 10.8 RPE65 NMNAT1 CEP290
14 color blindness 10.8 RPE65 RHO FRMD7 CNGB3
15 cone dystrophy 10.8 RPE65 RHO CNGB3 CEP290
16 joubert syndrome 9 10.8 TMEM67 MKS1 CEP290
17 joubert syndrome 7 10.8 TMEM67 MKS1 CEP290
18 usher syndrome 10.8 RPE65 RHO HARS1 CEP290
19 joubert syndrome 4 10.8 TMEM67 MKS1 KIF7 CEP290
20 yemenite deaf-blind hypopigmentation syndrome 10.8 RPE65 RHO CEP290
21 usher syndrome type 2 10.8 RPE65 RHO HARS1 CEP290
22 nephronophthisis 7 10.8 TMEM67 MKS1 CEP290
23 joubert syndrome 3 10.8 TMEM67 MKS1 KIF7 CEP290
24 orofaciodigital syndrome vi 10.8 TMEM67 MKS1 KIF7 CEP290
25 achromatopsia 4 10.8 RPE65 RHO CNGB3
26 senior-loken syndrome 1 10.8 TMEM67 RPE65 RHO MKS1 CEP290
27 retinal disease 10.8 RPE65 RHO PAX6 CNGB3 CEP290
28 joubert syndrome 2 10.8 TMEM67 MKS1 CEP290
29 coloboma, ocular, autosomal dominant 10.8 TMEM67 TFAP2A PAX6
30 coach syndrome 10.8 TMEM67 MKS1 KIF7 CEP290
31 leber congenital amaurosis 4 10.8 RPE65 CNGB3 CEP290
32 joubert syndrome 13 10.8 TMEM67 KIF7 CEP290
33 nephronophthisis 16 10.8 TMEM67 MKS1 CEP290
34 meckel syndrome, type 4 10.8 TMEM67 MKS1 CEP290
35 joubert syndrome 5 10.8 TMEM67 MKS1 CEP290
36 nephronophthisis 14 10.8 TMEM67 MKS1 CEP290
37 meckel syndrome, type 2 10.7 TMEM67 MKS1 CEP290
38 vitreous disease 10.7 RPE65 RHO PAX6
39 achromatopsia 10.7 RPE65 RHO PAX6 NMNAT1 FRMD7 CNGB3
40 meckel syndrome, type 5 10.7 TMEM67 MKS1 CEP290
41 physical disorder 10.7 TMEM67 PAX6 MKS1 CEP290
42 apraxia 10.7 TMEM67 SETX KIF7 CEP290
43 nephronophthisis 10.7 TMEM67 MKS1 KIF7 CEP290
44 scotoma 10.7 RPE65 RHO CNGB3
45 hereditary retinal dystrophy 10.7 RPE65 RHO CEP290
46 nephronophthisis 9 10.7 TMEM67 MKS1 CEP290
47 meckel syndrome, type 6 10.7 TMEM67 MKS1 CEP290
48 meckel syndrome, type 3 10.7 TMEM67 MKS1 CEP290
49 stargardt disease 10.7 RPE65 RHO CNGB3 CEP290
50 aceruloplasminemia 10.7 SETX RPE65 KIF7 HARS1

Comorbidity relations with Pathologic Nystagmus via Phenotypic Disease Network (PDN):


Hypertension, Essential Labyrinthitis

Graphical network of the top 20 diseases related to Pathologic Nystagmus:



Diseases related to Pathologic Nystagmus
Sources

Symptoms & Phenotypes for Pathologic Nystagmus

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UMLS symptoms related to Pathologic Nystagmus:


ophthalmoplegia, neurologic symptoms, deficiencies of smooth pursuit movements

MGI Mouse Phenotypes related to Pathologic Nystagmus:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.4 CASK CEP290 CNGB3 GALC GNB1 KIF7
2 cardiovascular system MP:0005385 10.31 CEP290 GALC GNB1 KIF7 MKS1 NMNAT1
3 growth/size/body region MP:0005378 10.31 CASK CEP290 GALC GNB1 KIF7 MKS1
4 nervous system MP:0003631 10.3 CASK CEP290 CNGB3 GALC GNB1 KIF7
5 behavior/neurological MP:0005386 10.29 CASK CEP290 GALC GNB1 MYO5A NMNAT1
6 craniofacial MP:0005382 10.25 CASK CEP290 GALC KIF7 MKS1 MYO5A
7 mortality/aging MP:0010768 10.22 CASK CEP290 GALC GNB1 KIF7 MKS1
8 immune system MP:0005387 10.2 CEP290 GALC MKS1 MYO5A PAX6 RHO
9 limbs/digits/tail MP:0005371 10.09 CASK GALC KIF7 MKS1 MYO5A SGSH
10 hearing/vestibular/ear MP:0005377 9.95 HARS1 MKS1 MYO5A PAX6 TFAP2A TYR
11 pigmentation MP:0001186 9.92 CEP290 MYO5A NMNAT1 PAX6 RHO RPE65
12 renal/urinary system MP:0005367 9.8 CEP290 GALC MKS1 PAX6 SGSH TMEM67
13 skeleton MP:0005390 9.77 CASK CEP290 FRMD7 GALC GNB1 KIF7
14 respiratory system MP:0005388 9.7 CASK CEP290 GNB1 KIF7 MKS1 PAX6
15 vision/eye MP:0005391 9.5 CASK CEP290 CNGB3 GALC KIF7 MKS1
Sources

Drugs & Therapeutics for Pathologic Nystagmus

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Drugs for Pathologic Nystagmus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 126)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
2
Brinzolamide Approved Phase 4 138890-62-7 68844
3
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
4
Sodium citrate Approved, Investigational Phase 4 68-04-2
5
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
6
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
7
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
8
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
9
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
10
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
11
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
12
Codeine Approved, Illicit Phase 4 76-57-3 5284371
13
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
14
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
15
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
16
Aspartic acid Approved, Nutraceutical Phase 4 56-84-8 5960
17
Butyric Acid Experimental, Investigational Phase 4 107-92-6 264
18 Anticonvulsants Phase 4
19 Ophthalmic Solutions Phase 4
20 Carbonic Anhydrase Inhibitors Phase 4
21 Anti-Anxiety Agents Phase 4
22 Psychotropic Drugs Phase 4
23 Gastrointestinal Agents Phase 4
24 Hypnotics and Sedatives Phase 4
25 Antiemetics Phase 4
26 GABA Modulators Phase 4
27 Citrate Phase 4
28 Narcotics Phase 4
29 Analgesics, Opioid Phase 4
30 Analgesics, Non-Narcotic Phase 4
31 Hormones Phase 4
32 Antineoplastic Agents, Hormonal Phase 4
33 Antihypertensive Agents Phase 4
34 Hormone Antagonists Phase 4
35 glucocorticoids Phase 4
36 Anti-Inflammatory Agents Phase 4
37 N-Methylaspartate Phase 4
38 Pharmaceutical Solutions Phase 4
39 Anesthetics Phase 4
40 Anesthetics, Local Phase 4
41 Sodium Channel Blockers Phase 4
42 Anti-Arrhythmia Agents Phase 4
43 Diuretics, Potassium Sparing Phase 4
44 Anti-Bacterial Agents Phase 4
45 Gentamicins Phase 4
46 Anti-Infective Agents Phase 4
47
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
48
Pioglitazone Approved, Investigational Phase 3 111025-46-8 4829
49
Propofol Approved, Investigational, Vet_approved Phase 3 2078-54-8 4943
50
Ketamine Approved, Vet_approved Phase 3 6740-88-1 3821

Interventional clinical trials:

(show top 50) (show all 83)
# Name Status NCT ID Phase Drugs
1 Treatment of Pendular Nystagmus With Gabapentin and Memantine in Patients With Oculopalatal Tremor: a Controled Open-label Study Completed NCT02466191 Phase 4 Memantine;Gabapentin
2 Topical Brinzolamide Ophthalmic Suspension Versus Placebo in the Treatment of Infantile Nystagmus Syndrome Completed NCT01312402 Phase 4 topical brinzolamide 1% in 5mL ophthalmic medication;Placebo in 5 mL dispenser
3 Pain Control in Pediatric Posterior Spine Fusion Patients: The Effect of Gabapentin on Post-operative Opioid Use and Patient Satisfaction Completed NCT01977937 Phase 4 Gabapentin 250mg/5mL NDC:59762-5025-01;Simple Syrup
4 A Combination Study With Sub-Dissociative Ketamine and Fentanyl to Treat Moderate to Severe Pain in the Emergency Department Recruiting NCT03959852 Phase 4 Fentanyl;Ketamine
5 Analgesic Efficacy of Ropivacaine Alone or in Combination With Adjuvants on Post-operative Analgesia Following Video-Assisted Thoracoscopic Surgery (VATS) - A Randomized Controlled Trial. Recruiting NCT03809442 Phase 4 Ropivacaine + Ketamine;Ropivacaine + Tramadol;Ropivacaine + Midazolam;Ropivacaine + Dexmedetomidine;Ropivacaine + Dexamethasone;Ropivacaine
6 Systemic Absorption of Lidocaine After Hematoma Block for Reduction of Different Types of Pediatric Distal Radius Fractures Not yet recruiting NCT04359017 Phase 4 Lidocaine 1% Injectable Solution
7 Gentamicin Treatment Prior to Vestibular Schwannoma Surgery in Patients With no Measurable Remaining Vestibular Function Suspended NCT02415257 Phase 4 Gentamicin
8 Treatment of Geotropic Horizontal Canal Benign Paroxysmal Positional Vertigo; Randomized Controlled Trial of Barbeque Rotation and Gufoni Maneuver Completed NCT01366430 Phase 3
9 Randomized Multicenter Study of Treatment of Horizontal Canal Benign Paroxysmal Positional Vertigo Completed NCT00810641 Phase 3
10 The Effectiveness Comparison of Three Different Methods for the Treatment of Posterior Semicircular Canal Benign Paroxysmal Positional Vertigo: Prospective, Double Blinded, Randomized, Multicenter Clinical Trial Completed NCT02029508 Phase 3
11 Efficacy and Safety of Ketamine Added to Local Anesthetic in Modified Pectoral Block for Management of Postoperative Pain in Patients Undergoing Modified Radical Mastectomy Completed NCT02620371 Phase 3
12 Effect of Pioglitazone Administered to Patients With Friedreich's ATAXIA:Proof of Concept Completed NCT00811681 Phase 3 pioglitazone;Placebo
13 A Randomized Double-blind Trial to Evaluate Ketamine-propofol Combination vs. Propofol Alone for Procedural Sedation and Analgesia in the Emergency Department. Completed NCT01211158 Phase 3 Ketofol;Propofol alone
14 Subdissociative Dose Ketamine for Treatment of Acute Pain in Subjects With Chronic Pain: A Randomized Controlled Trial Active, not recruiting NCT02920528 Phase 3 Ketamine;Placebo
15 A 48-Week Prospective, Double-Blinded, Randomized, Cross-over Design in Multicenter Study of 250 Unit of Dysport Versus 50 Unit of Neuronox Injection For Cervical Dystonia in Thai Patients Enrolling by invitation NCT03805152 Phase 3 Neuronox(R);Dysport (R)
16 Initiating Ketamine in Acutely Suicidal Patients in the Emergency Department Enrolling by invitation NCT04260607 Phase 3 Ketamine Hydrochloride;Normal saline
17 Effect of Target Intraoperative Blood Pressure on the Incidence of Post-operative Cognitive Dysfunction in Patients Aged 75 and Older Undergoing General Anesthesia for Non-cardiac Surgery: an International Multicenter Randomized Controlled Trial Suspended NCT02428062 Phase 2, Phase 3 Phenylephrine;Intravenous fluids;Ephedrine;Epinephrine;Norepinephrine;Dopamine
18 Phase 2 Study of 4-Aminopyridine for the Treatment of Episodic Ataxia Type 2 Unknown status NCT01543750 Phase 2 4-Aminopyridine;Placebo
19 Efficacy and Safety of Neramexane Mesylate in Congenital Idiopathic Nystagmus and Acquired Nystagmus: a Randomized, Double-blind, Placebo-controlled, Single Center, Proof of Concept Study Using a Two-period Cross-over Design Completed NCT00661440 Phase 2 Neramexane mesylate
20 Horizontal Rectus Tenotomy in the Treatment of Congenital Nystagmus Completed NCT00001866 Phase 2
21 Treatment of Pendular Nystagmus With Gabapentin and Memantine in Patients With Multiple Sclerosis Completed NCT01744444 Phase 2 Memantine;Gabapentin
22 Eye Tracking as a Biomarker of Cannabis Effects Recruiting NCT04100590 Phase 2 Cannabis
23 A Single Dose Pharmaco-Diagnostic for Peripheral Nerve Continuity After Trauma Not yet recruiting NCT04026568 Phase 1, Phase 2 4-Aminopyridine;Placebo oral tablet
24 Long-term Open-label Extension Study to Assess the Safety, Tolerability, and Efficacy of Neramexane Mesylate in Congenital Idiopathic Nystagmus and Acquired Nystagmus Terminated NCT00799942 Phase 2 Neramexane mesylate
25 Pilot Clinical Trial With Memantine for Cognitive Deficits in Patients With Multiple Sclerosis Terminated NCT00638833 Phase 2 Memantine;Placebo
26 A Three Month, Open-label, Single-arm Trial Evaluating the Safety and Pharmacokinetics of Oral Lithium in Patients Diagnosed With Chronic Spinal Cord Injury Completed NCT00431171 Phase 1 Lithium carbonate
27 A Phase 1 Safety Study in Subjects With Leber Congenital Amaurosis (LCA) Using Adeno-Associated Viral Vector to Deliver the Gene for Human RPE65 Into the Retinal Pigment Epithelium (RPE) [AAV2-hRPE65v2-101] Active, not recruiting NCT00516477 Phase 1
28 Randomized Controlled Trials for Treatment of Benign Paroxysmal Positional Vertigo Unknown status NCT01822002
29 Study of the Effectiveness of Vestibular Stimulation as a Coadjuvant Treatment in the Depressive Phase of Bipolar Disorder Unknown status NCT02778256
30 Elucidating the Molecular and Biochemical Basis of the Human AhR-mutation Disease Unknown status NCT03566745
31 A Randomized, Controlled Trial of Cannabis in Healthy Volunteers Evaluating Simulated Driving, Field Performance Tests and Cannabinoid Levels Unknown status NCT02849587 cannabis
32 Accuracy of a Diagnostic Algorithm for the Differential Diagnosis of Vertigo in the Emergency Department: the STANDING. Completed NCT02782962
33 Investigation and Treatment of Ocular Motor Disorders: Cross-over Comparison of Gabapentin and Memantine as Treatment for Nystagmus Completed NCT00928954 gabapentin;memantine
34 Screening Study for the Evaluation and Diagnosis of Potential Research Subjects With Nystagmus or Strabismus Completed NCT00001861
35 Effects of Vestibular Rehabilitation in the Treatment of Patients With Acute Vestibular Loss. - A Randomized Controlled Trial Completed NCT00702832
36 Diagnostic Accuracy of the Vibration Induced Nystagmus Test in Room Light. Completed NCT02626052
37 Verticality Perception and Gaze Holding in Healthy Human Subjects and Patients With Acute and Chronic Cerebellar Disorders Completed NCT02185313
38 Evaluation of the Otolithic Organs Function in Patients Suffering From Benign Paroxysmal Positional Vertigo (BPPV) by Vestibular Evoked Myogenic Potentials (VEMP). Completed NCT01004913
39 Clinical Aspects of Patients With Benign Paroxysmal Positional Vertigo (BPPV) and Migraine Completed NCT02615314
40 Production of a Device to Obtain Continuous Ambulatory Vestibular Assessment (CAVA) - Healthy Volunteer Trial Completed NCT03661762
41 Vertigo Perception and Quality of Life in Patients After Surgical Treatment of Vestibular Schwannoma With Pretreatment Prehabituation by Chemical Vestibular Ablation Completed NCT02963896 gentamicin
42 Functional Link Between Hippocampal and Vestibular Systems: a Pilot Study in Epilepsy Surgery Principal Investigator: Elizabeth VITTE Completed NCT01285921
43 A Randomized Trial to Evaluate Resolution of Symptoms Using Vestibular Rehab Versus Conventional Therapy in Patients Presenting to the Emergency Department (ED) With Diagnosis of Benign Paroxysmal Positional Vertigo (BPPV) Completed NCT00641797 Meclizine;Lorazepam;Diphenhydramine;Ondansetron
44 Clinical and Genetic Characterization of Individuals With Achromatopsia Completed NCT01846052
45 A Long-term Postoperative Outcome After Bilateral Congenital Cataract Surgery in Eyes With Microphthalmos Completed NCT01818037
46 Early Postoperative Imaging of the Labyrinth by Cone Beam CT After Stapes Surgery for Otosclerosis With Correlation to Audiovestibular Outcome Completed NCT02901093
47 Quantification of Posterior Capsule Opacity With Software Analysis Comparing Intraocular Lenses Hydrophilic x Hydrophobic in Pediatric Cataracts Completed NCT02968290
48 Randomized Multicenter Study of Benign Paroxysmal Positional Vertigo Treatment in Biaxial Rotational Chair Completed NCT01905800
49 Value of Copeptin and the S-100b Protein Assay in Ruling Out the Diagnosis of Stroke-induced Dizziness Pattern in Emergency Departments Completed NCT03974464
50 Feasibility and Safety of a Telemedically Performed Three-Component Oculomotor Testing Battery (HINTS) in Healthy Adults Completed NCT02938221

Search NIH Clinical Center for Pathologic Nystagmus

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Genetic Tests for Pathologic Nystagmus

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Anatomical Context for Pathologic Nystagmus

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MalaCards organs/tissues related to Pathologic Nystagmus:

40
Eye, Testes, Brain, Cortex, Cerebellum, Retina, Bone
Sources

Publications for Pathologic Nystagmus

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Articles related to Pathologic Nystagmus:

(show top 50) (show all 13038)
# Title Authors PMID Year
1
It is not your eyes. 61
31009615 2020
2
Screening of a large PAX6 cohort identified many novel variants and emphasises the importance of the paired and homeobox domains. 61
32360764 2020
3
Molecular characterization of SLC24A5 variants and evaluation of Nitisinone treatment efficacy in a zebrafish model of OCA6. 61
32274888 2020
4
Case 279: Central-Variant Posterior Reversible Encephalopathy Syndrome. 61
32539624 2020
5
Consecutive strabismus after infantile nystagmus syndrome surgery and potential risk factors. 61
32307586 2020
6
Effect of Midazolam on Vestibular Signs in Two Geriatric Dogs with Vestibular Disease. 61
32412341 2020
7
Clinical implications of head-shaking nystagmus in central and peripheral vestibular disorders: is perverted head-shaking nystagmus specific for central vestibular pathology? 61
31999861 2020
8
Initial Degree of Spontaneous Nystagmus Affects the Length of Hospitalization of Patients With Vestibular Neuritis. 61
32332452 2020
9
Unusual Locations of Benign Paroxysmal Positional Vertigo: Rare Entity or Regular Occurrence? 61
32221110 2020
10
Altered visual population receptive fields in human albinism. 61
32334151 2020
11
Development of novel in silico prediction model for drug-induced ototoxicity by using naïve Bayes classifier approach. 61
32109528 2020
12
[A case of bilateral medial medullary and left tegmentum of pontine infarction in whom DSA-MR fusion imaging identified infarct-relevant arteries]. 61
32435047 2020
13
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement. 61
32470375 2020
14
A Variation in FGF14 Is Associated with Downbeat Nystagmus in a Genome-Wide Association Study. 61
32157568 2020
15
PIGW-related glycosylphosphatidylinositol deficiency: Description of a new patient and review of the literature. 61
32198969 2020
16
Medial-tonsillar telovelar approach for resection of a superior medullary velum cerebral cavernous malformation: anatomical and tractography study of the surgical approach and functional implications. 61
32524247 2020
17
A novel variant in DOCK6 gene associated with Adams-Oliver syndrome type 2. 61
32498638 2020
18
The evaluation of the use of isotretinoin on vestibular system by using vHIT. 61
32531621 2020
19
Vertical Optokinetic Stimulation Induces Diagonal Eye Movements in Patients with Idiopathic Infantile Nystagmus. 61
32503054 2020
20
Phenotypic expansion of Bosch-Boonstra-Schaaf optic atrophy syndrome and further evidence for genotype-phenotype correlations. 61
32275123 2020
21
Ophthalmic findings in neonates receiving sildenafil. 61
31916341 2020
22
"Leaky" and "Unstable" Neural Integrator Can Coexist-Paradox Observed in Multiple Sclerosis. 61
32304478 2020
23
Contralesional subjective visual horizontal predicts endolymphatic hydrops. 61
32552133 2020
24
Vestibular migraine and benign paroxysmal positional vertigo, close presentation dilemma. 61
32552124 2020
25
Two-Dimensional Analysis of Horizontal and Vertical Pursuit in Infantile Nystagmus Reveals Quantitative Deficits in Accuracy and Precision. 61
32526031 2020
26
Evaluating the impact of information and support for people with nystagmus in the digital age: A patient and carer questionnaire study. 61
31876191 2020
27
Associations between adult attachment and vision-related quality of life in visually impaired individuals. 61
32508123 2020
28
Foveation dynamics in congenital nystagmus IV: vergence. 61
31776760 2020
29
Re: The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus. 61
32522480 2020
30
Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority. 61
31896775 2020
31
Evaluation of Semicircular Canal Function by Video Head Impulse Test in Patients With Facial Nerve Schwannoma. 61
32080027 2020
32
See-saw nystagmus in giant craniopharyngioma. 61
32487534 2020
33
Double-blind randomized controlled trial on efficacy of cupulolith repositioning maneuver for treatment of apogeotropic horizontal canal benign paroxysmal positional vertigo. 61
32186237 2020
34
Genome-Wide Association Study Points New Direction for Downbeat Nystagmus Research. 61
32253642 2020
35
Gabapentin and Memantine for Treatment of Acquired Pendular Nystagmus: Effects on Visual Outcomes. 61
31169568 2020
36
Determinants for bedside lateralization of benign paroxysmal positional vertigo involving the horizontal semicircular canal. 61
32100125 2020
37
A new variant of posterior canal-benign paroxysmal positional vertigo-canalolithiasis. 61
32522381 2020
38
Modern machine-learning can support diagnostic differentiation of central and peripheral acute vestibular disorders. 61
32529578 2020
39
The Role of Staged Cryosurgery and Three-Dimensional Computed Tomography Integrated Navigation System in the Surgical Management of Severe Involvement of Craniofacial Polyostotic Fibrous Dysplasia. 61
32510903 2020
40
A Novel AIPL1 Nonsense Mutation: Case Report of Three Siblings Diagnosed with Leber Congenital Amaurosis. 61
31342828 2020
41
Diagnostic accuracy of a smartphone bedside test to assess the fixation suppression of the vestibulo-ocular reflex: when nothing else matters. 61
32488297 2020
42
Lateral Semicircular Canal BPPV…Are We Still Ignorant? 61
32551274 2020
43
Presentation, surgery and 1-year outcomes of childhood cataract surgery in Tanzania. 61
32522793 2020
44
Simultaneous Bilateral Pediatric and Juvenile Cataract Surgery Under General Anesthesia: Outcomes and Safety. 61
31945328 2020
45
NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum. 61
32518176 2020
46
Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome. 61
32232962 2020
47
Using VR to Investigate the Relationship between Visual Acuity and Severity of Simulated Oscillopsia. 61
32546022 2020
48
Modulatory effects of magnetic vestibular stimulation on resting-state networks can be explained by subject-specific orientation of inner-ear anatomy in the MR static magnetic field. 61
32529576 2020
49
The efficacy of low vision aids with contact lenses in pediatric population. 61
32488591 2020
50
Asymmetry in Gaze-Holding Impairment in Acute Unilateral Ischemic Cerebellar Lesions Critically Depends on the Involvement of the Caudal Vermis and the Dentate Nucleus. 61
32519289 2020
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Variations for Pathologic Nystagmus

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ClinVar genetic disease variations for Pathologic Nystagmus:

6 (show all 48) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RHO NM_000539.3(RHO):c.891C>G (p.Ser297Arg)SNV Pathogenic 523376 rs142285818 3:129251570-129251570 3:129532727-129532727
2 TFAP2A NM_001032280.3(TFAP2A):c.1019_1020del (p.Lys340fs)deletion Pathogenic 523459 rs1554110735 6:10398926-10398927 6:10398693-10398694
3 MKS1 NM_001165927.1(MKS1):c.1136-2A>CSNV Pathogenic 523519 rs1488635637 17:56285364-56285364 17:58208003-58208003
4 CLUH , METTL16 , PAFAH1B1 , RAP1GAP2 GRCh37/hg19 17p13.3(chr17:2339561-2826073)copy number loss Pathogenic 523261 17:2339561-2826073
5 SIX6 NM_007374.3(SIX6):c.547G>C (p.Asp183His)SNV Pathogenic 637058 14:60976663-60976663 14:60509945-60509945
6 HARS1 NM_002109.6(HARS1):c.616G>T (p.Asp206Tyr)SNV Pathogenic 804285 5:140057507-140057507 5:140677922-140677922
7 HARS1 NM_002109.6:c.730delGdeletion Pathogenic 804286
8 RPE65 NM_000329.3(RPE65):c.1084C>T (p.Gln362Ter)SNV Pathogenic 812758 1:68903914-68903914 1:68438231-68438231
9 CEP290 NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter)SNV Pathogenic 1339 rs137852834 12:88477713-88477713 12:88083936-88083936
10 TYR NM_000372.5(TYR):c.1A>G (p.Met1Val)SNV Pathogenic 3807 rs28940881 11:88911122-88911122 11:89177954-89177954
11 SGSH NM_000199.5(SGSH):c.892T>C (p.Ser298Pro)SNV Pathogenic 30459 rs138504221 17:78185927-78185927 17:80212128-80212128
12 NMNAT1 NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys)SNV Pathogenic 37134 rs150726175 1:10042688-10042688 1:9982630-9982630
13 SETX NM_015046.7(SETX):c.5222dup (p.Asp1742fs)duplication Pathogenic 183294 rs730882209 9:135201762-135201763 9:132326375-132326376
14 GNB1 NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)SNV Pathogenic 208722 rs752746786 1:1737942-1737942 1:1806503-1806503
15 MYO5A NM_000259.3(MYO5A):c.4200C>G (p.Ser1400Arg)SNV Pathogenic 242881 rs1114167290 15:52632432-52632432 15:52340235-52340235
16 CNGB3 NM_019098.4(CNGB3):c.819_826del (p.Arg274fs)deletion Pathogenic 374027 rs775796581 8:87679179-87679186 8:86666951-86666958
17 CEP290 NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter)SNV Pathogenic 373994 rs1057518822 12:88496665-88496665 12:88102888-88102888
18 GALC NM_000153.4(GALC):c.850G>A (p.Gly284Ser)SNV Pathogenic/Likely pathogenic 374024 rs377274761 14:88434737-88434737 14:87968393-87968393
19 KIF7 NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser)SNV Pathogenic/Likely pathogenic 374124 rs758361736 15:90193067-90193067 15:89649836-89649836
20 CASK NM_003688.3(CASK):c.2506-2A>GSNV Pathogenic/Likely pathogenic 265316 rs398122845 X:41383289-41383289 X:41524036-41524036
21 TMEM67 NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter)SNV Pathogenic/Likely pathogenic 506012 rs765468645 8:94777641-94777641 8:93765413-93765413
22 PAX6 NM_019040.5(ELP4):c.*6411T>ASNV Pathogenic/Likely pathogenic 3474 rs121907922 11:31811483-31811483 11:31789935-31789935
23 SGSH NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer)deletion Pathogenic/Likely pathogenic 287037 rs752914124 17:78184478-78184488 17:80210679-80210689
24 TMEM67 NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)SNV Pathogenic/Likely pathogenic 217725 rs752362727 8:94798483-94798483 8:93786255-93786255
25 GNB1 NM_002074.5(GNB1):c.284T>C (p.Leu95Pro)SNV Pathogenic/Likely pathogenic 224716 rs869312824 1:1736004-1736004 1:1804565-1804565
26 TYR NM_000372.5(TYR):c.1037-7T>ASNV Pathogenic/Likely pathogenic 99527 rs61754381 11:88960984-88960984 11:89227816-89227816
27 TMEM67 NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)SNV Pathogenic/Likely pathogenic 1383 rs201893408 8:94808198-94808198 8:93795970-93795970
28 INPP4A NM_001134225.2(INPP4A):c.350_351TC[1] (p.Ser118fs)short repeat Likely pathogenic 804386 2:99152270-99152271 2:98535807-98535808
29 CASK NM_003688.3(CASK):c.2221+1delinsATindel Likely pathogenic 523464 rs1555975523 X:41394145-41394145 X:41534892-41534892
30 TMEM67 NM_153704.6(TMEM67):c.2418_2423dup (p.805_806MN[3])duplication Likely pathogenic 523562 rs1554558365 8:94817079-94817080 8:93804851-93804852
31 OTX2 NM_021728.4(OTX2):c.191_193delinsGG (p.Leu64fs)indel Likely pathogenic 523565 rs1555350397 14:57270986-57270988 14:56804268-56804270
32 COQ8A NM_020247.5(COQ8A):c.1744dup (p.Ser582fs)duplication Likely pathogenic 183336 rs1553281318 1:227174237-227174238 1:226986536-226986537
33 GALC NM_000153.4(GALC):c.196G>A (p.Ala66Thr)SNV Likely pathogenic 374023 rs1057518843 14:88454867-88454867 14:87988523-87988523
34 COL18A1 NM_030582.4(COL18A1):c.1469-2A>GSNV Likely pathogenic 373962 rs765919785 21:46897323-46897323 21:45477409-45477409
35 COL18A1 NM_030582.4(COL18A1):c.3979C>T (p.Arg1327Ter)SNV Likely pathogenic 373961 rs1057518802 21:46929468-46929468 21:45509554-45509554
36 NDP NM_000266.4(NDP):c.314C>T (p.Ala105Val)SNV Likely pathogenic 374014 rs1057518836 X:43809133-43809133 X:43949887-43949887
37 OPHN1 NM_002547.3(OPHN1):c.746T>C (p.Leu249Pro)SNV Likely pathogenic 374192 rs1057518963 X:67430081-67430081 X:68210239-68210239
38 GPR143 NM_000273.3(GPR143):c.12_36del (p.Leu6fs)deletion Likely pathogenic 373941 rs1057518787 X:9733822-9733846 X:9765782-9765806
39 GUCY2D NM_000180.4(GUCY2D):c.1315G>A (p.Gly439Arg)SNV Conflicting interpretations of pathogenicity 374028 rs140638938 17:7909969-7909969 17:8006651-8006651
40 RUBCN NM_014687.4(RUBCN):c.1642A>G (p.Thr548Ala)SNV Conflicting interpretations of pathogenicity 242883 rs767982852 3:197421288-197421288 3:197694417-197694417
41 RUBCN NM_014687.4(RUBCN):c.319G>A (p.Glu107Lys)SNV Conflicting interpretations of pathogenicity 242884 rs1114167292 3:197431557-197431557 3:197704686-197704686
42 GUCY2D NM_000180.3(GUCY2D):c.129_134delTCTGCT (p.Leu44_Leu45del)deletion Conflicting interpretations of pathogenicity 283615 rs552184470 17:7906489-7906494 17:8003171-8003176
43 MKS1 NM_001165927.1(MKS1):c.1446T>G (p.Cys482Trp)SNV Conflicting interpretations of pathogenicity 1393 rs137853105 17:56283840-56283840 17:58206479-58206479
44 MIP NM_012064.4(MIP):c.513del (p.His172fs)deletion Uncertain significance 834061 12:56847387-56847387 12:56453603-56453603
45 BCORL1 NM_021946.4(BCORL1):c.532A>G (p.Thr178Ala)SNV Uncertain significance 598967 rs778220343 X:129147280-129147280 X:130013304-130013304
46 46;XY;t(4;14)(p15.32;q32.1)dnTranslocation Uncertain significance 267808
47 46;XY;t(2;14)(p23;q13)dnTranslocation Uncertain significance 267852
48 46;XY;t(4;14)(p14;q11.2)dnTranslocation Uncertain significance 267927
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Expression for Pathologic Nystagmus

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Search GEO for disease gene expression data for Pathologic Nystagmus.
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Pathways for Pathologic Nystagmus

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Pathways related to Pathologic Nystagmus according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Phototransduction 36
Show member pathways
 11.45 RPE65 RHO GNB1 CNGB3
2
Visual Cycle in Retinal Rods 63
11.3 RPE65 RHO CNGB3
3
Ectoderm Differentiation 1
11.08 TFAP2A SIX6 PAX6 MKS1
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GO Terms for Pathologic Nystagmus

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Cellular components related to Pathologic Nystagmus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.8 TMEM67 SETX RHO MKS1 KIF7 FRMD7
2 ciliary membrane GO:0060170 9.5 TMEM67 RHO CASK
3 photoreceptor outer segment membrane GO:0042622 9.37 RHO GNB1
4 ciliary transition zone GO:0035869 9.33 TMEM67 MKS1 CEP290
5 photoreceptor outer segment GO:0001750 9.26 RHO MYO5A GNB1 CNGB3
6 MKS complex GO:0036038 8.8 TMEM67 MKS1 CEP290

Biological processes related to Pathologic Nystagmus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.5 TMEM67 MKS1 CEP290
2 eye photoreceptor cell development GO:0042462 9.37 PAX6 CEP290
3 melanin biosynthetic process GO:0042438 9.26 TYR MYO5A
4 retina development in camera-type eye GO:0060041 9.26 RPE65 RHO PAX6 GNB1
5 visual perception GO:0007601 9.17 TYR SIX6 RPE65 RHO PAX6 MYO5A
6 rhodopsin mediated signaling pathway GO:0016056 9.16 RHO GNB1

Molecular functions related to Pathologic Nystagmus according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.17 TYR TFAP2A SETX NMNAT1 MYO5A HARS1
Sources

Sources for Pathologic Nystagmus

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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