Pathologic Nystagmus

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Pathologic Nystagmus

MalaCards integrated aliases for Pathologic Nystagmus:

Name: Pathologic Nystagmus 12 15
Nystagmus 72


External Ids:

Disease Ontology 12 DOID:9650
ICD9CM 35 379.50
MeSH 44 D009759
NCIt 50 C3282
SNOMED-CT 68 563001
ICD10 33 H55.0 H55.00
UMLS 72 C0028738

Summaries for Pathologic Nystagmus

MalaCards based summary : Pathologic Nystagmus, also known as nystagmus, is related to congenital nystagmus and isolated foveal hypoplasia, 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 Ectoderm Differentiation 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 behavior/neurological

Wikipedia : 75 Nystagmus is a condition of involuntary (or voluntary, in some cases) eye movement, acquired in infancy... more...

Related Diseases for Pathologic Nystagmus

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

(show all 37)
# Related Disease Score Top Affiliating Genes
1 congenital nystagmus 32.6 TYR SLC38A8 PAX6 GPR143 FRMD7 CASK
2 isolated foveal hypoplasia 10.8 SLC38A8 PAX6
3 meckel syndrome, type 4 10.8 MKS1 CEP290
4 oligocone trichromacy 10.7 CNGB3 CNGA3
5 achromatopsia 4 10.7 CNGB3 CNGA3
6 joubert syndrome 6 10.7 TMEM67 MKS1 CEP290
7 encephalocele 10.7 TMEM67 MKS1 CEP290
8 x-linked infantile nystagmus 10.7 GPR143 FRMD7
9 coloboma of iris 10.7 TMEM67 TFAP2A PAX6
10 meckel syndrome, type 3 10.7 TMEM67 MKS1 CEP290
11 meckel syndrome, type 2 10.7 TMEM67 MKS1
12 bardet-biedl syndrome 13 10.7 TMEM67 MKS1 CEP290
13 senior-loken syndrome 1 10.7 TMEM67 MKS1 CEP290
14 blue cone monochromacy 10.6 RHO CNGB3 CNGA3
15 jalili syndrome 10.6 CNGB3 CNGA3
16 visual epilepsy 10.6 MYO5A GNB1 GALC
17 hereditary retinal dystrophy 10.6 RHO CEP290
18 retinal disease 10.6 RHO CNGB3 CEP290
19 achromatopsia 2 10.6 CNGB3 CNGA3
20 color blindness 10.6 SLC38A8 CNGB3 CNGA3
21 choroid disease 10.6 RHO CNGB3
22 meckel syndrome, type 1 10.6 TMEM67 MKS1 CEP290
23 coloboma of macula 10.6 TMEM67 TFAP2A PAX6 CEP290
24 coloboma, ocular, autosomal dominant 10.5 TMEM67 PAX6
25 achromatopsia 10.5 SLC38A8 CNGB3 CNGA3
26 fundus dystrophy 10.5 RHO CNGB3 CNGA3 CEP290
27 cone-rod dystrophy 8 10.4 CNGB3 CNGA3
28 strabismus 10.4 TYR GPR143 GNB1 GALC FRMD7
29 leber congenital amaurosis 10.3 SLC38A8 RHO CNGB3 CNGA3 CEP290
30 retinitis pigmentosa 44 10.3 CNGB3 CNGA3
31 colorblindness, partial, protan series 10.2 RHO CNGB3
32 episodic ataxia, type 2 9.7
33 ataxia and polyneuropathy, adult-onset 9.7
34 benign paroxysmal positional nystagmus 9.7
35 vestibular nystagmus 9.7
36 episodic ataxia 9.7
37 myoclonus 9.7

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

Symptoms & Phenotypes for Pathologic Nystagmus

UMLS symptoms related to Pathologic Nystagmus:

ophthalmoplegia, neurologic symptoms, deficiencies of smooth pursuit movements

MGI Mouse Phenotypes related to Pathologic Nystagmus:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.26 CASK CEP290 CNGB3 GALC GNB1 MKS1
2 behavior/neurological MP:0005386 10.19 CASK CEP290 CNGA3 GALC GNB1 MYO5A
3 nervous system MP:0003631 10.13 CASK CEP290 CNGA3 CNGB3 GALC GNB1
4 craniofacial MP:0005382 10.11 CASK CEP290 GALC MKS1 MYO5A PAX6
5 immune system MP:0005387 10.1 CEP290 GALC MKS1 MYO5A PAX6 RHO
6 mortality/aging MP:0010768 10.1 CASK CEP290 GALC GNB1 MKS1 MYO5A
7 hearing/vestibular/ear MP:0005377 9.91 MKS1 MYO5A PAX6 RDX TFAP2A TYR
8 limbs/digits/tail MP:0005371 9.91 CASK GALC MKS1 MYO5A TFAP2A TMEM67
9 pigmentation MP:0001186 9.7 CEP290 GPR143 MYO5A PAX6 RHO TFAP2A
10 skeleton MP:0005390 9.61 CASK CEP290 FRMD7 GALC MKS1 PAX6
11 vision/eye MP:0005391 9.4 CASK CEP290 CNGA3 CNGB3 GALC GPR143

Drugs & Therapeutics for Pathologic Nystagmus

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

(show top 50) (show all 144)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
Brinzolamide Approved Phase 4 138890-62-7 68844
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
Codeine Approved, Illicit Phase 4 76-57-3 5284371
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
Sodium citrate Approved, Investigational Phase 4 68-04-2
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
Aspartic acid Approved, Nutraceutical Phase 4 56-84-8 5960
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
Butyric Acid Experimental, Investigational Phase 4 107-92-6 264
18 Antimanic Agents Phase 4
19 Anticonvulsants Phase 4
20 Pharmaceutical Solutions Phase 4
21 Ophthalmic Solutions Phase 4
22 Carbonic Anhydrase Inhibitors Phase 4
23 Tranquilizing Agents Phase 4
24 Anti-Anxiety Agents Phase 4
25 Excitatory Amino Acid Antagonists Phase 4
26 Psychotropic Drugs Phase 4
27 Excitatory Amino Acids Phase 4
28 Anesthetics, Local Phase 4
29 Antiemetics Phase 4
30 Gastrointestinal Agents Phase 4
31 GABA Agents Phase 4
32 Hypnotics and Sedatives Phase 4
33 GABA Modulators Phase 4
34 Anti-Inflammatory Agents Phase 4
35 Antihypertensive Agents Phase 4
36 Analgesics, Non-Narcotic Phase 4
37 Adrenergic alpha-2 Receptor Agonists Phase 4
38 glucocorticoids Phase 4
39 N-Methylaspartate Phase 4
40 HIV Protease Inhibitors Phase 4
41 Hormones Phase 4
protease inhibitors Phase 4
43 Antineoplastic Agents, Hormonal Phase 4
44 Hormone Antagonists Phase 4
45 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
46 BB 1101 Phase 4
47 Analgesics Phase 4
48 Citrate Phase 4
49 Narcotics Phase 4
50 Adjuvants, Anesthesia Phase 4

Interventional clinical trials:

(show top 50) (show all 75)
# 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 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
5 A Combination Study With Sub-Dissociative Ketamine and Fentanyl to Treat Moderate to Severe Pain in the Emergency Department Not yet recruiting NCT03959852 Phase 4 Fentanyl;Ketamine
6 Gentamicin Treatment Prior to Vestibular Schwannoma Surgery in Patients With no Measurable Remaining Vestibular Function Suspended NCT02415257 Phase 4 Gentamicin
7 Treatment of Geotropic Horizontal Canal Benign Paroxysmal Positional Vertigo; Randomized Controlled Trial of Barbeque Rotation and Gufoni Maneuver Completed NCT01366430 Phase 3
8 Randomized Multicenter Study of Treatment of Horizontal Canal Benign Paroxysmal Positional Vertigo Completed NCT00810641 Phase 3
9 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
10 Effect of Pioglitazone Administered to Patients With Friedreich's ATAXIA:Proof of Concept Completed NCT00811681 Phase 3 pioglitazone;Placebo
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 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
13 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
14 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 Not yet recruiting NCT03805152 Phase 3 Neuronox(R);Dysport (R)
15 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
16 Phase 2 Study of 4-Aminopyridine for the Treatment of Episodic Ataxia Type 2 Unknown status NCT01543750 Phase 2 4-Aminopyridine;Placebo
17 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
18 Horizontal Rectus Tenotomy in the Treatment of Congenital Nystagmus Completed NCT00001866 Phase 2
19 Treatment of Pendular Nystagmus With Gabapentin and Memantine in Patients With Multiple Sclerosis Completed NCT01744444 Phase 2 Memantine;Gabapentin
20 A Single Dose Pharmaco-Diagnostic for Peripheral Nerve Continuity After Trauma Not yet recruiting NCT04026568 Phase 1, Phase 2 4-Aminopyridine;Placebo oral tablet
21 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
22 Pilot Clinical Trial With Memantine for Cognitive Deficits in Patients With Multiple Sclerosis Terminated NCT00638833 Phase 2 Memantine;Placebo
23 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
24 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
25 Randomized Controlled Trials for Treatment of Benign Paroxysmal Positional Vertigo Unknown status NCT01822002
26 Study of the Effectiveness of Vestibular Stimulation as a Coadjuvant Treatment in the Depressive Phase of Bipolar Disorder Unknown status NCT02778256
27 Accuracy of a Diagnostic Algorithm for the Differential Diagnosis of Vertigo in the Emergency Department: the STANDING. Completed NCT02782962
28 Investigation and Treatment of Ocular Motor Disorders: Cross-over Comparison of Gabapentin and Memantine as Treatment for Nystagmus Completed NCT00928954 gabapentin;memantine
29 Screening Study for the Evaluation and Diagnosis of Potential Research Subjects With Nystagmus or Strabismus Completed NCT00001861
30 Effects of Vestibular Rehabilitation in the Treatment of Patients With Acute Vestibular Loss. - A Randomized Controlled Trial Completed NCT00702832
31 Diagnostic Accuracy of the Vibration Induced Nystagmus Test in Room Light. Completed NCT02626052
32 Evaluation of the Otolithic Organs Function in Patients Suffering From Benign Paroxysmal Positional Vertigo (BPPV) by Vestibular Evoked Myogenic Potentials (VEMP). Completed NCT01004913
33 Vertigo Perception and Quality of Life in Patients After Surgical Treatment of Vestibular Schwannoma With Pretreatment Prehabituation by Chemical Vestibular Ablation Completed NCT02963896 gentamicin
34 Clinical Aspects of Patients With Benign Paroxysmal Positional Vertigo (BPPV) and Migraine Completed NCT02615314
35 Production of a Device to Obtain Continuous Ambulatory Vestibular Assessment (CAVA) - Healthy Volunteer Trial Completed NCT03661762
36 Functional Link Between Hippocampal and Vestibular Systems: a Pilot Study in Epilepsy Surgery Principal Investigator: Elizabeth VITTE Completed NCT01285921
37 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
38 Early Postoperative Imaging of the Labyrinth by Cone Beam CT After Stapes Surgery for Otosclerosis With Correlation to Audiovestibular Outcome Completed NCT02901093
39 Quantification of Posterior Capsule Opacity With Software Analysis Comparing Intraocular Lenses Hydrophilic x Hydrophobic in Pediatric Cataracts Completed NCT02968290
40 A Long-term Postoperative Outcome After Bilateral Congenital Cataract Surgery in Eyes With Microphthalmos Completed NCT01818037
41 Clinical and Genetic Characterization of Individuals With Achromatopsia Completed NCT01846052
42 Randomized Multicenter Study of Benign Paroxysmal Positional Vertigo Treatment in Biaxial Rotational Chair Completed NCT01905800
43 Feasibility and Safety of a Telemedically Performed Three-Component Oculomotor Testing Battery (HINTS) in Healthy Adults Completed NCT02938221
44 Value of Copeptin and the S-100b Protein Assay in Ruling Out the Diagnosis of Stroke-induced Dizziness Pattern in Emergency Departments Completed NCT03974464
45 Effect of the Cranial Osteopathic Techniques on the Symptoms of Benign Paroxysmal Positional Vertigo Completed NCT03854084
46 Phenotype-Genotype Correlation in Aniridia Completed NCT00265590
47 Diagnostic Utility of Emergency Electroencephalography in Identifying Non-convulsive Seizure and Subclinical Status Epilepticus in Patients With Altered Mental Status Completed NCT01355211
48 VOR Suppression in Non-Gymnast Adults Completed NCT03227718
49 A Randomized Placebo-controlled Trial to Investigate the Effect of Lutein and Zeaxanthin Supplementation on Macular Pigment and Visual Function in Albinism - LUtein for VIsion in Albinism (LUVIA) Completed NCT02200263
50 Evaluation and Treatment Protocol for Patients With Pediatric Eye Diseases and Strabismus Completed NCT00006422

Search NIH Clinical Center for Pathologic Nystagmus

Genetic Tests for Pathologic Nystagmus

Anatomical Context for Pathologic Nystagmus

MalaCards organs/tissues related to Pathologic Nystagmus:

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

Publications for Pathologic Nystagmus

Articles related to Pathologic Nystagmus:

(show top 50) (show all 12681)
# Title Authors PMID Year
A survey of current management of Benign Paroxysmal Positional Vertigo (BPPV) by physiotherapists' interested in vestibular rehabilitation in the UK. 38
30389100 2019
An Educational Intervention for Acute Dizziness Care: A Randomized, Vignette-based Study. 38
31415482 2019
Infantile Optic Pathway Glioblastoma. 38
31158532 2019
High-dose Anderson operation for nystagmus-related anomalous head turn. 38
31201488 2019
Management of head tilt in infantile nystagmus syndrome: A case report. 38
31436205 2019
Can the Red Reflex Test Detect Unequal Refractive Error? 38
31378518 2019
Optic Disc Coloboma in children - prevalence, clinical characteristics and associated morbidity. 38
30549247 2019
Two cases of Tullio phenomenon in which oval and round window reinforcement surgery was effective. 38
30573214 2019
Correlation between electroretinography, foveal anatomy and visual acuity in albinism. 38
30927186 2019
Acute vestibular syndrome associated with anti-GQ1b antibody. 38
31399495 2019
Monocular nystagmus in a patient with alternating hemiplegia of childhood. 38
31427486 2019
Dizziness handicap and clinical characteristics of posterior and lateral canal BPPV. 38
31089808 2019
The Efficacy of a Home Treatment Program Combined With Office-Based Canalith Repositioning Procedure for Benign Paroxysmal Positional Vertigo-A Randomized Controlled Trial. 38
31295205 2019
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene. 38
31058429 2019
Successful management of acute bilirubin encephalopathy in a dog with immune-mediated hemolytic anemia using therapeutic plasma exchange. 38
31423707 2019
Aperiodic alternating nystagmus in isolated vestibular nucleus infarction. 38
31410550 2019
Optokinetic Analysis in Patients With Spontaneous Horizontal Gaze-Evoked Nystagmus Without Radiological Neuropathology. 38
30961372 2019
Graded Anderson procedure for correcting abnormal head posture in infantile nystagmus. 38
30911098 2019
Direction-Changing and Direction-Fixed Positional Nystagmus in Patients With Vestibular Neuritis and Meniere Disease. 38
30509014 2019
Visual Function, Brain Imaging, and Physiological Factors in Children With Asymmetric Nystagmus due to Chiasmal Gliomas. 38
31113715 2019
Corrective Saccades in Unilateral and Bilateral Vestibular Hypofunction During Slow Rotation Expressed by Visually Enhanced VOR and VOR Suppression: Role of the Cerebellum. 38
31396823 2019
Value of copeptin and the S-100b protein assay in ruling out the diagnosis of stroke-induced dizziness pattern in emergency departments. 38
31387626 2019
Targeted panel sequencing identifies a novel NR2F1 mutations in a patient with Bosch-Boonstra-Schaaf optic atrophy syndrome. 38
31393201 2019
Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease. 38
31270756 2019
Infantile-onset spinocerebellar ataxia type 5 associated with a novel SPTBN2 mutation: A case report. 38
30898343 2019
Expansion of the clinical spectrum associated with AARS2-related disorders. 38
31099476 2019
Comparative study of visual dysfunctions in 6-10-year-old very preterm- and full-term-born children. 38
29916121 2019
A family with a mild form of congenital nystagmus and optic disc coloboma caused by a novel PAX6 mutation. 38
30986449 2019
Expanding the phenotypic spectrum of MBOAT7-related intellectual disability. 38
31282596 2019
Aniridia with lenticular and choroidal coloboma. 38
31342778 2019
Impact of 4-aminopyridine on vestibulo-ocular reflex performance. 38
31270663 2019
Effect of the novel histamine H4 receptor antagonist SENS-111 on spontaneous nystagmus in a rat model of acute unilateral vestibular loss. 38
31347148 2019
An investigation into the diagnostic accuracy, reliability, acceptability and safety of a novel device for Continuous Ambulatory Vestibular Assessment (CAVA). 38
31320726 2019
Safety Considerations of 7-T MRI in Clinical Practice. 38
31310177 2019
Facial Nerve Hematoma After Penetrating Middle Ear Trauma: A Cause of Delayed Facial Palsy. 38
31356480 2019
A Novel AIPL1 Nonsense Mutation: Case Report of Three Siblings Diagnosed with Leber Congenital Amaurosis. 38
31342828 2019
Central Conditions Mimicking Benign Paroxysmal Positional Vertigo: A Case Series. 38
31136448 2019
Hemorrhagic Soft Tissue Upper Airway Obstruction From Brodifacoum-Contaminated Synthetic Cannabinoid. 38
31078349 2019
Towards computerized diagnosis of neurological stance disorders: data mining and machine learning of posturography and sway. 38
31286203 2019
A novel variant m.641A>T in the mitochondrial MT-TF gene is associated with epileptic encephalopathy in adolescent. 38
31009750 2019
Diagnosis strategy and Yacovino maneuver for anterior canal-benign paroxysmal positional vertigo. 38
30963252 2019
Clinical Characteristics of Acute Vestibular Neuritis According to Involvement Site. 38
30964776 2019
Lateralization of horizontal semicircular canal benign paroxysmal positional vertigo (HSC-BPPV) with the latency test: a pilot study. 38
31282790 2019
A new treatment (the affected-ear-up 90° maneuver) for benign paroxysmal positional vertigo of the lateral semicircular canal. 38
31066612 2019
A comparison of benign positional vertigo and stroke patients presenting to the emergency department with vertigo or dizziness. 38
31358317 2019
Measuring vision using innate behaviours in mice with intact and impaired retina function. 38
31316114 2019
Vestibular atelectasis: Decoding pressure and sound-induced nystagmus with bilateral vestibulopathy. 38
30548864 2019
Don't Miss This! Red Flags in the Pediatric Eye Examination: Acquired Nystagmus. 38
31329055 2019
Isolated tonsilar infarction presenting with positional vertigo and nystagmus. 38
31317267 2019
Aperiodic Alternating Nystagmus in Lateral Medullary Strokes. 38
31104641 2019

Variations for Pathologic Nystagmus

ClinVar genetic disease variations for Pathologic Nystagmus:

6 (show all 39)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CNGB3 NM_019098.4(CNGB3): c.819_826del (p.Arg274fs) deletion Pathogenic rs775796581 8:87679179-87679186 8:86666951-86666958
2 CEP290 NM_025114.3(CEP290): c.2941C> T (p.Gln981Ter) single nucleotide variant Pathogenic rs1057518822 12:88496665-88496665 12:88102888-88102888
3 RHO NM_000539.3(RHO): c.891C> G (p.Ser297Arg) single nucleotide variant Pathogenic rs142285818 3:129251570-129251570 3:129532727-129532727
4 TFAP2A NM_003220.3(TFAP2A): c.1037_1038del (p.Lys346fs) deletion Pathogenic rs1554110735 6:10398926-10398927 6:10398693-10398694
5 CLUH ; METTL16 ; PAFAH1B1 ; RAP1GAP2 GRCh37/hg19 17p13.3(chr17: 2339561-2826073) copy number loss Pathogenic 17:2339561-2826073 :0-0
6 CEP290 NM_025114.3(CEP290): c.4723A> T (p.Lys1575Ter) single nucleotide variant Pathogenic rs137852834 12:88477713-88477713 12:88083936-88083936
7 MKS1 NM_017777.3(MKS1): c.1166-2A> C single nucleotide variant Pathogenic rs1488635637 17:56285364-56285364 17:58208003-58208003
8 SETX NM_015046.7(SETX): c.5222dup (p.Asp1742fs) duplication Pathogenic rs730882209 9:135201763-135201763 9:132326376-132326376
9 GNB1 NM_002074.5(GNB1): c.239T> C (p.Ile80Thr) single nucleotide variant Pathogenic rs752746786 1:1737942-1737942 1:1806503-1806503
10 RUBCN NM_014687.4(RUBCN): c.1642A> G (p.Thr548Ala) single nucleotide variant Pathogenic rs767982852 3:197421288-197421288 3:197694417-197694417
11 RUBCN NM_014687.4(RUBCN): c.319G> A (p.Glu107Lys) single nucleotide variant Pathogenic rs1114167292 3:197431557-197431557 3:197704686-197704686
12 MYO5A NM_000259.3(MYO5A): c.4200C> G (p.Ser1400Arg) single nucleotide variant Pathogenic rs1114167290 15:52632432-52632432 15:52340235-52340235
13 TYR NM_000372.5(TYR): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs28940881 11:88911122-88911122 11:89177954-89177954
14 TYR NM_000372.5(TYR): c.1037-7T> A single nucleotide variant Pathogenic rs61754381 11:88960984-88960984 11:89227816-89227816
15 CASK NM_003688.3(CASK): c.2506-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs398122845 X:41383289-41383289 X:41524036-41524036
16 TMEM67 NM_153704.5(TMEM67): c.1321C> T (p.Arg441Cys) single nucleotide variant Pathogenic/Likely pathogenic rs752362727 8:94798483-94798483 8:93786255-93786255
17 GNB1 NM_002074.5(GNB1): c.284T> C (p.Leu95Pro) single nucleotide variant Pathogenic/Likely pathogenic rs869312824 1:1736004-1736004 1:1804565-1804565
18 TMEM67 NM_153704.5(TMEM67): c.514C> T (p.Arg172Ter) single nucleotide variant Pathogenic/Likely pathogenic rs765468645 8:94777641-94777641 8:93765413-93765413
19 PAX6 NM_000280.4(PAX6): c.1268A> T (p.Ter423Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121907922 11:31811483-31811483 11:31789935-31789935
20 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 8:94808198-94808198 8:93795970-93795970
21 GALC NM_000153.4(GALC): c.850G> A (p.Gly284Ser) single nucleotide variant Pathogenic/Likely pathogenic rs377274761 14:88434737-88434737 14:87968393-87968393
22 GALC NM_000153.4(GALC): c.196G> A (p.Ala66Thr) single nucleotide variant Likely pathogenic rs1057518843 14:88454867-88454867 14:87988523-87988523
23 KIF7 NM_198525.3(KIF7): c.434A> C (p.Tyr145Ser) single nucleotide variant Likely pathogenic rs758361736 15:90193067-90193067 15:89649836-89649836
24 COL18A1 NM_030582.4(COL18A1): c.1469-2A> G single nucleotide variant Likely pathogenic rs765919785 21:46897323-46897323 21:45477409-45477409
25 COL18A1 NM_030582.4(COL18A1): c.3979C> T (p.Arg1327Ter) single nucleotide variant Likely pathogenic rs1057518802 21:46929468-46929468 21:45509554-45509554
26 NDP NM_000266.4(NDP): c.314C> T (p.Ala105Val) single nucleotide variant Likely pathogenic rs1057518836 X:43809133-43809133 X:43949887-43949887
27 OPHN1 NM_002547.3(OPHN1): c.746T> C (p.Leu249Pro) single nucleotide variant Likely pathogenic rs1057518963 X:67430081-67430081 X:68210239-68210239
28 GPR143 NM_000273.3(GPR143): c.12_36del (p.Leu6fs) deletion Likely pathogenic rs1057518787 X:9733822-9733846 X:9765782-9765806
29 TMEM67 NM_153704.5(TMEM67): c.2418_2423dup (p.805_806MN[3]) duplication Likely pathogenic rs1554558365 8:94817085-94817090 8:93804857-93804862
30 OTX2 NM_172337.3(OTX2): c.167_169delinsGG (p.Leu56fs) indel Likely pathogenic rs1555350397 14:57270986-57270988 14:56804268-56804270
31 CASK NM_003688.3(CASK): c.2221+1delinsAT indel Likely pathogenic rs1555975523 X:41394145-41394145 X:41534892-41534892
32 COQ8A NM_020247.5(COQ8A): c.1744dup (p.Ser582fs) duplication Likely pathogenic rs1553281318 1:227174238-227174238 1:226986537-226986537
33 GUCY2D NM_000180.3(GUCY2D): c.129_134delTCTGCT (p.Leu44_Leu45del) deletion Conflicting interpretations of pathogenicity rs552184470 17:7906494-7906499 17:8003176-8003181
34 MKS1 NM_017777.3(MKS1): c.1476T> G (p.Cys492Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137853105 17:56283840-56283840 17:58206479-58206479
35 GUCY2D NM_000180.3(GUCY2D): c.1315G> A (p.Gly439Arg) single nucleotide variant Uncertain significance rs140638938 17:7909969-7909969 17:8006651-8006651
36 BCORL1 NM_021946.4(BCORL1): c.532A> G (p.Thr178Ala) single nucleotide variant Uncertain significance X:129147280-129147280 X:130013304-130013304
37 46;XY;t(4;14)(p15.32;q32.1)dn Translocation Uncertain significance
38 46;XY;t(2;14)(p23;q13)dn Translocation Uncertain significance
39 46;XY;t(4;14)(p14;q11.2)dn Translocation Uncertain significance

Expression for Pathologic Nystagmus

Search GEO for disease gene expression data for Pathologic Nystagmus.

Pathways for Pathologic Nystagmus

GO Terms for Pathologic Nystagmus

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.87 TMEM67 SETX RHO RDX MKS1 FRMD7
2 lysosome GO:0005764 9.77 TYR RUBCN MYO5A GPR143 GALC
3 growth cone GO:0030426 9.67 SETX MYO5A FRMD7
4 melanosome GO:0042470 9.65 TYR MYO5A GPR143
5 ciliary membrane GO:0060170 9.58 TMEM67 RHO CASK
6 photoreceptor disc membrane GO:0097381 9.51 RHO GNB1
7 photoreceptor outer segment membrane GO:0042622 9.46 RHO GNB1
8 melanosome membrane GO:0033162 9.43 TYR GPR143
9 ciliary transition zone GO:0035869 9.33 TMEM67 MKS1 CEP290
10 transmembrane transporter complex GO:1902495 9.26 CNGB3 CNGA3
11 photoreceptor outer segment GO:0001750 9.13 RHO MYO5A CNGB3
12 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 9.58 TMEM67 MKS1 CEP290
2 melanosome transport GO:0032402 9.46 MYO5A GPR143
3 eye photoreceptor cell development GO:0042462 9.43 PAX6 CEP290
4 retina development in camera-type eye GO:0060041 9.43 RHO PAX6 GNB1
5 melanin biosynthetic process GO:0042438 9.37 TYR MYO5A
6 rhodopsin mediated signaling pathway GO:0016056 9.32 RHO GNB1
7 visual perception GO:0007601 9.17 TYR RHO PAX6 MYO5A GPR143 CNGB3
8 melanosome localization GO:0032400 9.16 MYO5A GPR143
9 eye pigment biosynthetic process GO:0006726 8.96 TYR GPR143

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

# Name GO ID Score Top Affiliating Genes
1 cGMP binding GO:0030553 9.16 CNGB3 CNGA3
2 intracellular cAMP-activated cation channel activity GO:0005222 8.96 CNGB3 CNGA3
3 intracellular cGMP-activated cation channel activity GO:0005223 8.62 CNGB3 CNGA3

Sources for Pathologic Nystagmus

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
Loading form....