MCID: PTH003
MIFTS: 51

Pathologic Nystagmus

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Pathologic Nystagmus

MalaCards integrated aliases for Pathologic Nystagmus:

Name: Pathologic Nystagmus 12 15
Nystagmus 71

Classifications:



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 H55.00
UMLS 71 C0028738

Summaries for Pathologic Nystagmus

MalaCards based summary : Pathologic Nystagmus, also known as nystagmus, is related to congenital nystagmus and coloboma of iris, 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 is Ectoderm Differentiation. 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 nervous system

Wikipedia : 74 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 top 50) (show all 91)
# Related Disease Score Top Affiliating Genes
1 congenital nystagmus 33.0 TYR PAX6 JRK GPR143 FRMD7 CRYZL1
2 coloboma of iris 10.8 TMEM67 TFAP2A PAX6
3 encephalocele 10.8 TMEM67 MKS1 CEP290
4 joubert syndrome 6 10.8 TMEM67 MKS1 CEP290
5 joubert syndrome 7 10.8 TMEM67 MKS1 CEP290
6 nephronophthisis 11 10.8 TMEM67 MKS1 CEP290
7 meckel syndrome, type 4 10.8 TMEM67 MKS1 CEP290
8 joubert syndrome 5 10.8 TMEM67 MKS1 CEP290
9 choroid disease 10.8 RHO CRYAA CNGB3 CEP290
10 joubert syndrome 2 10.8 TMEM67 MKS1 CEP290
11 nephronophthisis 7 10.7 TMEM67 MKS1 CEP290
12 joubert syndrome 4 10.7 TMEM67 MKS1 KIF7 CEP290
13 hydrolethalus syndrome 1 10.7 TMEM67 MKS1 KIF7 CEP290
14 joubert syndrome 3 10.7 TMEM67 MKS1 KIF7 CEP290
15 meckel syndrome, type 2 10.7 TMEM67 MKS1 CEP290
16 meckel syndrome, type 6 10.7 TMEM67 MKS1 CEP290
17 orofaciodigital syndrome vi 10.7 TMEM67 MKS1 KIF7 CEP290
18 sclerocornea 10.7 SIX6 PAX6 CRYAA
19 orofaciodigital syndrome 10.7 TMEM67 MKS1 KIF7 CEP290
20 meckel syndrome, type 5 10.7 TMEM67 MKS1 CEP290
21 color blindness 10.7 RHO FRMD7 CRYAA CNGB3
22 nephronophthisis 9 10.7 TMEM67 MKS1 CEP290
23 amblyopia 10.7 TFAP2A PAX6 GALC CRYAA
24 vitreous disease 10.7 RHO PAX6 CRYAA
25 meckel syndrome, type 3 10.7 TMEM67 MKS1 CEP290
26 nephronophthisis 10.7 TMEM67 MKS1 KIF7 CEP290
27 x-linked infantile nystagmus 10.7 GPR143 FRMD7
28 bardet-biedl syndrome 14 10.7 TMEM67 MKS1 CEP290
29 leber congenital amaurosis 2 10.7 RHO CRYAA CEP290
30 esotropia 10.7 TFAP2A PAX6 JRK CRYAA
31 physical disorder 10.7 PAX6 MKS1 CRYAA CEP290
32 apraxia 10.7 TMEM67 SETX KIF7 CEP290
33 nephronophthisis 2 10.7 TMEM67 MKS1 CEP290
34 albinism, oculocutaneous, type v 10.7 TYR GPR143
35 dissociated nystagmus 10.7 JRK FRMD7
36 lens subluxation 10.7 TFAP2A PAX6 CRYAA
37 achromatopsia 10.7 RHO FRMD7 CRYAA CNGB3 CEP290
38 retinal disease 10.7 RHO PAX6 CRYAA CNGB3 CEP290
39 joubert syndrome 26 10.7 TMEM67 KIF7
40 cranioectodermal dysplasia 1 10.7 TMEM67 MKS1 CEP290
41 stargardt disease 10.7 RHO CRYAA CNGB3 CEP290
42 lens disease 10.7 RHO PAX6 CRYAA
43 joubert syndrome 13 10.7 TMEM67 KIF7
44 ochronosis 10.7 TYR CRYAA
45 congenital stationary night blindness 10.7 RHO CRYZL1 CRYAA CNGB3 CEP290
46 aniridia 1 10.7 PAX6 FRMD7 CRYAA
47 meckel syndrome, type 1 10.7 TMEM67 RHO MKS1 KIF7 CEP290
48 senior-loken syndrome 1 10.7 TMEM67 MKS1 CEP290
49 macular degeneration, age-related, 1 10.7 TYR RHO PAX6 CRYAA CNGB3 CEP290
50 joubert syndrome 9 10.7 TMEM67 CEP290

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.25 CASK CEP290 CNGB3 GALC GNB1 KIF7
2 nervous system MP:0003631 10.2 CASK CEP290 CNGB3 GALC GNB1 GPR143
3 craniofacial MP:0005382 10.1 CASK CEP290 GALC KIF7 MKS1 MYO5A
4 limbs/digits/tail MP:0005371 9.97 CASK GALC KIF7 MKS1 MYO5A TFAP2A
5 pigmentation MP:0001186 9.8 CEP290 GPR143 MYO5A PAX6 RHO TFAP2A
6 respiratory system MP:0005388 9.7 CASK CEP290 GNB1 KIF7 MKS1 PAX6
7 skeleton MP:0005390 9.65 CASK CEP290 FRMD7 GALC KIF7 MKS1
8 vision/eye MP:0005391 9.44 CASK CEP290 CNGB3 GALC GPR143 KIF7

Drugs & Therapeutics for Pathologic Nystagmus

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

(show top 50) (show all 140)
# 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
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
4
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
5
Sodium citrate Approved, Investigational Phase 4 68-04-2
6
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
7
Tramadol Approved, Investigational Phase 4 27203-92-5 33741
8
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
9
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
10
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
11
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
12
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
13
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
14
Codeine Approved, Illicit Phase 4 76-57-3 5284371
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 Antimanic Agents Phase 4
20 Pharmaceutical Solutions Phase 4
21 Ophthalmic Solutions Phase 4
22 Carbonic Anhydrase Inhibitors Phase 4
23 Anti-Anxiety Agents Phase 4
24 Analgesics Phase 4
25 Tranquilizing Agents Phase 4
26 Psychotropic Drugs Phase 4
27 Excitatory Amino Acid Antagonists Phase 4
28 Excitatory Amino Acids Phase 4
29 Antiemetics Phase 4
30 Anesthetics, Local Phase 4
31 Gastrointestinal Agents Phase 4
32 GABA Agents Phase 4
33 Hypnotics and Sedatives Phase 4
34 GABA Modulators Phase 4
35 Anesthetics, Dissociative Phase 4
36 Anesthetics, General Phase 4
37 Anesthetics, Intravenous Phase 4
38 Narcotics Phase 4
39 Analgesics, Opioid Phase 4
40 Citrate Phase 4
41 Adjuvants, Anesthesia Phase 4
42 HIV Protease Inhibitors Phase 4
43
protease inhibitors Phase 4
44 Anti-Inflammatory Agents Phase 4
45 Analgesics, Non-Narcotic Phase 4
46 Antihypertensive Agents Phase 4
47 Adrenergic alpha-2 Receptor Agonists Phase 4
48 Hormone Antagonists Phase 4
49 BB 1101 Phase 4
50 N-Methylaspartate Phase 4

Interventional clinical trials:

(show top 50) (show all 79)
# 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 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 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 Recruiting NCT03805152 Phase 3 Neuronox(R);Dysport (R)
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 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 Eye Tracking as a Biomarker of Cannabis Effects Recruiting NCT04100590 Phase 2 Cannabis
21 A Single Dose Pharmaco-Diagnostic for Peripheral Nerve Continuity After Trauma Not yet recruiting NCT04026568 Phase 1, Phase 2 4-Aminopyridine;Placebo oral tablet
22 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
23 Pilot Clinical Trial With Memantine for Cognitive Deficits in Patients With Multiple Sclerosis Terminated NCT00638833 Phase 2 Memantine;Placebo
24 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
25 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
26 Randomized Controlled Trials for Treatment of Benign Paroxysmal Positional Vertigo Unknown status NCT01822002
27 Study of the Effectiveness of Vestibular Stimulation as a Coadjuvant Treatment in the Depressive Phase of Bipolar Disorder Unknown status NCT02778256
28 Accuracy of a Diagnostic Algorithm for the Differential Diagnosis of Vertigo in the Emergency Department: the STANDING. Completed NCT02782962
29 Investigation and Treatment of Ocular Motor Disorders: Cross-over Comparison of Gabapentin and Memantine as Treatment for Nystagmus Completed NCT00928954 gabapentin;memantine
30 Screening Study for the Evaluation and Diagnosis of Potential Research Subjects With Nystagmus or Strabismus Completed NCT00001861
31 Effects of Vestibular Rehabilitation in the Treatment of Patients With Acute Vestibular Loss. - A Randomized Controlled Trial Completed NCT00702832
32 Diagnostic Accuracy of the Vibration Induced Nystagmus Test in Room Light. Completed NCT02626052
33 Evaluation of the Otolithic Organs Function in Patients Suffering From Benign Paroxysmal Positional Vertigo (BPPV) by Vestibular Evoked Myogenic Potentials (VEMP). Completed NCT01004913
34 Production of a Device to Obtain Continuous Ambulatory Vestibular Assessment (CAVA) - Healthy Volunteer Trial Completed NCT03661762
35 Vertigo Perception and Quality of Life in Patients After Surgical Treatment of Vestibular Schwannoma With Pretreatment Prehabituation by Chemical Vestibular Ablation Completed NCT02963896 gentamicin
36 Clinical Aspects of Patients With Benign Paroxysmal Positional Vertigo (BPPV) and Migraine Completed NCT02615314
37 Functional Link Between Hippocampal and Vestibular Systems: a Pilot Study in Epilepsy Surgery Principal Investigator: Elizabeth VITTE Completed NCT01285921
38 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
39 Early Postoperative Imaging of the Labyrinth by Cone Beam CT After Stapes Surgery for Otosclerosis With Correlation to Audiovestibular Outcome Completed NCT02901093
40 Clinical and Genetic Characterization of Individuals With Achromatopsia Completed NCT01846052
41 Quantification of Posterior Capsule Opacity With Software Analysis Comparing Intraocular Lenses Hydrophilic x Hydrophobic in Pediatric Cataracts Completed NCT02968290
42 A Long-term Postoperative Outcome After Bilateral Congenital Cataract Surgery in Eyes With Microphthalmos Completed NCT01818037
43 Randomized Multicenter Study of Benign Paroxysmal Positional Vertigo Treatment in Biaxial Rotational Chair Completed NCT01905800
44 Feasibility and Safety of a Telemedically Performed Three-Component Oculomotor Testing Battery (HINTS) in Healthy Adults Completed NCT02938221
45 Value of Copeptin and the S-100b Protein Assay in Ruling Out the Diagnosis of Stroke-induced Dizziness Pattern in Emergency Departments Completed NCT03974464
46 Effect of the Cranial Osteopathic Techniques on the Symptoms of Benign Paroxysmal Positional Vertigo Completed NCT03854084
47 Phenotype-Genotype Correlation in Aniridia Completed NCT00265590
48 Diagnostic Utility of Emergency Electroencephalography in Identifying Non-convulsive Seizure and Subclinical Status Epilepticus in Patients With Altered Mental Status Completed NCT01355211
49 VOR Suppression in Non-Gymnast Adults Completed NCT03227718
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:

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

Publications for Pathologic Nystagmus

Articles related to Pathologic Nystagmus:

(show top 50) (show all 12883)
# Title Authors PMID Year
1
Hearing Recovery After Ejection of Air in a Case of Traumatic Pneumolabyrinth: Mechanism and Management Options. 61
31821260 2020
2
Oculopalatal Tremor With Dissociated Pendular Nystagmus in Bilateral Inferior Olivary Hypertrophy. 61
31609843 2020
3
Disconjugate Nystagmus in a Child With Chiasmal Glioma. 61
31917099 2020
4
Comorbid Cupulolithiasis Is Rare in Patients With Horizontal Semicircular Canal Canalolithiasis. 61
31868781 2020
5
The Clinical Journey of Patients with Riboflavin Transporter Deficiency Type 2. 61
31868069 2020
6
Acute cerebellar ataxia: a rare Toscana Virus (TOSV) meningoencephalitis complication. 61
31554442 2020
7
A Possible Role of Video-Head Impulse Test in Detecting Canal Involvement in Benign Paroxysmal Positional Vertigo Presenting With Positional Downbeat Nystagmus. 61
31834874 2020
8
Physiology, clinical evidence and diagnostic relevance of sound-induced and vibration-induced vestibular stimulation. 61
31789675 2020
9
Vertigo and dizziness in the emergency room. 61
31743236 2020
10
Stroke-like episodes in OPA1 carriers require comprehensive work-up and therapeutic considerations. 61
31782039 2020
11
Long-term Outcomes Following Surgery for Infantile Nystagmus Syndrome With Abnormal Head Positioning. 61
31730837 2020
12
Right frontal eye field has perceptual and oculomotor functions during optokinetic stimulation and nystagmus. 61
31875488 2020
13
A robust method for calibration of eye tracking data recorded during nystagmus. 61
30825158 2020
14
Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination. 61
31509304 2020
15
Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia. 61
31865189 2020
16
A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing. 61
32022391 2020
17
The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus. 61
32032626 2020
18
Collapsin Response-Mediator Protein 5-Associated Retinitis, Vitritis, and Optic Disc Edema. 61
31676123 2020
19
Differential diagnosis of acute vascular vertigo. 61
31789704 2020
20
Early recognition of thiamine deficiency: ocular motor deficits in a patient with nutritional deprivation due to persistent antibiotic-related nausea. 61
31606875 2020
21
Central mimics of benign paroxysmal positional vertigo: an illustrative case series. 61
31691861 2020
22
Optimal reassessment time for treatment response in posterior canal benign paroxysmal positional vertigo. 61
30982972 2020
23
Cladophialophora encephalitis in an alpaca. 61
32020931 2020
24
Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort. 61
32022389 2020
25
GUCY2D-Associated Leber Congenital Amaurosis: A Retrospective Natural History Study in Preparation for Trials of Novel Therapies. 61
31704230 2020
26
Vestibular function in severe GH deficiency due to an inactivating mutation in the GH-releasing hormone receptor gene. 61
31902114 2020
27
Spontaneous resolution of dorsal midbrain syndrome caused by a pineal cyst. 61
32001401 2020
28
Functional Head Impulse Test With and Without Optokinetic Stimulation in Subjects With Persistent Postural Perceptual Dizziness (PPPD): Preliminary Report. 61
31789799 2020
29
Intravitreal application of AAV-BDNF or mutant AAV-CRMP2 protects retinal ganglion cells and stabilizes axons and myelin after partial optic nerve injury. 61
31904385 2020
30
Eye position signals in the dorsal pulvinar during fixation and goal-directed saccades. 61
31747331 2020
31
Electroretinograms in idiopathic infantile nystagmus, optic nerve hypoplasia and albinism. 61
30541351 2020
32
Ophthalmic findings in neonates receiving sildenafil. 61
31916341 2020
33
Prevalence and Treatment Outcome of Nasolacrimal Duct Obstruction in Saudi Children with Down Syndrome. 61
31976186 2020
34
Lacrimal Drainage Anomalies in CHARGE Syndrome: Case Report and Review of Literature. 61
31593046 2020
35
Eye movements and imaging in vestibular migraine. 61
30678846 2020
36
External trigeminal nerve stimulation: Potential rescue treatment for acute vestibular migraine. 61
31677559 2020
37
Subjective benign paroxysmal positional vertigo in patients with osteoporosis or migraine. 61
30482521 2020
38
Vertigo Due to Vascular Mechanisms. 61
31935768 2020
39
Vestibular, locomotor, and vestibulo-autonomic research: 50 years of collaboration with Bernard Cohen. 61
31747361 2020
40
Comparison of techniques for correction of chin-down vertical abnormal head position associated with infantile nystagmus syndrome. 61
31953059 2020
41
Management of nystagmus in children: a review of the literature and current practice in UK specialist services. 61
31919431 2020
42
Acute Vertical Pendular Nystagmus and Delayed Oculopalatal Tremor in a Patient with Bilateral Horizontal Gaze Palsy. 61
31942776 2020
43
Positional alcohol nystagmus and serum osmolality: New insights into dizziness associated with acute alcohol intoxication. 61
32018146 2020
44
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
45
Fingerprint Macula Artifact on Optos Fundus Imaging in Nystagmus. 61
31864477 2020
46
Clinical use of 4-aminopyridine in patients with downbeat nystagmus. 61
31078225 2020
47
An infant intracranial tumor with nystagmus. 61
31923113 2020
48
[A case of neuromyelitis optica spectrum disorder with persistent nausea and repeated syncope]. 61
31956194 2020
49
Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority. 61
31896775 2020
50
[A case of Alexander disease with repeated loss of consciousness and with rapid aggravation of dysbasia by falling]. 61
31956193 2020

Variations for Pathologic Nystagmus

ClinVar genetic disease variations for Pathologic Nystagmus:

6 (show all 41) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SETX NM_015046.7(SETX):c.5222dup (p.Asp1742fs)duplication Pathogenic 183294 rs730882209 9:135201762-135201763 9:132326375-132326376
2 GNB1 NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)SNV Pathogenic 208722 rs752746786 1:1737942-1737942 1:1806503-1806503
3 CEP290 NM_025114.3(CEP290):c.4723A>T (p.Lys1575Ter)SNV Pathogenic 1339 rs137852834 12:88477713-88477713 12:88083936-88083936
4 TYR NM_000372.5(TYR):c.1A>G (p.Met1Val)SNV Pathogenic 3807 rs28940881 11:88911122-88911122 11:89177954-89177954
5 MYO5A NM_000259.3(MYO5A):c.4200C>G (p.Ser1400Arg)SNV Pathogenic 242881 rs1114167290 15:52632432-52632432 15:52340235-52340235
6 CNGB3 NM_019098.4(CNGB3):c.819_826del (p.Arg274fs)deletion Pathogenic 374027 rs775796581 8:87679179-87679186 8:86666951-86666958
7 CEP290 NM_025114.3(CEP290):c.2941C>T (p.Gln981Ter)SNV Pathogenic 373994 rs1057518822 12:88496665-88496665 12:88102888-88102888
8 RHO NM_000539.3(RHO):c.891C>G (p.Ser297Arg)SNV Pathogenic 523376 rs142285818 3:129251570-129251570 3:129532727-129532727
9 TFAP2A NM_001032280.3(TFAP2A):c.1019_1020del (p.Lys340fs)deletion Pathogenic 523459 rs1554110735 6:10398926-10398927 6:10398693-10398694
10 MKS1 NM_001165927.1(MKS1):c.1136-2A>CSNV Pathogenic 523519 rs1488635637 17:56285364-56285364 17:58208003-58208003
11 CLUH , METTL16 , PAFAH1B1 , RAP1GAP2 GRCh37/hg19 17p13.3(chr17:2339561-2826073)copy number loss Pathogenic 523261 17:2339561-2826073
12 SIX6 NM_007374.3(SIX6):c.547G>C (p.Asp183His)SNV Pathogenic 637058 14:60976663-60976663 14:60509945-60509945
13 KIF7 NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser)SNV Pathogenic/Likely pathogenic 374124 rs758361736 15:90193067-90193067 15:89649836-89649836
14 TMEM67 NM_001142301.1(TMEM67):c.271C>T (p.Arg91Ter)SNV Pathogenic/Likely pathogenic 506012 rs765468645 8:94777641-94777641 8:93765413-93765413
15 GALC NM_000153.4(GALC):c.850G>A (p.Gly284Ser)SNV Pathogenic/Likely pathogenic 374024 rs377274761 14:88434737-88434737 14:87968393-87968393
16 CASK NM_003688.3(CASK):c.2506-2A>GSNV Pathogenic/Likely pathogenic 265316 rs398122845 X:41383289-41383289 X:41524036-41524036
17 TYR NM_000372.5(TYR):c.1037-7T>ASNV Pathogenic/Likely pathogenic 99527 rs61754381 11:88960984-88960984 11:89227816-89227816
18 TMEM67 NM_001142301.1(TMEM67):c.1600T>C (p.Cys534Arg)SNV Pathogenic/Likely pathogenic 1383 rs201893408 8:94808198-94808198 8:93795970-93795970
19 PAX6 NM_019040.5(ELP4):c.*6411T>ASNV Pathogenic/Likely pathogenic 3474 rs121907922 11:31811483-31811483 11:31789935-31789935
20 TMEM67 NM_001142301.1(TMEM67):c.1078C>T (p.Arg360Cys)SNV Pathogenic/Likely pathogenic 217725 rs752362727 8:94798483-94798483 8:93786255-93786255
21 GNB1 NM_002074.5(GNB1):c.284T>C (p.Leu95Pro)SNV Pathogenic/Likely pathogenic 224716 rs869312824 1:1736004-1736004 1:1804565-1804565
22 COQ8A NM_020247.5(COQ8A):c.1744dup (p.Ser582fs)duplication Likely pathogenic 183336 rs1553281318 1:227174237-227174238 1:226986536-226986537
23 GALC NM_000153.4(GALC):c.196G>A (p.Ala66Thr)SNV Likely pathogenic 374023 rs1057518843 14:88454867-88454867 14:87988523-87988523
24 COL18A1 NM_030582.4(COL18A1):c.1469-2A>GSNV Likely pathogenic 373962 rs765919785 21:46897323-46897323 21:45477409-45477409
25 COL18A1 NM_030582.4(COL18A1):c.3979C>T (p.Arg1327Ter)SNV Likely pathogenic 373961 rs1057518802 21:46929468-46929468 21:45509554-45509554
26 NDP NM_000266.4(NDP):c.314C>T (p.Ala105Val)SNV Likely pathogenic 374014 rs1057518836 X:43809133-43809133 X:43949887-43949887
27 OPHN1 NM_002547.3(OPHN1):c.746T>C (p.Leu249Pro)SNV Likely pathogenic 374192 rs1057518963 X:67430081-67430081 X:68210239-68210239
28 GPR143 NM_000273.3(GPR143):c.12_36del (p.Leu6fs)deletion Likely pathogenic 373941 rs1057518787 X:9733822-9733846 X:9765782-9765806
29 TMEM67 NM_001142301.1(TMEM67):c.2175_2180dup (p.724_725MN[3])duplication Likely pathogenic 523562 rs1554558365 8:94817079-94817080 8:93804851-93804852
30 OTX2 NM_021728.4(OTX2):c.191_193delinsGG (p.Leu64fs)indel Likely pathogenic 523565 rs1555350397 14:57270986-57270988 14:56804268-56804270
31 INPP4A NM_001134225.2(INPP4A):c.350_351TC[1] (p.Ser118fs)short repeat Likely pathogenic 804386 2:99152270-99152271 2:98535807-98535808
32 CASK NM_003688.3(CASK):c.2221+1delinsATindel Likely pathogenic 523464 rs1555975523 X:41394145-41394145 X:41534892-41534892
33 GUCY2D NM_000180.3(GUCY2D):c.129_134delTCTGCT (p.Leu44_Leu45del)deletion Conflicting interpretations of pathogenicity 283615 rs552184470 17:7906489-7906494 17:8003171-8003176
34 GUCY2D NM_000180.3(GUCY2D):c.1315G>A (p.Gly439Arg)SNV Conflicting interpretations of pathogenicity 374028 rs140638938 17:7909969-7909969 17:8006651-8006651
35 MKS1 NM_001165927.1(MKS1):c.1446T>G (p.Cys482Trp)SNV Conflicting interpretations of pathogenicity 1393 rs137853105 17:56283840-56283840 17:58206479-58206479
36 RUBCN NM_014687.4(RUBCN):c.1642A>G (p.Thr548Ala)SNV Conflicting interpretations of pathogenicity 242883 rs767982852 3:197421288-197421288 3:197694417-197694417
37 RUBCN NM_014687.4(RUBCN):c.319G>A (p.Glu107Lys)SNV Conflicting interpretations of pathogenicity 242884 rs1114167292 3:197431557-197431557 3:197704686-197704686
38 46;XY;t(4;14)(p15.32;q32.1)dnTranslocation Uncertain significance 267808
39 46;XY;t(2;14)(p23;q13)dnTranslocation Uncertain significance 267852
40 46;XY;t(4;14)(p14;q11.2)dnTranslocation Uncertain significance 267927
41 BCORL1 NM_021946.4(BCORL1):c.532A>G (p.Thr178Ala)SNV Uncertain significance 598967 rs778220343 X:129147280-129147280 X:130013304-130013304

Expression for Pathologic Nystagmus

Search GEO for disease gene expression data for Pathologic Nystagmus.

Pathways for Pathologic Nystagmus

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

# Super pathways Score Top Affiliating Genes
1 11.08 TFAP2A SIX6 PAX6 MKS1

GO Terms for Pathologic Nystagmus

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

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.7 TMEM67 SETX RHO MKS1 KIF7 FRMD7
2 melanosome GO:0042470 9.61 TYR MYO5A GPR143
3 photoreceptor outer segment GO:0001750 9.5 RHO MYO5A CNGB3
4 ciliary membrane GO:0060170 9.43 TMEM67 RHO CASK
5 photoreceptor outer segment membrane GO:0042622 9.4 RHO GNB1
6 melanosome membrane GO:0033162 9.37 TYR GPR143
7 ciliary transition zone GO:0035869 9.13 TMEM67 MKS1 CEP290
8 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 9.23 TYR SIX6 RHO PAX6 MYO5A GPR143
8 melanosome localization GO:0032400 9.16 MYO5A GPR143
9 eye pigment biosynthetic process GO:0006726 8.96 TYR GPR143

Sources for Pathologic Nystagmus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HMDB
31 HPO
32 ICD10
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50 NDF-RT
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61 PubMed
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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