MCID: PTH003
MIFTS: 43

Pathologic Nystagmus

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Pathologic Nystagmus

MalaCards integrated aliases for Pathologic Nystagmus:

Name: Pathologic Nystagmus 12 15
Nystagmus 73

Classifications:



External Ids:

Disease Ontology 12 DOID:9650
ICD10 33 H55.0 H55.00
ICD9CM 35 379.50
MeSH 44 D009759
NCIt 50 C3282
SNOMED-CT 68 563001
UMLS 73 C0028738

Summaries for Pathologic Nystagmus

MalaCards based summary : Pathologic Nystagmus, also known as nystagmus, is related to congenital nystagmus and meckel syndrome, type 4, and has symptoms including ophthalmoplegia, neurologic symptoms and deficiencies of smooth pursuit movements. An important gene associated with Pathologic Nystagmus is CNGB3 (Cyclic Nucleotide Gated Channel Beta 3), and among its related pathways/superpathways are Neuroscience and Phototransduction. The drugs gamma-Aminobutyric acid and Gabapentin 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 : 76 Nystagmus is a condition of involuntary (or voluntary, in rare 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 34)
# Related Disease Score Top Affiliating Genes
1 congenital nystagmus 31.5 CASK FRMD7 GPR143 PAX6 SLC38A8 TUBB3
2 meckel syndrome, type 4 10.3 CEP290 MKS1
3 oligocone trichromacy 10.3 CNGA3 CNGB3
4 achromatopsia 4 10.3 CNGA3 CNGB3
5 joubert syndrome 6 10.3 CEP290 MKS1 TMEM67
6 x-linked infantile nystagmus 10.3 FRMD7 GPR143
7 encephalocele 10.3 CEP290 MKS1 TMEM67
8 meckel syndrome, type 3 10.3 CEP290 MKS1 TMEM67
9 isolated foveal hypoplasia 10.3 PAX6 SLC38A8
10 meckel syndrome, type 2 10.3 MKS1 TMEM67
11 bardet-biedl syndrome 13 10.3 CEP290 MKS1 TMEM67
12 senior-loken syndrome 1 10.3 CEP290 MKS1 TMEM67
13 jalili syndrome 10.3 CNGA3 CNGB3
14 blue cone monochromacy 10.3 CNGA3 CNGB3 RHO
15 coloboma of iris 10.2 PAX6 TFAP2A TMEM67
16 hereditary retinal dystrophy 10.2 CEP290 RHO
17 visual epilepsy 10.2 GALC GNB1 MYO5A
18 achromatopsia 2 10.2 CNGA3 CNGB3
19 meckel syndrome, type 1 10.2 CEP290 MKS1 TMEM67
20 color blindness 10.2 CNGA3 CNGB3 SLC38A8
21 amblyopia 10.2 GALC TFAP2A TUBB3
22 retinal disease 10.2 CEP290 CNGB3 RHO
23 ocular motility disease 10.2 FRMD7 GPR143 TUBB3
24 pineocytoma 10.2 RHO TUBB3
25 choroid disease 10.2 CNGB3 RHO
26 achromatopsia 10.2 CNGA3 CNGB3 SLC38A8
27 coloboma, ocular, autosomal dominant 10.2 PAX6 TMEM67
28 coloboma of macula 10.2 CEP290 PAX6 TFAP2A TMEM67
29 fundus dystrophy 10.2 CEP290 CNGA3 CNGB3 RHO
30 cone-rod dystrophy 8 10.2 CNGA3 CNGB3
31 retinitis pigmentosa 44 10.1 CNGA3 CNGB3
32 leber congenital amaurosis 10.1 CEP290 CNGA3 CNGB3 RHO SLC38A8
33 strabismus 10.1 FRMD7 GALC GNB1 GPR143 TUBB3 TYR
34 colorblindness, partial, protan series 10.1 CNGB3 RHO

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 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.31 CASK CEP290 CNGB3 GALC GNB1 MKS1
2 nervous system MP:0003631 10.22 CASK CEP290 CNGA3 CNGB3 GALC GNB1
3 behavior/neurological MP:0005386 10.21 CASK CEP290 CNGA3 GALC GNB1 MYO5A
4 mortality/aging MP:0010768 10.18 CASK CEP290 GALC GNB1 MKS1 MYO5A
5 craniofacial MP:0005382 10.13 CASK CEP290 GALC MKS1 MYO5A PAX6
6 immune system MP:0005387 10.13 CEP290 GALC MKS1 MYO5A PAX6 RHO
7 limbs/digits/tail MP:0005371 9.95 CASK GALC MKS1 MYO5A TFAP2A TMEM67
8 hearing/vestibular/ear MP:0005377 9.93 MKS1 MYO5A PAX6 RDX TFAP2A TYR
9 pigmentation MP:0001186 9.8 CEP290 GPR143 MYO5A PAX6 RHO TFAP2A
10 respiratory system MP:0005388 9.7 CASK CEP290 GNB1 MKS1 PAX6 TFAP2A
11 skeleton MP:0005390 9.61 CASK CEP290 FRMD7 GALC MKS1 PAX6
12 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
1
gamma-Aminobutyric acid Approved, Investigational Phase 4,Phase 2,Not Applicable 56-12-2 119
2
Gabapentin Approved, Investigational Phase 4,Phase 2,Not Applicable 60142-96-3 3446
3
Dopamine Approved Phase 4,Phase 2,Not Applicable 51-61-6, 62-31-7 681
4
Memantine Approved, Investigational Phase 4,Phase 2,Not Applicable 19982-08-2 4054
5
Brinzolamide Approved Phase 4 138890-62-7 68844
6
Ketamine Approved, Vet_approved Phase 4,Phase 3,Phase 1,Phase 2 6740-88-1 3821
7
Morphine Approved, Investigational Phase 4 57-27-2 5288826
8
Ondansetron Approved Phase 4 99614-02-5 4595
9
Haloperidol Approved Phase 4 52-86-8 3559
10
Meclizine Approved Phase 4 569-65-3 4034
11
Histamine Approved, Investigational Phase 4 51-45-6, 75614-87-8 774
12 Gentamicins Phase 4,Not Applicable
13 Anti-Bacterial Agents Phase 4,Not Applicable
14 Anti-Infective Agents Phase 4,Phase 1,Not Applicable
15 Anti-Anxiety Agents Phase 4,Phase 3,Phase 2,Not Applicable
16 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
17 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Not Applicable
18 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
19 Anticonvulsants Phase 4,Phase 3,Phase 2,Not Applicable
20 calcium channel blockers Phase 4,Phase 3,Phase 2,Not Applicable
21 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
22 Antimanic Agents Phase 4,Phase 2,Not Applicable
23 Calcium, Dietary Phase 4,Phase 3,Phase 2,Not Applicable
24 Analgesics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
25 Excitatory Amino Acid Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
26 Antiparkinson Agents Phase 4,Phase 2,Not Applicable
27 Tranquilizing Agents Phase 4,Phase 3,Phase 2,Not Applicable
28 GABA Agents Phase 4,Phase 2,Not Applicable
29 Excitatory Amino Acids Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
30 Pharmaceutical Solutions Phase 4,Phase 1,Phase 2
31 Anesthetics Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
32 Autonomic Agents Phase 4,Not Applicable
33 Gastrointestinal Agents Phase 4,Not Applicable
34 Serotonin Antagonists Phase 4,Not Applicable
35 Antiemetics Phase 4,Not Applicable
36 Serotonin Agents Phase 4,Not Applicable
37 Dopamine Agents Phase 4,Phase 2,Not Applicable
38 Ophthalmic Solutions Phase 4
39 Carbonic Anhydrase Inhibitors Phase 4
40 Anesthetics, Dissociative Phase 4,Phase 3,Phase 1,Phase 2
41 Narcotics Phase 4
42 Analgesics, Opioid Phase 4
43 Anesthetics, General Phase 4,Phase 3,Phase 1,Phase 2
44 Anesthetics, Intravenous Phase 4,Phase 3,Phase 1,Phase 2
45 Dopamine Antagonists Phase 4
46 Haloperidol decanoate Phase 4
47 decanoic acid Phase 4
48 Antipsychotic Agents Phase 4
49 Antipruritics Phase 4
50 Dermatologic Agents Phase 4,Early Phase 1

Interventional clinical trials:

(show top 50) (show all 89)
# Name Status NCT ID Phase Drugs
1 Gentamicin Treatment Prior to Schwannoma Surgery - Residual Function Unknown status NCT02379754 Phase 4 Gentamicins
2 Treatment of Pendular Nystagmus in OPT Completed NCT02466191 Phase 4 Memantine;Gabapentin
3 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
4 Low-dose Ketamine vs Morphine for Vaso-occlusive Crisis in Sicklers Completed NCT02434939 Phase 4 Low dose ketamine;Morphine
5 Intravenous Haloperidol Versus Ondansetron for Treatment of Established Post-operative Nausea and Vomiting Completed NCT02143531 Phase 4 4 mg of Ondansetron IV;1mg of Haloperidol IV
6 Motion Sickness Medications and Vestibular Time Constant Recruiting NCT03270839 Phase 4 Bonine 25Mg Chewable Tablet;Kwells;Placebo Oral Tablet
7 Gentamicin Treatment Prior to Schwannoma Surgery - No Residual Function Recruiting NCT02415257 Phase 4 Gentamicin
8 Treatment of Geotropic Horizontal Canal Benign Paroxysmal Positional Vertigo Completed NCT01366430 Phase 3
9 The Treatment of Posterior Semicircular Canal Benign Paroxysmal Positional Vertigo Completed NCT02029508 Phase 3
10 Treatment of Apogeotropic Horizontal Canal Benign Paroxysmal Positional Vertigo Completed NCT00810641 Phase 3
11 Efficacy of Ketamine Added to Local Anesthetic in Modified Pectoral Block for Management of Postoperative Pain Completed NCT02620371 Phase 3
12 Open-Label Extension Study Of Safety And Tolerability Of Pregabalin In Pediatric Patients With Partial-Onset Seizures Completed NCT00448916 Phase 3 Pregabalin
13 A Safety, Efficacy, and Tolerability Trial of Pregabalin as Add-On Treatment in Pediatric Subjects <4 Years of Age With Partial Onset Seizures. Completed NCT02072824 Phase 3 Pregabalin Dose Level 1;Pregabalin Dose Level 2;Placebo
14 Bupivacaine Injection of Eye Muscles to Treat Strabismus Recruiting NCT01616108 Phase 2, Phase 3 Bupivacaine
15 Efficacy of SENS-111 in Patients Suffering From Acute Unilateral Vestibulopathy Recruiting NCT03110458 Phase 2, Phase 3 SENS-111 100mg;SENS-111 200mg;Placebo Oral Tablet
16 Repeated Dose IV Baclofen Safety/Bioequivalence Study Unknown status NCT02760992 Phase 1, Phase 2 IV Baclofen;Oral Baclofen
17 4-Aminopyridine in Episodic Ataxia Type 2 Unknown status NCT01543750 Phase 2 4-Aminopyridine;Placebo
18 Efficacy and Safety Study of Neramexane to Treat Congenital and Acquired Nystagmus Completed NCT00661440 Phase 2 Neramexane mesylate
19 Eye Muscle Surgery to Treat Congenital Nystagmus Completed NCT00001866 Phase 2
20 Treatment of Pendular Nystagmus With Gabapentin and Memantine in Patients With Multiple Sclerosis Completed NCT01744444 Phase 2 Memantine;Gabapentin
21 Treatment of Apogeotropic Horizontal Canal Benign Paroxysmal Positional Vertigo Completed NCT02046980 Phase 2
22 Prednisone Treatment for Vestibular Neuronitis Completed NCT00271791 Phase 2 Prednisone;Prednisone
23 Ketamine as Adjunctive Analgesic With Bupivacaine in Paravertebral Analgesia for Breast Cancer Surgery Completed NCT02462681 Phase 1, Phase 2 paravertebral block
24 Long-Term Safety of Pharmaceutical Grade Synthetic Cannabidiol Oral Solution in Pediatric Participants With Treatment-Resistant Childhood Absence Seizures Recruiting NCT03355300 Phase 2 Cannabidiol Oral Solution
25 Efficacy and Safety Trial of Sodium Valproate, in Paediatric and Adult Patients With Wolfram Syndrome Recruiting NCT03717909 Phase 2 Sodium Valproate 200Mg E/C Tablet;Sodium Valproate matched placebo
26 Open-lable Extension Study on Safety and Efficacy of Neramexane to Treat Congenital and Acquired Nystagmus Terminated NCT00799942 Phase 2 Neramexane mesylate
27 Phase 2 Extension Trial in Patients With Relapsing-Remitting Multiple Sclerosis (RRMS) Terminated NCT01226745 Phase 2 ONO-4641;ONO-4641;ONO-4641;ONO-4641;ONO-4641;ONO-4641
28 A Study To Evaluate The Safety And Efficacy Of PF-04958242 In Subjects With Cognitive Impairment Associated With Schizophrenia (CIAS) Terminated NCT02855411 Phase 2 PF-04958242;placebo
29 A Study of 2-Iminobiotin in Neonates With Perinatal Asphyxia Terminated NCT01626924 Phase 2 2-Iminobiotin
30 Dose Escalation Study of Intravenous Baclofen in Healthy Adult Volunteers Completed NCT01931319 Phase 1 Intravenous baclofen
31 Oral and IV Baclofen in Adult Volunteers Completed NCT01749319 Phase 1 Oral baclofen;Intervenous baclofen
32 A Study To Examine The Safety, Tolerability And Pharmacokinetics Of PF-02545920 In Psychiatrically Stable Subjects With Schizophrenia Completed NCT01829048 Phase 1 PF-02545920;PF-02545920;PF-02545920;Placebo
33 Multiple Ascending Doses of PF-04958242 in Subjects With Stable Schizophrenia Completed NCT02332798 Phase 1 PF-04958242;Placebo;PF-04958242;Placebo
34 Study To Evaluate The Safety, Tolerability And Pharmacokinetics Of Single Doses Of PF-04958242 In Healthy Volunteers Completed NCT02228395 Phase 1 PF-04958242;Placebo
35 A Study to Evaluate the Effect of Itraconazole on the Pharmacokinetics of PF-04958242 in Healthy Subjects Completed NCT02341482 Phase 1 PF-04958242;Itraconazole
36 A Blinded, Four-Way Crossover in Healthy Subjects to Assess EEG After Administration of Ketamine, Placebo and AZD6765 Terminated NCT01130909 Phase 1 AZD6765;AZD6765;Ketamine;Placebo
37 Treatment of Posterior Canal Type of Benign Paroxysmal Positional Vertigo Unknown status NCT01822002 Not Applicable
38 Study of the Effectiveness of Vestibular Stimulation Treatment in the Depressive Phase of Bipolar Disorder Unknown status NCT02778256 Not Applicable
39 The Role of Corticosteroids and Vestibular Exercises in Recovery of Vestibular Neuritis Unknown status NCT01231009 Early Phase 1 Corticosteroids
40 The Effects of Gabapentin and Ramosetron on Postoperative Nausea and Vomiting in Laparoscopic Gynecological Surgery Unknown status NCT02617121 Not Applicable Gabapentin;Ramosetron;Gabapentin and Ramosetron
41 Cross-over Comparison of Gabapentin and Memantine as Treatment for Acquired Nystagmus Completed NCT00928954 Not Applicable gabapentin;memantine
42 Screening for Studies on Nystagmus and Strabismus Completed NCT00001861
43 Helpfulness of the Vibration Test Performed in Room Light on Clients With Inner Ear Problems Completed NCT02626052
44 Role of Psychiatric Profile in Prehabituated Patients After Vestibular Schwannoma Surgery Completed NCT03638310 Not Applicable
45 Clinical Aspects of Patients With Benign Paroxysmal Positional Vertigo (BPPV) and Migraine Completed NCT02615314
46 Functional Link Between Hippocampal and Vestibular Systems: a Pilot Study in Epilepsy Surgery Completed NCT01285921 Not Applicable
47 Effect of Vestibular Rehabilitation - a Randomized Controlled Trial Completed NCT00702832 Not Applicable
48 Quantification of Prosthesis Penetration With Conebeam in Otosclerosis Completed NCT02901093
49 Vestibular Evoked Myogenic Potentials in Benign Paroxysmal Positional Vertigo (VEMP in BPPV) Completed NCT01004913
50 Vertigo Perception and Quality of Life in Patients After Surgical Treatment of Vestibular Schwannoma Completed NCT02963896 Not Applicable gentamicin

Search NIH Clinical Center for Pathologic Nystagmus

Genetic Tests for Pathologic Nystagmus

Anatomical Context for Pathologic Nystagmus

MalaCards organs/tissues related to Pathologic Nystagmus:

41
Eye, Testes, Brain, Pituitary, Prostate, Skin, Spinal Cord

Publications for Pathologic Nystagmus

Articles related to Pathologic Nystagmus:

(show top 50) (show all 794)
# Title Authors Year
1
Electroretinograms in idiopathic infantile nystagmus, optic nerve hypoplasia and albinism. ( 30541351 )
2018
2
A Novel Dichoptic Optokinetic Nystagmus Paradigm to Quantify Interocular Suppression in Monocular Amblyopia. ( 30304459 )
2018
3
Familial congenital cataract, coloboma, and nystagmus phenotype with variable expression caused by mutation in PAX6 in a South African family. ( 29930474 )
2018
4
Pearls & Oy-sters: Windmill nystagmus in paraneoplastic cerebellar degeneration. ( 30397048 )
2018
5
Case of congenital nystagmus. ( 30242942 )
2018
6
Conversion of upbeat to downbeat nystagmus in Wernicke encephalopathy. ( 30348852 )
2018
7
Optical Rehabilitation of a Patient with Keratoconus and Nystagmus. ( 30505870 )
2018
8
The structure of mammalian β-mannosidase provides insight into β-mannosidosis and Nystagmus. ( 30552791 )
2018
9
Direction-Changing and Direction-Fixed Positional Nystagmus in Patients With Vestibular Neuritis and Meniere Disease. ( 30509014 )
2018
10
Finger Extension Weakness and Downbeat Nystagmus Motor Neuron Disease Syndrome: A Series of Two Cases. ( 30383572 )
2018
11
Patterns of nystagmus conversion in sudden sensorineural hearing loss with vertigo. ( 30412127 )
2018
12
Nystagmus Findings and Hearing Recovery in Idiopathic Sudden Sensorineural Hearing Loss Without Dizziness. ( 30252801 )
2018
13
Horizontal Direction-Changing Positional Nystagmus and Vertigo: A Case of Vestibular Migraine Masquerading as Horizontal Canal BPPV. ( 30152162 )
2018
14
Direction-fixed and Direction-changing Positional Nystagmus in Ramsay Hunt Syndrome. ( 29342047 )
2018
15
Incidence and Clinical Significance of Positional Downbeat Nystagmus in Posterior Canal Benign Paroxysmal Positional Vertigo. ( 29856161 )
2018
16
Recovery of positional nystagmus after benign paroxysmal positional vertigo fatigue. ( 30324405 )
2018
17
A triad of infantile spasms, nystagmus and a focal tonic seizure. ( 30063026 )
2018
18
High-resolution MRI of the inner ear enables syndrome differentiation and specific treatment of cerebellar downbeat nystagmus and secondary endolymphatic hydrops in a postoperative ELST patient. ( 29644399 )
2018
19
Acute-Onset Vertical Nystagmus and Limb Tremors in Chronic Renal Failure. ( 30470413 )
2018
20
Case series: Pyramidal cataracts, intact irides and nystagmus from three novel PAX6 mutations. ( 29780932 )
2018
21
Surgical Management of Nystagmus. ( 30231177 )
2018
22
Pediatric Nystagmus. ( 30239363 )
2018
23
The effective clinical outcomes of the Gufoni maneuver used to treat 91 vertigo patients with apogeotropic direction-changing positional nystagmus (apo-DCPN). ( 30278514 )
2018
24
Dealing with Nystagmus. ( 30322349 )
2018
25
Visual functioning in adults with Idiopathic Infantile Nystagmus Syndrome (IINS). ( 30325248 )
2018
26
Longitudinal Studies and Eye-Movement-Based Treatments of Infantile Nystagmus Syndrome: Estimated and Measured Therapeutic Improvements in Three Complex Cases. ( 30332339 )
2018
27
Usefulness of galvanically induced nystagmus as a diagnostic test of peripheral vestibular hypofunction. ( 30347633 )
2018
28
Supranuclear eye movements and nystagmus in children: A review of the literature and guide to clinical examination, interpretation of findings and age-appropriate norms. ( 30353137 )
2018
29
Comment on: Unique case of midbrain tuberculoma presenting as isolated inferior rectus palsy with nystagmus. ( 30355905 )
2018
30
Mouse Magnetic-field Nystagmus in Strong Static Magnetic Fields Is Dependent on the Presence of Nox3. ( 30444848 )
2018
31
Nystagmus And Beyond: A Rare Ocular Motility Disorder. ( 30465390 )
2018
32
Recovery Phase Spontaneous Nystagmus, Its Existence and Clinical Implication. ( 30518197 )
2018
33
Vestibular atelectasis: Decoding pressure and sound-induced nystagmus with bilateral vestibulopathy. ( 30548864 )
2018
34
The effects of topical carbonic anhydrase inhibitor in treatment of nystagmus. ( 28204987 )
2018
35
Disabling Central Paroxysmal Positioning Upbeat Nystagmus and Vertigo Associated With the Presence of Anti-Glutamic Acid Decarboxylase Antibodies. ( 28767521 )
2018
36
The direction of nystagmus: Letter to the Editor regarding the manuscript "Downbeat nystagmus due to ranitidine in a pediatric patient." by Butragueño Laiseca et al. Eur J Paediatr Neurol. 2017 Jul;21(4):682-684. ( 28964671 )
2018
37
Visual Acuity Improves in Children and Adolescents With Idiopathic Infantile Nystagmus. ( 28971630 )
2018
38
Nystagmus due to ranitidine. ( 29032893 )
2018
39
Nystagmus. ( 29120919 )
2018
40
Pendular Seesaw Nystagmus in a Patient With a Giant Pituitary Macroadenoma: Pathophysiology and the Role of the Accessory Optic System. ( 29135813 )
2018
41
Upbeat nystagmus is a useful sign in the regional diagnosis of trigeminal nerve disorder with multiple sclerosis. ( 29136526 )
2018
42
Development and surgical removal of an epiretinal membrane in infantile nystagmus syndrome: a new type of oscillopsia. ( 29210008 )
2018
43
Superior canal dehiscence syndrome : Diagnosis with vestibular evoked myogenic potentials and fremitus nystagmus. ( 29242950 )
2018
44
Does eye velocity due to infantile nystagmus deprive visual acuity development? ( 29288837 )
2018
45
Intermittent upbeat nystagmus in infancy and antihistamine medications. ( 29289526 )
2018
46
Soft Contact Lenses to Optimize Vision in Adults with Idiopathic Infantile Nystagmus: A Pilot Parallel Randomized Controlled Trial. ( 29333910 )
2018
47
Bruns nystagmus: an important clinical clue for cerebellopontine angle tumours. ( 29348291 )
2018
48
An attempt to measure the diametric relationship between slow and quick phases of nystagmus. ( 29355067 )
2018
49
Nystagmus and Platinum Hair. ( 29362773 )
2018
50
Characteristics and mechanism of apogeotropic central positional nystagmus. ( 29373699 )
2018

Variations for Pathologic Nystagmus

ClinVar genetic disease variations for Pathologic Nystagmus:

6 (show top 50) (show all 67)
# Gene Variation Type Significance SNP ID Assembly Location
1 CEP290 NM_025114.3(CEP290): c.4723A> T (p.Lys1575Ter) single nucleotide variant Pathogenic rs137852834 GRCh37 Chromosome 12, 88477713: 88477713
2 CEP290 NM_025114.3(CEP290): c.4723A> T (p.Lys1575Ter) single nucleotide variant Pathogenic rs137852834 GRCh38 Chromosome 12, 88083936: 88083936
3 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh37 Chromosome 8, 94808198: 94808198
4 TMEM67 NM_153704.5(TMEM67): c.1843T> C (p.Cys615Arg) single nucleotide variant Pathogenic/Likely pathogenic rs201893408 GRCh38 Chromosome 8, 93795970: 93795970
5 MKS1 NM_017777.3(MKS1): c.1476T> G (p.Cys492Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137853105 GRCh37 Chromosome 17, 56283840: 56283840
6 MKS1 NM_017777.3(MKS1): c.1476T> G (p.Cys492Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs137853105 GRCh38 Chromosome 17, 58206479: 58206479
7 TYR NM_000372.4(TYR): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs28940881 GRCh37 Chromosome 11, 88911122: 88911122
8 TYR NM_000372.4(TYR): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs28940881 GRCh38 Chromosome 11, 89177954: 89177954
9 TYR NM_000372.4(TYR): c.1037-7T> A single nucleotide variant Pathogenic/Likely pathogenic rs61754381 GRCh37 Chromosome 11, 88960984: 88960984
10 TYR NM_000372.4(TYR): c.1037-7T> A single nucleotide variant Pathogenic/Likely pathogenic rs61754381 GRCh38 Chromosome 11, 89227816: 89227816
11 COQ8A NM_020247.4(COQ8A): c.1744dupA (p.Ser582Lysfs) duplication Likely pathogenic rs730882239 GRCh38 Chromosome 1, 226986537: 226986537
12 COQ8A NM_020247.4(COQ8A): c.1744dupA (p.Ser582Lysfs) duplication Likely pathogenic rs730882239 GRCh37 Chromosome 1, 227174238: 227174238
13 SETX NM_015046.6(SETX): c.5222dup (p.Asp1742Argfs) duplication Pathogenic rs730882209 GRCh38 Chromosome 9, 132326376: 132326376
14 SETX NM_015046.6(SETX): c.5222dup (p.Asp1742Argfs) duplication Pathogenic rs730882209 GRCh37 Chromosome 9, 135201763: 135201763
15 GNB1 NM_002074.4(GNB1): c.239T> C (p.Ile80Thr) single nucleotide variant Pathogenic rs752746786 GRCh37 Chromosome 1, 1737942: 1737942
16 GNB1 NM_002074.4(GNB1): c.239T> C (p.Ile80Thr) single nucleotide variant Pathogenic rs752746786 GRCh38 Chromosome 1, 1806503: 1806503
17 TMEM67 NM_153704.5(TMEM67): c.1321C> T (p.Arg441Cys) single nucleotide variant Pathogenic/Likely pathogenic rs752362727 GRCh38 Chromosome 8, 93786255: 93786255
18 TMEM67 NM_153704.5(TMEM67): c.1321C> T (p.Arg441Cys) single nucleotide variant Pathogenic/Likely pathogenic rs752362727 GRCh37 Chromosome 8, 94798483: 94798483
19 GNB1 NM_002074.4(GNB1): c.284T> C (p.Leu95Pro) single nucleotide variant Pathogenic rs869312824 GRCh37 Chromosome 1, 1736004: 1736004
20 GNB1 NM_002074.4(GNB1): c.284T> C (p.Leu95Pro) single nucleotide variant Pathogenic rs869312824 GRCh38 Chromosome 1, 1804565: 1804565
21 RUBCN NM_014687.3(RUBCN): c.1642A> G (p.Thr548Ala) single nucleotide variant Pathogenic rs767982852 GRCh37 Chromosome 3, 197421288: 197421288
22 RUBCN NM_014687.3(RUBCN): c.1642A> G (p.Thr548Ala) single nucleotide variant Pathogenic rs767982852 GRCh38 Chromosome 3, 197694417: 197694417
23 RUBCN NM_014687.3(RUBCN): c.319G> A (p.Glu107Lys) single nucleotide variant Pathogenic rs1114167292 GRCh37 Chromosome 3, 197431557: 197431557
24 RUBCN NM_014687.3(RUBCN): c.319G> A (p.Glu107Lys) single nucleotide variant Pathogenic rs1114167292 GRCh38 Chromosome 3, 197704686: 197704686
25 MYO5A NM_000259.3(MYO5A): c.4200C> G (p.Ser1400Arg) single nucleotide variant Pathogenic rs1114167290 GRCh37 Chromosome 15, 52632432: 52632432
26 MYO5A NM_000259.3(MYO5A): c.4200C> G (p.Ser1400Arg) single nucleotide variant Pathogenic rs1114167290 GRCh38 Chromosome 15, 52340235: 52340235
27 CASK NM_003688.3(CASK): c.2506-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs398122845 GRCh37 Chromosome X, 41383289: 41383289
28 CASK NM_003688.3(CASK): c.2506-2A> G single nucleotide variant Pathogenic/Likely pathogenic rs398122845 GRCh38 Chromosome X, 41524036: 41524036
29 GUCY2D NM_000180.3(GUCY2D): c.129_134delTCTGCT (p.Leu44_Leu45del) deletion Conflicting interpretations of pathogenicity rs552184470 GRCh37 Chromosome 17, 7906494: 7906499
30 GUCY2D NM_000180.3(GUCY2D): c.129_134delTCTGCT (p.Leu44_Leu45del) deletion Conflicting interpretations of pathogenicity rs552184470 GRCh38 Chromosome 17, 8003176: 8003181
31 CNGB3 NM_019098.4(CNGB3): c.819_826delCAGACTCC (p.Arg274Valfs) deletion Pathogenic rs775796581 GRCh38 Chromosome 8, 86666951: 86666958
32 CNGB3 NM_019098.4(CNGB3): c.819_826delCAGACTCC (p.Arg274Valfs) deletion Pathogenic rs775796581 GRCh37 Chromosome 8, 87679179: 87679186
33 CEP290 NM_025114.3(CEP290): c.2941C> T (p.Gln981Ter) single nucleotide variant Pathogenic rs1057518822 GRCh38 Chromosome 12, 88102888: 88102888
34 CEP290 NM_025114.3(CEP290): c.2941C> T (p.Gln981Ter) single nucleotide variant Pathogenic rs1057518822 GRCh37 Chromosome 12, 88496665: 88496665
35 GALC NM_000153.3(GALC): c.850G> A (p.Gly284Ser) single nucleotide variant Pathogenic/Likely pathogenic rs377274761 GRCh38 Chromosome 14, 87968393: 87968393
36 GALC NM_000153.3(GALC): c.850G> A (p.Gly284Ser) single nucleotide variant Pathogenic/Likely pathogenic rs377274761 GRCh37 Chromosome 14, 88434737: 88434737
37 GALC NM_000153.3(GALC): c.196G> A (p.Ala66Thr) single nucleotide variant Likely pathogenic rs1057518843 GRCh38 Chromosome 14, 87988523: 87988523
38 GALC NM_000153.3(GALC): c.196G> A (p.Ala66Thr) single nucleotide variant Likely pathogenic rs1057518843 GRCh37 Chromosome 14, 88454867: 88454867
39 KIF7 NM_198525.2(KIF7): c.434A> C (p.Tyr145Ser) single nucleotide variant Likely pathogenic rs758361736 GRCh37 Chromosome 15, 90193067: 90193067
40 KIF7 NM_198525.2(KIF7): c.434A> C (p.Tyr145Ser) single nucleotide variant Likely pathogenic rs758361736 GRCh38 Chromosome 15, 89649836: 89649836
41 GUCY2D NM_000180.3(GUCY2D): c.1315G> A (p.Gly439Arg) single nucleotide variant Uncertain significance rs140638938 GRCh38 Chromosome 17, 8006651: 8006651
42 GUCY2D NM_000180.3(GUCY2D): c.1315G> A (p.Gly439Arg) single nucleotide variant Uncertain significance rs140638938 GRCh37 Chromosome 17, 7909969: 7909969
43 COL18A1 NM_030582.3(COL18A1): c.1469-2A> G single nucleotide variant Likely pathogenic rs765919785 GRCh38 Chromosome 21, 45477409: 45477409
44 COL18A1 NM_030582.3(COL18A1): c.1469-2A> G single nucleotide variant Likely pathogenic rs765919785 GRCh37 Chromosome 21, 46897323: 46897323
45 COL18A1 NM_030582.3(COL18A1): c.3979C> T (p.Arg1327Ter) single nucleotide variant Likely pathogenic rs1057518802 GRCh38 Chromosome 21, 45509554: 45509554
46 COL18A1 NM_030582.3(COL18A1): c.3979C> T (p.Arg1327Ter) single nucleotide variant Likely pathogenic rs1057518802 GRCh37 Chromosome 21, 46929468: 46929468
47 NDP NM_000266.3(NDP): c.314C> T (p.Ala105Val) single nucleotide variant Likely pathogenic rs1057518836 GRCh38 Chromosome X, 43949887: 43949887
48 NDP NM_000266.3(NDP): c.314C> T (p.Ala105Val) single nucleotide variant Likely pathogenic rs1057518836 GRCh37 Chromosome X, 43809133: 43809133
49 OPHN1 NM_002547.2(OPHN1): c.746T> C (p.Leu249Pro) single nucleotide variant Likely pathogenic rs1057518963 GRCh37 Chromosome X, 67430081: 67430081
50 OPHN1 NM_002547.2(OPHN1): c.746T> C (p.Leu249Pro) single nucleotide variant Likely pathogenic rs1057518963 GRCh38 Chromosome X, 68210239: 68210239

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 CEP290 FRMD7 MKS1 RDX RHO SETX
2 lysosome GO:0005764 9.77 GALC GPR143 MYO5A RUBCN TYR
3 growth cone GO:0030426 9.67 FRMD7 MYO5A SETX
4 melanosome GO:0042470 9.65 GPR143 MYO5A TYR
5 ciliary membrane GO:0060170 9.58 CASK RHO TMEM67
6 photoreceptor disc membrane GO:0097381 9.51 GNB1 RHO
7 photoreceptor outer segment membrane GO:0042622 9.46 GNB1 RHO
8 melanosome membrane GO:0033162 9.43 GPR143 TYR
9 ciliary transition zone GO:0035869 9.33 CEP290 MKS1 TMEM67
10 transmembrane transporter complex GO:1902495 9.26 CNGA3 CNGB3
11 photoreceptor outer segment GO:0001750 9.26 CNGB3 GNB1 MYO5A RHO
12 MKS complex GO:0036038 8.8 CEP290 MKS1 TMEM67

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 CEP290 MKS1 TMEM67
2 melanosome transport GO:0032402 9.46 GPR143 MYO5A
3 eye photoreceptor cell development GO:0042462 9.43 CEP290 PAX6
4 retina development in camera-type eye GO:0060041 9.43 GNB1 PAX6 RHO
5 melanin biosynthetic process GO:0042438 9.37 MYO5A TYR
6 rhodopsin mediated signaling pathway GO:0016056 9.32 GNB1 RHO
7 visual perception GO:0007601 9.17 CNGA3 CNGB3 GPR143 MYO5A PAX6 RHO
8 melanosome localization GO:0032400 9.16 GPR143 MYO5A
9 eye pigment biosynthetic process GO:0006726 8.96 GPR143 TYR

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 CNGA3 CNGB3
2 intracellular cAMP-activated cation channel activity GO:0005222 8.96 CNGA3 CNGB3
3 intracellular cGMP-activated cation channel activity GO:0005223 8.62 CNGA3 CNGB3

Sources for Pathologic Nystagmus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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