MCID: PTH003
MIFTS: 47

Pathologic Nystagmus

Categories: Eye diseases, Neuronal diseases
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Aliases & Classifications for Pathologic Nystagmus

MalaCards integrated aliases for Pathologic Nystagmus:

Name: Pathologic Nystagmus 11 14
Nystagmus 71 75 33

Classifications:



External Ids:

Disease Ontology 11 DOID:9650
ICD9CM 34 379.50
MeSH 43 D009759
NCIt 49 C3282
SNOMED-CT 68 194171007
UMLS 71 C0028738

Summaries for Pathologic Nystagmus

MalaCards based summary: Pathologic Nystagmus, also known as nystagmus, is related to nystagmus 7, congenital, autosomal dominant and nystagmus 3, congenital, autosomal dominant, and has symptoms including ophthalmoplegia, neurologic symptoms and deficiencies of smooth pursuit movements. An important gene associated with Pathologic Nystagmus is FRMD7 (FERM Domain Containing 7), and among its related pathways/superpathways are Visual Cycle in Retinal Rods and Visual signal transduction: Cones. The drugs Memantine and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and medulla oblongata, and related phenotypes are vision/eye and pigmentation

Wikipedia: 75 Nystagmus is a condition of involuntary (or voluntary, in some cases) eye movement. Infants can be born... 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 1007)
# Related Disease Score Top Affiliating Genes
1 nystagmus 7, congenital, autosomal dominant 32.7 GPR143 FRMD7
2 nystagmus 3, congenital, autosomal dominant 32.6 PAX6 GPR143 FRMD7 FARP1
3 nystagmus 6, congenital, x-linked 32.3 SLC38A8 OPN1LW GPR143 FRMD7
4 aland island eye disease 31.7 LRMDA GPR143 CACNA1F
5 aniridia 1 31.7 SLC38A8 PAX6 GPR143 FRMD7 CRYAA
6 albinism, oculocutaneous, type ib 31.6 OCA2 LRMDA GPR143
7 ocular motility disease 31.6 SLC38A8 PAX6 GPR143 FRMD7 CRYAA
8 albinism 31.5 OCA2 LRMDA HPS3 GPR143
9 retinal cone dystrophy 3b 31.4 PDE6C CNGB3
10 night blindness, congenital stationary, type 2a 31.4 CRYAA CACNA1F
11 strabismus 31.3 PAX6 GPR143 FRMD7 CRYAA
12 night blindness, congenital stationary, type 1c 31.3 SLC38A8 CACNA1F
13 retinoschisis 1, x-linked, juvenile 31.2 GNAT2 CNGB3 CNGA3 CACNA1F
14 esotropia 31.2 PAX6 FRMD7 CRYAA
15 hermansky-pudlak syndrome 6 31.1 HPS6 HPS5
16 achromatopsia 4 31.1 PDE6C GNAT2 CNGB3 CNGA3
17 achromatopsia 3 31.1 PDE6C GNAT2 CNGB3 CNGA3 CACNA1F
18 achromatopsia 2 31.1 PDE6C GNAT2 CNGB3 CNGA3
19 achromatopsia 7 31.1 PDE6C GNAT2 CNGB3 CNGA3
20 hermansky-pudlak syndrome 3 31.1 HPS6 HPS5 HPS3
21 albinism, oculocutaneous, type ii 30.9 SLC38A8 OCA2 LRMDA HPS6 HPS5 HPS3
22 amblyopia 30.9 PAX6 FRMD7 CRYAA CACNA1F
23 progressive cone dystrophy 30.8 PDE6C GNAT2 CNGB3 CNGA3 CACNA1F
24 oculocutaneous albinism 30.8 OCA2 LRMDA HPS6 HPS5 HPS3 BLOC1S3
25 chediak-higashi syndrome 30.8 HPS6 HPS5 HPS3 BLOC1S3
26 blue cone monochromacy 30.7 PDE6C OPN1LW GNAT2 CNGB3 CNGA3 CACNA1F
27 astigmatism 30.6 GPR143 FRMD7 CRYAA CACNA1F
28 exotropia 30.6 PAX6 HPS6 HPS3 GPR143 FRMD7 CRYAA
29 albinism, oculocutaneous, type iv 30.5 OCA2 LRMDA HPS6 HPS5 HPS3 GPR143
30 albinism, oculocutaneous, type iii 30.4 OCA2 LRMDA HPS6 HPS5 HPS3 GPR143
31 refractive error 30.4 PAX6 OPN1LW CRYAA CACNA1F
32 congenital stationary night blindness 30.2 PDE6C OPN1LW GNAT2 FRMD7 CRYAA CNGB3
33 ocular albinism 30.2 SLC38A8 OCA2 LRMDA HPS6 HPS5 HPS3
34 myopia 30.2 PAX6 OPN1LW CRYAA CNGB3 CACNA1F
35 exudative vitreoretinopathy 1 30.1 SLC38A8 PAX6 CRYAA
36 cycloplegia 30.1 PDE6C GNAT2 CNGB3 CNGA3
37 hermansky-pudlak syndrome 30.0 SLC38A8 OCA2 LRMDA HPS6 HPS5 HPS3
38 anisometropia 30.0 PAX6 CRYAA
39 alternating exotropia 30.0 CNGB3 CNGA3
40 peripheral retinal degeneration 30.0 CNGB3 CNGA3
41 macular degeneration, age-related, 1 29.9 PAX6 GNAT2 CRYAA CNGB3 CNGA3
42 scotoma 29.9 PDE6C GNAT2 CNGB3 CNGA3
43 leber plus disease 29.9 SLC38A8 PDE6C PAX6 OPN1LW GPR143 GNAT2
44 achromatopsia 29.9 SLC38A8 PDE6C PAX6 OPN1LW GPR143 GNAT2
45 color blindness 29.9 SLC38A8 PDE6C OPN1LW GNAT2 FRMD7 CRYAA
46 anterior segment dysgenesis 29.8 SLC38A8 PAX6 GPR143 FRMD7 CRYAA
47 leukocoria 29.8 PAX6 CRYAA
48 cone-rod dystrophy 2 29.6 SLC38A8 PDE6C PAX6 OPN1LW GPR143 GNAT2
49 gyrate atrophy of choroid and retina 29.3 PDE6C CRYAA CNGB3 CNGA3
50 eye disease 29.3 PDE6C PAX6 GPR143 GNAT2 CRYAA CNGB3

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 vision/eye MP:0005391 9.55 BLOC1S3 CACNA1F CASK CNGA3 CNGB3 CRYAA
2 pigmentation MP:0001186 9.5 BLOC1S3 GPR143 HPS3 HPS5 HPS6 OCA2

Drugs & Therapeutics for Pathologic Nystagmus

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

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Memantine Approved, Investigational Phase 4 41100-52-1, 19982-08-2 4054
2
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
3
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
4
Brinzolamide Approved Phase 4 138890-62-7 68844
5 Neurotransmitter Agents Phase 4
6 Dopamine Agents Phase 4
7 Anti-Anxiety Agents Phase 4
8 Antiparkinson Agents Phase 4
9 Excitatory Amino Acid Antagonists Phase 4
10 Psychotropic Drugs Phase 4
11 Anticonvulsants Phase 4
12 Analgesics Phase 4
13 Carbonic Anhydrase Inhibitors Phase 4
14 Ophthalmic Solutions Phase 4
15 Pharmaceutical Solutions Phase 4
16
Methadone Approved 76-99-3, 1095-90-5 4095
17 Kava Approved, Investigational, Nutraceutical 9000-38-8
18 Analgesics, Opioid

Interventional clinical trials:

(show all 21)
# 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 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
4 Horizontal Rectus Tenotomy in the Treatment of Congenital Nystagmus Completed NCT00001866 Phase 2
5 Treatment of Pendular Nystagmus With Gabapentin and Memantine in Patients With Multiple Sclerosis Completed NCT01744444 Phase 2 Memantine;Gabapentin
6 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
7 Phase 2 Study of 4-Aminopyridine for the Treatment of Episodic Ataxia Type 2 Withdrawn NCT01543750 Phase 2 4-Aminopyridine;Placebo
8 Vision in Children Born to Opioid-dependent Methadone-maintained Mothers Unknown status NCT03603301
9 Diagnostic Accuracy of the Vibration Induced Nystagmus Test in Room Light. Completed NCT02626052
10 Clinical Application of Objective Visual Acuity Measurement Using Suppression Method to Inhibit Optokinetic Nystagmus (OKN). Completed NCT04642495
11 Screening Study for the Evaluation and Diagnosis of Potential Research Subjects With Nystagmus or Strabismus Completed NCT00001861
12 Investigation and Treatment of Ocular Motor Disorders: Cross-over Comparison of Gabapentin and Memantine as Treatment for Nystagmus Completed NCT00928954 gabapentin;memantine
13 The Effect of Vestibular Rehabilitation on Sensory Profile and Postrotary Nystagmus in Autistic Children Completed NCT03957044
14 Effects of Vestibular Rehabilitation in the Treatment of Patients With Acute Vestibular Loss. - A Randomized Controlled Trial Completed NCT00702832
15 Evaluation of Patients With Benign Paroxysmal Positional Vertigo With vHIT (Video Head Impulse Test) and VNG (Videonystagmography) Completed NCT05141734
16 Production of a Device to Obtain Continuous Ambulatory Vestibular Assessment (CAVA) - Healthy Volunteer Trial Completed NCT03661762
17 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
18 Prevalence of Positional Nystagmus in a Population of Healthy Adults Recruiting NCT05554770
19 Biofeedback in Idiopathic Infantile Nystagmus Syndrome Recruiting NCT04142307
20 Randomized Controlled Trial on Nystagmus Assessment for Patients Consulting for Acute Vertigo in the Emergency Department With/Without Frenzel Lens With/Without Form: A Pilot Study Recruiting NCT05176015
21 Normative Data for Post-rotatory Nystagmus Test at Spanish Adolescent and Adult Population: a Transversal Study Not yet recruiting NCT04788134

Search NIH Clinical Center for Pathologic Nystagmus

Genetic Tests for Pathologic Nystagmus

Anatomical Context for Pathologic Nystagmus

Organs/tissues related to Pathologic Nystagmus:

MalaCards : Eye, Brain, Medulla Oblongata, Cerebellum, Cortex, Spinal Cord, Pineal

Publications for Pathologic Nystagmus

Articles related to Pathologic Nystagmus:

(show top 50) (show all 14274)
# Title Authors PMID Year
1
Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia. 62
36339947 2023
2
Prenatal diagnosis of Bardet Biedl Syndrome: A case report. 62
36406960 2023
3
Direction-changing spontaneous nystagmus in patients with dizziness. 62
36454383 2022
4
Novel phenotype with prominent cerebellar oculomotor dysfunction in spastic paraplegia type 39. 62
35947152 2022
5
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions. 62
36368327 2022
6
Clinical characteristics of congenital and developmental cataract in Kazakhstan. 62
36453339 2022
7
Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series. 62
36469668 2022
8
Ocular findings and genetic test in Alström syndrome in childhood. 62
36206858 2022
9
Efficacy and Safety of Ketamine vs Electroconvulsive Therapy Among Patients With Major Depressive Episode: A Systematic Review and Meta-analysis. 62
36260324 2022
10
Tracking Eye Movements for Diagnosis in Myasthenia Gravis: A Comprehensive Review. 62
35921559 2022
11
Cerebral visual impairment in children: Multicentric study determining the causes, associated neurological and ocular findings, and risk factors for severe vision impairment. 62
36453355 2022
12
Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy. 62
36393898 2022
13
Scale for Ocular motor Disorders in Ataxia (SODA). 62
36403298 2022
14
Novel phenotype and genotype spectrum of WDR62 in two patients with associated primary autosomal recessive microcephaly. 62
35031939 2022
15
MOG antibody associated disease (MOGAD) presenting with extensive brain stem encephalitis: A case report. 62
36388768 2022
16
Acute vertical pendular nystagmus: eye-movement analysis and review of the literature. 62
35904591 2022
17
Objective measurement of HINTS (Head Impulse, Nystagmus, Test of Skew) in peripheral vestibulopathy. 62
35339313 2022
18
Infantile nystagmus without overt eye abnormality: Early features and neuro-ophthalmological diagnosis. 62
35644009 2022
19
Gestational malnutrition, hyperemesis gravidarum, and Wernicke's encephalopathy: What is missing? 62
36250744 2022
20
Downbeat nystagmus in metronidazole neurotoxicity. 62
36451594 2022
21
The human brain networks mediating the vestibular sensation of self-motion. 62
36332321 2022
22
Diagnostic accuracy of the physical exam in emergency department patients with acute vertigo or dizziness: Systematic review and meta-analysis for GRACE-3. 62
36453134 2022
23
Vestibular paroxysmia: clinical characteristics and long-term course. 62
35595969 2022
24
Vestibular function in children with generalized epilepsy and treated with valproate. 62
36171021 2022
25
[High-dose medialis recession in latent nystagmus]. 62
36471014 2022
26
Downbeat nystagmus becomes attenuated during walking compared to standing. 62
35412151 2022
27
Smartphone-based nystagmus diagnostics: development of an innovative app for the targeted detection of vertigo. 62
35451613 2022
28
Timing for nystagmus evaluation by STANDING or HINTS in patients with vertigo/dizziness in the emergency department. 62
36448574 2022
29
Modeling the effect of gravity on periodic alternating nystagmus. 62
36115220 2022
30
Factors influencing HINTS exam usage by Canadian Emergency Medicine Physicians. 62
36109489 2022
31
Optokinetic set-point adaptation functions as an internal dynamic calibration mechanism for oculomotor disequilibrium. 62
36325052 2022
32
Life-threatening pediatric dextromethorphan polistirex overdose. 62
35989201 2022
33
Smartphone video nystagmography using convolutional neural networks: ConVNG. 62
36422668 2022
34
The clinical application of head-shaking test combined with head-shaking tilt suppression test in distinguishing between peripheral and central vertigo at bedside vs. examination room. 62
35760753 2022
35
Diagnosing and localizing the acute vestibular syndrome - Beyond the HINTS exam. 62
36270149 2022
36
Patterns of vestibular function in patients with dizziness after COVID-19 vaccination; dual tertiary referral center study. 62
36384386 2022
37
Studying the structure of the nucleus of the trochlear nerve in mice through 7 days of readaptation to earth gravity after spaceflight. 62
36096199 2022
38
Microperimetry assessment in foveal hypoplasia: functional results in a series of pediatric patients. 62
36423692 2022
39
Ocular contrapulsion followed by ipsipulsion in Wallenberg syndrome: The first case report in literature. 62
36105828 2022
40
Automated nystagmus detection: Accuracy of slow-phase and quick-phase algorithms to determine the presence of nystagmus. 62
36058057 2022
41
Efferent neuro-ophthalmic complications of coronavirus disease 2019. 62
36165417 2022
42
Incidence and clinical features of acute multiple small cerebellar infarction. 62
36174324 2022
43
Predictive values of neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and other prognostic factors in pediatric vestibular neuritis patients. 62
36436319 2022
44
Reading difficulties in amblyopia: Consequence of visual sensory and oculomotor dysfunction. 62
36242809 2022
45
A 43-Day-Old Male With Respiratory Distress and Acute-Onset Hypotonia. 62
36254627 2022
46
[A case of ocular albinism with an abnormal visual evoked potential]. 62
36348533 2022
47
Clinical Reasoning: A 12-Year-Old Girl With Acute Onset Diplopia, Dizziness and Upbeat Nystagmus. 62
36347627 2022
48
Eye movement abnormalities in neurodegenerative langerhans cell histiocytosis. 62
35760933 2022
49
Leigh syndrome is the main clinical characteristic of PTCD3 deficiency. 62
36450274 2022
50
Comparison of vestibular ocular reflex and gross motor development in children with semicircular canal aplasia and hypoplasia. 62
36137473 2022

Variations for Pathologic Nystagmus

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 11.1 GNAT2 CNGB3 CNGA3
2 10.29 PDE6C GNAT2 CNGB3 CNGA3

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 transmembrane transporter complex GO:1902495 9.56 CNGB3 CNGA3
2 photoreceptor outer segment GO:0001750 9.56 OPN1LW GNAT2 CNGB3 CACNA1F
3 intracellular cyclic nucleotide activated cation channel complex GO:0017071 9.46 CNGB3 CNGA3
4 BLOC-2 complex GO:0031084 9.1 HPS6 HPS5 HPS3

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 intracellular transport GO:0046907 9.95 HPS6 HPS5 HPS3
2 melanosome assembly GO:1903232 9.88 HPS6 HPS5 HPS3
3 melanocyte differentiation GO:0030318 9.83 OCA2 LRMDA HPS6
4 retinal cone cell development GO:0046549 9.8 PDE6C GNAT2
5 response to stimulus GO:0050896 9.8 CACNA1F CNGA3 CNGB3 CRYAA GNAT2 OPN1LW
6 organelle organization GO:0006996 9.77 HPS6 HPS5 HPS3
7 platelet dense granule organization GO:0060155 9.76 HPS6 HPS5 HPS3 BLOC1S3
8 eye pigment biosynthetic process GO:0006726 9.63 OCA2 GPR143
9 developmental pigmentation GO:0048066 9.62 OCA2 HPS5 BLOC1S3
10 visual perception GO:0007601 9.58 PDE6C PAX6 OPN1LW GPR143 GNAT2 CRYAA
11 pigmentation GO:0043473 9.43 OCA2 HPS6 HPS5 HPS3 BLOC1S3

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

# Name GO ID Score Top Affiliating Genes
1 intracellular cAMP-activated cation channel activity GO:0005222 9.46 CNGB3 CNGA3
2 intracellular cGMP-activated cation channel activity GO:0005223 9.26 CNGB3 CNGA3
3 cGMP binding GO:0030553 9.1 PDE6C CNGB3 CNGA3

Sources for Pathologic Nystagmus

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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