MCID: PTH003
MIFTS: 52

Pathologic Nystagmus

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Pathologic Nystagmus

MalaCards integrated aliases for Pathologic Nystagmus:

Name: Pathologic Nystagmus 12 15
Nystagmus 70

Classifications:



External Ids:

Disease Ontology 12 DOID:9650
ICD9CM 34 379.50
MeSH 44 D009759
NCIt 50 C3282
SNOMED-CT 67 194171007
ICD10 32 H55.0
UMLS 70 C0028738

Summaries for Pathologic Nystagmus

MalaCards based summary : Pathologic Nystagmus, also known as nystagmus, is related to congenital nystagmus and red-green color blindness, and has symptoms including ophthalmoplegia, neurologic symptoms and deficiencies of smooth pursuit movements. An important gene associated with Pathologic Nystagmus is TMEM67 (Transmembrane Protein 67), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Ectoderm Differentiation. The drugs Dopamine and Memantine have been mentioned in the context of this disorder. Affiliated tissues include eye, cortex and cerebellum, and related phenotypes are cellular and nervous system

Wikipedia : 73 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 113)
# Related Disease Score Top Affiliating Genes
1 congenital nystagmus 32.3 TYR PAX6 GPR143 CNGB3 CASK
2 red-green color blindness 10.6 RPE65 RHO CNGB3
3 joubert syndrome 9 10.6 TMEM67 RPE65 MKS1 CEP290
4 joubert syndrome 6 10.6 TMEM67 MKS1 CEP290
5 encephalocele 10.6 TMEM67 MKS1 CEP290
6 achromatopsia 4 10.6 RPE65 RHO KCNV2 CNGB3
7 pseudopapilledema 10.6 RPE65 GUCY2D CEP290
8 nephronophthisis 7 10.6 TMEM67 MKS1 CEP290
9 joubert syndrome 7 10.6 TMEM67 MKS1 CEP290
10 coloboma of iris 10.6 TMEM67 TFAP2A PAX6
11 joubert syndrome 2 10.6 TMEM67 MKS1 CEP290
12 albinism, oculocutaneous, type v 10.6 TYR MYO5A GPR143
13 meckel syndrome, type 2 10.6 TMEM67 MKS1 CEP290
14 occult macular dystrophy 10.6 RHO KCNV2 GUCY2D CNGB3
15 yemenite deaf-blind hypopigmentation syndrome 10.6 RPE65 RHO GUCY2D CEP290
16 nephronophthisis 14 10.6 TMEM67 MKS1 CEP290
17 leber congenital amaurosis 6 10.6 MKS1 GUCY2D CEP290
18 nephronophthisis 19 10.6 TMEM67 MKS1 CEP290
19 color blindness 10.6 RPE65 RHO GUCY2D CNGB3
20 choroid disease 10.6 RPE65 RHO GUCY2D CNGB3 CEP290
21 nystagmus 7, congenital, autosomal dominant 10.6 TYR SIX6 PAX6 GPR143
22 leber congenital amaurosis 9 10.6 RPE65 GUCY2D CEP290
23 leber congenital amaurosis 2 10.6 RPE65 RHO GUCY2D CNGB3 CEP290
24 meckel syndrome, type 5 10.6 TMEM67 MKS1 CEP290
25 scotoma 10.6 RPE65 RHO KCNV2 GUCY2D CNGB3
26 nystagmus 2, congenital, autosomal dominant 10.6 TYR SIX6 PAX6 GPR143
27 nephronophthisis 10.6 TMEM67 RHO MKS1 CEP290
28 optic nerve hypoplasia, bilateral 10.6 SIX6 RPE65 RHO PAX6
29 nystagmus 4, congenital, autosomal dominant 10.6 TYR SIX6 PAX6 GPR143
30 leber congenital amaurosis 10 10.6 RPE65 GUCY2D CEP290
31 nephronophthisis 9 10.6 TMEM67 MKS1 CEP290
32 cone-rod dystrophy 6 10.6 RPE65 KCNV2 GUCY2D CNGB3
33 leber congenital amaurosis 3 10.6 RPE65 GUCY2D CEP290
34 uveal disease 10.6 TYR RPE65 RHO PAX6
35 joubert syndrome 5 10.6 TMEM67 MKS1 CEP290
36 retinoschisis 1, x-linked, juvenile 10.6 RPE65 RHO GUCY2D CNGB3
37 choroideremia 10.6 RPE65 RHO GUCY2D CNGB3 CEP290
38 leber congenital amaurosis 1 10.6 RPE65 RHO GUCY2D CNGB3 CEP290
39 meckel syndrome, type 3 10.6 TMEM67 MKS1 CEP290
40 leber congenital amaurosis 4 10.6 RPE65 GUCY2D CEP290
41 nanophthalmos 10.6 SIX6 RPE65 RHO PAX6
42 meckel syndrome, type 4 10.6 TMEM67 MKS1 CEP290
43 prolonged electroretinal response suppression 10.6 RHO KCNV2 CNGB3
44 joubert syndrome 4 10.6 TMEM67 MKS1 CEP290
45 vitelliform macular dystrophy 10.6 RPE65 RHO KCNV2 GUCY2D CNGB3
46 nystagmus 6, congenital, x-linked 10.6 TYR PAX6 GPR143
47 bardet-biedl syndrome 14 10.5 TMEM67 MKS1 CEP290
48 hereditary retinal dystrophy 10.5 RPE65 RHO GUCY2D
49 leber congenital amaurosis / early-onset severe retinal dystrophy 10.5 RPE65 CEP290
50 joubert syndrome 3 10.5 TMEM67 MKS1 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.25 CASK CEP290 CNGB3 GNB1 KCNV2 MKS1
2 nervous system MP:0003631 10.19 CASK CEP290 CNGB3 GNB1 GPR143 GUCY2D
3 craniofacial MP:0005382 10.1 CASK CEP290 GNB1 MKS1 MYO5A PAX6
4 limbs/digits/tail MP:0005371 9.92 CASK GNB1 MKS1 MYO5A SGSH TFAP2A
5 hearing/vestibular/ear MP:0005377 9.85 HARS1 MKS1 MYO5A PAX6 TFAP2A TYR
6 pigmentation MP:0001186 9.76 CEP290 GPR143 MYO5A PAX6 RHO RPE65
7 skeleton MP:0005390 9.65 CASK CEP290 GNB1 KCNV2 MKS1 PAX6
8 vision/eye MP:0005391 9.53 CASK CEP290 CNGB3 GNB1 GPR143 GUCY2D

Drugs & Therapeutics for Pathologic Nystagmus

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

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
2
Memantine Approved, Investigational Phase 4 19982-08-2 4054
3
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
4
Brinzolamide Approved Phase 4 138890-62-7 68844
5 Psychotropic Drugs Phase 4
6 Analgesics Phase 4
7 Dopamine Agents Phase 4
8 Excitatory Amino Acid Antagonists Phase 4
9 Anticonvulsants Phase 4
10 Antiparkinson Agents Phase 4
11 Neurotransmitter Agents Phase 4
12 Anti-Anxiety Agents Phase 4
13 Pharmaceutical Solutions Phase 4
14 Ophthalmic Solutions Phase 4
15 Carbonic Anhydrase Inhibitors Phase 4
16
Clonidine Approved 4205-90-7 2803
17
Tropicamide Approved, Investigational 1508-75-4 5593
18 Kava Approved, Investigational, Nutraceutical 9000-38-8
19
Edrecolomab Experimental, Investigational 156586-89-9
20 Hormones
21 Anesthetics
22 Hormone Antagonists
23 Immunoglobulins
24 Adrenocorticotropic Hormone
25 Mydriatics
26 Corticotropin-Releasing Hormone
27 Antibodies
28
Arginine Investigational, Nutraceutical 74-79-3 6322

Interventional clinical trials:

(show all 30)
# 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 Treatment of Geotropic Horizontal Canal Benign Paroxysmal Positional Vertigo; Randomized Controlled Trial of Barbeque Rotation and Gufoni Maneuver Completed NCT01366430 Phase 3
4 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
5 Horizontal Rectus Tenotomy in the Treatment of Congenital Nystagmus Completed NCT00001866 Phase 2
6 Treatment of Pendular Nystagmus With Gabapentin and Memantine in Patients With Multiple Sclerosis Completed NCT01744444 Phase 2 Memantine;Gabapentin
7 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
8 Phase 2 Study of 4-Aminopyridine for the Treatment of Episodic Ataxia Type 2 Withdrawn NCT01543750 Phase 2 4-Aminopyridine;Placebo
9 Study of the Effectiveness of Vestibular Stimulation as a Coadjuvant Treatment in the Depressive Phase of Bipolar Disorder Unknown status NCT02778256
10 Accuracy of a Diagnostic Algorithm for the Differential Diagnosis of Vertigo in the Emergency Department: the STANDING. Completed NCT02782962
11 Production of a Device to Obtain Continuous Ambulatory Vestibular Assessment (CAVA) - Healthy Volunteer Trial Completed NCT03661762
12 Investigation and Treatment of Ocular Motor Disorders: Cross-over Comparison of Gabapentin and Memantine as Treatment for Nystagmus Completed NCT00928954 gabapentin;memantine
13 Clinical Aspects of Patients With Benign Paroxysmal Positional Vertigo (BPPV) and Migraine Completed NCT02615314
14 Functional Link Between Hippocampal and Vestibular Systems: a Pilot Study in Epilepsy Surgery Principal Investigator: Elizabeth VITTE Completed NCT01285921
15 Screening Study for the Evaluation and Diagnosis of Potential Research Subjects With Nystagmus or Strabismus Completed NCT00001861
16 Diagnostic Accuracy of the Vibration Induced Nystagmus Test in Room Light. Completed NCT02626052
17 The Effect of Vestibular Rehabilitation on Sensory Profile and Postrotary Nystagmus in Autistic Children Completed NCT03957044
18 Effects of Vestibular Rehabilitation in the Treatment of Patients With Acute Vestibular Loss. - A Randomized Controlled Trial Completed NCT00702832
19 Production of a Device to Obtain Continuous Ambulatory Vestibular Assessment (CAVA) - Dizziness Trial Recruiting NCT04026516
20 Biofeedback in Idiopathic Infantile Nystagmus Syndrome Recruiting NCT04142307
21 The Chromosome 18 Clinical Research Center Recruiting NCT00227253
22 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
23 Eye-ECG Approach to Emergencies : Diagnostic Performance of the HINTS Test Performed by Emergency Physicians to Distinguish a Central Cause From a Peripheral Cause of Isolated Acute Vestibular Syndrome Active, not recruiting NCT04118361
24 Clinical Application of Objective Visual Acuity Measurement Using Suppression Method to Inhibit Optokinetic Nystagmus (OKN). Active, not recruiting NCT04642495
25 App-delivered Therapy for Arabic Readers With Hemianopic Alexia Active, not recruiting NCT02482350
26 Evaluation of the Efficacy of BOARDING RING Glasses in the Treatment of Vestibular Neuritis Not yet recruiting NCT04678167
27 Normative Data for Post-rotatory Nystagmus Test at Spanish Adolescent and Adult Population: a Transversal Study Not yet recruiting NCT04788134
28 Epley Manoeuvre for Posterior Semi-circular Canal Benign Paroxysmal Positional Vertigo in People With Multiple Sclerosis: Protocol of a Randomized Controlled Trial Not yet recruiting NCT04578262
29 Visual Impairment, Oscillopsia and Multiple Sclerosis Terminated NCT00498199
30 The Effects of ProFoveate on Reducing Self-Stimulating Behaviors in Children Diagnosed With Autism Spectrum Disorders Terminated NCT02088047

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, Cortex, Cerebellum, Retina, Pineal, Endothelial, Spinal Cord

Publications for Pathologic Nystagmus

Articles related to Pathologic Nystagmus:

(show top 50) (show all 13480)
# Title Authors PMID Year
1
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
2
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 6
27108799 2016
3
New mutation in Fabry disease: c.448delG, first phenotypic description. 61
33732617 2021
4
Influence of a 30-day spaceflight on the structure of motoneurons of the trochlear nerve nucleus in mice. 61
33539796 2021
5
Parameter dependence in visual pattern-component rivalry at onset and during prolonged viewing. 61
33610002 2021
6
Analysis of genotype-phenotype correlations in PAX6-associated aniridia. 61
32467297 2021
7
Clinical Characteristics and Management of 50 Patients with Anti-GAD Ataxia: Gluten-Free Diet Has a Major Impact. 61
33084997 2021
8
Acute Unilateral Masseter Muscle Paralysis Caused by Pontine Infarction. 61
33486342 2021
9
Unique Variant of Cerebrotendinous Xanthomatosis Presenting With Eyelid Involvement Due to Heterozygous CYP7A1 and SLC10A1 Gene Mutations. 61
33298707 2021
10
Unusual case presentation of fungal ball infection causing diabetes insipidus and seizure disorder. 61
33537110 2021
11
Clinical and anatomopathological aspects of Stryphnodendron fissuratum poisoning in cattle and sheep. 61
33524427 2021
12
Ruptured Vertebral Aneurysm With Progressive Deafness and Bruns Nystagmus. 61
33534385 2021
13
Vibration-induced nystagmus and head impulse test screening for vestibular schwannoma. 61
33583327 2021
14
COVID-19 presenting with nystagmus. 61
33279355 2021
15
Clinical Implications of Horizontal Beating Nystagmus Induced by Dix-Hallpike Test in the Diagnosis of Horizontal Canal Benign Paroxysmal Positional Vertigo. 61
33710997 2021
16
Square wave manoeuvre for apogeotropic variant of horizontal canal benign paroxysmal positional vertigo in neck restricted patients. 61
33777117 2021
17
Agreement Between Physical Therapists in Diagnosing Benign Paroxysmal Positional Vertigo. 61
33675601 2021
18
Upbeat Nystagmus in Dorsolateral Pontine Infarction. 61
32141978 2021
19
Congenital Aniridia - A Comprehensive Review of Clinical Features and Therapeutic Approach. 61
33675823 2021
20
Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency. 61
33648541 2021
21
Medial-tonsillar telovelar approach for resection of a superior medullary velum cerebral cavernous malformation: anatomical and tractography study of the surgical approach and functional implications. 61
32524247 2021
22
A NOVEL CASE SERIES OF NMNAT1-ASSOCIATED EARLY-ONSET RETINAL DYSTROPHY: EXTENDING THE PHENOTYPIC SPECTRUM. 61
30004997 2021
23
[Diagnosis and Differential Diagnosis of Peripheral and Central Vestibular Disorders]. 61
33636730 2021
24
The cingulate oculomotor cortex. 61
33812229 2021
25
Acute vestibulopathy with simultaneous bilateral involvement of the vestibulo-ocular reflex limited to the low-frequency range. 61
33810924 2021
26
Effects of Betahistine on the Development of Vestibular Compensation after Unilateral Labyrinthectomy in Rats. 61
33799856 2021
27
Cannabinoids and the eye. 61
32763339 2021
28
Cardiogenic vertigo: characteristics and proposed diagnostic criteria. 61
33025120 2021
29
[A study of the effect of hot and cold gas perfusion sequence on caloric test results]. 61
33794603 2021
30
Isolated Medial Longitudinal Fasciculus Midbrain Infarction Mimicking Medial Rectus Paralysis. 61
33646992 2021
31
Alström syndrome: an ultra-rare monogenic disorder as a model for insulin resistance, type 2 diabetes mellitus and obesity. 61
33566311 2021
32
Sporadic Creutzfeldt-Jacob disease presenting as epilepsia partialis continua and non-ictal nystagmus. 61
33786955 2021
33
Ranibizumab in retinopathy of prematurity - one-year follow-up of ophthalmic outcomes and two-year follow-up of neurodevelopmental outcomes from the CARE-ROP study. 61
33742551 2021
34
Central nystagmus in progressive supranuclear palsy: A neglected clinical feature? 61
33517029 2021
35
Clinical reasoning in canine vestibular syndrome: Which presenting factors are important? 61
33739504 2021
36
Acute Labyrinthitis Revealing COVID-19. 61
33803267 2021
37
Homozygous TFG gene variants expanding the mutational and clinical spectrum of hereditary spastic paraplegia 57 and a review of literature. 61
33767317 2021
38
Advisability of primary intraocular lens implantation for infants under 2: A systematic review and meta-analysis. 61
33724630 2021
39
[Effects of vestibular spontaneous nystagmus on visual smooth pursuit function]. 61
33730812 2021
40
Current landscape of Oculocutaneous Albinism in Japan. 61
32969595 2021
41
Identification of a novel GPR143 mutation in a large Chinese family with isolated foveal hypoplasia. 61
33785018 2021
42
RP2 Rod-Cone Dystrophy Causes Spasmus Nutans-Like Nystagmus. 61
31972715 2021
43
A Window Into the Whole Story: Temporal Bone Plasmacytoma Presenting With a Mobile Third Window. 61
32750153 2021
44
Is 20/20 visual outcome a reality in rubella cataract? - Prognostic factors in children with cataract associated with congenital rubella syndrome. 61
33595483 2021
45
Presentation, surgery and 1-year outcomes of childhood cataract surgery in Tanzania. 61
32522793 2021
46
Grating visual acuity impairment assessed by sweep visually evoked potentials in children with optic pathway tumors unable to perform optotype acuity tests. 61
33567011 2021
47
Congenital stationary night blindness in a patient with mild learning disability due to a compound heterozygous microdeletion of 15q13 and a missense mutation in TRPM1. 61
33691579 2021
48
Current and emerging treatments for albinism. 61
33129801 2021
49
Exome sequencing and electro-clinical features in pediatric patients with very early-onset retinal dystrophies: A cohort study. 61
33529788 2021
50
Quantitative evaluation of oculomotor disturbances in progressive supranuclear palsy. 61
33744691 2021

Variations for Pathologic Nystagmus

ClinVar genetic disease variations for Pathologic Nystagmus:

6 (show all 49)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RPE65 NM_000329.3(RPE65):c.1084C>T (p.Gln362Ter) SNV Pathogenic 812758 rs1571164333 GRCh37: 1:68903914-68903914
GRCh38: 1:68438231-68438231
2 SIX6 NM_007374.3(SIX6):c.547G>C (p.Asp183His) SNV Pathogenic 637058 rs1594631582 GRCh37: 14:60976663-60976663
GRCh38: 14:60509945-60509945
3 MYO5A NM_000259.3(MYO5A):c.4200C>G (p.Ser1400Arg) SNV Pathogenic 242881 rs1114167290 GRCh37: 15:52632432-52632432
GRCh38: 15:52340235-52340235
4 SGSH NM_000199.5(SGSH):c.1272_1282del (p.Tyr424_Arg428delinsTer) Deletion Pathogenic 287037 rs752914124 GRCh37: 17:78184478-78184488
GRCh38: 17:80210679-80210689
5 GNB1 NM_002074.5(GNB1):c.284T>C (p.Leu95Pro) SNV Pathogenic 224716 rs869312824 GRCh37: 1:1736004-1736004
GRCh38: 1:1804565-1804565
6 CEP290 NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) SNV Pathogenic 1339 rs137852834 GRCh37: 12:88477713-88477713
GRCh38: 12:88083936-88083936
7 RUBCN NM_014687.4(RUBCN):c.319G>A (p.Glu107Lys) SNV Pathogenic 242884 rs1114167292 GRCh37: 3:197431557-197431557
GRCh38: 3:197704686-197704686
8 RUBCN NM_014687.4(RUBCN):c.1642A>G (p.Thr548Ala) SNV Pathogenic 242883 rs767982852 GRCh37: 3:197421288-197421288
GRCh38: 3:197694417-197694417
9 overlap with 4 genes GRCh37/hg19 17p13.3(chr17:2339561-2826073) copy number loss Pathogenic 523261 GRCh37: 17:2339561-2826073
GRCh38:
10 TYR NM_000372.5(TYR):c.1A>G (p.Met1Val) SNV Pathogenic 3807 rs28940881 GRCh37: 11:88911122-88911122
GRCh38: 11:89177954-89177954
11 RHO NM_000539.3(RHO):c.891C>G (p.Ser297Arg) SNV Pathogenic 523376 rs142285818 GRCh37: 3:129251570-129251570
GRCh38: 3:129532727-129532727
12 TFAP2A NM_001032280.3(TFAP2A):c.1019_1020del (p.Lys340fs) Deletion Pathogenic 523459 rs1554110735 GRCh37: 6:10398926-10398927
GRCh38: 6:10398693-10398694
13 MKS1 NM_001165927.1(MKS1):c.1136-2A>C SNV Pathogenic 523519 rs1488635637 GRCh37: 17:56285364-56285364
GRCh38: 17:58208003-58208003
14 MKS1 NM_001165927.1(MKS1):c.1446T>G (p.Cys482Trp) SNV Pathogenic 1393 rs137853105 GRCh37: 17:56283840-56283840
GRCh38: 17:58206479-58206479
15 HARS1 NM_002109.6(HARS1):c.730delG Deletion Pathogenic 804286 rs1581505917 GRCh37: 5:140057005-140057005
GRCh38: 5:140677420-140677420
16 NDUFA13 NM_015965.7(NDUFA13):c.194del (p.Phe65fs) Deletion Pathogenic 983476 GRCh37: 19:19638109-19638109
GRCh38: 19:19527300-19527300
17 NDUFA13 NM_015965.7(NDUFA13):c.107T>C (p.Leu36Pro) SNV Pathogenic 983478 GRCh37: 19:19637003-19637003
GRCh38: 19:19526194-19526194
18 KCNV2 NM_133497.4(KCNV2):c.1381G>A (p.Gly461Arg) SNV Pathogenic 37247 rs149648640 GRCh37: 9:2729470-2729470
GRCh38: 9:2729470-2729470
19 GNB1 NM_002074.5(GNB1):c.239T>C (p.Ile80Thr) SNV Pathogenic 208722 rs752746786 GRCh37: 1:1737942-1737942
GRCh38: 1:1806503-1806503
20 CNGB3 NM_019098.4(CNGB3):c.819_826del (p.Arg274fs) Deletion Pathogenic 374027 rs775796581 GRCh37: 8:87679179-87679186
GRCh38: 8:86666951-86666958
21 TYR NM_000372.5(TYR):c.1037-7T>A SNV Pathogenic 99527 rs61754381 GRCh37: 11:88960984-88960984
GRCh38: 11:89227816-89227816
22 CEP290 NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter) SNV Pathogenic 373994 rs1057518822 GRCh37: 12:88496665-88496665
GRCh38: 12:88102888-88102888
23 HARS1 NM_002109.6(HARS1):c.616G>T (p.Asp206Tyr) SNV Pathogenic 804285 rs1131040 GRCh37: 5:140057507-140057507
GRCh38: 5:140677922-140677922
24 TMEM67 NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter) SNV Pathogenic 506012 rs765468645 GRCh37: 8:94777641-94777641
GRCh38: 8:93765413-93765413
25 SGSH NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) SNV Pathogenic 30459 rs138504221 GRCh37: 17:78185927-78185927
GRCh38: 17:80212128-80212128
26 TMEM67 NM_153704.6(TMEM67):c.2418_2423dup (p.805_806MN[3]) Duplication Likely pathogenic 523562 rs1554558365 GRCh37: 8:94817079-94817080
GRCh38: 8:93804851-93804852
27 KIF7 NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser) SNV Likely pathogenic 374124 rs758361736 GRCh37: 15:90193067-90193067
GRCh38: 15:89649836-89649836
28 GALC NM_000153.4(GALC):c.196G>A (p.Ala66Thr) SNV Likely pathogenic 374023 rs1057518843 GRCh37: 14:88454867-88454867
GRCh38: 14:87988523-87988523
29 TMEM67 NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) SNV Likely pathogenic 1383 rs201893408 GRCh37: 8:94808198-94808198
GRCh38: 8:93795970-93795970
30 NMNAT1 NM_022787.4(NMNAT1):c.769G>A (p.Glu257Lys) SNV Likely pathogenic 37134 rs150726175 GRCh37: 1:10042688-10042688
GRCh38: 1:9982630-9982630
31 TMEM67 NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) SNV Likely pathogenic 217725 rs752362727 GRCh37: 8:94798483-94798483
GRCh38: 8:93786255-93786255
32 OTX2 NM_021728.4(OTX2):c.191_193delinsGG (p.Leu64fs) Indel Likely pathogenic 523565 rs1555350397 GRCh37: 14:57270986-57270988
GRCh38: 14:56804268-56804270
33 ELP4 , PAX6 NM_019040.5(ELP4):c.*6411T>A SNV Likely pathogenic 3474 rs121907922 GRCh37: 11:31811483-31811483
GRCh38: 11:31789935-31789935
34 GALC NM_000153.4(GALC):c.850G>A (p.Gly284Ser) SNV Likely pathogenic 374024 rs377274761 GRCh37: 14:88434737-88434737
GRCh38: 14:87968393-87968393
35 COL18A1 , SLC19A1 NM_030582.4(COL18A1):c.3979C>T (p.Arg1327Ter) SNV Likely pathogenic 373961 rs1057518802 GRCh37: 21:46929468-46929468
GRCh38: 21:45509554-45509554
36 NDP-AS1 , NDP NM_000266.4(NDP):c.314C>T (p.Ala105Val) SNV Likely pathogenic 374014 rs1057518836 GRCh37: X:43809133-43809133
GRCh38: X:43949887-43949887
37 COL18A1 NM_030582.4(COL18A1):c.1469-2A>G SNV Likely pathogenic 373962 rs765919785 GRCh37: 21:46897323-46897323
GRCh38: 21:45477409-45477409
38 GUCY2D NM_000180.3(GUCY2D):c.129_134delTCTGCT (p.Leu44_Leu45del) Deletion Likely pathogenic 283615 rs552184470 GRCh37: 17:7906489-7906494
GRCh38: 17:8003171-8003176
39 OPHN1 NM_002547.3(OPHN1):c.746T>C (p.Leu249Pro) SNV Likely pathogenic 374192 rs1057518963 GRCh37: X:67430081-67430081
GRCh38: X:68210239-68210239
40 CASK NM_001367721.1(CASK):c.2236+1delinsAT Indel Likely pathogenic 523464 rs1555975523 GRCh37: X:41394145-41394145
GRCh38: X:41534892-41534892
41 CASK NM_001367721.1(CASK):c.2521-2A>G SNV Likely pathogenic 265316 rs398122845 GRCh37: X:41383289-41383289
GRCh38: X:41524036-41524036
42 SETX NM_015046.7(SETX):c.5222dup (p.Asp1742fs) Duplication Likely pathogenic 183294 rs730882209 GRCh37: 9:135201762-135201763
GRCh38: 9:132326375-132326376
43 COQ8A NM_020247.5(COQ8A):c.1744dup (p.Ser582fs) Duplication Likely pathogenic 183336 rs1553281318 GRCh37: 1:227174237-227174238
GRCh38: 1:226986536-226986537
44 GPR143 NM_000273.3(GPR143):c.12_36del (p.Leu6fs) Deletion Likely pathogenic 373941 rs1057518787 GRCh37: X:9733822-9733846
GRCh38: X:9765782-9765806
45 INPP4A NM_001134225.2(INPP4A):c.350_351TC[1] (p.Ser118fs) Microsatellite Likely pathogenic 804386 rs1574965220 GRCh37: 2:99152270-99152271
GRCh38: 2:98535807-98535808
46 TBC1D24 NM_001199107.2(TBC1D24):c.920A>G (p.Asn307Ser) SNV Uncertain significance 583333 rs761934676 GRCh37: 16:2547069-2547069
GRCh38: 16:2497068-2497068
47 MIP NM_012064.4(MIP):c.513del (p.His172fs) Deletion Uncertain significance 834061 GRCh37: 12:56847387-56847387
GRCh38: 12:56453603-56453603
48 GUCY2D NM_000180.4(GUCY2D):c.1315G>A (p.Gly439Arg) SNV Uncertain significance 374028 rs140638938 GRCh37: 17:7909969-7909969
GRCh38: 17:8006651-8006651
49 BCORL1 NM_021946.4(BCORL1):c.532A>G (p.Thr178Ala) SNV Uncertain significance 598967 rs778220343 GRCh37: X:129147280-129147280
GRCh38: X:130013304-130013304

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:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.35 TYR TMEM67 RPE65 RHO PAX6 NDUFA13
2 lysosome GO:0005764 9.8 TYR SGSH RUBCN MYO5A GPR143
3 melanosome GO:0042470 9.63 TYR MYO5A GPR143
4 ciliary membrane GO:0060170 9.54 TMEM67 RHO CASK
5 ciliary transition zone GO:0035869 9.5 TMEM67 MKS1 CEP290
6 photoreceptor outer segment GO:0001750 9.46 RHO GUCY2D GNB1 CNGB3
7 melanosome membrane GO:0033162 9.43 TYR GPR143
8 photoreceptor disc membrane GO:0097381 9.43 RHO GUCY2D GNB1
9 photoreceptor outer segment membrane GO:0042622 9.13 RHO GUCY2D GNB1
10 MKS complex GO:0036038 8.8 TMEM67 MKS1 CEP290

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

# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.5 TMEM67 MKS1 CEP290
2 melanosome transport GO:0032402 9.4 MYO5A GPR143
3 eye photoreceptor cell development GO:0042462 9.37 PAX6 CEP290
4 rhodopsin mediated signaling pathway GO:0016056 9.26 RHO GNB1
5 retina development in camera-type eye GO:0060041 9.26 RPE65 RHO PAX6 GNB1
6 visual perception GO:0007601 9.23 TYR SIX6 RPE65 RHO PAX6 GUCY2D
7 eye pigment biosynthetic process GO:0006726 9.16 TYR GPR143

Sources for Pathologic Nystagmus

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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