MCID: CNG024
MIFTS: 40

Congenital Nystagmus malady

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Congenital Nystagmus

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Aliases & Descriptions for Congenital Nystagmus:

Name: Congenital Nystagmus 11 27 13 68
Nystagmus, Congenital 39
 
Nystagmus Congenital 50

Classifications:



External Ids:

Disease Ontology11 DOID:9649
ICD1030 H55.01
ICD9CM32 379.51
MeSH39 D020417

Summaries for Congenital Nystagmus

About this section
Disease Ontology:11 A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction.

MalaCards based summary: Congenital Nystagmus, also known as nystagmus, congenital, is related to hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response and split-hand with congenital nystagmus, fundal changes, and cataracts, and has symptoms including ataxia, cerebellar ataxia and ophthalmoplegia. An important gene associated with Congenital Nystagmus is FRMD7 (FERM Domain Containing 7). Affiliated tissues include eye, brain and skin, and related mouse phenotypes are pigmentation and vision/eye.

Related Diseases for Congenital Nystagmus

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Diseases in the Congenital Nystagmus family:

Nystagmus 7, Congenital, Autosomal Dominant Nystagmus 2, Congenital, Autosomal Dominant
Nystagmus 3, Congenital, Autosomal Dominant Nystagmus 4, Congenital, Autosomal Dominant
Frmd7-Related Infantile Nystagmus

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

(show top 50)    (show all 58)
idRelated DiseaseScoreTop Affiliating Genes
1hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response11.9
2split-hand with congenital nystagmus, fundal changes, and cataracts11.8
3nystagmus, congenital motor, autosomal recessive11.8
4nystagmus 6, congenital, x-linked11.3
5nystagmus 1, congenital, x-linked11.0
6o donnell pappas syndrome10.8
7split hand split foot nystagmus10.8
8x-linked infantile nystagmus10.8
9nystagmus 7, congenital, autosomal dominant10.7
10nystagmus 2, congenital, autosomal dominant10.7
11nystagmus 3, congenital, autosomal dominant10.7
12nystagmus 4, congenital, autosomal dominant10.7
13nystagmus 5, congenital, x-linked10.7
14mucopolysaccharidosis10.3FRMD7, GPR143
15splenic sequestration10.3FRMD7, GPR143
16glaucoma 3a, primary open angle, congenital, juvenile, or adult onset10.2PAX6, TYR
17agammaglobulinemia 410.2OCA2, TYR
18prostate cancer, hereditary, 710.1MC1R, OCA2
19pulp degeneration10.1MC1R, OCA2
20dyschromatosis symmetrica hereditaria10.1OCA2, TYR
21heavy chain disease10.0MC1R, TYR
22retinitis10.0
23albinism9.9
24learning disability9.9MC1R, TYR
25birth defects9.9GPR143, OCA2, TYR
26hypogonadotropic hypogonadism 24 without anosmia9.9PAX6, TYR
27penis carcinoma in situ9.9MC1R, TYR
28ciliary body spindle cell melanoma9.9MC1R, TYR
29conjunctival folliculosis9.8MC1R, OCA2, TYR
30astigmatism9.7
31hypothyroidism9.7
32strabismus9.7
33refractive error9.7
34hypotonia9.7
35spasmus nutans9.7
36acute biphenotypic leukemia9.7CNGA3, FRMD7, SLC38A8
37intracranial structure hemangioma9.6MC1R, TYR
38klippel-trenaunay-weber syndrome9.6
39aniridia9.6
40fragile x syndrome9.6
41woods syndrome9.6
42achromatopsia9.6
43ocular albinism9.6
44multiple epiphyseal dysplasia9.6
45visual pathway disease9.6
46vestibular nystagmus9.6
47down syndrome9.6
48dysostosis9.6
49neuronitis9.6
50esotropia9.6

Graphical network of the top 20 diseases related to Congenital Nystagmus:



Diseases related to congenital nystagmus

Symptoms & Phenotypes for Congenital Nystagmus

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UMLS symptoms related to Congenital Nystagmus:


ataxia, cerebellar ataxia, ophthalmoplegia, smooth pursuit movement deficiency, hyperexplexia, difficulty standing, abnormal coordination, equilibration disorder

MGI Mouse Phenotypes related to Congenital Nystagmus according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.1GPR143, MC1R, OCA2, PAX6, TYR
2MP:00053918.4CNGA3, GPR143, OCA2, PAX6, TYR

Drugs & Therapeutics for Congenital Nystagmus

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

(show all 16)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Clonidineapproved2264205-90-72803
Synonyms:
1H-Imidazol-2-amine, N-(2,6-dichlorophenyl)-4,5-dihydro- (9CI)
2,6-Dichloro-N-2-imidazolidinylidenebenzenamine
2,6-dichloro-N-(2-imidazolidinylidene)aniline
2,6-dichloro-N-2-imidazolidinylidenebenzenamide
2,6-dichloro-N-imidazolidin-2-ylideneaniline
2-((2,6-Dichlorophenyl)imino)imidazolidine
2-(2,6-Dichloroanilino)-1,3-diazacyclopentene-(2)
2-(2,6-Dichloroanilino)-2-imidazoline
2-(2,6-Dichlorophenylamino)-2-imidazoline
2-(2,6-Dichlorophenylimino)imidazolidine
2-Imidazoline, 2-(2,6-dichloroanilino)- (7CI,8CI)
2-[(2,6-Dichlorophenyl)imino]imidazoline
2-[(2,6-dichlorophenyl)imino]-2-imidazoline
4205-90-7
4205-91-8 (mono-hydrochloride)
57066-25-8
734571A
AB00514634
AC1L1EI5
AC1Q3K6V
AKOS001595470
Adesipress
BIDD:GT0547
BPBio1_000040
BRD-K98530306-001-02-1
BRD-K98530306-003-05-0
BSPBio_000036
BSPBio_001588
BSPBio_002055
Bio1_000470
Bio1_000959
Bio1_001448
Bio2_000308
Bio2_000788
C9H9Cl2N3
CAS-4205-91-8
CATAPRES-TTS-1
CATAPRES-TTS-2
CATAPRES-TTS-3
CCRIS 7787
CHEBI:3757
CHEBI:46632
CHEMBL134
CID2803
Catapres
Catapres- TTS
Catapres-TTS
Catapresan
Catapressan
Catarpres
Catarpres-TTS
Catarpres-TTS (TN)
Catarpresan
Chlofazoline
Chlornidinum
Clofenil
Clonidin
Clonidina
Clonidina [INN-Spanish]
Clonidine (JAN/USAN/INN)
Clonidine HCl
Clonidine [USAN:BAN:INN]
Clonidinhydrochlorid
Clonidinum
Clonidinum [INN-Latin]
Clonistada
Clopheline
D00281
DB00575
DB07566
DivK1c_000774
 
Dixarit
Duraclon
Duraclont
EINECS 224-119-4
Gemiton
HMS1361P10
HMS1791P10
HMS1989P10
HMS2089G11
HSDB 3040
Hemiton
IDI1_000774
IDI1_034058
Ipotensium
Isoglaucon
KBio1_000774
KBio2_000308
KBio2_001821
KBio2_002876
KBio2_004389
KBio2_005444
KBio2_006957
KBio3_000615
KBio3_000616
KBio3_001275
KBioGR_000308
KBioGR_001572
KBioSS_000308
KBioSS_001821
Klofelin
Klofenil
L000193
LS-79606
Lopac-C-7897
Lopac0_000268
M 5041T
M-5041T
MolPort-001-779-668
MolPort-005-932-374
N-(2,6-Dichlorophenyl)-4,5-dihydro-1H-imidazol-2-amine
NCGC00015268-01
NCGC00015268-02
NCGC00015268-08
NCGC00024734-01
NCGC00024734-02
NCGC00024734-03
NCGC00024734-04
NCGC00024734-05
NCGC00179680-01
NINDS_000774
Prestwick0_000248
Prestwick1_000248
Prestwick2_000248
Prestwick3_000248
SKF 34427
SPBio_001233
SPBio_002255
ST 155BS
ST-155-BS
ST-155BS
Spectrum2_001187
Spectrum3_000358
Spectrum4_000956
Spectrum5_000759
Spectrum_001341
T171
Tenso-Timelets
Tocris-0690
UNII-MN3L5RMN02
ZINC00896484
clonidine
nchembio.79-comp11
nchembio705-10
2
Mentholapproved23532216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol
3
Tropicamideapproved221508-75-45593
Synonyms:
(+-)-N-Ethyl-2-phenyl-N-(4-pyridylmethyl)hydracrylamide
1508-75-4
5-22-09-00359 (Beilstein Handbook Reference)
AB00052120
AC-816
AC1L1KOZ
AC1Q5IFA
AR-1K6980
Akorn Brand of Tropicamide
Alcon Brand of Tropicamide
BPBio1_000303
BRD-A79672927-001-05-8
BRN 0285563
BSPBio_000275
BSPBio_002289
Bio-0810
Bistropamide
Bournonville Brand of Tropicamide
CHEMBL1200604
CID5593
CPD000058523
Cahill May Roberts Brand of Tropicamide
Chauvin Brand of Tropicamide
Colircusi Tropicamida
D00397
D014331
DB00809
DivK1c_000448
EINECS 216-140-2
EU-0101223
Epitromina
HMS1568N17
HMS1921I09
HMS2089M05
HMS2092A18
HMS501G10
I-Picamide
I06-0811
IDI1_000448
KBio1_000448
KBio2_001064
KBio2_003632
KBio2_006200
KBio3_001509
KBioGR_000873
KBioSS_001064
L001262
LS-28545
Lopac0_001223
MLS001306442
MLS002154240
Medical Ophthalmics Brand of Tropicamide
Minims tropicamide
MolPort-000-159-321
Mydral
Mydriacyl
Mydriacyl (TN)
Mydriafair
Mydriaticum
Mydrum
N-Ethyl-2-phenyl-N-(4-pyridylmethyl)hydracrylamide
N-Ethyl-2-phenyl-N-4-[-pyridyl-methyl]hydracrylamide
N-Ethyl-N-(4-pyridylmethyl)tropamid
N-Ethyl-N-(4-pyridylmethyl)tropamide
N-Ethyl-alpha-(hydroxymethyl)-N-(4-pyridinylmethyl)benzeneacetamide
N-ethyl-3-hydroxy-2-phenyl-N-(pyridin-4-ylmethyl)propanamide
NCGC00016065-03
NCGC00016065-08
 
NCGC00024866-02
NCGC00024866-03
NCGC00024866-04
NCGC00024866-05
NCGC00024866-06
NINDS_000448
Novartis Brand of Tropicamide
Ocu Tropic
Ocu-Tropic
OcuTropic
Ocumed Brand of Tropicamide
Ocusoft Brand of Tropicamide
Opticyl
Paremyd
Pharmafair Brand of Tropicamide
Prestwick0_000228
Prestwick1_000228
Prestwick2_000228
Prestwick3_000228
Prestwick_487
Rivex Brand of Tropicamide
Ro 1-7683
SAM002564235
SMP1_000304
SMR000058523
SPBio_000872
SPBio_002196
SPECTRUM1500599
STK934612
Spectro-Cyl
Spectrum2_000936
Spectrum3_000655
Spectrum4_000377
Spectrum5_001585
Spectrum_000584
Stulln Brand 1 of Tropicamide
Stulln Brand 2 of Tropicamide
T 9778
T9778_SIGMA
TL8001101
Triaminic DM
Tropicacyl
Tropicamid
Tropicamida
Tropicamida [INN-Spanish]
Tropicamide
Tropicamide (JP15/USP/INN)
Tropicamide Alcon Brand
Tropicamide Chauvin Brand
Tropicamide Faure
Tropicamide Minims
Tropicamide Monofree
Tropicamide Monohydrochloride, (R)-Isomer
Tropicamide Monohydrochloride, (S)-Isomer
Tropicamide Novartis Brand
Tropicamide Ocumed Brand
Tropicamide Pharmafair Brand
Tropicamide Rivex Brand
Tropicamide [USAN:INN:BANJAN]
Tropicamide, (+-)-Isomer
Tropicamide, (R)-Isomer
Tropicamide, (S)-Isomer
Tropicamidum
Tropicamidum [INN-Latin]
Tropikamid
Tropimil
UNII-N0A3Z5XTC6
Visumidriatic
n-ethyl-n-(g-picolyl)tropamide
tropicamide
4
4-Aminopyridineapproved68504-24-51727
Synonyms:
.gamma.-Aminopyridine
275875_ALDRICH
36687_FLUKA
36687_RIEDEL
4 AP
4 Aminopyridine
4 Aminopyridine Sustained Release
4-AP
4-Aminopyridine
4-Aminopyridine 10
4-Aminopyridine Sustained Release
4-Pyridinamine
4-Pyridylamine
4-aminopyridine
5-22-09-00106 (Beilstein Handbook Reference)
504-24-5
A 0152
A0414
A78403_ALDRICH
AB1004971
AC-907/25014071
AC1L1C3R
AC1Q52BM
AI3-52547
AKOS000119896
Amaya
Amino-4 pyridine
Amino-4-Pyridine
Ampydin
Ampyra
Avitrol
Avitrol 200
BB_SC-6974
BRN 0105782
BSPBio_001562
Bio1_000353
Bio1_000842
Bio1_001331
Bio2_000282
Bio2_000762
C13728
C5H6N2
CHEBI:34385
CHEMBL284348
CID1727
Caswell No. 038
Compound 1861
D015761
D04127
Dalfampridine
DivK1c_000572
EINECS 207-987-9
EL-970
EPA Pesticide Chemical Code 069201
EU-0100032
FT-0083754
Fampridina
Fampridine
Fampridine (USAN/INN)
Fampridine SR
Fampridine [USAN:INN]
Fampridine-PR
Fampridine-SR
Fampridinum
HC150041
HMS1361O04
HMS1791O04
HMS1921H15
HMS1989O04
HMS2092F05
HMS501M14
HSDB 6037
IDI1_000572
IDI1_034032
InChI=1/C5H6N2/c6-5-1-3-7-4-2-5/h1-4H,(H2,6,7
KBio1_000572
 
KBio2_000282
KBio2_000635
KBio2_002850
KBio2_003203
KBio2_005418
KBio2_005771
KBio3_000563
KBio3_000564
KBio3_001888
KBioGR_000282
KBioGR_001505
KBioSS_000282
KBioSS_000635
LS-130202
Lopac-A-0152
Lopac0_000032
MLS000069400
Mi-W-3
MolPort-000-146-022
N07XX07
NCGC00015009-01
NCGC00015009-03
NCGC00015009-12
NCGC00024890-01
NCGC00024890-02
NCGC00024890-03
NCGC00024890-04
NCGC00024890-05
NCGC00024890-06
NCGC00024890-07
NCGC00024890-08
NCGC00024890-09
NCGC00024890-10
NINDS_000572
NSC 15041
NSC15041
Neurelan
Neurelan (TN)
P-Aminopyridine
PYRIDINE,4-AMINO
Philips 1861
Phillips 1861
Pimadin (free base)
Prc 1237
Pymadin
Pymadine
RCRA waste no. P008
SDCCGMLS-0066228.P001
SMR000058211
SPBio_001486
SPECTRUM1501130
STK298717
Spectrum2_001413
Spectrum3_000914
Spectrum4_001013
Spectrum5_001501
Spectrum_000155
Sustained Release, 4-Aminopyridine
TL8003344
Tocris-0940
UNII-BH3B64OKL9
UPCMLD-DP125
UPCMLD-DP125:001
VMI 10-3
VMI 103
VMI-10-3
VMI-103
VMI103
WLN: T6NJ DZ
[J.Pharmacol.Exp.Ther. 275:864 (1995)]
gamma-Aminopyridine
nchem.892-comp4
p-Aminopyridine
p-Aminopyridine [UN2671] [Poison]
p-Aminopyridine [UN2671] [Poison]
pyridin-4-amine
pyridin-4-ylamine
5Immunoglobulins6045
6Mydriatics763
7Hormones, Hormone Substitutes, and Hormone Antagonists12767
8Hormones13979
9Anesthetics9001
10Antibodies6045
11Adrenocorticotropic Hormone155
12Hormone Antagonists12778
13Corticotropin-Releasing Hormone28
14Potassium Channel Blockers176
153,4-diaminopyridine19
16arginineNutraceutical408

Interventional clinical trials:

idNameStatusNCT IDPhase
1Eye Muscle Surgery to Treat Congenital NystagmusCompletedNCT00001866Phase 2
2Efficacy and Safety Study of Neramexane to Treat Congenital and Acquired NystagmusCompletedNCT00661440Phase 2
3Open-lable Extension Study on Safety and Efficacy of Neramexane to Treat Congenital and Acquired NystagmusTerminatedNCT00799942Phase 2
4Long-term Postoperative Outcomes After Bilateral Congenital Cataract Surgery in Eyes With MicrophthalmosCompletedNCT01818037
5Genetic Study of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal DystrophyCompletedNCT00422721
6Correlation of Gene Abnormalities and Clinical Manifestations of AniridiaCompletedNCT00265590
7Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
8Chromosome 18 Clinical Research CenterRecruitingNCT00227253
9Expanded Access Study Amifampridine Phosphate in Lambert-Eaton Myasthenic Syndrome (LEMS), Congenital Myasthenic Syndrome (CMS), or Downbeat Nystagmus PatientsAvailableNCT02189720

Search NIH Clinical Center for Congenital Nystagmus


Cochrane evidence based reviews: nystagmus, congenital

Genetic Tests for Congenital Nystagmus

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Genetic tests related to Congenital Nystagmus:

id Genetic test Affiliating Genes
1 Congenital Nystagmus27

Anatomical Context for Congenital Nystagmus

About this section

MalaCards organs/tissues related to Congenital Nystagmus:

36
Eye, Brain, Skin

Publications for Congenital Nystagmus

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Articles related to Congenital Nystagmus:

(show top 50)    (show all 269)
idTitleAuthorsYear
1
Congenital Nystagmus Gene FRMD7 Is Necessary for Establishing a Neuronal Circuit Asymmetry for Direction Selectivity. (26711119)
2016
2
A previously unidentified deletion in G protein-coupled receptor 143 causing X-linked congenital nystagmus in a Chinese family. (27958203)
2016
3
A novel nonsense mutation of GPR143 gene in a Korean kindred with X-linked congenital nystagmus. (27672609)
2016
4
A FRMD7 variant in a Japanese family causes congenital nystagmus. (27081518)
2015
5
GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus. (26160353)
2015
6
A novel mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a North Indian family. (25916882)
2015
7
Abnormal cone ERGs in a family with congenital nystagmus and photophobia harboring a p.X423Lfs mutation in the PAX6 gene. (25555363)
2015
8
Congenital nystagmus and central hypothyroidism. (25780367)
2015
9
Identification of Three Novel Mutations in the FRMD7 Gene for X-linked Idiopathic Congenital Nystagmus. (24434814)
2014
10
Astigmatism in patients with idiopathic congenital nystagmus. (23456100)
2013
11
Congenital nystagmus in two infants born from mothers exposed to methadone during pregnancy. (23822191)
2013
12
A novel missense mutation in the FERM domain containing 7 (FRMD7) gene causing X-linked idiopathic congenital nystagmus in a Chinese family. (23946638)
2013
13
Novel mutation c.980_983delATTA compound with c.986C>A mutation of the FRMD7 gene in a Chinese family with X-linked idiopathic congenital nystagmus. (23733424)
2013
14
Identifcation of a novel mutation p.I240T in the FRMD7 gene in a family with congenital nystagmus. (24169426)
2013
15
Is it possible to measure peripheral vestibular function in a patient with congenital nystagmus? (21898086)
2012
16
Components of the neural signal underlying congenital nystagmus. (22644237)
2012
17
A novel splicing mutation of the FRMD7 gene in a Chinese family with X-linked congenital nystagmus. (22262942)
2012
18
A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus. (21423867)
2011
19
Cerebellar and visual gray matter brain volume increases in congenital nystagmus. (21994501)
2011
20
Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism. (21541274)
2011
21
Spectral-domain optical coherence tomography in patients with congenital nystagmus. (22553733)
2011
22
Congenital nystagmus and negative electroretinography. (21573087)
2011
23
A novel frame-shift mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a Chinese family. (22065930)
2011
24
Effects of visual processing and congenital nystagmus on visually guided ocular motor behaviour. (21166674)
2011
25
Artiflex toric phakic intraocular lens implantation in congenital nystagmus. (21941505)
2011
26
Waveform type evaluation in congenital nystagmus. (20356647)
2010
27
Visual electrophysiology in congenital nystagmus with normal fundus. (19253798)
2009
28
A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus. (19390656)
2009
29
A novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family. (18246032)
2008
30
Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus. (18523664)
2008
31
A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital nystagmus. (19072571)
2008
32
Reduction of congenital nystagmus in a patient after smoking cannabis. (18306120)
2008
33
Effect of horizontal rectus surgery on clinical and paraclinical indices in congenital nystagmus. (23479515)
2008
34
Novel mutations in FRMD7 in X-linked congenital nystagmus. (17397053)
2007
35
Memantine/Gabapentin for the treatment of congenital nystagmus. (17764629)
2007
36
Isolated absence of the optic chiasm: a rare cause of congenital nystagmus. (17297021)
2007
37
Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation. (17516023)
2007
38
Laser ablation in eyes with congenital nystagmus. (17598584)
2007
39
Clinical and Oculographic Findings of X-linked Congenital Nystagmus in Three Korean Families. (19513281)
2007
40
Congenital nystagmus: randomized, controlled, double-masked trial of memantine/gabapentin. (17279539)
2007
41
Visual and perceptual consequences of congenital nystagmus. (16702076)
2006
42
Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC. (16754205)
2006
43
Beating the beat: reading can be faster than the frequency of eye movements in persons with congenital nystagmus. (16909075)
2006
44
Changes in astigmatism in children with congenital nystagmus. (16362319)
2006
45
Oculomotor instabilities in zebrafish mutant belladonna: a behavioral model for congenital nystagmus caused by axonal misrouting. (17005851)
2006
46
Laser in situ keratomileusis in myopic patients with congenital nystagmus. (16631059)
2006
47
The effects of gabapentin and memantine in acquired and congenital nystagmus: a retrospective study. (16556621)
2006
48
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. (17013395)
2006
49
Nonlinear time series analysis of jerk congenital nystagmus. (16732490)
2006
50
The effects of increased visual task demand on foveation in congenital nystagmus. (15707922)
2005

Variations for Congenital Nystagmus

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Expression for genes affiliated with Congenital Nystagmus

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Search GEO for disease gene expression data for Congenital Nystagmus.

Pathways for genes affiliated with Congenital Nystagmus

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GO Terms for genes affiliated with Congenital Nystagmus

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

idNameGO IDScoreTop Affiliating Genes
1melanosome membraneGO:00331629.3GPR143, OCA2, TYR

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

idNameGO IDScoreTop Affiliating Genes
1response to cAMPGO:005159110.1CNGA3, TYR
2eye pigment biosynthetic processGO:00067269.9GPR143, OCA2, TYR
3melanin biosynthetic processGO:00424389.7MC1R, OCA2, TYR
4pigmentationGO:00434739.7MC1R, OCA2, TYR
5visual perceptionGO:00076018.8CNGA3, GPR143, PAX6, TYR

Sources for Congenital Nystagmus

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet