NYS1
MCID: NYS017
MIFTS: 29

Nystagmus 1, Congenital, X-Linked (NYS1)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Nystagmus 1, Congenital, X-Linked

MalaCards integrated aliases for Nystagmus 1, Congenital, X-Linked:

Name: Nystagmus 1, Congenital, X-Linked 57 13
Nys1 57 20 72
Nystagmus, Infantile Periodic Alternating, X-Linked 57 70
Nystagmus 1, Congenital, X- Linked 20 70
Nystagmus 1, Infantile, X-Linked 57 6
Nystagmus, Congenital Motor, 1 57 20
Nystagmus, Infantile Idiopathic, Formerly; Iin, Formerly 57
Nystagmus Infantile Periodic Alternating X-Linked 72
Nystagmus, Infantile Idiopathic, Formerly 57
Nystagmus, Type 1, Congenital, X-Linked 39
Nystagmus Congenital X-Linked 1 72
Nystagmus 1 Infantile X-Linked 72
Nystagmus Infantile Idiopathic 72
Nystagmus Congenital Motor 1 72
Iin, Formerly 57
Xipan 72
Xlpan 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
onset in infancy
genetic heterogeneity
incomplete penetrance in carrier females
incidence of 1 in 20,000
prevalence of 1 in 1,500

Inheritance:
x-linked


HPO:

31
nystagmus 1, congenital, x-linked:
Inheritance heterogeneous x-linked dominant inheritance x-linked recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

OMIM® 57 310700
OMIM Phenotypic Series 57 PS310700
MeSH 44 D020417
UMLS 70 C1839580 C3151880

Summaries for Nystagmus 1, Congenital, X-Linked

OMIM® : 57 Classic congenital or infantile nystagmus presents as conjugate, horizontal oscillations of the eyes, in primary or eccentric gaze, often with a preferred head turn or tilt. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding. Eye movement recordings reveal that infantile nystagmus is predominantly a horizontal jerk waveform, with a diagnostic accelerating velocity slow phase. However, pendular and triangular waveforms may also be present. The nystagmus may rarely be vertical. As these patients often have normal visual acuity, it is presumed that the nystagmus represents a primary defect in the parts of the brain responsible for ocular motor control; thus the disorder has sometimes been termed 'congenital motor nystagmus' (Tarpey et al., 2006; Shiels et al., 2007). Congenital nystagmus may also be a feature of other ocular diseases, such as albinism (see, e.g., OCA1A, 203100), achromatopsia (see, e.g., ACHM3, 262300), and Leber congenital amaurosis (see, e.g., LCA1, 204000). Congenital nystagmus is associated with at least 3 X-linked disorders: Nettleship-Falls ocular albinism (OA1; 300500), which maps to Xp22.3; complete congenital stationary night blindness (CSNB1; 310500), which maps to Xp11.4; and blue-cone monochromatism (CBBM; 303700), which maps to Xq28. (310700) (Updated 05-Apr-2021)

MalaCards based summary : Nystagmus 1, Congenital, X-Linked, also known as nys1, is related to frmd7-related infantile nystagmus and x-linked infantile nystagmus. An important gene associated with Nystagmus 1, Congenital, X-Linked is FRMD7 (FERM Domain Containing 7). Affiliated tissues include eye, and related phenotypes are reduced visual acuity and congenital nystagmus

UniProtKB/Swiss-Prot : 72 Nystagmus congenital X-linked 1: A condition defined as conjugated, spontaneous and involuntary ocular oscillations that appear at birth or during the first three months of life. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding.

Related Diseases for Nystagmus 1, Congenital, X-Linked

Diseases in the Nystagmus 6, Congenital, X-Linked family:

Nystagmus 5, Congenital, X-Linked Nystagmus 1, Congenital, X-Linked
X-Linked Infantile Nystagmus

Diseases related to Nystagmus 1, Congenital, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 frmd7-related infantile nystagmus 11.4
2 x-linked infantile nystagmus 11.4
3 congenital nystagmus 1 11.0
4 nystagmus 5, congenital, x-linked 10.9
5 nystagmus 2, congenital, autosomal dominant 10.9
6 nystagmus 4, congenital, autosomal dominant 10.9
7 nystagmus 6, congenital, x-linked 10.9
8 nystagmus 3, congenital, autosomal dominant 10.9
9 nystagmus 7, congenital, autosomal dominant 10.9
10 congenital nystagmus 10.1
11 pathologic nystagmus 10.1

Graphical network of the top 20 diseases related to Nystagmus 1, Congenital, X-Linked:



Diseases related to Nystagmus 1, Congenital, X-Linked

Symptoms & Phenotypes for Nystagmus 1, Congenital, X-Linked

Human phenotypes related to Nystagmus 1, Congenital, X-Linked:

31
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 31 HP:0007663
2 congenital nystagmus 31 HP:0006934
3 horizontal nystagmus 31 HP:0000666
4 mildly reduced visual acuity 31 HP:0032037
5 pendular nystagmus 31 HP:0012043

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
mildly reduced visual acuity
nystagmus, horizontal
nystagmus, pendular
clinically 'silent' nystagmus evident on eye movement recording (in carrier females)
nystagmus, jerky
more
Head And Neck Head:
head oscillations

Clinical features from OMIM®:

310700 (Updated 05-Apr-2021)

Drugs & Therapeutics for Nystagmus 1, Congenital, X-Linked

Search Clinical Trials , NIH Clinical Center for Nystagmus 1, Congenital, X-Linked

Genetic Tests for Nystagmus 1, Congenital, X-Linked

Anatomical Context for Nystagmus 1, Congenital, X-Linked

MalaCards organs/tissues related to Nystagmus 1, Congenital, X-Linked:

40
Eye

Publications for Nystagmus 1, Congenital, X-Linked

Articles related to Nystagmus 1, Congenital, X-Linked:

(show all 34)
# Title Authors PMID Year
1
The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus. 61 6 57
21303855 2011
2
Prolonged pursuit by optokinetic drum testing in asymptomatic female carriers of novel FRMD7 splice mutation c.1050 +5 G>A. 6 57
21746984 2011
3
A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital nystagmus. 6 57
19072571 2008
4
Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene. 6 57
17962394 2008
5
X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7. 6 57
18087240 2007
6
FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus. 6 57
17768376 2007
7
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. 6 57
17013395 2006
8
Linkage analysis of two families with X-linked recessive congenital motor nystagmus. 57 6
16240070 2006
9
X-linked infantile periodic alternating nystagmus. 57 6
16020310 2005
10
Clinical and genetic analysis of a family with X-linked congenital nystagmus (NYS1). 57 61
11803490 2001
11
A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3. 57 61
10090899 1999
12
Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7. 57
18372314 2008
13
Clinical and Oculographic Findings of X-linked Congenital Nystagmus in Three Korean Families. 57
19513281 2007
14
Clinical characterization and linkage analysis of a family with congenital X-linked nystagmus and deuteranomaly. 57
10604668 1999
15
Congenital motor nystagmus linked to Xq26-q27. 57
9973299 1999
16
Ocular and vision defects in preschool children. 57
8494859 1993
17
X-linked nystagmus and 45,X/46,XX mosaicism. 57
1463522 1992
18
Congenital nystagmus in a (46,XX/45,X) mosaic woman from a family with X-linked congenital nystagmus. 57
2063919 1991
19
[A review of the hereditary extraocular nystagmus]. 57
13137898 1953
20
Sex-linked nystagmus associated with red-green color-blindness. 57
17948382 1949
21
A family of nystagmics. 57
18152819 1949
22
Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus. 61
22490987 2012
23
Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online. 61
17397053 2007
24
Monoclonal antibodies of three different immunoglobulin G isotypes produced by immunization with a synthetic peptide or native protein protect mice against challenge with Plasmodium yoelii sporozoites. 61
8500885 1993
25
Monoclonal, but not polyclonal, antibodies protect against Plasmodium yoelii sporozoites. 61
1988490 1991
26
Active and passive immunization against Plasmodium yoelii sporozoites. 61
1709834 1990
27
Evaluation of an in vitro assay aimed at measuring protective antibodies against sporozoites. 61
2094592 1990
28
Localization of CS and non-CS antigens in the sporogonic stages of Plasmodium yoelii. 61
2094581 1990
29
[Genetic mapping of the NYS1 gene in Saccharomyces cerevisiae]. 61
2689284 1989
30
[Yeast resistance to polyene antibiotics. VII. The interaction of the mutant alleles of the nystatin resistance genes in Saccharomyces cerevisiae]. 61
3060398 1988
31
[Yeast resistance to polyene antibiotics. VI. Isolation and biochemical analysis of strains of Saccharomyces cerevisiae yeasts with mutations in the 2 nystatin-resistance genes]. 61
3281869 1988
32
Characterization of Plasmodium yoelii monoclonal antibodies directed against stage-specific sporozoite antigens. 61
2434426 1987
33
[Yeast resistance to polyene antibiotics. IV. A study of the inheritance of changes in the sterol composition of Saccharomyces cerevisiae yeasts caused by mutations of nystatin resistance]. 61
3899859 1985
34
Nystatin-resistant mutants of yeast: alterations in sterol content. 61
5122815 1971

Variations for Nystagmus 1, Congenital, X-Linked

ClinVar genetic disease variations for Nystagmus 1, Congenital, X-Linked:

6 (show top 50) (show all 55)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FRMD7 NM_194277.2(FRMD7):c.601C>T (p.Gln201Ter) SNV Pathogenic 10782 rs137852207 GRCh37: X:131219653-131219653
GRCh38: X:132085625-132085625
2 FRMD7 NM_194277.2(FRMD7):c.1003C>T (p.Arg335Ter) SNV Pathogenic 10783 rs137852208 GRCh37: X:131214081-131214081
GRCh38: X:132080053-132080053
3 FRMD7 NM_194277.2(FRMD7):c.252G>A (p.Val84=) SNV Pathogenic 10785 rs137852209 GRCh37: X:131231326-131231326
GRCh38: X:132097298-132097298
4 FRMD7 NM_194277.2(FRMD7):c.425T>G (p.Leu142Arg) SNV Pathogenic 10788 rs137852211 GRCh37: X:131220020-131220020
GRCh38: X:132085992-132085992
5 FRMD7 NM_194277.2(FRMD7):c.685C>G (p.Arg229Gly) SNV Pathogenic 10789 rs137852212 GRCh37: X:131218574-131218574
GRCh38: X:132084546-132084546
6 FRMD7 FRMD7, 2-BP DEL, 1274TG Deletion Pathogenic 10790 GRCh37:
GRCh38:
7 FRMD7 NM_194277.2(FRMD7):c.691T>G (p.Leu231Val) SNV Pathogenic 29976 rs387906720 GRCh37: X:131218568-131218568
GRCh38: X:132084540-132084540
8 FRMD7 NM_194277.2(FRMD7):c.812G>A (p.Cys271Tyr) SNV Pathogenic 29977 rs387906721 GRCh37: X:131216484-131216484
GRCh38: X:132082456-132082456
9 FRMD7 NM_194277.2(FRMD7):c.556A>G (p.Met186Val) SNV Pathogenic 192295 rs786205896 GRCh37: X:131219698-131219698
GRCh38: X:132085670-132085670
10 FRMD7 NM_194277.2(FRMD7):c.1050+5G>A SNV Pathogenic 29978 rs1602791884 GRCh37: X:131214029-131214029
GRCh38: X:132080001-132080001
11 FRMD7 NM_194277.2(FRMD7):c.70G>A (p.Gly24Arg) SNV Pathogenic 10786 rs137852210 GRCh37: X:131234732-131234732
GRCh38: X:132100704-132100704
12 FRMD7 NM_194277.3(FRMD7):c.38AGA[1] (p.Lys14del) Microsatellite Pathogenic 10787 GRCh37: X:131261830-131261832
GRCh38: X:132127802-132127804
13 overlap with 11 genes GRCh37/hg19 Xq26.1-26.2(chrX:130280298-132670366) copy number loss Pathogenic 625800 GRCh37: X:130280298-132670366
GRCh38:
14 FRMD7 NM_194277.3(FRMD7):c.205+2T>G SNV Pathogenic 10784 GRCh37: X:131233494-131233494
GRCh38: X:132099466-132099466
15 FRMD7 NM_194277.3(FRMD7):c.1050+1G>C SNV Likely pathogenic 976097 GRCh37: X:131214033-131214033
GRCh38: X:132080005-132080005
16 FRMD7 NM_194277.3(FRMD7):c.308A>C (p.Lys103Thr) SNV Uncertain significance 914921 GRCh37: X:131228144-131228144
GRCh38: X:132094116-132094116
17 FRMD7 NM_194277.3(FRMD7):c.157A>G (p.Asn53Asp) SNV Uncertain significance 914922 GRCh37: X:131234645-131234645
GRCh38: X:132100617-132100617
18 FRMD7 NM_194277.3(FRMD7):c.58-6G>A SNV Uncertain significance 914923 GRCh37: X:131234750-131234750
GRCh38: X:132100722-132100722
19 FRMD7 NM_194277.2(FRMD7):c.*196G>C SNV Uncertain significance 367906 rs1057515770 GRCh37: X:131211704-131211704
GRCh38: X:132077676-132077676
20 FRMD7 NM_194277.2(FRMD7):c.*293G>C SNV Uncertain significance 367904 rs1057515769 GRCh37: X:131211607-131211607
GRCh38: X:132077579-132077579
21 FRMD7 NM_194277.2(FRMD7):c.*600C>G SNV Uncertain significance 367901 rs750133372 GRCh37: X:131211300-131211300
GRCh38: X:132077272-132077272
22 FRMD7 NM_194277.2(FRMD7):c.1643A>C (p.Gln548Pro) SNV Uncertain significance 367907 rs776519156 GRCh37: X:131212402-131212402
GRCh38: X:132078374-132078374
23 FRMD7 NM_194277.2(FRMD7):c.-100G>T SNV Uncertain significance 367914 rs1057515772 GRCh37: X:131261972-131261972
GRCh38: X:132127944-132127944
24 FRMD7 NM_194277.2(FRMD7):c.*285C>T SNV Uncertain significance 367905 rs766974170 GRCh37: X:131211615-131211615
GRCh38: X:132077587-132077587
25 FRMD7 NM_194277.2(FRMD7):c.*573G>T SNV Uncertain significance 367902 rs963218129 GRCh37: X:131211327-131211327
GRCh38: X:132077299-132077299
26 FRMD7 NM_194277.2(FRMD7):c.458G>A (p.Cys153Tyr) SNV Uncertain significance 367910 rs199857416 GRCh37: X:131219987-131219987
GRCh38: X:132085959-132085959
27 FRMD7 NM_194277.2(FRMD7):c.904A>C (p.Ser302Arg) SNV Uncertain significance 367909 rs1057515771 GRCh37: X:131216392-131216392
GRCh38: X:132082364-132082364
28 FRMD7 NM_194277.2(FRMD7):c.-102G>A SNV Uncertain significance 367915 rs1057515773 GRCh37: X:131261974-131261974
GRCh38: X:132127946-132127946
29 FRMD7 NM_194277.2(FRMD7):c.1588C>T (p.Pro530Ser) SNV Uncertain significance 712417 rs200651852 GRCh37: X:131212457-131212457
GRCh38: X:132078429-132078429
30 FRMD7 NM_194277.2(FRMD7):c.285-3C>T SNV Uncertain significance 731482 rs750320516 GRCh37: X:131228170-131228170
GRCh38: X:132094142-132094142
31 FRMD7 NM_194277.3(FRMD7):c.*300T>C SNV Uncertain significance 912924 GRCh37: X:131211600-131211600
GRCh38: X:132077572-132077572
32 FRMD7 NM_194277.3(FRMD7):c.1799G>A (p.Arg600His) SNV Uncertain significance 912925 GRCh37: X:131212246-131212246
GRCh38: X:132078218-132078218
33 FRMD7 NM_194277.3(FRMD7):c.1646T>A (p.Val549Glu) SNV Uncertain significance 912926 GRCh37: X:131212399-131212399
GRCh38: X:132078371-132078371
34 FRMD7 NM_194277.3(FRMD7):c.1481A>G (p.Gln494Arg) SNV Uncertain significance 913295 GRCh37: X:131212564-131212564
GRCh38: X:132078536-132078536
35 FRMD7 NM_194277.3(FRMD7):c.1200G>A (p.Ala400=) SNV Uncertain significance 913296 GRCh37: X:131212845-131212845
GRCh38: X:132078817-132078817
36 FRMD7 NM_194277.3(FRMD7):c.992A>G (p.Gln331Arg) SNV Uncertain significance 914408 GRCh37: X:131214092-131214092
GRCh38: X:132080064-132080064
37 FRMD7 NM_194277.3(FRMD7):c.718A>G (p.Ile240Val) SNV Uncertain significance 914409 GRCh37: X:131218541-131218541
GRCh38: X:132084513-132084513
38 FRMD7 NM_194277.3(FRMD7):c.384A>G (p.Ser128=) SNV Uncertain significance 914410 GRCh37: X:131220061-131220061
GRCh38: X:132086033-132086033
39 FRMD7 NM_194277.3(FRMD7):c.383-14T>C SNV Likely benign 914411 GRCh37: X:131220076-131220076
GRCh38: X:132086048-132086048
40 FRMD7 NM_194277.3(FRMD7):c.*827T>A SNV Likely benign 914868 GRCh37: X:131211073-131211073
GRCh38: X:132077045-132077045
41 FRMD7 NM_194277.3(FRMD7):c.*730A>G SNV Likely benign 914869 GRCh37: X:131211170-131211170
GRCh38: X:132077142-132077142
42 FRMD7 NM_194277.3(FRMD7):c.*685T>C SNV Likely benign 914870 GRCh37: X:131211215-131211215
GRCh38: X:132077187-132077187
43 FRMD7 NM_194277.2(FRMD7):c.-14C>T SNV Likely benign 367913 rs200222913 GRCh37: X:131261886-131261886
GRCh38: X:132127858-132127858
44 FRMD7 NM_194277.2(FRMD7):c.1558C>G (p.His520Asp) SNV Benign 714968 rs61742429 GRCh37: X:131212487-131212487
GRCh38: X:132078459-132078459
45 FRMD7 NM_194277.2(FRMD7):c.284+10T>G SNV Benign 367912 rs6634867 GRCh37: X:131231284-131231284
GRCh38: X:132097256-132097256
46 FRMD7 NM_194277.2(FRMD7):c.1403G>A (p.Arg468His) SNV Benign 263087 rs6637934 GRCh37: X:131212642-131212642
GRCh38: X:132078614-132078614
47 FRMD7 NM_194277.2(FRMD7):c.1533T>C (p.Ile511=) SNV Benign 263088 rs5977623 GRCh37: X:131212512-131212512
GRCh38: X:132078484-132078484
48 FRMD7 NM_194277.2(FRMD7):c.1101T>C (p.Asn367=) SNV Benign 263086 rs7051368 GRCh37: X:131212944-131212944
GRCh38: X:132078916-132078916
49 FRMD7 NM_194277.2(FRMD7):c.69C>T (p.Ser23=) SNV Benign 263089 rs5930546 GRCh37: X:131234733-131234733
GRCh38: X:132100705-132100705
50 FRMD7 NM_194277.2(FRMD7):c.842C>T (p.Ser281Leu) SNV Benign 263090 rs5977625 GRCh37: X:131216454-131216454
GRCh38: X:132082426-132082426

UniProtKB/Swiss-Prot genetic disease variations for Nystagmus 1, Congenital, X-Linked:

72 (show all 25)
# Symbol AA change Variation ID SNP ID
1 FRMD7 p.Gly24Glu VAR_028951
2 FRMD7 p.Gly24Arg VAR_028952 rs137852210
3 FRMD7 p.Leu142Arg VAR_028953 rs137852211
4 FRMD7 p.Asn221Asp VAR_028954
5 FRMD7 p.Ala226Thr VAR_028955
6 FRMD7 p.Leu231Val VAR_028956 rs387906720
7 FRMD7 p.Ala266Pro VAR_028957
8 FRMD7 p.Cys271Tyr VAR_028958 rs387906721
9 FRMD7 p.Tyr301Cys VAR_028960 rs129748609
10 FRMD7 p.Ser340Leu VAR_028961
11 FRMD7 p.Gly24Trp VAR_062651
12 FRMD7 p.Arg146Trp VAR_062652 rs780995406
13 FRMD7 p.Trp225Gly VAR_062653
14 FRMD7 p.Arg229Cys VAR_062654 rs137852212
15 FRMD7 p.Arg229Gly VAR_062655 rs137852212
16 FRMD7 p.Arg261Gly VAR_062656
17 FRMD7 p.Arg261Gln VAR_062657 rs133248963
18 FRMD7 p.Cys271Phe VAR_062658 rs387906721
19 FRMD7 p.His275Pro VAR_062659
20 FRMD7 p.Gly296Arg VAR_062660
21 FRMD7 p.Phe16Ser VAR_072102
22 FRMD7 p.His208Arg VAR_072103
23 FRMD7 p.Leu212Pro VAR_072104
24 FRMD7 p.Cys271Ser VAR_072105
25 FRMD7 p.Gln306Arg VAR_072106

Expression for Nystagmus 1, Congenital, X-Linked

Search GEO for disease gene expression data for Nystagmus 1, Congenital, X-Linked.

Pathways for Nystagmus 1, Congenital, X-Linked

GO Terms for Nystagmus 1, Congenital, X-Linked

Sources for Nystagmus 1, Congenital, X-Linked

3 CDC
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