NYS1
MCID: NYS017
MIFTS: 31

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 56 13
Nys1 56 52 73
Nystagmus, Infantile Periodic Alternating, X-Linked 56 71
Nystagmus 1, Congenital, X- Linked 52 71
Nystagmus, Congenital Motor, 1 56 52
Nystagmus, Infantile Idiopathic, Formerly; Iin, Formerly 56
Nystagmus Infantile Periodic Alternating X-Linked 73
Nystagmus, Infantile Idiopathic, Formerly 56
Nystagmus, Type 1, Congenital, X-Linked 39
Nystagmus 1, Infantile, X-Linked 56
Nystagmus Congenital X-Linked 1 73
Nystagmus 1 Infantile X-Linked 73
Nystagmus Infantile Idiopathic 73
Nystagmus Congenital Motor 1 73
Iin, Formerly 56
Xipan 73
Xlpan 73

Characteristics:

OMIM:

56
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 56 310700
OMIM Phenotypic Series 56 PS310700
MeSH 43 D020417
UMLS 71 C1839580 C3151880

Summaries for Nystagmus 1, Congenital, X-Linked

OMIM : 56 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)

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

UniProtKB/Swiss-Prot : 73 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

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:

56
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

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, Brain, Testes

Publications for Nystagmus 1, Congenital, X-Linked

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

(show all 35)
# Title Authors PMID Year
1
The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus. 61 6 56
21303855 2011
2
Prolonged pursuit by optokinetic drum testing in asymptomatic female carriers of novel FRMD7 splice mutation c.1050 +5 G>A. 6 56
21746984 2011
3
A novel frameshift mutation in FRMD7 causing X-linked idiopathic congenital nystagmus. 6 56
19072571 2008
4
Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene. 56 6
17962394 2008
5
X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7. 6 56
18087240 2007
6
FRMD7 mutations in Chinese families with X-linked congenital motor nystagmus. 6 56
17768376 2007
7
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. 6 56
17013395 2006
8
Linkage analysis of two families with X-linked recessive congenital motor nystagmus. 56 6
16240070 2006
9
X-linked infantile periodic alternating nystagmus. 56 6
16020310 2005
10
Clinical and genetic analysis of a family with X-linked congenital nystagmus (NYS1). 56 61
11803490 2001
11
A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3. 56 61
10090899 1999
12
FRMD7-Related Infantile Nystagmus 6
20301748 2009
13
Phenotypical characteristics of idiopathic infantile nystagmus with and without mutations in FRMD7. 56
18372314 2008
14
Clinical and Oculographic Findings of X-linked Congenital Nystagmus in Three Korean Families. 56
19513281 2007
15
Clinical characterization and linkage analysis of a family with congenital X-linked nystagmus and deuteranomaly. 56
10604668 1999
16
Congenital motor nystagmus linked to Xq26-q27. 56
9973299 1999
17
Ocular and vision defects in preschool children. 56
8494859 1993
18
X-linked nystagmus and 45,X/46,XX mosaicism. 56
1463522 1992
19
Congenital nystagmus in a (46,XX/45,X) mosaic woman from a family with X-linked congenital nystagmus. 56
2063919 1991
20
[A review of the hereditary extraocular nystagmus]. 56
13137898 1953
21
Sex-linked nystagmus associated with red-green color-blindness. 56
17948382 1949
22
[Not Available]. 56
18152819 1949
23
Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus. 61
22490987 2012
24
Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online. 61
17397053 2007
25
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
26
Monoclonal, but not polyclonal, antibodies protect against Plasmodium yoelii sporozoites. 61
1988490 1991
27
Active and passive immunization against Plasmodium yoelii sporozoites. 61
1709834 1990
28
Localization of CS and non-CS antigens in the sporogonic stages of Plasmodium yoelii. 61
2094581 1990
29
Evaluation of an in vitro assay aimed at measuring protective antibodies against sporozoites. 61
2094592 1990
30
[Genetic mapping of the NYS1 gene in Saccharomyces cerevisiae]. 61
2689284 1989
31
[Yeast resistance to polyene antibiotics. VII. The interaction of the mutant alleles of the nystatin resistance genes in Saccharomyces cerevisiae]. 61
3060398 1988
32
[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
33
Characterization of Plasmodium yoelii monoclonal antibodies directed against stage-specific sporozoite antigens. 61
2434426 1987
34
[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
35
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 54) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FRMD7 NM_194277.2(FRMD7):c.601C>T (p.Gln201Ter)SNV Pathogenic 10782 rs137852207 X:131219653-131219653 X:132085625-132085625
2 FRMD7 NM_194277.2(FRMD7):c.1003C>T (p.Arg335Ter)SNV Pathogenic 10783 rs137852208 X:131214081-131214081 X:132080053-132080053
3 FRMD7 FRMD7, IVS3DS, T-G, +2SNV Pathogenic 10784
4 FRMD7 NM_194277.2(FRMD7):c.252G>A (p.Val84=)SNV Pathogenic 10785 rs137852209 X:131231326-131231326 X:132097298-132097298
5 FRMD7 NM_194277.2(FRMD7):c.70G>A (p.Gly24Arg)SNV Pathogenic 10786 rs137852210 X:131234732-131234732 X:132100704-132100704
6 FRMD7 FRMD7, 3-BP DEL, 41AGAdeletion Pathogenic 10787
7 FRMD7 NM_194277.2(FRMD7):c.425T>G (p.Leu142Arg)SNV Pathogenic 10788 rs137852211 X:131220020-131220020 X:132085992-132085992
8 FRMD7 NM_194277.2(FRMD7):c.685C>G (p.Arg229Gly)SNV Pathogenic 10789 rs137852212 X:131218574-131218574 X:132084546-132084546
9 FRMD7 FRMD7, 2-BP DEL, 1274TGdeletion Pathogenic 10790
10 FRMD7 NM_194277.2(FRMD7):c.691T>G (p.Leu231Val)SNV Pathogenic 29976 rs387906720 X:131218568-131218568 X:132084540-132084540
11 FRMD7 NM_194277.2(FRMD7):c.812G>A (p.Cys271Tyr)SNV Pathogenic 29977 rs387906721 X:131216484-131216484 X:132082456-132082456
12 FRMD7 NM_194277.2(FRMD7):c.1050+5G>ASNV Pathogenic 29978 X:131214029-131214029 X:132080001-132080001
13 FRMD7 NM_194277.2(FRMD7):c.556A>G (p.Met186Val)SNV Pathogenic 192295 rs786205896 X:131219698-131219698 X:132085670-132085670
14 subset of 11 genes: FRMD7 , GPC3 GRCh37/hg19 Xq26.1-26.2(chrX:130280298-132670366)copy number loss Pathogenic 625800 X:130280298-132670366
15 FRMD7 NM_194277.2(FRMD7):c.1588C>T (p.Pro530Ser)SNV Conflicting interpretations of pathogenicity 712417 X:131212457-131212457 X:132078429-132078429
16 FRMD7 NM_194277.2(FRMD7):c.285-3C>TSNV Conflicting interpretations of pathogenicity 731482 X:131228170-131228170 X:132094142-132094142
17 FRMD7 NM_001306193.1(FRMD7):c.1754G>A (p.Arg585His)SNV Uncertain significance 912925 X:131212246-131212246 X:132078218-132078218
18 FRMD7 NM_194277.2(FRMD7):c.-102G>ASNV Uncertain significance 367915 rs1057515773 X:131261974-131261974 X:132127946-132127946
19 FRMD7 NM_001306193.1(FRMD7):c.*300T>CSNV Uncertain significance 912924 X:131211600-131211600 X:132077572-132077572
20 FRMD7 NM_001306193.1(FRMD7):c.1601T>A (p.Val534Glu)SNV Uncertain significance 912926 X:131212399-131212399 X:132078371-132078371
21 FRMD7 NM_001306193.1(FRMD7):c.1436A>G (p.Gln479Arg)SNV Uncertain significance 913295 X:131212564-131212564 X:132078536-132078536
22 FRMD7 NM_001306193.1(FRMD7):c.1155G>A (p.Ala385=)SNV Uncertain significance 913296 X:131212845-131212845 X:132078817-132078817
23 FRMD7 NM_001306193.1(FRMD7):c.947A>G (p.Gln316Arg)SNV Uncertain significance 914408 X:131214092-131214092 X:132080064-132080064
24 FRMD7 NM_001306193.1(FRMD7):c.673A>G (p.Ile225Val)SNV Uncertain significance 914409 X:131218541-131218541 X:132084513-132084513
25 FRMD7 NM_001306193.1(FRMD7):c.339A>G (p.Ser113=)SNV Uncertain significance 914410 X:131220061-131220061 X:132086033-132086033
26 FRMD7 NM_001306193.1(FRMD7):c.263A>C (p.Lys88Thr)SNV Uncertain significance 914921 X:131228144-131228144 X:132094116-132094116
27 FRMD7 NM_001306193.1(FRMD7):c.157A>G (p.Asn53Asp)SNV Uncertain significance 914922 X:131234645-131234645 X:132100617-132100617
28 FRMD7 NM_194277.2(FRMD7):c.*600C>GSNV Uncertain significance 367901 rs750133372 X:131211300-131211300 X:132077272-132077272
29 FRMD7 NM_194277.2(FRMD7):c.*573G>TSNV Uncertain significance 367902 rs963218129 X:131211327-131211327 X:132077299-132077299
30 FRMD7 NM_194277.2(FRMD7):c.*196G>CSNV Uncertain significance 367906 rs1057515770 X:131211704-131211704 X:132077676-132077676
31 FRMD7 NM_194277.2(FRMD7):c.904A>C (p.Ser302Arg)SNV Uncertain significance 367909 rs1057515771 X:131216392-131216392 X:132082364-132082364
32 FRMD7 NM_194277.2(FRMD7):c.458G>A (p.Cys153Tyr)SNV Uncertain significance 367910 rs199857416 X:131219987-131219987 X:132085959-132085959
33 FRMD7 NM_194277.2(FRMD7):c.*293G>CSNV Uncertain significance 367904 rs1057515769 X:131211607-131211607 X:132077579-132077579
34 FRMD7 NM_194277.2(FRMD7):c.*285C>TSNV Uncertain significance 367905 rs766974170 X:131211615-131211615 X:132077587-132077587
35 FRMD7 NM_194277.2(FRMD7):c.1643A>C (p.Gln548Pro)SNV Uncertain significance 367907 rs776519156 X:131212402-131212402 X:132078374-132078374
36 FRMD7 NM_194277.2(FRMD7):c.-100G>TSNV Uncertain significance 367914 rs1057515772 X:131261972-131261972 X:132127944-132127944
37 FRMD7 NM_001306193.1(FRMD7):c.58-6G>ASNV Uncertain significance 914923 X:131234750-131234750 X:132100722-132100722
38 FRMD7 NM_194277.2(FRMD7):c.-14C>TSNV Likely benign 367913 rs200222913 X:131261886-131261886 X:132127858-132127858
39 FRMD7 NM_001306193.1(FRMD7):c.338-14T>CSNV Likely benign 914411 X:131220076-131220076 X:132086048-132086048
40 FRMD7 NM_001306193.1(FRMD7):c.*827T>ASNV Likely benign 914868 X:131211073-131211073 X:132077045-132077045
41 FRMD7 NM_001306193.1(FRMD7):c.*730A>GSNV Likely benign 914869 X:131211170-131211170 X:132077142-132077142
42 FRMD7 NM_001306193.1(FRMD7):c.*685T>CSNV Likely benign 914870 X:131211215-131211215 X:132077187-132077187
43 FRMD7 NM_194277.2(FRMD7):c.*665A>TSNV Benign 367900 rs3764771 X:131211235-131211235 X:132077207-132077207
44 FRMD7 NM_194277.2(FRMD7):c.1558C>G (p.His520Asp)SNV Benign 714968 X:131212487-131212487 X:132078459-132078459
45 FRMD7 NM_194277.2(FRMD7):c.1533T>C (p.Ile511=)SNV Benign 263088 rs5977623 X:131212512-131212512 X:132078484-132078484
46 FRMD7 NM_194277.2(FRMD7):c.1403G>A (p.Arg468His)SNV Benign 263087 rs6637934 X:131212642-131212642 X:132078614-132078614
47 FRMD7 NM_194277.2(FRMD7):c.1101T>C (p.Asn367=)SNV Benign 263086 rs7051368 X:131212944-131212944 X:132078916-132078916
48 FRMD7 NM_194277.2(FRMD7):c.842C>T (p.Ser281Leu)SNV Benign 263090 rs5977625 X:131216454-131216454 X:132082426-132082426
49 FRMD7 NM_194277.2(FRMD7):c.69C>T (p.Ser23=)SNV Benign 263089 rs5930546 X:131234733-131234733 X:132100705-132100705
50 FRMD7 NM_194277.2(FRMD7):c.*816G>ASNV Benign 367898 rs41312755 X:131211084-131211084 X:132077056-132077056

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

73 (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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....