NYS1
MCID: NYS017
MIFTS: 25

Nystagmus 1, Congenital, X-Linked (NYS1)

Categories: Eye diseases, Genetic 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 53 75
Nystagmus, Infantile Periodic Alternating, X-Linked 57 73
Nystagmus 1, Congenital, X- Linked 53 73
Nystagmus, Congenital Motor, 1 57 53
Nystagmus, Infantile Idiopathic, Formerly; Iin, Formerly 57
Nystagmus Infantile Periodic Alternating X-Linked 75
Nystagmus, Infantile Idiopathic, Formerly 57
Nystagmus, Type 1, Congenital, X-Linked 40
Nystagmus 1, Infantile, X-Linked 57
Nystagmus Congenital X-Linked 1 75
Nystagmus 1 Infantile X-Linked 75
Nystagmus Infantile Idiopathic 75
Nystagmus Congenital Motor 1 75
Iin, Formerly 57
Xipan 75
Xlpan 75

Characteristics:

OMIM:

57
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:

32
nystagmus 1, congenital, x-linked:
Onset and clinical course infantile onset
Inheritance heterogeneous x-linked dominant inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 57 310700
MeSH 44 D020417

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)

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 brain, and related phenotypes are reduced visual acuity and horizontal nystagmus

UniProtKB/Swiss-Prot : 75 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 X-Linked Infantile Nystagmus family:

Nystagmus 5, Congenital, X-Linked Nystagmus 6, Congenital, X-Linked
Nystagmus 1, Congenital, X-Linked

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

# Related Disease Score Top Affiliating Genes
1 frmd7-related infantile nystagmus 11.4
2 x-linked infantile nystagmus 11.4
3 nystagmus 2, congenital, autosomal dominant 11.0
4 nystagmus 4, congenital, autosomal dominant 11.0
5 nystagmus 5, congenital, x-linked 11.0
6 nystagmus 6, congenital, x-linked 11.0
7 nystagmus 3, congenital, autosomal dominant 11.0
8 nystagmus 7, congenital, autosomal dominant 11.0
9 congenital nystagmus 10.3

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 32 HP:0007663
2 horizontal nystagmus 32 HP:0000666
3 congenital nystagmus 32 HP:0006934
4 pendular nystagmus 32 HP:0012043

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:

41
Eye, Brain

Publications for Nystagmus 1, Congenital, X-Linked

Variations for Nystagmus 1, Congenital, X-Linked

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

75 (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
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

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

6 (show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 FRMD7 NM_194277.2(FRMD7): c.601C> T (p.Gln201Ter) single nucleotide variant Pathogenic rs137852207 GRCh37 Chromosome X, 131219653: 131219653
2 FRMD7 NM_194277.2(FRMD7): c.601C> T (p.Gln201Ter) single nucleotide variant Pathogenic rs137852207 GRCh38 Chromosome X, 132085625: 132085625
3 FRMD7 NM_194277.2(FRMD7): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic rs137852208 GRCh37 Chromosome X, 131214081: 131214081
4 FRMD7 NM_194277.2(FRMD7): c.1003C> T (p.Arg335Ter) single nucleotide variant Pathogenic rs137852208 GRCh38 Chromosome X, 132080053: 132080053
5 FRMD7 FRMD7, IVS3DS, T-G, +2 single nucleotide variant Pathogenic
6 FRMD7 NM_194277.2(FRMD7): c.252G> A (p.Val84=) single nucleotide variant Pathogenic rs137852209 GRCh37 Chromosome X, 131231326: 131231326
7 FRMD7 NM_194277.2(FRMD7): c.252G> A (p.Val84=) single nucleotide variant Pathogenic rs137852209 GRCh38 Chromosome X, 132097298: 132097298
8 FRMD7 NM_194277.2(FRMD7): c.70G> A (p.Gly24Arg) single nucleotide variant Pathogenic rs137852210 GRCh37 Chromosome X, 131234732: 131234732
9 FRMD7 NM_194277.2(FRMD7): c.70G> A (p.Gly24Arg) single nucleotide variant Pathogenic rs137852210 GRCh38 Chromosome X, 132100704: 132100704
10 FRMD7 FRMD7, 3-BP DEL, 41AGA deletion Pathogenic
11 FRMD7 NM_194277.2(FRMD7): c.425T> G (p.Leu142Arg) single nucleotide variant Pathogenic rs137852211 GRCh37 Chromosome X, 131220020: 131220020
12 FRMD7 NM_194277.2(FRMD7): c.425T> G (p.Leu142Arg) single nucleotide variant Pathogenic rs137852211 GRCh38 Chromosome X, 132085992: 132085992
13 FRMD7 NM_194277.2(FRMD7): c.685C> G (p.Arg229Gly) single nucleotide variant Pathogenic rs137852212 GRCh37 Chromosome X, 131218574: 131218574
14 FRMD7 NM_194277.2(FRMD7): c.685C> G (p.Arg229Gly) single nucleotide variant Pathogenic rs137852212 GRCh38 Chromosome X, 132084546: 132084546
15 FRMD7 FRMD7, 2-BP DEL, 1274TG deletion Pathogenic
16 FRMD7 NM_194277.2(FRMD7): c.691T> G (p.Leu231Val) single nucleotide variant Pathogenic rs387906720 GRCh37 Chromosome X, 131218568: 131218568
17 FRMD7 NM_194277.2(FRMD7): c.691T> G (p.Leu231Val) single nucleotide variant Pathogenic rs387906720 GRCh38 Chromosome X, 132084540: 132084540
18 FRMD7 NM_194277.2(FRMD7): c.812G> A (p.Cys271Tyr) single nucleotide variant Pathogenic rs387906721 GRCh37 Chromosome X, 131216484: 131216484
19 FRMD7 NM_194277.2(FRMD7): c.812G> A (p.Cys271Tyr) single nucleotide variant Pathogenic rs387906721 GRCh38 Chromosome X, 132082456: 132082456
20 FRMD7 FRMD7, IVS11, G-A, +5 single nucleotide variant Pathogenic
21 FRMD7 NM_194277.2(FRMD7): c.556A> G (p.Met186Val) single nucleotide variant Pathogenic rs786205896 GRCh37 Chromosome X, 131219698: 131219698
22 FRMD7 NM_194277.2(FRMD7): c.556A> G (p.Met186Val) single nucleotide variant Pathogenic rs786205896 GRCh38 Chromosome X, 132085670: 132085670

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

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