NYS5
MCID: NYS012
MIFTS: 24

Nystagmus 5, Congenital, X-Linked (NYS5)

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

Aliases & Classifications for Nystagmus 5, Congenital, X-Linked

MalaCards integrated aliases for Nystagmus 5, Congenital, X-Linked:

Name: Nystagmus 5, Congenital, X-Linked 57 13
Congenital Nystagmus 5 12 15
Nys5 57 12
Nystagmus 5, Infantile Periodic Alternating 70
X-Linked Congenital Nystagmus 5 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
x-linked dominant

Miscellaneous:
clinically 'silent' nystagmus evident on eye movement recording in carrier females


HPO:

31
nystagmus 5, congenital, x-linked:
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111796
OMIM® 57 300589
OMIM Phenotypic Series 57 PS310700
MedGen 41 C1845116
UMLS 70 C1845116

Summaries for Nystagmus 5, 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). For a discussion of genetic heterogeneity of congenital nystagmus, see NYS1 (310700). (300589) (Updated 20-May-2021)

MalaCards based summary : Nystagmus 5, Congenital, X-Linked, also known as congenital nystagmus 5, is related to congenital nystagmus 1 and congenital nystagmus. An important gene associated with Nystagmus 5, Congenital, X-Linked is NYS5 (Nystagmus 5, Infantile Periodic Alternating). Affiliated tissues include eye, and related phenotypes are nystagmus and strabismus

Disease Ontology : 12 A congenital nystagmus that has material basis in hemizygous or heterozygous mutation in a region of chromosome Xp11.4.

Related Diseases for Nystagmus 5, Congenital, X-Linked

Graphical network of the top 20 diseases related to Nystagmus 5, Congenital, X-Linked:



Diseases related to Nystagmus 5, Congenital, X-Linked

Symptoms & Phenotypes for Nystagmus 5, Congenital, X-Linked

Human phenotypes related to Nystagmus 5, Congenital, X-Linked:

31
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 strabismus 31 HP:0000486
3 hyperopic astigmatism 31 HP:0000484
4 abnormal stereopsis 31 HP:0011515

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
strabismus
nystagmus, infantile
null point shifts every few seconds to minutes
stereopsis, limited to absent
refractive error (usually combined hyperopic astigmatism)
more
Neurologic Central Nervous System:
nystagmus, infantile
head oscillations

Clinical features from OMIM®:

300589 (Updated 20-May-2021)

Drugs & Therapeutics for Nystagmus 5, Congenital, X-Linked

Search Clinical Trials , NIH Clinical Center for Nystagmus 5, Congenital, X-Linked

Genetic Tests for Nystagmus 5, Congenital, X-Linked

Anatomical Context for Nystagmus 5, Congenital, X-Linked

MalaCards organs/tissues related to Nystagmus 5, Congenital, X-Linked:

40
Eye

Publications for Nystagmus 5, Congenital, X-Linked

Articles related to Nystagmus 5, Congenital, X-Linked:

# Title Authors PMID Year
1
X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7. 57
18087240 2007
2
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. 57
17013395 2006
3
A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3. 57
10090899 1999
4
Congenital motor nystagmus linked to Xq26-q27. 57
9973299 1999
5
The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus. 61
21303855 2011
6
Localization of CS and non-CS antigens in the sporogonic stages of Plasmodium yoelii. 61
2094581 1990
7
Characterization of Plasmodium yoelii monoclonal antibodies directed against stage-specific sporozoite antigens. 61
2434426 1987

Variations for Nystagmus 5, Congenital, X-Linked

Expression for Nystagmus 5, Congenital, X-Linked

Search GEO for disease gene expression data for Nystagmus 5, Congenital, X-Linked.

Pathways for Nystagmus 5, Congenital, X-Linked

GO Terms for Nystagmus 5, Congenital, X-Linked

Biological processes related to Nystagmus 5, Congenital, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 8.62 SIX6 GPR143

Sources for Nystagmus 5, Congenital, X-Linked

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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