NYS5
MCID: NYS012
MIFTS: 17

Nystagmus 5, Congenital, X-Linked (NYS5)

Categories: Eye diseases, Genetic 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 58 13
Nystagmus 5, Infantile Periodic Alternating 74
Nys5 58

Characteristics:

OMIM:

58
Inheritance:
x-linked dominant

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


HPO:

33
nystagmus 5, congenital, x-linked:
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

OMIM 58 300589
MedGen 43 C1845116
UMLS 74 C1845116

Summaries for Nystagmus 5, Congenital, X-Linked

OMIM : 58 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)

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

Related Diseases for Nystagmus 5, 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 5, Congenital, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 x-linked infantile nystagmus 11.1

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

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

33
# Description HPO Frequency HPO Source Accession
1 nystagmus 33 HP:0000639
2 strabismus 33 HP:0000486
3 hyperopic astigmatism 33 HP:0000484
4 abnormal stereopsis 33 HP:0011515

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
Eye, Brain

Publications for Nystagmus 5, Congenital, X-Linked

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

Sources for Nystagmus 5, Congenital, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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