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 57 13
Nystagmus 5, Infantile Periodic Alternating 73
Nys5 57

Characteristics:

OMIM:

57
Inheritance:
x-linked dominant

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


HPO:

32
nystagmus 5, congenital, x-linked:
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

OMIM 57 300589
MedGen 42 C1845116
UMLS 73 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)

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 nystagmus 32 HP:0000639
2 strabismus 32 HP:0000486
3 hyperopic astigmatism 32 HP:0000484
4 abnormal stereopsis 32 HP:0011515

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:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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