NYS4
MCID: NYS005
MIFTS: 16

Nystagmus 4, Congenital, Autosomal Dominant (NYS4)

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Nystagmus 4, Congenital, Autosomal Dominant

MalaCards integrated aliases for Nystagmus 4, Congenital, Autosomal Dominant:

Name: Nystagmus 4, Congenital, Autosomal Dominant 58 54 74
Vestibulocerebellar Disorder with Predominant Ocular Signs 58 54
Nys4 58 54

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
nonprogressive
onset within first 2 years


HPO:

33
nystagmus 4, congenital, autosomal dominant:
Onset and clinical course nonprogressive
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 193003
MedGen 43 C1860433
UMLS 74 C1860433

Summaries for Nystagmus 4, Congenital, Autosomal Dominant

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). (193003)

MalaCards based summary : Nystagmus 4, Congenital, Autosomal Dominant, also known as vestibulocerebellar disorder with predominant ocular signs, is related to cone-rod dystrophy and hearing loss 2. An important gene associated with Nystagmus 4, Congenital, Autosomal Dominant is NYS4 (Nystagmus 4, Congenital Autosomal Dominant). Affiliated tissues include eye and brain, and related phenotypes are strabismus and abnormal vestibulo-ocular reflex

Related Diseases for Nystagmus 4, Congenital, Autosomal Dominant

Diseases in the Congenital Nystagmus family:

Nystagmus 2, Congenital, Autosomal Dominant Nystagmus 4, Congenital, Autosomal Dominant
Nystagmus, Congenital, Autosomal Recessive Nystagmus 3, Congenital, Autosomal Dominant
Nystagmus 7, Congenital, Autosomal Dominant Frmd7-Related Infantile Nystagmus

Diseases related to Nystagmus 4, Congenital, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy and hearing loss 2 11.1

Symptoms & Phenotypes for Nystagmus 4, Congenital, Autosomal Dominant

Human phenotypes related to Nystagmus 4, Congenital, Autosomal Dominant:

33
# Description HPO Frequency HPO Source Accession
1 strabismus 33 HP:0000486
2 abnormal vestibulo-ocular reflex 33 HP:0007670
3 gaze-evoked nystagmus 33 HP:0000640
4 absent smooth pursuit 33 HP:0007179
5 upbeat nystagmus 33 HP:0011477

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
nystagmus
strabismus

Neurologic Central Nervous System:
gaze-evoked nystagmus
poor vestibuloocular reflex
upbeat nystagmus
poor or absent smooth pursuit
dizziness may occur
more

Clinical features from OMIM:

193003

Drugs & Therapeutics for Nystagmus 4, Congenital, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Nystagmus 4, Congenital, Autosomal Dominant

Genetic Tests for Nystagmus 4, Congenital, Autosomal Dominant

Anatomical Context for Nystagmus 4, Congenital, Autosomal Dominant

MalaCards organs/tissues related to Nystagmus 4, Congenital, Autosomal Dominant:

42
Eye, Brain

Publications for Nystagmus 4, Congenital, Autosomal Dominant

Variations for Nystagmus 4, Congenital, Autosomal Dominant

Expression for Nystagmus 4, Congenital, Autosomal Dominant

Search GEO for disease gene expression data for Nystagmus 4, Congenital, Autosomal Dominant.

Pathways for Nystagmus 4, Congenital, Autosomal Dominant

GO Terms for Nystagmus 4, Congenital, Autosomal Dominant

Sources for Nystagmus 4, Congenital, Autosomal Dominant

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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