NYS3
MCID: NYS004
MIFTS: 15

Nystagmus 3, Congenital, Autosomal Dominant (NYS3)

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Nystagmus 3, Congenital, Autosomal Dominant

MalaCards integrated aliases for Nystagmus 3, Congenital, Autosomal Dominant:

Name: Nystagmus 3, Congenital, Autosomal Dominant 57 53 73
Nys3 57 53

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
intrafamilial phenotypic variation may occur
genetic heterogeneity (see, e.g., nys1 )


HPO:

32
nystagmus 3, congenital, autosomal dominant:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 608345
MedGen 42 C1842186
SNOMED-CT via HPO 69 263681008
UMLS 73 C1842186

Summaries for Nystagmus 3, Congenital, Autosomal Dominant

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). (608345)

MalaCards based summary : Nystagmus 3, Congenital, Autosomal Dominant, also known as nys3, is related to perrault syndrome 1. An important gene associated with Nystagmus 3, Congenital, Autosomal Dominant is NYS3 (Nystagmus 3, Congenital Autosomal Dominant). Affiliated tissues include eye and brain, and related phenotype is horizontal jerk nystagmus.

Related Diseases for Nystagmus 3, 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 3, Congenital, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 perrault syndrome 1 11.1

Symptoms & Phenotypes for Nystagmus 3, Congenital, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
nystagmus, jerky, horizontal, congenital

Neurologic Central Nervous System:
nystagmus, jerky, horizontal, congenital
small rotary component may be present
frequency 3.5 hz in midline
frequency 6 hz in lateral gaze
jerking may be unidirectional, periodically alternating, or mixed pendular and jerk-like
more

Clinical features from OMIM:

608345

Human phenotypes related to Nystagmus 3, Congenital, Autosomal Dominant:

32
# Description HPO Frequency HPO Source Accession
1 horizontal jerk nystagmus 32 HP:0007286

Drugs & Therapeutics for Nystagmus 3, Congenital, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Nystagmus 3, Congenital, Autosomal Dominant

Genetic Tests for Nystagmus 3, Congenital, Autosomal Dominant

Anatomical Context for Nystagmus 3, Congenital, Autosomal Dominant

MalaCards organs/tissues related to Nystagmus 3, Congenital, Autosomal Dominant:

41
Eye, Brain

Publications for Nystagmus 3, Congenital, Autosomal Dominant

Variations for Nystagmus 3, Congenital, Autosomal Dominant

Expression for Nystagmus 3, Congenital, Autosomal Dominant

Search GEO for disease gene expression data for Nystagmus 3, Congenital, Autosomal Dominant.

Pathways for Nystagmus 3, Congenital, Autosomal Dominant

GO Terms for Nystagmus 3, Congenital, Autosomal Dominant

Sources for Nystagmus 3, Congenital, Autosomal Dominant

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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