NYS3
MCID: NYS004
MIFTS: 24

Nystagmus 3, Congenital, Autosomal Dominant (NYS3)

Categories: Eye diseases, Genetic 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 20 13 70
Nys3 57 12 20
Congenital Nystagmus 3 12 15
Autosomal Dominant Congenital Nystagmus 3 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

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


HPO:

31
nystagmus 3, congenital, autosomal dominant:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:



External Ids:

Disease Ontology 12 DOID:0111793
OMIM® 57 608345
OMIM Phenotypic Series 57 PS310700
MedGen 41 C1842186
SNOMED-CT via HPO 68 263681008
UMLS 70 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) (Updated 20-May-2021)

MalaCards based summary : Nystagmus 3, Congenital, Autosomal Dominant, also known as nys3, is related to congenital nystagmus and x-linked infantile nystagmus. An important gene associated with Nystagmus 3, Congenital, Autosomal Dominant is NYS3 (Nystagmus 3, Congenital Autosomal Dominant). Affiliated tissues include eye, and related phenotype is horizontal jerk nystagmus.

Disease Ontology : 12 A congenital nystagmus that has material basis in heterozygous mutation in a region of chromosome 7p11.2.

Related Diseases for Nystagmus 3, Congenital, Autosomal Dominant

Graphical network of the top 20 diseases related to Nystagmus 3, Congenital, Autosomal Dominant:



Diseases related to Nystagmus 3, Congenital, Autosomal Dominant

Symptoms & Phenotypes for Nystagmus 3, Congenital, Autosomal Dominant

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

31
# Description HPO Frequency HPO Source Accession
1 horizontal jerk nystagmus 31 HP:0007286

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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:

40
Eye

Publications for Nystagmus 3, Congenital, Autosomal Dominant

Articles related to Nystagmus 3, Congenital, Autosomal Dominant:

(show all 14)
# 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
Exclusion of chromosome regions 6p12 and 15q11, but not chromosome region 7p11, in a German family with autosomal dominant congenital nystagmus. 57
9806847 1998
4
Congenital nystagmus cosegregating with a balanced 7;15 translocation. 57
8326501 1993
5
The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus. 61
21303855 2011
6
Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online. 61
17397053 2007
7
Localization of CS and non-CS antigens in the sporogonic stages of Plasmodium yoelii. 61
2094581 1990
8
[Resistance of yeasts to polyene antibiotics]. 61
2689285 1989
9
[Yeast resistance to polyene antibiotics. VII. The interaction of the mutant alleles of the nystatin resistance genes in Saccharomyces cerevisiae]. 61
3060398 1988
10
[Genetico-ecological aspects of the use of nystatin-resistant yeast mutants in the yeast-Drosophila system]. 61
3135243 1988
11
[Yeast resistance to polyene antibiotics. VI. Isolation and biochemical analysis of strains of Saccharomyces cerevisiae yeasts with mutations in the 2 nystatin-resistance genes]. 61
3281869 1988
12
Characterization of Plasmodium yoelii monoclonal antibodies directed against stage-specific sporozoite antigens. 61
2434426 1987
13
[Yeast resistance to polyene antibiotics. IV. A study of the inheritance of changes in the sterol composition of Saccharomyces cerevisiae yeasts caused by mutations of nystatin resistance]. 61
3899859 1985
14
Nystatin-resistant mutants of yeast: alterations in sterol content. 61
5122815 1971

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

Molecular functions related to Nystagmus 3, Congenital, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeletal protein binding GO:0008092 8.62 FARP1 EPB41

Sources for Nystagmus 3, Congenital, Autosomal Dominant

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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