NYS2
MCID: NYS003
MIFTS: 31

Nystagmus 2, Congenital, Autosomal Dominant (NYS2)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Nystagmus 2, Congenital, Autosomal Dominant

MalaCards integrated aliases for Nystagmus 2, Congenital, Autosomal Dominant:

Name: Nystagmus 2, Congenital, Autosomal Dominant 57 20 70
Nys2 57 12 20
Congenital Nystagmus 2 12 15
Autosomal Dominant Congenital Nystagmus 2 12
Nystagmus, Congenital Motor, 2 57
Nystagmus Congenital, Motor 2 20
Congenital Motor Nystagmus 2 12

Characteristics:

OMIM®:

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

Miscellaneous:
onset in infancy
genetic heterogeneity


HPO:

31
nystagmus 2, congenital, autosomal dominant:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111792
OMIM® 57 164100
OMIM Phenotypic Series 57 PS310700
MedGen 41 C1834079
UMLS 70 C1834079

Summaries for Nystagmus 2, 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). (164100) (Updated 20-May-2021)

MalaCards based summary : Nystagmus 2, Congenital, Autosomal Dominant, also known as nys2, is related to congenital nystagmus and spasmus nutans. An important gene associated with Nystagmus 2, Congenital, Autosomal Dominant is NYS2 (Nystagmus 2, Congenital Autosomal Dominant), and among its related pathways/superpathways is Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include eye, and related phenotypes are visual impairment and strabismus

Disease Ontology : 12 A congenital nystagmus that has material basis in heterozygous mutation in a region of chromosome 6p12.

Related Diseases for Nystagmus 2, 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 Congenital Nystagmus 1
Frmd7-Related Infantile Nystagmus

Diseases related to Nystagmus 2, Congenital, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)
# Related Disease Score Top Affiliating Genes
1 congenital nystagmus 30.7 TYR SLC38A8 PAX6 NYS2 GPR143 FRMD7
2 spasmus nutans 10.9
3 x-linked infantile nystagmus 10.3 GPR143 FRMD7
4 coloboma of eyelid 10.3 PAX6 ABCB6
5 developmental defect of the eye 10.3 SLC38A8 PAX6
6 coloboma of eye lens 10.3 PAX6 ABCB6
7 isolated foveal hypoplasia 10.3 SLC38A8 PAX6
8 albinism, oculocutaneous, type v 10.2 TYR GPR143
9 albinism, oculocutaneous, type ib 10.2 TYR GPR143
10 albinism, oculocutaneous, type ia 10.2 TYR GPR143
11 albinism, oculocutaneous, type vii 10.1 TYR GPR143
12 albinism, oculocutaneous, type iv 10.1 TYR GPR143
13 aniridia 1 10.1 SLC38A8 PAX6 FRMD7
14 nystagmus 5, congenital, x-linked 10.1 SIX6 GPR143 FRMD7 ABCB6
15 optic nerve hypoplasia, bilateral 10.1 SIX6 PAX6 ABCA4
16 ocular albinism 10.1 TYR GPR143 FRMD7
17 nonsyndromic retinitis pigmentosa 10.1 BBS2 ABCA4
18 sclerocornea 10.1 SIX6 PAX6
19 glaucoma, primary open angle 10.1 SIX6 PAX6 ABCA4
20 congenital nystagmus 1 10.0 SYS1 GPR143 FRMD7 EPB41
21 ocular motility disease 10.0 SLC38A8 PAX6 GPR143 FRMD7
22 anterior segment dysgenesis 10.0 SLC38A8 SIX6 PAX6
23 isolated macular dystrophy 9.9 PROM1 ABCA4
24 strabismus 9.9 TYR PAX6 GPR143 FRMD7
25 coloboma of macula 9.9 SIX6 PAX6 ABCB6
26 achromatopsia 9.9 SLC38A8 PAX6 GPR143 FRMD7 ABCA4
27 albinism, oculocutaneous, type iii 9.9 TYR GPR143
28 developmental and epileptic encephalopathy 5 9.8 PLEK EPB41
29 spinocerebellar ataxia 5 9.8 PLEK EPB41
30 nystagmus 3, congenital, autosomal dominant 9.5 SYS1 SLC38A8 SIX6 GPR143 FRMD7 FARP1
31 leber plus disease 9.4 SLC38A8 PROM1 PAX6 BBS2 ABCA4
32 fundus dystrophy 9.3 SIX6 PROM1 PAX6 FRMD7 BBS2 ABCA4
33 pathologic nystagmus 9.1 TYR SYS1 SLC38A8 SIX6 PAX6 GPR143
34 nystagmus 6, congenital, x-linked 9.1 TYR SLC38A8 PAX6 LGR5 GPR143 FRMD7
35 retinitis pigmentosa 8.3 TYR TRNT1 SIX6 PROM1 PLEK PAX6
36 nystagmus 7, congenital, autosomal dominant 7.6 TYR SLC38A8 SIX6 PROM1 PLEK PAX6
37 nystagmus 4, congenital, autosomal dominant 7.6 TYR SLC38A8 SIX6 PROM1 PLEK PAX6

Graphical network of the top 20 diseases related to Nystagmus 2, Congenital, Autosomal Dominant:



Diseases related to Nystagmus 2, Congenital, Autosomal Dominant

Symptoms & Phenotypes for Nystagmus 2, Congenital, Autosomal Dominant

Human phenotypes related to Nystagmus 2, Congenital, Autosomal Dominant:

31
# Description HPO Frequency HPO Source Accession
1 visual impairment 31 HP:0000505
2 strabismus 31 HP:0000486
3 reduced visual acuity 31 HP:0007663
4 horizontal nystagmus 31 HP:0000666
5 mildly reduced visual acuity 31 HP:0032037

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
strabismus
mildly reduced visual acuity
nystagmus, horizontal
asymmetric pendular movements
dual waveform jerk movements
more

Clinical features from OMIM®:

164100 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Nystagmus 2, Congenital, Autosomal Dominant:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.35 ABCA4 GPR143 PAX6 PROM1 TYR
2 vision/eye MP:0005391 9.32 ABCA4 BBS2 FARP1 FRMD7 GPR143 NCS1

Drugs & Therapeutics for Nystagmus 2, Congenital, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Nystagmus 2, Congenital, Autosomal Dominant

Genetic Tests for Nystagmus 2, Congenital, Autosomal Dominant

Anatomical Context for Nystagmus 2, Congenital, Autosomal Dominant

MalaCards organs/tissues related to Nystagmus 2, Congenital, Autosomal Dominant:

40
Eye

Publications for Nystagmus 2, Congenital, Autosomal Dominant

Articles related to Nystagmus 2, Congenital, Autosomal Dominant:

(show all 17)
# 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
Clinical features of autosomal dominant congenital nystagmus linked to chromosome 6p12. 57
9437315 1998
4
A gene for autosomal dominant congenital nystagmus localizes to 6p12. 57
8661013 1996
5
Hereditary congenital nystagmus and gaze-holding failure: the role of the neural integrator. 57
8414024 1993
6
Infantile nystagmus: a prospective study of spasmus nutans, and congenital nystagmus, and unclassified nystagmus of infancy. 57
5504065 1970
7
[A RARE TYPE OF HEREDITARY NYSTAGMUS WITH AUTOSOMAL-DOMINANT INHERITANCE AND SPECIAL PHENOMENON: VERTICAL NYSTAGMUS COMPONENT AND DISORDER OF THE VERTICAL AND HORIZONTAL OPTOKINETIC NYSTAGMUS]. 57
14220465 1964
8
The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmus. 61
21303855 2011
9
Novel mutations in FRMD7 in X-linked congenital nystagmus. Mutation in brief #963. Online. 61
17397053 2007
10
Safety and efficacy of multilamellar liposomal nystatin against disseminated candidiasis in persistently neutropenic rabbits. 61
10508025 1999
11
Localization of CS and non-CS antigens in the sporogonic stages of Plasmodium yoelii. 61
2094581 1990
12
[Yeast resistance to polyene antibiotics. VII. The interaction of the mutant alleles of the nystatin resistance genes in Saccharomyces cerevisiae]. 61
3060398 1988
13
[Genetico-ecological aspects of the use of nystatin-resistant yeast mutants in the yeast-Drosophila system]. 61
3135243 1988
14
[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
15
Characterization of Plasmodium yoelii monoclonal antibodies directed against stage-specific sporozoite antigens. 61
2434426 1987
16
[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
17
[Yeast resistance to polyene antibiotics. III. Phenotypic analysis of polyene-resistant sterol mutants of Saccharomyces cerevisiae yeasts]. 61
6381228 1984

Variations for Nystagmus 2, Congenital, Autosomal Dominant

Expression for Nystagmus 2, Congenital, Autosomal Dominant

Search GEO for disease gene expression data for Nystagmus 2, Congenital, Autosomal Dominant.

Pathways for Nystagmus 2, Congenital, Autosomal Dominant

Pathways related to Nystagmus 2, Congenital, Autosomal Dominant according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.92 PROM1 PAX6 LGR5

GO Terms for Nystagmus 2, Congenital, Autosomal Dominant

Cellular components related to Nystagmus 2, Congenital, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 melanosome membrane GO:0033162 8.62 TYR GPR143

Biological processes related to Nystagmus 2, Congenital, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cortical actin cytoskeleton organization GO:0030866 9.4 PLEK EPB41
2 Golgi to plasma membrane protein transport GO:0043001 9.37 SYS1 BBS2
3 photoreceptor cell maintenance GO:0045494 9.33 PROM1 BBS2 ABCA4
4 protein localization to organelle GO:0033365 9.32 PAX6 BBS2
5 melanosome transport GO:0032402 9.26 GPR143 BBS2
6 visual perception GO:0007601 9.1 TYR SIX6 PAX6 GPR143 BBS2 ABCA4
7 eye pigment biosynthetic process GO:0006726 8.96 TYR GPR143

Sources for Nystagmus 2, 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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