NYS4
MCID: NYS005
MIFTS: 33

Nystagmus 4, Congenital, Autosomal Dominant (NYS4)

Categories: Eye diseases, Genetic 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 57 20 70
Vestibulocerebellar Disorder with Predominant Ocular Signs 57 12 20
Nys4 57 12 20
Congenital Nystagmus 4 12 15
Autosomal Dominant Congenital Nystagmus 4 12
Nystagmus 4, Congenital 13

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
nonprogressive
onset within first 2 years

Inheritance:
autosomal dominant


HPO:

31
nystagmus 4, congenital, autosomal dominant:
Inheritance autosomal dominant inheritance
Onset and clinical course nonprogressive


Classifications:



External Ids:

Disease Ontology 12 DOID:0111794
OMIM® 57 193003
OMIM Phenotypic Series 57 PS310700
MedGen 41 C1860433
UMLS 70 C1860433

Summaries for Nystagmus 4, 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). (193003) (Updated 20-May-2021)

MalaCards based summary : Nystagmus 4, Congenital, Autosomal Dominant, also known as vestibulocerebellar disorder with predominant ocular signs, is related to x-linked infantile nystagmus and coloboma of eyelid. An important gene associated with Nystagmus 4, Congenital, Autosomal Dominant is NYS4 (Nystagmus 4, Congenital Autosomal Dominant), and among its related pathways/superpathways are Estrogen signaling pathway (KEGG) and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include eye and skin, and related phenotypes are strabismus and abnormal vestibulo-ocular reflex

Disease Ontology : 12 A congenital nystagmus that has material basis in heterozygous mutation in a region of chromosome 13q31-q33.

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 Congenital Nystagmus 1
Frmd7-Related Infantile Nystagmus

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

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 x-linked infantile nystagmus 10.4 GPR143 FRMD7
2 coloboma of eyelid 10.3 PAX6 ABCB6
3 coloboma of eye lens 10.3 PAX6 ABCB6
4 developmental defect of the eye 10.3 SLC38A8 PAX6
5 isolated foveal hypoplasia 10.3 SLC38A8 PAX6
6 albinism, oculocutaneous, type v 10.2 TYR GPR143
7 albinism, oculocutaneous, type ib 10.2 TYR GPR143
8 albinism, oculocutaneous, type ia 10.2 TYR GPR143
9 albinism, oculocutaneous, type vii 10.2 TYR GPR143
10 congenital nystagmus 1 10.2 GPR143 FRMD7 EPB41
11 limbal stem cell deficiency 10.2 KRT14 KRT13
12 albinism, oculocutaneous, type iv 10.2 TYR GPR143
13 aniridia 1 10.2 SLC38A8 PAX6 FRMD7
14 nonsyndromic retinitis pigmentosa 10.2 BBS2 ABCA4
15 ocular albinism 10.2 TYR GPR143 FRMD7
16 optic nerve hypoplasia, bilateral 10.2 SIX6 PAX6 ABCA4
17 nystagmus 5, congenital, x-linked 10.2 SIX6 GPR143 FRMD7 ABCB6
18 glaucoma, primary open angle 10.1 SIX6 PAX6 ABCA4
19 ocular motility disease 10.1 SLC38A8 PAX6 GPR143 FRMD7
20 anterior segment dysgenesis 10.1 SLC38A8 SIX6 PAX6
21 skin benign neoplasm 10.0 TYR KRT14 KRT13
22 isolated macular dystrophy 10.0 PROM1 ABCA4
23 sclerocornea 10.0 SIX6 PAX6
24 large cell acanthoma 10.0 KRT14 KRT10
25 strabismus 10.0 TYR PAX6 GPR143 FRMD7
26 striate palmoplantar keratoderma 10.0 KRT14 KRT10
27 eccrine papillary adenocarcinoma 10.0 KRT14 KRT10
28 eccrine sweat gland neoplasm 10.0 KRT14 KRT10
29 eccrine papillary adenoma 10.0 KRT14 KRT10
30 hair follicle neoplasm 10.0 KRT14 KRT10
31 borst-jadassohn intraepidermal carcinoma 9.9 KRT14 KRT10
32 achromatopsia 9.9 SLC38A8 PAX6 GPR143 FRMD7 ABCA4
33 pancreatoblastoma 9.9 KRT14 KRT10
34 cholesteatoma of middle ear 9.9 KRT14 KRT13 KRT10
35 pinguecula 9.9 PAX6 KRT14 KRT10
36 developmental and epileptic encephalopathy 5 9.8 PLEK EPB41
37 spinocerebellar ataxia 5 9.8 PLEK EPB41
38 congenital nystagmus 9.7 TYR SLC38A8 PAX6 GPR143 FRMD7 FARP1
39 hyaline fibromatosis syndrome 9.7 LGR5 KRT14 KRT10
40 integumentary system disease 9.7 TYR KRT14 KRT10
41 papilloma 9.7 KRT14 KRT13 KRT10
42 nystagmus 3, congenital, autosomal dominant 9.7 SLC38A8 SIX6 GPR143 FRMD7 FARP1 EPB41
43 eye disease 9.7 TYR PAX6 KRT14 KRT13 ABCA4
44 skin papilloma 9.6 KRT14 KRT10
45 leber plus disease 9.6 SLC38A8 PROM1 PAX6 BBS2 ABCA4
46 fundus dystrophy 9.5 SIX6 PROM1 PAX6 FRMD7 BBS2 ABCA4
47 basal cell carcinoma 9.3 TYR LGR5 KRT14 KRT10
48 pathologic nystagmus 9.3 TYR SLC38A8 SIX6 PAX6 GPR143 FRMD7
49 skin carcinoma 9.2 TYR PROM1 LGR5 KRT14 KRT10
50 nystagmus 6, congenital, x-linked 9.2 TYR SLC38A8 PAX6 LGR5 GPR143 FRMD7

Graphical network of the top 20 diseases related to Nystagmus 4, Congenital, Autosomal Dominant:



Diseases related to Nystagmus 4, Congenital, Autosomal Dominant

Symptoms & Phenotypes for Nystagmus 4, Congenital, Autosomal Dominant

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

31
# Description HPO Frequency HPO Source Accession
1 strabismus 31 HP:0000486
2 abnormal vestibulo-ocular reflex 31 HP:0007670
3 gaze-evoked nystagmus 31 HP:0000640
4 absent smooth pursuit 31 HP:0007179
5 upbeat nystagmus 31 HP:0011477

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
nystagmus
strabismus

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

Clinical features from OMIM®:

193003 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Nystagmus 4, Congenital, Autosomal Dominant:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.43 ABCA4 GPR143 KRT14 PAX6 PROM1 TYR
2 vision/eye MP:0005391 9.32 ABCA4 BBS2 FARP1 FRMD7 GPR143 KRT14

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:

40
Eye, Skin

Publications for Nystagmus 4, Congenital, Autosomal Dominant

Articles related to Nystagmus 4, Congenital, Autosomal Dominant:

(show all 12)
# Title Authors PMID Year
1
Familial vestibulocerebellar disorder maps to chromosome 13q31-q33: a new nystagmus locus. 57 61
12525540 2003
2
X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7. 57
18087240 2007
3
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. 57
17013395 2006
4
Eye movements in a familial vestibulocerebellar disorder. 57
8355816 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
Safety and efficacy of multilamellar liposomal nystatin against disseminated candidiasis in persistently neutropenic rabbits. 61
10508025 1999
8
Localization of CS and non-CS antigens in the sporogonic stages of Plasmodium yoelii. 61
2094581 1990
9
A malaria sporozoite surface antigen distinct from the circumsporozoite protein. 61
2094580 1990
10
[Resistance of yeasts to polyene antibiotics]. 61
2689285 1989
11
[Yeast resistance to polyene antibiotics. VII. The interaction of the mutant alleles of the nystatin resistance genes in Saccharomyces cerevisiae]. 61
3060398 1988
12
Characterization of Plasmodium yoelii monoclonal antibodies directed against stage-specific sporozoite antigens. 61
2434426 1987

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

Pathways related to Nystagmus 4, Congenital, Autosomal Dominant according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.47 KRT14 KRT13 KRT10
2 11.26 PROM1 PAX6 LGR5
3 10.78 KRT14 KRT13 KRT10

GO Terms for Nystagmus 4, Congenital, Autosomal Dominant

Cellular components related to Nystagmus 4, 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 4, Congenital, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cornification GO:0070268 9.43 KRT14 KRT13 KRT10
2 protein localization to organelle GO:0033365 9.37 PAX6 BBS2
3 photoreceptor cell maintenance GO:0045494 9.33 PROM1 BBS2 ABCA4
4 melanosome transport GO:0032402 9.32 GPR143 BBS2
5 visual perception GO:0007601 9.1 TYR SIX6 PAX6 GPR143 BBS2 ABCA4
6 eye pigment biosynthetic process GO:0006726 8.96 TYR GPR143

Molecular functions related to Nystagmus 4, Congenital, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural molecule activity GO:0005198 8.92 KRT14 KRT13 KRT10 EPB41

Sources for Nystagmus 4, 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
Content
Loading form....