NYS6
MCID: NYS013
MIFTS: 17

Nystagmus 6, Congenital, X-Linked (NYS6)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Nystagmus 6, Congenital, X-Linked

MalaCards integrated aliases for Nystagmus 6, Congenital, X-Linked:

Name: Nystagmus 6, Congenital, X-Linked 57 29 13 6 73
Nys6 57 75
Nystagmus, Type 6, Congenital, X-Linked 40
Nystagmus Congenital X-Linked 6 75

Characteristics:

HPO:

32
nystagmus 6, congenital, x-linked:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 57 300814
MedGen 42 C3151752
MeSH 44 D020417
UMLS 73 C3151752

Summaries for Nystagmus 6, Congenital, X-Linked

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). (300814)

MalaCards based summary : Nystagmus 6, Congenital, X-Linked, is also known as nys6. An important gene associated with Nystagmus 6, Congenital, X-Linked is GPR143 (G Protein-Coupled Receptor 143). Affiliated tissues include eye and brain, and related phenotypes are amblyopia and horizontal nystagmus

UniProtKB/Swiss-Prot : 75 Nystagmus congenital X-linked 6: A condition defined as conjugated, spontaneous and involuntary ocular oscillations that appear at birth or during the first three months of life. Other associated features may include mildly decreased visual acuity, strabismus, astigmatism, and occasionally head nodding.

Related Diseases for Nystagmus 6, Congenital, X-Linked

Symptoms & Phenotypes for Nystagmus 6, Congenital, X-Linked

Clinical features from OMIM:

300814

Human phenotypes related to Nystagmus 6, Congenital, X-Linked:

32
# Description HPO Frequency HPO Source Accession
1 amblyopia 32 HP:0000646
2 horizontal nystagmus 32 HP:0000666
3 hyperopic astigmatism 32 HP:0000484

Drugs & Therapeutics for Nystagmus 6, Congenital, X-Linked

Search Clinical Trials , NIH Clinical Center for Nystagmus 6, Congenital, X-Linked

Genetic Tests for Nystagmus 6, Congenital, X-Linked

Genetic tests related to Nystagmus 6, Congenital, X-Linked:

# Genetic test Affiliating Genes
1 Nystagmus 6, Congenital, X-Linked 29 GPR143

Anatomical Context for Nystagmus 6, Congenital, X-Linked

MalaCards organs/tissues related to Nystagmus 6, Congenital, X-Linked:

41
Eye, Brain

Publications for Nystagmus 6, Congenital, X-Linked

Variations for Nystagmus 6, Congenital, X-Linked

UniProtKB/Swiss-Prot genetic disease variations for Nystagmus 6, Congenital, X-Linked:

75
# Symbol AA change Variation ID SNP ID
1 GPR143 p.Ser89Phe VAR_063266 rs137852298

ClinVar genetic disease variations for Nystagmus 6, Congenital, X-Linked:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GPR143 NM_000273.2(GPR143): c.266C> T (p.Ser89Phe) single nucleotide variant Pathogenic rs137852298 GRCh37 Chromosome X, 9728851: 9728851
2 GPR143 NM_000273.2(GPR143): c.266C> T (p.Ser89Phe) single nucleotide variant Pathogenic rs137852298 GRCh38 Chromosome X, 9760811: 9760811
3 GPR143 GPR143, 37-BP DEL deletion Pathogenic
4 GPR143 GPR143, 19-BP DUP duplication Pathogenic

Expression for Nystagmus 6, Congenital, X-Linked

Search GEO for disease gene expression data for Nystagmus 6, Congenital, X-Linked.

Pathways for Nystagmus 6, Congenital, X-Linked

GO Terms for Nystagmus 6, Congenital, X-Linked

Sources for Nystagmus 6, Congenital, X-Linked

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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