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 58 30 13 6 74
Nys6 58 76
Nystagmus, Type 6, Congenital, X-Linked 41
Nystagmus Congenital X-Linked 6 76

Characteristics:

HPO:

33
nystagmus 6, congenital, x-linked:
Inheritance x-linked inheritance


Classifications:



External Ids:

OMIM 58 300814
MeSH 45 D020417
MedGen 43 C3151752
UMLS 74 C3151752

Summaries for Nystagmus 6, Congenital, X-Linked

OMIM : 58 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 : 76 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

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

33
# Description HPO Frequency HPO Source Accession
1 amblyopia 33 HP:0000646
2 horizontal nystagmus 33 HP:0000666
3 hyperopic astigmatism 33 HP:0000484

Clinical features from OMIM:

300814

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 30 GPR143

Anatomical Context for Nystagmus 6, Congenital, X-Linked

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

42
Eye, Brain

Publications for Nystagmus 6, Congenital, X-Linked

Articles related to Nystagmus 6, Congenital, X-Linked:

# Title Authors Year
1
A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus. ( 19390656 )
2009
2
Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus. ( 18523664 )
2008
3
Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation. ( 17516023 )
2007

Variations for Nystagmus 6, Congenital, X-Linked

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

76
# 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
5 GPR143 NM_000273.2: c.731delT deletion Pathogenic GRCh38 Chromosome X, 9743601: 9743601
6 GPR143 NM_000273.2: c.731delT deletion Pathogenic GRCh37 Chromosome X, 9711641: 9711641

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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45 MeSH
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47 MGI
50 NCI
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55 NINDS
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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