NYS6
MCID: NYS013
MIFTS: 39

Nystagmus 6, Congenital, X-Linked (NYS6)

Categories: Eye diseases, Genetic diseases, Neuronal 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 70
Nys6 57 12 72
Congenital Nystagmus 6 12 15
Nystagmus, Type 6, Congenital, X-Linked 39
X-Linked Congenital Nystagmus 6 12
Nystagmus Congenital X-Linked 6 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
x-linked recessive

Miscellaneous:
onset of disease before 6 months of age


HPO:

31
nystagmus 6, congenital, x-linked:
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111795
OMIM® 57 300814
OMIM Phenotypic Series 57 PS310700
MeSH 44 D020417
MedGen 41 C3151752
SNOMED-CT via HPO 68 387742006 449734001 81756001
UMLS 70 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) (Updated 20-May-2021)

MalaCards based summary : Nystagmus 6, Congenital, X-Linked, also known as nys6, is related to nystagmus 5, congenital, x-linked and x-linked infantile nystagmus. An important gene associated with Nystagmus 6, Congenital, X-Linked is GPR143 (G Protein-Coupled Receptor 143), and among its related pathways/superpathways are L1CAM interactions and Endocytic Trafficking of EGFR. Affiliated tissues include eye and skin, and related phenotypes are amblyopia and horizontal nystagmus

Disease Ontology : 12 A congenital nystagmus that has material basis in hemizygous of homoxygous mutation in GPR143 on chromosome Xp22.2.

UniProtKB/Swiss-Prot : 72 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

Diseases in the Nystagmus 6, Congenital, X-Linked family:

Nystagmus 5, Congenital, X-Linked Nystagmus 1, Congenital, X-Linked
X-Linked Infantile Nystagmus

Diseases related to Nystagmus 6, Congenital, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 nystagmus 5, congenital, x-linked 10.3 GPR143 FRMD7
2 x-linked infantile nystagmus 10.3 GPR143 FRMD7
3 congenital nystagmus 1 10.2 GPR143 FRMD7 EPB41
4 neisseria meningitidis infection 10.2 MSN EZR
5 immunodeficiency 50 10.2 RDX MSN EZR
6 deafness, autosomal recessive 24 10.2 RDX EZR
7 acoustic neuroma 10.1 RDX MSN EZR
8 kindler syndrome 10.1 RDX MSN EZR
9 nystagmus 3, congenital, autosomal dominant 10.1 SLC38A8 GPR143 FRMD7 EPB41
10 developmental defect of the eye 10.1 SLC38A8 PAX6
11 isolated foveal hypoplasia 10.1 SLC38A8 PAX6
12 neurofibromatosis, type ii 10.0 RDX MSN EZR EPB41
13 cataract 18 10.0 TYRP1 OCA2
14 meningioma, familial 10.0 RDX MSN EZR EPB41
15 aniridia 1 9.9 SLC38A8 PAX6 FRMD7
16 ocular motility disease 9.9 SLC38A8 PAX6 GPR143 FRMD7
17 achromatopsia 9.8 SLC38A8 PAX6 GPR143 FRMD7
18 nodular malignant melanoma 9.8 TYR MC1R
19 neurilemmoma 9.7 TYR RDX MSN EZR
20 tietz albinism-deafness syndrome 9.7 TYRP1 TYR SLC45A2
21 dowling-degos disease 1 9.7 TYRP1 TYR
22 ochronosis 9.7 TYRP1 TYR MC1R
23 melanocytic nevus syndrome, congenital 9.7 TYR MC1R
24 vitiligo-associated multiple autoimmune disease susceptibility 1 9.6 TYRP1 TYR MC1R
25 acute contagious conjunctivitis 9.6 TYRP1 TYR SLC45A2 OCA2
26 acute conjunctivitis 9.6 TYRP1 TYR SLC45A2 OCA2
27 griscelli syndrome 9.5 TYRP1 TYR SLC45A2 OCA2
28 albinism, oculocutaneous, type v 9.5 TYRP1 TYR SLC45A2 OCA2 GPR143
29 albinism, oculocutaneous, type ia 9.5 TYRP1 TYR SLC45A2 OCA2 GPR143
30 albinism, oculocutaneous, type vii 9.5 TYRP1 TYR SLC45A2 OCA2 GPR143
31 hermansky-pudlak syndrome 9.4 TYRP1 TYR SLC45A2 OCA2 GPR143
32 albinism, oculocutaneous, type ii 9.4 TYRP1 TYR SLC45A2 OCA2 MC1R
33 piebald trait 9.4 TYRP1 TYR SLC45A2 OCA2 MC1R
34 oculocutaneous albinism 9.3 TYRP1 TYR SLC45A2 OCA2 MC1R
35 melanoma, cutaneous malignant 1 9.3 TYRP1 TYR SLC45A2 OCA2 MC1R
36 ocular albinism 9.3 TYRP1 TYR SLC45A2 OCA2 GPR143 FRMD7
37 strabismus 9.3 TYRP1 TYR PAX6 GPR143 FRMD7
38 skin melanoma 9.3 TYRP1 TYR SLC45A2 OCA2 MC1R
39 albinism, oculocutaneous, type ib 9.3 TYRP1 TYR SLC45A2 OCA2 MC1R GPR143
40 albinism 9.3 TYRP1 TYR SLC45A2 OCA2 MC1R GPR143
41 albinism, oculocutaneous, type iv 9.3 TYRP1 TYR SLC45A2 OCA2 MC1R GPR143
42 albinism, oculocutaneous, type iii 9.3 TYRP1 TYR SLC45A2 OCA2 MC1R GPR143
43 basal cell carcinoma 9.1 TYR SLC45A2 MC1R LGR5
44 waardenburg's syndrome 9.0 TYRP1 TYR SLC45A2 PAX6 OCA2 MC1R
45 skin carcinoma 9.0 TYRP1 TYR SLC45A2 OCA2 MC1R LGR5
46 congenital nystagmus 9.0 TYR SLC38A8 RDX PAX6 OCA2 MC1R
47 nystagmus 7, congenital, autosomal dominant 8.9 TYR SLC38A8 PAX6 LGR5 GPR143 FRMD7
48 nystagmus 4, congenital, autosomal dominant 8.9 TYR SLC38A8 PAX6 LGR5 GPR143 FRMD7
49 nystagmus 2, congenital, autosomal dominant 8.9 TYR SLC38A8 PAX6 LGR5 GPR143 FRMD7
50 pathologic nystagmus 8.4 TYRP1 TYR SLC45A2 SLC38A8 RDX PAX6

Graphical network of the top 20 diseases related to Nystagmus 6, Congenital, X-Linked:



Diseases related to Nystagmus 6, Congenital, X-Linked

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

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

31
# Description HPO Frequency HPO Source Accession
1 amblyopia 31 HP:0000646
2 horizontal nystagmus 31 HP:0000666
3 hyperopic astigmatism 31 HP:0000484

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
myopia
amblyopia
astigmatism
foveal hypoplasia
decreased visual acuity
more
Skin Nails Hair Hair:
normal hair pigmentation

Skin Nails Hair Skin:
normal skin pigmentation

Clinical features from OMIM®:

300814 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Nystagmus 6, Congenital, X-Linked:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.33 BBS2 CD47 EPB41 FRMD7 LGR5 MC1R
2 homeostasis/metabolism MP:0005376 10.18 BBS2 CD47 EPB41 FRMD7 LGR5 MC1R
3 craniofacial MP:0005382 10.03 BBS2 LGR5 MC1R OCA2 PAX6 SMAD9
4 integument MP:0010771 9.97 BBS2 CD47 LGR5 MC1R OCA2 PAX6
5 hearing/vestibular/ear MP:0005377 9.88 MC1R OCA2 PAX6 RDX TYR TYRP1
6 limbs/digits/tail MP:0005371 9.73 BBS2 CD47 MC1R OCA2 SMAD9 TYR
7 neoplasm MP:0002006 9.7 CD47 LGR5 MC1R PAX6 SMAD9 TYR
8 pigmentation MP:0001186 9.5 GPR143 MC1R OCA2 PAX6 SLC45A2 TYR
9 vision/eye MP:0005391 9.36 BBS2 CD47 EZR FRMD7 GPR143 MSN

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:

40
Eye, Skin

Publications for Nystagmus 6, Congenital, X-Linked

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

# Title Authors PMID Year
1
A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus. 57 6
19390656 2009
2
Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus. 57 6
18523664 2008
3
Identification of a novel GPR143 mutation in a large Chinese family with congenital nystagmus as the most prominent and consistent manifestation. 6 57
17516023 2007
4
X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7. 57
18087240 2007
5
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. 57
17013395 2006

Variations for Nystagmus 6, Congenital, X-Linked

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GPR143 NM_000273.3(GPR143):c.266C>T (p.Ser89Phe) SNV Pathogenic 10522 rs137852298 GRCh37: X:9728851-9728851
GRCh38: X:9760811-9760811
2 GPR143 GPR143, 37-BP DEL Deletion Pathogenic 10524 GRCh37:
GRCh38:
3 GPR143 GPR143, 19-BP DUP Duplication Pathogenic 10525 GRCh37:
GRCh38:
4 GPR143 NM_000273.3(GPR143):c.731del (p.Ile244fs) Deletion Pathogenic 619966 rs1569118851 GRCh37: X:9711641-9711641
GRCh38: X:9743601-9743601
5 GPR143 NM_000273.3(GPR143):c.947G>A (p.Cys316Tyr) SNV Uncertain significance 930593 GRCh37: X:9707698-9707698
GRCh38: X:9739658-9739658

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

72
# Symbol AA change Variation ID SNP ID
1 GPR143 p.Ser89Phe VAR_063266 rs137852298

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

Pathways related to Nystagmus 6, Congenital, X-Linked according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.53 RDX MSN EZR
2
Show member pathways
11.22 RDX MSN EZR
3 10.74 RDX MSN EZR
4 9.62 TYRP1 TYR SLC45A2 OCA2

GO Terms for Nystagmus 6, Congenital, X-Linked

Cellular components related to Nystagmus 6, Congenital, X-Linked according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.27 TYRP1 TYR SMAD9 RDX PC PAX6
2 membrane GO:0016020 10.13 TYRP1 TYR SLC45A2 SLC38A8 RDX PAX6
3 apical plasma membrane GO:0016324 9.78 RDX MSN GPR143 EZR
4 melanosome GO:0042470 9.61 TYRP1 TYR GPR143
5 filopodium GO:0030175 9.54 RDX MSN EZR
6 microvillus membrane GO:0031528 9.51 MSN EZR
7 cell periphery GO:0071944 9.5 RDX MSN EZR
8 cortical cytoskeleton GO:0030863 9.49 EZR EPB41
9 uropod GO:0001931 9.4 MSN EZR
10 microvillus GO:0005902 9.26 RDX MSN EZR BBS2
11 cell tip GO:0051286 9.16 RDX EZR
12 melanosome membrane GO:0033162 9.02 TYRP1 TYR SLC45A2 OCA2 GPR143

Biological processes related to Nystagmus 6, Congenital, X-Linked according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.83 TYR SLC45A2 PAX6 GPR143 BBS2
2 regulation of cell shape GO:0008360 9.8 RDX MSN EZR EPB41
3 regulation of cell size GO:0008361 9.65 RDX MSN EZR
4 establishment of endothelial barrier GO:0061028 9.63 RDX MSN EZR
5 protein localization to organelle GO:0033365 9.59 PAX6 BBS2
6 melanosome organization GO:0032438 9.58 TYRP1 GPR143
7 melanosome transport GO:0032402 9.58 GPR143 BBS2
8 positive regulation of cellular protein catabolic process GO:1903364 9.58 RDX MSN EZR
9 melanocyte differentiation GO:0030318 9.57 TYRP1 OCA2
10 establishment of epithelial cell apical/basal polarity GO:0045198 9.56 MSN EZR
11 pigmentation GO:0043473 9.56 TYRP1 TYR OCA2 MC1R
12 protein kinase A signaling GO:0010737 9.55 RDX EZR
13 developmental pigmentation GO:0048066 9.54 SLC45A2 OCA2
14 positive regulation of protein localization to early endosome GO:1902966 9.54 RDX MSN EZR
15 gland morphogenesis GO:0022612 9.52 MSN EZR
16 membrane to membrane docking GO:0022614 9.51 MSN EZR
17 positive regulation of early endosome to late endosome transport GO:2000643 9.5 RDX MSN EZR
18 regulation of organelle assembly GO:1902115 9.33 RDX MSN EZR
19 eye pigment biosynthetic process GO:0006726 9.13 TYR OCA2 GPR143
20 melanin biosynthetic process GO:0042438 9.02 TYRP1 TYR SLC45A2 OCA2 MC1R

Molecular functions related to Nystagmus 6, Congenital, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.46 RDX MSN EZR EPB41
2 protein kinase A binding GO:0051018 9.26 RDX EZR
3 monophenol monooxygenase activity GO:0004503 8.96 TYRP1 TYR
4 cytoskeletal protein binding GO:0008092 8.92 RDX MSN EZR EPB41

Sources for Nystagmus 6, Congenital, X-Linked

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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