NYS7
MCID: NYS016
MIFTS: 28

Nystagmus 7, Congenital, Autosomal Dominant (NYS7)

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

Aliases & Classifications for Nystagmus 7, Congenital, Autosomal Dominant

MalaCards integrated aliases for Nystagmus 7, Congenital, Autosomal Dominant:

Name: Nystagmus 7, Congenital, Autosomal Dominant 57 71
Congenital Nystagmus 7 12 15
Nys7 57 12
Autosomal Dominant Congenital Nystagmus 7 12
Nystagmus 7, Congenital 13

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
present in infancy in all affected individuals


HPO:

31
nystagmus 7, congenital, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111791
OMIM® 57 614826
OMIM Phenotypic Series 57 PS310700
MedGen 41 C3553801
SNOMED-CT via HPO 68 263681008
UMLS 71 C3553801

Summaries for Nystagmus 7, 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). (614826) (Updated 05-Mar-2021)

MalaCards based summary : Nystagmus 7, Congenital, Autosomal Dominant, also known as congenital nystagmus 7, is related to pathologic nystagmus and x-linked infantile nystagmus. An important gene associated with Nystagmus 7, Congenital, Autosomal Dominant is NYS7 (Nystagmus 7, Congenital), 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 horizontal pendular nystagmus and pigmentation

Disease Ontology : 12 A congenital nystagmus that has material basis in heterozygous mutation in a region of chromosome 1q31.3-q32.1.

Related Diseases for Nystagmus 7, 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 7, Congenital, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 pathologic nystagmus 28.3 TYR SLC38A8 SIX6 PAX6 GPR143 FRMD7
2 x-linked infantile nystagmus 10.3 GPR143 FRMD7
3 coloboma of eyelid 10.2 PAX6 ABCB6
4 coloboma of eye lens 10.2 PAX6 ABCB6
5 developmental defect of the eye 10.2 SLC38A8 PAX6
6 isolated foveal hypoplasia 10.2 SLC38A8 PAX6
7 albinism, oculocutaneous, type v 10.2 TYR GPR143
8 albinism, oculocutaneous, type ib 10.2 TYR GPR143
9 albinism, oculocutaneous, type ia 10.2 TYR GPR143
10 albinism, oculocutaneous, type vii 10.2 TYR GPR143
11 albinism, oculocutaneous, type iv 10.2 TYR GPR143
12 sclerocornea 10.1 SIX6 PAX6
13 albinism, oculocutaneous, type iii 10.1 TYR GPR143
14 coloboma of optic nerve 10.1 PAX6 ABCB6
15 ocular albinism 10.1 TYR GPR143 FRMD7
16 isolated macular dystrophy 10.1 PROM1 ABCA4
17 coloboma, ocular, autosomal dominant 10.0 PAX6 ABCB6
18 nystagmus 5, congenital, x-linked 10.0 SIX6 GPR143 FRMD7 ABCB6
19 anterior segment dysgenesis 10.0 SLC38A8 SIX6 PAX6
20 optic nerve hypoplasia, bilateral 10.0 SIX6 PAX6 ABCA4
21 glaucoma, primary open angle 10.0 SIX6 PAX6 ABCA4
22 coloboma of macula 10.0 SIX6 PAX6 ABCB6
23 iris disease 10.0 SLC38A8 PAX6
24 congenital nystagmus 1 10.0 GPR143 FRMD7 EPB41
25 ocular motility disease 10.0 SLC38A8 PAX6 GPR143 FRMD7
26 pigmentation disease 9.9 TYR ABCB6
27 strabismus 9.9 TYR PAX6 GPR143 FRMD7
28 aniridia 1 9.8 SLC38A8 SIX6 PAX6 GPR143 FRMD7
29 achromatopsia 9.8 SLC38A8 PAX6 GPR143 FRMD7 ABCA4
30 microphthalmia 9.7 TYR SIX6 PAX6 ABCB6
31 developmental and epileptic encephalopathy 5 9.7 PLEK EPB41
32 spinocerebellar ataxia 5 9.7 PLEK EPB41
33 congenital nystagmus 9.6 TYR SLC38A8 PAX6 GPR143 FRMD7 FARP1
34 retinal disease 9.6 PAX6 BBS2 ABCA4
35 leber plus disease 9.5 SLC38A8 PROM1 PAX6 BBS2 ABCA4
36 nystagmus 3, congenital, autosomal dominant 9.4 SLC38A8 SIX6 GPR143 FRMD7 FARP1 EPB41
37 fundus dystrophy 9.4 SIX6 PROM1 PAX6 FRMD7 BBS2 ABCA4
38 retinitis pigmentosa 8.9 TYR SIX6 PROM1 PAX6 LGR5 BBS2
39 nystagmus 6, congenital, x-linked 8.9 TYR SLC38A8 PAX6 LGR5 GPR143 FRMD7
40 nystagmus 4, congenital, autosomal dominant 7.3 TYR SLC38A8 SIX6 PROM1 PLEK PAX6
41 nystagmus 2, congenital, autosomal dominant 7.3 TYR SLC38A8 SIX6 PROM1 PLEK PAX6

Graphical network of the top 20 diseases related to Nystagmus 7, Congenital, Autosomal Dominant:



Diseases related to Nystagmus 7, Congenital, Autosomal Dominant

Symptoms & Phenotypes for Nystagmus 7, Congenital, Autosomal Dominant

Human phenotypes related to Nystagmus 7, Congenital, Autosomal Dominant:

31
# Description HPO Frequency HPO Source Accession
1 horizontal pendular nystagmus 31 HP:0007811

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
nystagmus, congenital horizontal pendular
no other ocular defects

Clinical features from OMIM®:

614826 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Nystagmus 7, 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 9.28 ABCA4 BBS2 FARP1 FRMD7 GPR143 PAX6

Drugs & Therapeutics for Nystagmus 7, Congenital, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Nystagmus 7, Congenital, Autosomal Dominant

Genetic Tests for Nystagmus 7, Congenital, Autosomal Dominant

Anatomical Context for Nystagmus 7, Congenital, Autosomal Dominant

MalaCards organs/tissues related to Nystagmus 7, Congenital, Autosomal Dominant:

40
Eye

Publications for Nystagmus 7, Congenital, Autosomal Dominant

Articles related to Nystagmus 7, Congenital, Autosomal Dominant:

# Title Authors PMID Year
1
Confirmation and refinement of an autosomal dominant congenital motor nystagmus locus in chromosome 1q31.3-q32.1. 57
22914672 2012
2
A novel locus for autosomal dominant congenital motor nystagmus mapped to 1q31-q32.2 between D1S2816 and D1S2692. 57
22065086 2012
3
X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7. 57
18087240 2007
4
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. 57
17013395 2006
5
Structural variations in a non-coding region at 1q32.1 are responsible for the NYS7 locus in two large families. 61
32248360 2020

Variations for Nystagmus 7, Congenital, Autosomal Dominant

Expression for Nystagmus 7, Congenital, Autosomal Dominant

Search GEO for disease gene expression data for Nystagmus 7, Congenital, Autosomal Dominant.

Pathways for Nystagmus 7, Congenital, Autosomal Dominant

Pathways related to Nystagmus 7, 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 7, Congenital, Autosomal Dominant

Cellular components related to Nystagmus 7, 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 7, Congenital, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cortical actin cytoskeleton organization GO:0030866 9.37 PLEK EPB41
2 photoreceptor cell maintenance GO:0045494 9.33 PROM1 BBS2 ABCA4
3 protein localization to organelle GO:0033365 9.32 PAX6 BBS2
4 melanosome transport GO:0032402 9.26 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

Sources for Nystagmus 7, 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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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