NYS7
MCID: NYS016
MIFTS: 16

Nystagmus 7, Congenital, Autosomal Dominant (NYS7)

Categories: 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 56 71
Nys7 56 12
Autosomal Dominant Congenital Nystagmus 7 12
Nystagmus 7, Congenital 13
Congenital Nystagmus 7 12

Characteristics:

OMIM:

56
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 56 614826
OMIM Phenotypic Series 56 PS310700
MedGen 41 C3553801
SNOMED-CT via HPO 68 263681008
UMLS 71 C3553801

Summaries for Nystagmus 7, Congenital, Autosomal Dominant

OMIM : 56 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)

MalaCards based summary : Nystagmus 7, Congenital, Autosomal Dominant, also known as nys7, is related to pathologic nystagmus. An important gene associated with Nystagmus 7, Congenital, Autosomal Dominant is NYS7 (Nystagmus 7, Congenital). Affiliated tissues include eye and brain, and related phenotype is horizontal pendular nystagmus.

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:

# Related Disease Score Top Affiliating Genes
1 pathologic nystagmus 10.3

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:

56
Head And Neck Eyes:
nystagmus, congenital horizontal pendular
no other ocular defects

Clinical features from OMIM:

614826

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, Brain

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. 56
22914672 2012
2
A novel locus for autosomal dominant congenital motor nystagmus mapped to 1q31-q32.2 between D1S2816 and D1S2692. 56
22065086 2012
3
X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7. 56
18087240 2007
4
Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. 56
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

GO Terms for Nystagmus 7, Congenital, Autosomal Dominant

Sources for Nystagmus 7, Congenital, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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