NYS7
MCID: NYS016
MIFTS: 14

Nystagmus 7, Congenital, Autosomal Dominant (NYS7)

Categories: Eye 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 58 74
Nys7 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
present in infancy in all affected individuals


HPO:

33
nystagmus 7, congenital, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 614826
MedGen 43 C3553801
SNOMED-CT via HPO 70 263681008
UMLS 74 C3553801

Summaries for Nystagmus 7, Congenital, Autosomal Dominant

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). (614826)

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

Related Diseases for Nystagmus 7, Congenital, Autosomal Dominant

Symptoms & Phenotypes for Nystagmus 7, Congenital, Autosomal Dominant

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

33
# Description HPO Frequency HPO Source Accession
1 horizontal pendular nystagmus 33 HP:0007811

Symptoms via clinical synopsis from OMIM:

58
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:

42
Brain, Eye

Publications for Nystagmus 7, Congenital, Autosomal Dominant

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
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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