NYS7
MCID: NYS016
MIFTS: 28
|
Nystagmus 7, Congenital, Autosomal Dominant (NYS7)
Categories:
Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
|
|
MalaCards integrated aliases for Nystagmus 7, Congenital, Autosomal Dominant:
Name: Nystagmus 7, Congenital, Autosomal Dominant
57
71
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
present in infancy in all affected individuals HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Eye diseases |
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. |
Human phenotypes related to Nystagmus 7, Congenital, Autosomal Dominant:31
|
|
MalaCards organs/tissues related to Nystagmus 7, Congenital, Autosomal Dominant:40
Eye
|
Articles related to Nystagmus 7, Congenital, Autosomal Dominant:
|
|
Search
GEO
for disease gene expression data for Nystagmus 7, Congenital, Autosomal Dominant.
|
Cellular components related to Nystagmus 7, Congenital, Autosomal Dominant according to GeneCards Suite gene sharing:
Biological processes related to Nystagmus 7, Congenital, Autosomal Dominant according to GeneCards Suite gene sharing:
|
|