Nystagmus 7, Congenital, Autosomal Dominant (NYS7)

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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

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.

Clinical features from OMIM®:

614826 (Updated 05-Mar-2021)

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

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