Keratoconus 7 (KTCN7)

External Ids:

OMIM 56 614629 OMIM Phenotypic Series 56 PS148300 MedGen 41 C3553308

SNOMED-CT via HPO 68 263681008 65636009 UMLS 71 C3553308

OMIM : ⁵⁶ Keratoconus (KTCN) is a noninflammatory thinning and consequent bulging of the cornea that results in distortion of the corneal surface, altered refractive powers of the eye (both axial and refractive), and reduced visual acuity. In more advanced cases, corneal scarring further reduces visual acuity. Symptoms are highly variable and depend on the stage of the progression of the disorder. The trait has an incidence of approximately 1 in 2,000 individuals and is the most common indication for corneal transplantation in the United States (summary by Gajecka et al., 2009). For a discussion of genetic heterogeneity of keratoconus, see KTCN1 (148300). (614629)

MalaCards based summary : Keratoconus 7, also known as ktcn7, is related to keratoconus. An important gene associated with Keratoconus 7 is KTCN7 (Keratoconus 7). Affiliated tissues include eye, and related phenotype is keratoconus.

Clinical features from OMIM:

614629

Search Clinical Trials , NIH Clinical Center for Keratoconus 7

Search GEO for disease gene expression data for Keratoconus 7.