KERATOCONUS 7

General Information (adopted from Orphanet):

Synonyms, Signs: KTCN7
Number of Symptoms 7
OrphanetNr:
OMIM Id: 614629
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000563) Keratoconus 25 / 7739
2
(MedDRA:10054760) Corneal thinning 2 / 7739
3
(OMIM) Prominent corneal nerves 2 / 7739
4
(OMIM) Conical protrusion of cornea with curvature greater than 47 D on topography 1 / 7739
5
(OMIM) Stromal scar tissue (in some patients) 1 / 7739
6
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
7
(OMIM) Acentric or irregular corneal video keratography shapes 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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, ...
Clinical Description OMIM Gajecka et al. (2009) studied 18 Ecuadoran families segregating autosomal dominant keratoconus without other ocular or systemic features. Family members with KTCN showed conical protrusion of the cornea, prominent corneal nerves, and corneal thinning with or without stromal ...
Molecular genetics OMIM Czugala et al. (2012) analyzed the coding regions and intron-exon junctions of 8 candidate genes in 23 members of an Ecuadoran family (family KTCN-014) with keratoconus mapping to chromosome 13q32, as well as in 2 affected individuals from ...