KERATOCONUS 5

General Information (adopted from Orphanet):

Synonyms, Signs: KTCN5
Number of Symptoms 7
OrphanetNr:
OMIM Id: 614622
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:0200032) Kayser-Fleischer ring 2 / 7739
2
(HPO:0000563) Keratoconus 25 / 7739
3
(OMIM) Stromal thinning 1 / 7739
4
(OMIM) Fragmentation of Bowman membrane 1 / 7739
5
(OMIM) Subepithelial fibrosis 1 / 7739
6
(OMIM) Central steepening of cornea 1 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Keratoconus is a noninflammatory progressive corneal thinning disorder resulting in mixed myopia and irregular astigmatism. Characteristic features include stromal thinning, Vogt striae, Fleisher ring, and scissoring of the retinoscopic reflex with a fully dilated pupil. Symptoms usually develop ...
Clinical Description OMIM Rabinowitz et al. (1992) studied a family segregating autosomal dominant keratoconus over 3 generations. Of 8 affected individuals, 2 had undergone penetrating keratoplasty; the histopathologic findings were consistent with keratoconus, including fragmentation of the Bowman membrane, stromal thinning, ...