KERATOCONUS 8

General Information (adopted from Orphanet):

Synonyms, Signs: KTCN8
Number of Symptoms 2
OrphanetNr:
OMIM Id: 614628
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
(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 disorder in which there is thinning and ectasia of the cornea. The estimated prevalence varies from 29 to 86 per 100,000, although the condition may be underreported. The onset of disease is typically after ...
Clinical Description OMIM Liskova et al. (2010) studied 21 individuals with keratoconus from 6 pedigrees of various ethnic and racial backgrounds. All 21 family members designated as affected had clinical confirmation of keratoconus based on slit-lamp biomicroscopy, with the presence in ...
Molecular genetics OMIM - Exclusion Studies

In 6 pedigrees with keratoconus mapping to chromosome 14q24.3, Liskova et al. (2010) sequenced the coding region of the positional and functional candidate gene VSX2 (CHX10; 142993) but did not detect a sequence ...