KERATOCONUS 1

General Information (adopted from Orphanet):

Synonyms, Signs: KTCN1
Number of Symptoms 5
OrphanetNr:
OMIM Id: 148300
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000483) Astigmatism 67 / 7739
2
(HPO:0000563) Keratoconus 25 / 7739
3
(HPO:0011462) Young adult onset 7 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
5
(HPO:0001425) Heterogeneous 132 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Keratoconus, the most common corneal dystrophy, is a bilateral, noninflammatory progressive corneal ectasia. Clinically, the cornea becomes progressively thin and conical, resulting in myopia, irregular astigmatism, and corneal scarring. The disease usually arises in the teenage years, eventually ...
Clinical Description OMIM In a study of large number of patients with keratoconus in Finland, Ihalainen (1986) found that symptoms usually began in young adults. Pregnancy seemed to precipitate keratoconus in some instances.

Nielsen et al. (2003) used gene ...

Molecular genetics OMIM Heon et al. (2002) identified mutations in the candidate gene VSX1 in patients with either keratoconus or posterior polymorphous corneal dystrophy (PPCD; 122000). One of the mutations (R166W; 605020.0001) responsible for keratoconus altered the homeodomain and impaired DNA ...