Preferred Label : Keratoconus 1;
Symbol : KTCN1;
CISMeF acronym : KTCN1;
Type : Phenotype, molecular basis known;
Description : 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 stabilizing in the third and fourth decades. The
incidence of keratoconus is 1 in 2,000 in the general population; it occurs with no
ethnic or gender preponderance, and causes significant visual impairment in young
adults. No specific treatment exists except to replace the corneal tissue by surgery
(corneal transplantation) when visual acuity can no longer be corrected by contact
lenses (summary by Dash et al., 2006). Ihalainen (1986) reviewed various conditions
with which keratoconus is at times associated. Keratoconus is frequent in cases of
amaurosis congenita of Leber (204000). - Genetic Heterogeneity of Keratoconus Other
loci for keratoconus have been mapped to chromosomes 16q22.3-q23.1 (KTCN2; 608932),
3p14-q13 (KTCN3; 608586), 2p24 (KTCN4; 609271), 5q14.1-q21.3 (KTCN5; 614622), 9q34
(KTCN6; 614623), 13q32 (KTCN7; 614629), and 14q24.3 (KTCN8; 614628).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the visual system homeobox 1 gene (VSX1, 148300.0001);
Prefixed ID : #148300;
Origin ID : 148300;
UMLS CUI : C1835677;
Automatic exact mappings (from CISMeF team)
- Broader ORDO disease(s)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
