Cornea plana is clinically characterized by reduced corneal curvature leading in most cases to hyperopia, hazy corneal limbus, and arcus lipoides at an early age. CNA2 is a severe form of the disorder, which is frequently associated with additional ocular manifestations (summary by Tahvanainen et al., 1996).For discussion of genetic heterogeneity of CNA, see CNA1 (OMIM ).
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet (Denmark).
PORCN, B3GLCT, COL4A1, CYP1B1, EYA1, FOXC1, FOXE3, KERA, LAMB2, PAX2, PAX6, PITX2, PITX3
Specificity
8 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
KERA
Specificity
100 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
KERA
Specificity
100 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
TACSTD2, TCF4, ZEB1, TGFBI, VSX1, OVOL2, SLC4A11, COL8A2, CYP4V2, ZNF469, PIKFYVE, AGBL1, LOXHD1, DCN, CHRDL1, UBIAD1, FOXE3, GJA8, GSN, KERA , (...)
View the complete list with 6 more genes
Specificity
4 %
Genes
100 % |
![]() By Fulgent Genetics Fulgent Genetics (United States).
KERA
Specificity
100 %
Genes
100 % |
![]() By Blueprint Genetics (Finland).
TACSTD2, TCF4, ZEB1, TGFBI, OVOL2, SLC4A11, COL17A1, COL5A1, COL8A2, CYP4V2, ZNF469, PIKFYVE, LOXHD1, DCN, CHRDL1, UBIAD1, FOXE3, GJA8, GSN, KERA , (...)
View the complete list with 7 more genes
Specificity
4 %
Genes
100 % |
You can check the following sources for additional information.
MESH OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like LONG QT SYNDROME 11; LQT11 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2; HSCR2 HETEROTAXY, VISCERAL, 2, AUTOSOMAL; HTX2