| H00789 | |
| H number | H00789 |
| Name | Keratoconus |
| Description | Keratoconus (KTCN) is a frequent corneal ectasia characterized by localized corneal thinning and protrusion. Its exact cause is still unknown and is probably multifactorial. |
| Category | Nervous system disease |
| Network | nt06515(H00789) Regulation of kinetochore-microtubule interactions |
| Gene | (KTCN1) VSX1 [HSA:30813] [KO:K09335] (KTCN9) TUBA3D [HSA:113457] [KO:K07374] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Riboflavin 5'-phosphate sodium [DR:D05725] |
| Comment | Keratoconus can also be found in sydromic conditions such as Down syndrome, mitral valve prolapse [DS:H00661], Marfan syndrome [DS:H00653], and Ehlers-Danlos syndrome [DS:H00802]. |
| Other DBs | ICD-11: 9A78.50 ICD-10: H19.8 Q87.8 MeSH: D007640 OMIM: 148300 617928 |
| Reference | PMID:11778802 AUTHORS Edwards M, McGhee CN, Dean S TITLE The genetics of keratoconus. JOURNAL Clin Experiment Ophthalmol 29:345-51 (2001) DOI:10.1046/j.1442-9071.2001.d01-16.x PMID:20537579 AUTHORS Romero-Jimenez M, Santodomingo-Rubido J, Wolffsohn JS TITLE Keratoconus: a review. JOURNAL Cont Lens Anterior Eye 33:157-66; quiz 205 (2010) DOI:10.1016/j.clae.2010.04.006 PMID:11978762 (VSX1) AUTHORS Heon E, Greenberg A, Kopp KK, Rootman D, Vincent AL, Billingsley G, Priston M, Dorval KM, Chow RL, McInnes RR, Heathcote G, Westall C, Sutphin JE, Semina E, Bremner R, Stone EM TITLE VSX1: a gene for posterior polymorphous dystrophy and keratoconus. JOURNAL Hum Mol Genet 11:1029-36 (2002) DOI:10.1093/hmg/11.9.1029 PMID:29051577 (TUBA3D) AUTHORS Hao XD, Chen P, Zhang YY, Li SX, Shi WY, Gao H TITLE De novo mutations of TUBA3D are associated with keratoconus. JOURNAL Sci Rep 7:13570 (2017) DOI:10.1038/s41598-017-13162-0 |